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Gene: Psph MGI:97788

Gene Summary

Name:

phosphoserine phosphatase

Synonyms:

PSPase

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal embryo size	Psph^{tm1.1(KOMP)Vlcg}	HOM	E15.5	0.00
pallor	Psph^{tm1.1(KOMP)Vlcg}	HOM	E15.5	0.00
anophthalmia	Psph^{tm1.1(KOMP)Vlcg}	HOM	E15.5	0.00
microphthalmia	Psph^{tm1.1(KOMP)Vlcg}	HOM	E15.5	0.00
edema	Psph^{tm1.1(KOMP)Vlcg}	HOM	E15.5	0.00
small adrenal glands	Psph^{tm1.1(KOMP)Vlcg}	HET	Early adult	0.00
increased heart rate variability	Psph^{tm1.1(KOMP)Vlcg}	HET	Early adult	4.96×10^-05
pale yolk sac	Psph^{tm1.1(KOMP)Vlcg}	HOM	E12.5	0.00
preweaning lethality, complete penetrance	Psph^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	0.00
abnormal heart morphology	Psph^{tm1.1(KOMP)Vlcg}	HOM	E15.5	0.00
thrombocytopenia	Psph^{tm1.1(KOMP)Vlcg}	HET	Early adult	1.62×10^-05
abnormal craniofacial morphology	Psph^{tm1.1(KOMP)Vlcg}	HOM	E15.5	0.00
decreased circulating triglyceride level	Psph^{tm1.1(KOMP)Vlcg}	HET	Early adult	9.53×10^-05
pale placenta	Psph^{tm1.1(KOMP)Vlcg}	HOM	E15.5	0.00
cardiovascular system phenotype	Psph^{tm1.1(KOMP)Vlcg}	HET	Early adult	8.75×10^-05
preweaning lethality, complete penetrance	Psph^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
abnormal embryo size	Psph^{tm1.1(KOMP)Vlcg}	HOM	E12.5	0.00
abnormal eye morphology	Psph^{tm1.1(KOMP)Vlcg}	HOM	E12.5	0.00

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Brain	Section images	heterozygote	100% (2 of 2)
Cerebellum	Section images	heterozygote	100% (2 of 2)
Skin	Section images	heterozygote	100% (2 of 2)
Adrenal gland	N/A	heterozygote	50% (1 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	100% (2 of 2)
Brown adipose tissue	N/A	heterozygote	100% (1 of 1)
Cartilage tissue	N/A	heterozygote	50% (1 of 2)
Cerebral cortex	N/A	heterozygote	100% (2 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	100% (2 of 2)
Hypothalamus	N/A	heterozygote	100% (2 of 2)
Kidney	N/A	heterozygote	50% (1 of 2)
Large intestine	N/A	heterozygote	100% (2 of 2)
Liver	N/A	heterozygote	50% (1 of 2)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	100% (2 of 2)
Ovary	N/A	heterozygote	50% (1 of 2)
Oviduct	N/A	heterozygote	50% (1 of 2)
Pancreas	N/A	heterozygote	100% (2 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	Not available
Prostate gland	N/A	heterozygote	50% (1 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	100% (2 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	50% (1 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	50% (1 of 2)
Testis	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	50% (1 of 2)
Thyroid gland	N/A	heterozygote	50% (1 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	50% (1 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Axial skeleton	N/A	heterozygote	100% (2 of 2)
Brain	N/A	heterozygote	40% (2 of 5)
Central nervous system ganglion	N/A	heterozygote	0.0% (0 of 2)
Ear	N/A	heterozygote	0.0% (0 of 5)
Embryo	N/A	heterozygote	40% (2 of 5)
Eye	N/A	heterozygote	40% (2 of 5)
Footplate	N/A	heterozygote	40% (2 of 5)
Forebrain	N/A	heterozygote	40% (2 of 5)
Forelimb	N/A	heterozygote	40% (2 of 5)
Gut	N/A	heterozygote	0.0% (0 of 2)
Handplate	N/A	heterozygote	40% (2 of 5)
Head	N/A	heterozygote	0.0% (0 of 5)
Heart	N/A	heterozygote	40% (2 of 5)
Hindbrain	N/A	heterozygote	40% (2 of 5)
Hindlimb	N/A	heterozygote	40% (2 of 5)
Liver	N/A	heterozygote	40% (2 of 5)
Lung	N/A	heterozygote	0.0% (0 of 5)
Mandibular process	N/A	heterozygote	40% (2 of 5)
Maxillary process	N/A	heterozygote	40% (2 of 5)
Midbrain	N/A	heterozygote	40% (2 of 5)
Nose	N/A	heterozygote	100% (2 of 2)
Oral cavity	N/A	heterozygote	0.0% (0 of 5)
Skeleton	N/A	heterozygote	100% (2 of 2)
Skin	N/A	heterozygote	0.0% (0 of 5)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Tail somite	N/A	heterozygote	0.0% (0 of 5)
Tail	N/A	heterozygote	40% (2 of 5)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Urinary system	N/A	heterozygote	Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
vascular system	0.0%
white adipose tissue	0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
axial skeleton	Ambiguous
brain	0.0%
central nervous system ganglion	Ambiguous
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
gut	Ambiguous
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
nose	Ambiguous
oral cavity	0.0%
skeleton	Ambiguous
skin	0.0%
spinal cord	Ambiguous
tail	0.0%
tail somite group	0.0%
trachea	Ambiguous
urinary system	Ambiguous

10 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Eye Morphology

Images Ophthalmoscopy

2 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images

Psph^{tm1a(EUCOMM)Hmgu}
WT, Male, WTSI

Psph^{tm1a(EUCOMM)Hmgu}
HET, Female, WTSI

View all 80 images

Psph^{tm1a(EUCOMM)Hmgu}
TS20 yolk sac, HET, Female, WTSI

Psph^{tm1a(EUCOMM)Hmgu}
TS20 heart, HET, Male, WTSI

Psph^{tm1a(EUCOMM)Hmgu}
TS20 atrium, HET, Male, WTSI

Psph^{tm1a(EUCOMM)Hmgu}
upturned snout, asymmetric snout, abnormal snout morphology, head, HET, Male, WTSI

Psph^{tm1a(EUCOMM)Hmgu}
corneal opacity, HET, Female, WTSI

Psph^{tm1a(EUCOMM)Hmgu}
eyelids fail to open, HET, Male, WTSI

Human diseases caused by Psph mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Psph (2 diseases)
Human diseases predicted to be associated with Psph (2570 diseases)

The table below shows human diseases associated to Psph by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Phosphoserine Phosphatase Deficiency		Postnatal growth retardation, Intrauterine growth retardation	OMIM:614023
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form		Postnatal growth retardation, Palpebral edema, Hypospadias, Gastroesophageal reflux, Esophagitis,...	ORPHA:79350

The table below shows human diseases predicted to be associated to Psph by phenotypic similarity.

Disease	Matching phenotypes	Source
Spondylodysplastic Ehlers-Danlos Syndrome	Kyphoscoliosis, Subluxation of the small joints of the hand, Optic nerve hypoplasia, Abnormal fem...	ORPHA:536471
Chromosome 18Q Deletion Syndrome	Rocker bottom foot, Proximal placement of thumb, Sensorineural hearing impairment, Aortic valve s...	OMIM:601808
Emanuel Syndrome	Kyphoscoliosis, Congenital diaphragmatic hernia, Breech presentation, Dental crowding, Severe hea...	ORPHA:96170
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Mixed hearing impairment, Nail dystrophy, Microtia, Thyroid hypoplasia, Prolonged neonatal jaundi...	OMIM:620186
Fg Syndrome Type 1	Small pituitary gland, Clinodactyly of the 2nd finger, Optic nerve hypoplasia, Sensorineural hear...	ORPHA:93932
Emanuel Syndrome	Congenital diaphragmatic hernia, Dental crowding, Kyphosis, Intestinal malrotation, Pulmonic sten...	OMIM:609029
Pallister-Hall Syndrome	Ectopic kidney, Microtia, Oligodactyly, Hypothalamic hamartoma, Shortening of all distal phalange...	OMIM:146510
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Pectus excavatum, Abnormal optic disc morphology, Broad thumb, Long philt...	ORPHA:508498
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Contracture of the proximal interphalangeal joint of the 4th finger, Glabellar hemangioma, Kyphos...	OMIM:618223
Koolen-De Vries Syndrome Due To A Point Mutation	Spondylolisthesis, Pectus carinatum, Prominent fingertip pads, Hyperlordosis, Everted lower lip v...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Spondylolisthesis, Pectus carinatum, Prominent fingertip pads, Hyperlordosis, Everted lower lip v...	ORPHA:363958
Holoprosencephaly	Spinal cord tumor, Congenital diaphragmatic hernia, Solitary median maxillary central incisor, Ab...	ORPHA:2162
Verheij Syndrome	Retrognathia, Optic nerve hypoplasia, Joint hypermobility, Intrauterine growth retardation, Long ...	OMIM:615583
8Q24.3 Microdeletion Syndrome	Rocker bottom foot, Gastrointestinal hemorrhage, Highly arched eyebrow, Optic nerve hypoplasia, P...	ORPHA:508488
22Q11.2 Deletion Syndrome	Chronic otitis media, Corneal neovascularization, Gastrointestinal hemorrhage, Abnormal aortic ar...	ORPHA:567
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Prominent fingertip pads, Abnormal heart morphology, Dysphagia, Joint hypermobility, Long philtru...	OMIM:618494
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Rocker bottom foot, Retrognathia, Elevated circulating hepatic transaminase concentration, Optic ...	OMIM:301056
Rubinstein-Taybi Syndrome 1	Dislocated radial head, Hypoplastic iliac wing, Prominent fingertip pads, Joint hypermobility, Pa...	OMIM:180849
Meckel Syndrome, Type 1	Occipital encephalocele, Radial deviation of finger, Breech presentation, Anencephaly, Intestinal...	OMIM:249000
Mosaic Trisomy 1	Rocker bottom foot, Congenital diaphragmatic hernia, Broad 2nd toe, Abnormal pinna morphology, Ar...	ORPHA:1692
Stankiewicz-Isidor Syndrome	Retrognathia, Sacral dimple, Ureteral duplication, Hypospadias, 2-3 toe syndactyly, Truncus arter...	OMIM:617516
Acrootoocular Syndrome	Kyphoscoliosis, Wide nasal base, Abnormal earlobe morphology, Sandal gap, Abnormality of facial m...	ORPHA:2980
Congenital Disorder Of Glycosylation, Type Iig	Kyphoscoliosis, Microtia, Short long bone, Glossoptosis, Cerebellar atrophy, Broad femoral neck, ...	OMIM:611209
Charge Syndrome	Delayed puberty, Highly arched eyebrow, Abnormal pinna morphology, Microtia, Anosmia, Tracheoesop...	ORPHA:138
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Highly arched eyebrow, Pectus excavatum, Intestinal malrotation, Long philtrum, Overlapping toe, ...	OMIM:618316
Variant Abeta2M Amyloidosis	Abnormal vascular morphology, Gastrointestinal infarctions, Abnormal salivary gland morphology, A...	ORPHA:314652
Autosomal Recessive Robinow Syndrome	Chronic otitis media, Bilateral single transverse palmar creases, Abnormal hip bone morphology, D...	ORPHA:1507
Sotos Syndrome	Accelerated skeletal maturation, Prolonged neonatal jaundice, Decreased fetal movement, Joint hyp...	OMIM:117550
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Helsmoortel-Van Der Aa Syndrome	Enlarged kidney, Sandal gap, Prominent fingertip pads, Hyperlordosis, Everted lower lip vermilion...	OMIM:615873
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Abnormality of the gallbladder, Proximal placement of thumb, Abn...	ORPHA:818
Wolf-Hirschhorn Syndrome	Chronic otitis media, Congenital diaphragmatic hernia, Abnormality of the gallbladder, Hypoplasti...	ORPHA:280
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Breech presentation, Enlarged metaphyses, Microtia, Femoral bowing, Bifid first metacarpal, Short...	OMIM:210710
Jacobsen Syndrome	Abnormal form of the vertebral bodies, Intestinal malrotation, Aortic valve stenosis, Bone marrow...	ORPHA:2308
Developmental Delay With Or Without Dysmorphic Facies And Autism	Congenital diaphragmatic hernia, Highly arched eyebrow, Atrophy/Degeneration affecting the brains...	OMIM:618454
Autosomal Recessive Multiple Pterygium Syndrome	Hypoplasia of penis, Abnormal sternum morphology, Pectus excavatum, Low posterior hairline, Symph...	ORPHA:2990
1P36 Deletion Syndrome	Hypoplasia of penis, Sensorineural hearing impairment, Microtia, Abnormal intestine morphology, K...	ORPHA:1606
Pallister-Hall Syndrome	Ectopic kidney, Mesoaxial polydactyly, Microtia, Oligodactyly, Thyroid hypoplasia, Hypothalamic h...	ORPHA:672
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Breech presentation, Proximal placement of thumb, Broad alveolar ridge...	OMIM:270400
Lowry-Maclean Syndrome	Congenital diaphragmatic hernia, Retrognathia, Developmental glaucoma, Generalized hypertrichosis...	ORPHA:2409
Acrofacial Dysostosis 1, Nager Type	Congenital diaphragmatic hernia, Retrognathia, Radial deviation of finger, Temporomandibular join...	OMIM:154400
Recombinant Chromosome 8 Syndrome	Pectus excavatum, Low posterior hairline, Pulmonic stenosis, Ventriculomegaly, Anteverted nares, ...	OMIM:179613
Alg12-Cdg	Abnormal bone ossification, Elevated circulating hepatic transaminase concentration, Proximal pla...	ORPHA:79324
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Spondylolisthesis, Sandal gap, Dental crowding, Everted lower lip vermilion, Pectus excavatum, Pu...	OMIM:617877
ERI1-related disease	Dislocated radial head, Pectus carinatum, Oligodactyly, Pectus excavatum, Delayed skeletal matura...	OMIM:608739
Osteopathia Striata-Cranial Sclerosis Syndrome	Retrognathia, Asymmetry of the thorax, Hyperlordosis, Large iliac wing, Aortic valve stenosis, Hi...	ORPHA:2780
Zttk Syndrome	Breech presentation, Kyphosis, Bifid uvula, Cervical ribs, Intrauterine growth retardation, Joint...	OMIM:617140
Femoral-Facial Syndrome	Microtia, Long philtrum, Ventriculomegaly, Abnormal sacrum morphology, Abnormal fibula morphology...	ORPHA:1988
Short-Rib Thoracic Dysplasia 12	Anencephaly, Abnormal pinna morphology, Short long bone, Short ribs, Ascites, Intestinal malrotat...	OMIM:269860
Lateral Meningocele Syndrome	Abnormal form of the vertebral bodies, Sensorineural hearing impairment, Dental crowding, Hyperlo...	ORPHA:2789
Cooper-Jabs Syndrome	Congenital diaphragmatic hernia, Reduced bone mineral density, Low-set, posteriorly rotated ears,...	ORPHA:1488
14Q24.1Q24.3 Microdeletion Syndrome	Short nose, Ectopic kidney, Dislocated radial head, Limited elbow extension and supination, Trunc...	ORPHA:401935
Autosomal Recessive Spondylocostal Dysostosis	Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Kyphosis, Umbilical herni...	ORPHA:2311
Kleefstra Syndrome	Chronic otitis media, Hypoplasia of penis, Highly arched eyebrow, Everted lower lip vermilion, Bi...	ORPHA:261494
Monosomy 22	Retrognathia, Clubbing, Sparse hair, Aplasia of the thymus, Long philtrum, Low-set, posteriorly r...	ORPHA:96123
Hoxha-Aliu Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Pec...	OMIM:620662
Ritscher-Schinzel Syndrome 1	Low posterior hairline, Pulmonic stenosis, Aortic valve stenosis, Syndactyly, Intrauterine growth...	OMIM:220210
Toriello-Carey Syndrome	Abnormal pinna morphology, Cardiomyopathy, Pulmonic stenosis, Intrauterine growth retardation, Ve...	ORPHA:3338
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Chronic otitis media, Internally rotated shoulders, Wide mouth, Joint hypermobility, Transpositio...	OMIM:619503
Doors Syndrome	Aplasia/Hypoplasia of the phalanges of the 2nd toe, Wide nasal base, Broad alveolar ridges, Abnor...	ORPHA:79500
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Meckel diverticulum, Femoral bowing, Corneal opacity, Broad thumb, Bilatera...	OMIM:274000
Robinow Syndrome, Autosomal Recessive 1	Retrognathia, Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocate...	OMIM:268310
Charge Syndrome	Delayed puberty, Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Anosmia, T...	OMIM:214800
Distal Deletion 10Q	Inferior cerebellar vermis hypoplasia, Sandal gap, Facial diplegia, Prominent fingertip pads, Coc...	ORPHA:96148
Wolf-Hirschhorn Syndrome	Abnormal form of the vertebral bodies, Highly arched eyebrow, Sensorineural hearing impairment, A...	OMIM:194190
Triploidy	Abnormality of the gallbladder, Hypoplasia of penis, Decreased skull ossification, Intestinal mal...	ORPHA:3376
Distal Monosomy 7Q36	Optic atrophy, Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Hypopl...	ORPHA:1636
Gombo Syndrome	Microphthalmia, Abnormal heart morphology	OMIM:233270
Apert Syndrome	Corneal erosion, Sensorineural hearing impairment, Hypertension, Broad thumb, Bifid uvula, Ventri...	ORPHA:87
Ogden Syndrome	Everted upper lip vermilion, Bifid nasal tip, Perimembranous ventricular septal defect, Jaundice,...	OMIM:300855
Distal 22Q11.2 Microdeletion Syndrome	Abnormal earlobe morphology, Sandal gap, Highly arched eyebrow, Sensorineural hearing impairment,...	ORPHA:261330
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Cholestasis, Ascites, Decreased fetal movement, Decreased circulating T...	OMIM:608104
Sandestig-Stefanova Syndrome	Rocker bottom foot, Bilateral single transverse palmar creases, Retrognathia, Highly arched eyebr...	OMIM:618804
Johnson Neuroectodermal Syndrome	Absent eyebrow, Microtia, Absent eyelashes, Facial palsy, Everted lower lip vermilion, Anosmia, C...	ORPHA:2316
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Chromosome 1P36 Deletion Syndrome, Distal	Ectopic kidney, Sensorineural hearing impairment, Microtia, Delayed skeletal maturation, Bifid uv...	OMIM:607872
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Optic nerve hypoplasia, Microtia, Retinal atrophy, Corneal opacity, Kink...	OMIM:236670
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Highly arched eyebrow, Optic nerve hypoplasia, Pectus carinatum, Pectus excavatum, Low posterior ...	OMIM:617506
Intellectual Developmental Disorder, Autosomal Dominant 21	Thin vermilion border, Sacral dimple, Single transverse palmar crease, Incisor macrodontia, Low-s...	OMIM:615502
Kaufman Oculocerebrofacial Syndrome	Abnormal pinna morphology, Intestinal malrotation, Sparse hair, Ventriculomegaly, Astigmatism, An...	OMIM:244450
Femoral-Facial Syndrome	Aplasia/hypoplasia of the femur, Limited elbow movement, Pulmonic stenosis, Short humerus, Premat...	OMIM:134780
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Bicuspid aortic valve, Short nose, Absent cupid's bow, Astigmatism, Ventricular hypertrophy, Choa...	ORPHA:284169
Robinow Syndrome	Kyphoscoliosis, Mixed hearing impairment, Mesomelic arm shortening, Acromesomelia, Broad alveolar...	ORPHA:97360
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Tracheoesophageal fistula, Abnormal heart morphology, Recurrent ...	ORPHA:2745
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Congenital diaphragmatic hernia, Abnormal hip bone morphology, Abnormal lower lip morphology, Ver...	ORPHA:1166
Septopreoptic Holoprosencephaly	Central diabetes insipidus, Abnormal vertebral morphology, Anterior hypopituitarism, Ethmoidal en...	ORPHA:280195
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Abnormal lung lobation, Bilateral single transverse palmar creases, High, narrow palate, Webbed n...	ORPHA:2516
Trisomy 18	Congenital diaphragmatic hernia, Bilateral single transverse palmar creases, Anencephaly, Abnorma...	ORPHA:3380
Orofaciodigital Syndrome Vi	Radial deviation of finger, Tibial bowing, Hypothalamic hamartoma, Accessory oral frenulum, Tongu...	OMIM:277170
Pseudotrisomy 13 Syndrome	Cyclopia, Tricuspid atresia, Encephalocele, Hydrocephalus, Hemivertebrae, Postaxial hand polydact...	OMIM:264480
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Highly arched eyebrow, Pectus excavatum, Low posterior hairline, Recurrent sinusitis, Decreased f...	OMIM:213980
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Radial deviation of finger, Sandal gap, Pectus carinatum, Aortic valve stenosis, Delayed skeletal...	OMIM:618164
Diamond-Blackfan Anemia 7	Macrocytic anemia, Intrauterine growth retardation, Neutropenia, Scoliosis, Choanal atresia, Oste...	OMIM:612562
16P13.11 Microdeletion Syndrome	Sensorineural hearing impairment, Pectus excavatum, Wide mouth, Ventriculomegaly, Cyclopia, Antev...	ORPHA:261236
Rabson-Mendenhall Syndrome	Premature graying of hair, Dental crowding, Cardiomyopathy, Retinopathy, Delayed skeletal maturat...	ORPHA:769
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Pituitary dwarfism, Decreased thyroid-stimulating hormone level, Bradycardia, Optic nerve hypopla...	ORPHA:226307
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Low posterior hairline, Interhypothalamic adhesion, Long philtrum, Thickened helices, Short philt...	OMIM:618929
Mosaic Variegated Aneuploidy Syndrome	Rhabdomyosarcoma, Intestinal polyposis, Abnormality of the upper limb, Corneal opacity, Ascites, ...	ORPHA:1052
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Abnormal form of the vertebral bodies, Osteolysis involving bones of the lower limbs, Broad clavi...	ORPHA:371428
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Long nose, Retrognathia, Left-to-right shunt, Abnormal heart morphology, Overlapping toe, Ventric...	ORPHA:363444
Phaver Syndrome	Abnormal form of the vertebral bodies, Myelomeningocele, Broad thumb, Joint stiffness, Intrauteri...	ORPHA:2876
Van Maldergem Syndrome 2	Sensorineural hearing impairment, Microtia, Joint hypermobility, Clinodactyly, Short 4th metacarp...	OMIM:615546
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Pectus carinatum, Aortic valve stenosis, Lower eyelid edema, Arrhyth...	ORPHA:363705
Thanatophoric Dysplasia Type 2	Kyphosis, Joint hypermobility, Ventriculomegaly, Encephalocele, Short thorax, Hydrocephalus, Micr...	ORPHA:93274
Chromosome 9P Deletion Syndrome	Clinodactyly of the 5th toe, Retrognathia, Sandal gap, Highly arched eyebrow, Heart murmur, Long ...	OMIM:158170
Benign Schwannoma	Abnormal fibula morphology, Abnormality of the twelfth cranial nerve, Hearing abnormality, Intest...	ORPHA:252164
Cenani-Lenz Syndrome	Abnormal form of the vertebral bodies, Oligodactyly, Hip dislocation, Hypoplasia of the ulna, Hyp...	ORPHA:3258
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Kyphoscoliosis, Retrognathia, Small proximal tibial epiphyses, Broad distal phalanx of finger, Ab...	ORPHA:96334
Schinzel-Giedion Syndrome	Kyphoscoliosis, Stiff elbow, Retrognathia, Broad alveolar ridges, Generalized hypertrichosis, Tib...	ORPHA:798
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Mullegama-Klein-Martinez Syndrome	Congenital diaphragmatic hernia, Sensorineural hearing impairment, Microtia, Bifid uvula, Long ph...	OMIM:301022
Congenital Heart Defects And Skeletal Malformations Syndrome	Congenital diaphragmatic hernia, Long nose, Sandal gap, Repeated pneumothoraces, Dental crowding,...	OMIM:617602
Aminopterin/Methotrexate Embryofetopathy	Anencephaly, Mesomelia, Intrauterine growth retardation, Aplasia/Hypoplasia of the cerebellum, Lo...	ORPHA:1908
Baller-Gerold Syndrome	Limited elbow movement, Mixed hearing impairment, Anomalous splenoportal venous system, Carpal bo...	OMIM:218600
Mycophenolate Mofetil Embryopathy	Congenital diaphragmatic hernia, Ectopic kidney, Microtia, Tracheoesophageal fistula, Hydrops fet...	ORPHA:268249
Neu-Laxova Syndrome 1	Rocker bottom foot, Radial deviation of finger, Swollen lip, Decreased fetal movement, Intrauteri...	OMIM:256520
Lissencephaly Syndrome, Norman-Roberts Type	Rocker bottom foot, Wide nose, Patent foramen ovale, Low-set ears, Cerebellar atrophy, Hypoplasti...	ORPHA:89844
Cornelia De Lange Syndrome	Delayed puberty, Congenital diaphragmatic hernia, Bilateral single transverse palmar creases, Pro...	ORPHA:199
Chromosome 1Q41-Q42 Deletion Syndrome	Congenital diaphragmatic hernia, Sandal gap, Microtia, Pectus excavatum, Ventriculomegaly, Short ...	OMIM:612530
Mosaic Variegated Aneuploidy Syndrome 2	Severe intrauterine growth retardation, Round ear, Delayed skeletal maturation, Sparse hair, Intr...	OMIM:614114
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia	OMIM:611638
Myhre Syndrome	Radial deviation of finger, Hypoplastic iliac wing, Microtia, Short long bone, Hypertension, Join...	OMIM:139210
Lateral Meningocele Syndrome	Dental crowding, Pectus excavatum, Kyphosis, Biconcave vertebral bodies, Short nasal bridge, Umbi...	OMIM:130720
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	High, narrow palate, Thick lower lip vermilion, Astigmatism, Clinodactyly of the 5th finger, Unde...	ORPHA:369950
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Bilateral single transverse palmar creases, Low-set, posteriorly rotated ears, Non-midline cleft ...	ORPHA:1770
Aicardi Syndrome	Proximal placement of thumb, Lipoma, Lateral ventricle dilatation, Optic atrophy, Butterfly verte...	OMIM:304050
Meier-Gorlin Syndrome 1	Breech presentation, Absent sternal ossification, Pectus carinatum, Microtia, Short ribs, Microdo...	OMIM:224690
Hyperaldosteronism, Familial, Type I	Decreased circulating renin level, Hypertension, Adrenal hyperplasia, Adrenogenital syndrome, Hyp...	OMIM:103900
Alg3-Cdg	Osteopenia, Decreased liver function, Abnormality of the nose, Abnormality of the gastrointestina...	ORPHA:79321
Arnold-Chiari Malformation Type I	Urinary incontinence, Cervical C2/C3 vertebral fusion, Abnormality of the eleventh cranial nerve,...	ORPHA:268882
Cranioectodermal Dysplasia 2	Retrognathia, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Short rib...	OMIM:613610
Kapur-Toriello Syndrome	Dysplastic corpus callosum, Orofacial cleft, Hypoplasia of penis, Low-set ears, Retinal coloboma,...	ORPHA:2328
Sifrim-Hitz-Weiss Syndrome	Flat acetabular roof, Bifid uvula, Wormian bones, Ventriculomegaly, Astigmatism, Cryptorchidism, ...	OMIM:617159
Acrocardiofacial Syndrome	Hypoplasia of penis, Split foot, Intrauterine growth retardation, Abnormal metacarpal morphology,...	ORPHA:2008
Microform Holoprosencephaly	Solitary median maxillary central incisor, Hypoplasia of penis, Premature birth, Intrauterine gro...	ORPHA:280200
Thrombocytopenia 7	Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Reduce...	OMIM:619130
Halperin-Birk Syndrome	Congenital diaphragmatic hernia, Colpocephaly, Umbilical hernia, Intrauterine growth retardation,...	OMIM:618651
Snijders Blok-Campeau Syndrome	Perimembranous ventricular septal defect, Widely spaced teeth, Astigmatism, Inguinal hernia, Scol...	OMIM:618205
Beare-Stevenson Cutis Gyrata Syndrome	Hypertension, Bifid uvula, Craniosynostosis, Overlapping toe, Ventriculomegaly, Optic atrophy, Na...	OMIM:123790
Double Outlet Right Ventricle	Hypoparathyroidism, Tachycardia, Truncus arteriosus, Narrow mouth, Pulmonary artery atresia, Vent...	ORPHA:3426
Transaldolase Deficiency	Decreased liver function, Wide mouth, Splenomegaly, Micronodular cirrhosis, Intrauterine growth r...	OMIM:606003
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension, Thrombocytopenia	OMIM:166990
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Postnatal growth retardation, Reduced bone mineral density, Hepatomegaly, Joint dislocation, Shor...	OMIM:620210
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Retrognathia, Meckel diverticulum, Tracheoesophageal fistula, Intestinal malrotation, Nonimmune h...	OMIM:265380
Noonan Syndrome 2	Abnormal coronary artery origin, Abnormal sternum morphology, Pectus carinatum, Prominent fingert...	OMIM:605275
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, HbH hemoglobin, Radial deviation of finger, Sensorineural hearing impairment, Mic...	OMIM:301040
Aarskog-Scott Syndrome	Abnormal pinna morphology, Everted lower lip vermilion, Pectus excavatum, Umbilical hernia, Long ...	ORPHA:915
Microphthalmia, Syndromic 9	Congenital diaphragmatic hernia, Multilobulated spleen, Right aortic arch with mirror image branc...	OMIM:601186
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Congenital diaphragmatic hernia, Bilateral single transverse palmar creases, Proximal placement o...	ORPHA:1120
Koolen-De Vries Syndrome	Spondylolisthesis, Prominent fingertip pads, Everted lower lip vermilion, Kyphosis, Pectus excava...	OMIM:610443
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Retrognathia, Dilation of Virchow-Robin spaces, Sensorineural hearing impairment, Lateral ventric...	ORPHA:544488
Isolated Klippel-Feil Syndrome	Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Webbed neck, Abnormality of the ve...	ORPHA:2345
Diabetic Embryopathy	Ureteral duplication, Microtia, Abnormal sacrum morphology, Aplasia/Hypoplasia of the cerebellum,...	ORPHA:1926
Oculoauriculovertebral Spectrum With Radial Defects	Short mandibular rami, Sensorineural hearing impairment, Microtia, Wide mouth, Aplasia/Hypoplasia...	ORPHA:2549
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Abnormality of the hand, Clinodactyly of the 5th finger, Clinodactyly of the 3rd toe, Wide nose, ...	ORPHA:521308
Mandibulofacial Dysostosis-Microcephaly Syndrome	Atrial septal defect, Short nose, Abnormal middle ear morphology, Abnormal antihelix morphology, ...	ORPHA:79113
Mosaic Trisomy 16	Meckel diverticulum, Abnormal heart morphology, Wide mouth, Syndactyly, Premature birth, Intraute...	ORPHA:1708
Noonan Syndrome	Sensorineural hearing impairment, Pectus carinatum, Enlarged thorax, Pectus excavatum, Low poster...	ORPHA:648
Monosomy 18P	Kyphoscoliosis, Enlarged thorax, Hypertension, Pectus excavatum, Low posterior hairline, Short ph...	ORPHA:1598
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Kyphoscoliosis, Broad lateral eyebrow, Optic nerve hypoplasia, Arachnodactyly, Bifid uvula, Absen...	ORPHA:500150
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Rocker bottom foot, Urinary incontinence, Decreased fetal movement, Alveolar ridge overgrowth, Ce...	OMIM:620070
Carpenter Syndrome 1	Sensorineural hearing impairment, Abnormal pinna morphology, Flared iliac wing, Agenesis of perma...	OMIM:201000
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Widened distal phalanges, Abnormal subclavian artery morphology, Broad distal phalanx of finger, ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Widened distal phalanges, Abnormal subclavian artery morphology, Broad distal phalanx of finger, ...	ORPHA:353277
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Prelingual sensorineural hearing impairment, Sensorineural hearing impairment, Severe intrauterin...	ORPHA:73272
Multiple Pterygium Syndrome, Escobar Variant	Rocker bottom foot, Congenital diaphragmatic hernia, Dislocated radial head, Kyphosis, Arachnodac...	OMIM:265000
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Sandal gap, Highly arched eyebrow, Broad thumb, Short 5th finger, Perimembranous ventricular sept...	OMIM:600987
Neurooculorenal Syndrome	Mixed hearing impairment, Highly arched eyebrow, Sensorineural hearing impairment, Iris atrophy, ...	OMIM:620305
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Highly arched eyebrow, Everted lower lip vermilion, Aortic valve stenosis, V...	ORPHA:96147
Amegakaryocytic Thrombocytopenia, Congenital, 1	Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia	OMIM:604498
Jacobsen Syndrome	Pectus excavatum, Intrauterine growth retardation, Optic atrophy, Hypospadias, Hydrocephalus, Ant...	OMIM:147791
Kabuki Syndrome 2	Highly arched eyebrow, Prominent fingertip pads, Pulmonic stenosis, Joint hypermobility, Short 5t...	OMIM:300867
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Highly arched eyebrow, Pectus carinatum, Intestinal malrotation, Syndactyly, Enamel agenesis, Lon...	OMIM:614701
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Microphthalmia, Ventricular septal defect, Anophthalmia	OMIM:615524
Fanconi Anemia, Complementation Group B	Aplastic anemia, Tracheoesophageal fistula, Bilateral radial aplasia, Absent thumb, Hypogonadism,...	OMIM:300514
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Decreased fetal movement, Retrognathia, Recurrent otitis media, Clinodactyly of the 5th finger, A...	OMIM:619758
Congenital Disorder Of Glycosylation, Type Iie	Decreased liver function, Retrognathia, Sensorineural hearing impairment, Cerebellar atrophy, Spl...	OMIM:608779
Restrictive Dermopathy	Ureteral duplication, Sparse or absent eyelashes, Thoracic kyphoscoliosis, Temporomandibular join...	ORPHA:1662
D-Bifunctional Protein Deficiency	Retrognathia, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Choles...	OMIM:261515
Catel-Manzke Syndrome	Low insertion of columella, Pectus carinatum, Glossoptosis, Short metacarpal, Pectus excavatum, U...	OMIM:616145
Microphthalmia, Syndromic 3	Optic nerve hypoplasia, Sensorineural hearing impairment, Hypothalamic hamartoma, Butterfly verte...	OMIM:206900
Kabuki Syndrome	Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Hypoplasia of penis, Sens...	ORPHA:2322
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Rhizomelic leg shortening, Dysgenesis of the cerebellar vermis, Elevated...	ORPHA:397715
Kbg Syndrome	Persistent open anterior fontanelle, Delayed skeletal maturation, Congenital malformation of the ...	ORPHA:2332
14Q22Q23 Microdeletion Syndrome	Bilateral single transverse palmar creases, Delayed skeletal maturation, Decreased fetal movement...	ORPHA:264200
Hypertelorism, Microtia, Facial Clefting Syndrome	Abnormal vertebral morphology, Ectopic kidney, Abnormality of the vertebral column, Microtia, 2-3...	OMIM:239800
Turner Syndrome Due To Structural X Chromosome Anomalies	Delayed puberty, Cholestatic liver disease, Retrognathia, Reduced bone mineral density, Elevated ...	ORPHA:99413
Mosaic Monosomy X	Delayed puberty, Cholestatic liver disease, Retrognathia, Reduced bone mineral density, Elevated ...	ORPHA:99228
Monosomy X	Delayed puberty, Cholestatic liver disease, Retrognathia, Reduced bone mineral density, Elevated ...	ORPHA:99226
Turner Syndrome	Delayed puberty, Cholestatic liver disease, Retrognathia, Reduced bone mineral density, Elevated ...	ORPHA:881
Van Maldergem Syndrome 1	Sensorineural hearing impairment, Microtia, Joint hypermobility, Clinodactyly, Short 4th metacarp...	OMIM:601390
Distal Limb Deficiencies-Micrognathia Syndrome	Sensorineural hearing impairment, Oligodactyly, Microdontia, Split foot, Tarsal synostosis, Low-s...	ORPHA:1307
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Delayed puberty, Kyphoscoliosis, Dental crowding, Kyphosis, Wide mouth, Cardiomegaly, Joint hyper...	OMIM:300967
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Posteriorly placed anus, Short long bone, Myelomeningocele, Pul...	OMIM:306955
Holoprosencephaly 5	Orofacial cleft, Central diabetes insipidus, Semilobar holoprosencephaly, Alobar holoprosencephal...	OMIM:609637
Peters Plus Syndrome	Ureteral duplication, Disproportionate short-limb short stature, Corneal opacity, Pulmonic stenos...	ORPHA:709
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Everted lower li...	OMIM:619534
Otofaciocervical Syndrome	Abnormal clavicle morphology, Abnormal antihelix morphology, Anteverted nares, High palate, Scapu...	ORPHA:2792
Cardiospondylocarpofacial Syndrome	Congenital diaphragmatic hernia, Hypoplastic nasal tip, Delayed skeletal maturation, Wide mouth, ...	OMIM:157800
Greenberg Dysplasia	Retrognathia, Disproportionate short-limb short stature, Short long bone, Short ribs, Short metac...	OMIM:215140
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Spinal cord tumor, Broad distal phalanx of finger, Sensorineural hearing impairment, Dental crowd...	ORPHA:353281
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Nuclear pulverulent cataract, Sutural cataract, Highly arched eyebrow, Sensorineural hearing impa...	OMIM:612474
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Hyphema, Arachnodactyly, Abnormal jaw morphology, Bifid uvula, Lateral ventricle dilatation, Enla...	ORPHA:261552
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Narrow greater sciatic notch, Dislocated radial head, Short humerus, Hip dislocation, Hypoplasia ...	OMIM:602471
7Q31 Microdeletion Syndrome	Clinodactyly of the 2nd finger, Prominent fingertip pads, Delayed skeletal maturation, Wide mouth...	ORPHA:251061
Nicolaides-Baraitser Syndrome	Broad distal phalanx of finger, Wide nasal base, Sandal gap, Broad 2nd toe, Everted lower lip ver...	OMIM:601358
Distal Deletion 15Q	Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Double outlet right ventricle w...	ORPHA:1596
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Sandal gap, Abnormal pinna morphology, Abnormal heart morphology, Bicuspid aortic valve, Joint hy...	ORPHA:477817
49,Xxxxy Syndrome	Chronic otitis media, Hypoplasia of penis, Hypogonadism, Abnormal epiphysis morphology, Joint hyp...	ORPHA:96264
Thrombocytopenia 9	Thrombocytopenia, Decreased circulating thrombopoietin concentration, Abnormal platelet aggregation	OMIM:620478
Isotretinoin-Like Syndrome	Abnormal aortic arch morphology, Aplasia/Hypoplasia of the inner ear, Microtia, Abnormality of th...	ORPHA:2306
Aicardi Syndrome	Delayed puberty, Intestinal polyposis, Ventriculomegaly, Aplasia/Hypoplasia of the cerebellum, Op...	ORPHA:50
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Situs inversus totalis, Cyclopia, Polyhydramnios, Aplasia/Hypoplasia of the eyebrow, Low-set, pos...	ORPHA:990
Fetal Akinesia Deformation Sequence 1	Rocker bottom foot, Wrist flexion contracture, Premature birth, Nonimmune hydrops fetalis, Thorac...	OMIM:208150
Lambotte Syndrome	Semilobar holoprosencephaly, Ocular anterior segment dysgenesis, Retrognathia, Narrow mouth, Atre...	OMIM:245552
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Molar tooth sign on MRI, Spindle-shaped finger, Genu valgum, Abnormal vertebral morphology, Trian...	ORPHA:166024
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Acrofacial Dysostosis Syndrome Of Rodriguez	Oligodactyly, Absent forearm, Overlapping toe, Clinodactyly, Fibular hypoplasia, Short philtrum, ...	OMIM:201170
Mosaic Trisomy 9	Rocker bottom foot, Abnormal liver lobulation, Hypoplasia of penis, Corneal opacity, Intestinal m...	ORPHA:99776
Floating-Harbor Syndrome	Kyphoscoliosis, Mesocardia, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial...	OMIM:136140
Hardikar Syndrome	Decreased liver function, Hematemesis, Elevated circulating hepatic transaminase concentration, V...	OMIM:301068
Distal Deletion 13Q	Optic atrophy, Abnormality of the hand, Anencephaly, Encephalocele, Abnormal metacarpal morpholog...	ORPHA:1590
Fraser Syndrome 1	Abnormal middle ear morphology, Dental crowding, Abnormal pinna morphology, Corneal opacity, Myel...	OMIM:219000
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Short ribs, Aplasia of the epiglottis, Cerebellar vermis hypoplasia, Dan...	OMIM:615948
Preeclampsia/Eclampsia 1	Hypertension, Thrombocytopenia	OMIM:189800
Silver-Russell Syndrome Due To A Point Mutation	Postnatal growth retardation, Polydactyly, Small placenta, Clinodactyly of the 5th finger, Hyposp...	ORPHA:397590
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Lower-limb joint contracture, Ventriculomegaly, Anteverted nares, Os...	ORPHA:513456
Crouzon Syndrome	Optic atrophy, Deviated nasal septum, Lambdoidal craniosynostosis, Hydrocephalus, Dental crowding...	OMIM:123500
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Bifid uvula, Thickened helices, Cyst of the ductus choledochus, Scoliosis, Exaggerated cupid's bo...	OMIM:619480
Congenital Disorder Of Glycosylation, Type Iit	Astigmatism, Urinary incontinence, Iron deficiency anemia, Short philtrum, Sandal gap, Low-set ea...	OMIM:618885
Trisomy 13	Bilateral single transverse palmar creases, Sensorineural hearing impairment, Kyphosis, Multiple ...	ORPHA:3378
Cerebellar-Facial-Dental Syndrome	Inferior cerebellar vermis hypoplasia, Delayed skeletal maturation, Severe short stature, Mitral ...	ORPHA:444072
Verloove Vanhorick-Brubakk Syndrome	Abnormal femur morphology, Tarsal synostosis, Abnormal metacarpal morphology, Abnormal form of th...	ORPHA:3429
Fryns Microphthalmia Syndrome	Microphthalmia, Neural tube defect, Anophthalmia	OMIM:600776
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Highly arched eyebrow, Broad 2nd toe, Everted lower lip vermilion, Pectus excavatum, Wide mouth, ...	OMIM:280000
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Hypoplastic nasal tip, Pulmonic stenosis, Frontal hirsutism, Patent ductus arteriosus, Protruding...	ORPHA:3304
Monosomy 9P	Congenital diaphragmatic hernia, Bilateral single transverse palmar creases, Proximal placement o...	ORPHA:261112
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Catel-Manzke Syndrome	Chronic otitis media, Highly arched eyebrow, Glossoptosis, Pectus excavatum, Joint stiffness, Abn...	ORPHA:1388
Pigmented Nodular Adrenocortical Disease, Primary, 3	Adrenal hyperplasia, Increased circulating cortisol level	OMIM:614190
Bartsocas-Papas Syndrome 1	Ectopic kidney, Hypoplastic iliac wing, Microtia, Oligodactyly, Short metacarpal, Absent thumb, S...	OMIM:263650
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Sensorineural hearing impairment, Dental crowding, Pectus carinatum, Pectus...	ORPHA:261537
Gm1 Gangliosidosis	Abnormal form of the vertebral bodies, Hyperlordosis, Corneal opacity, Cardiomyopathy, Kyphosis, ...	ORPHA:354
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic aciduria, Fetal distress, Bell-shaped thorax, Normochromic anemia, Gastroesophageal...	OMIM:614857
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Spinal rigidity, Calf muscle hypertrophy, Hypoplasia of the pyramidal tract, Pulmonic stenosis, O...	OMIM:253800
Diamond-Blackfan Anemia 1	Retrognathia, Hypoplastic coccygeal vertebrae, Macrocytic anemia, Premature birth, Primary congen...	OMIM:105650
Blomstrand Lethal Chondrodysplasia	Broad clavicles, Short ribs, Short metacarpal, Accelerated skeletal maturation, Mesomelia, Premat...	ORPHA:50945
Joubert Syndrome 14	Highly arched eyebrow, Hypertension, Optic atrophy, Encephalocele, Meningocele, Short philtrum, D...	OMIM:614424
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre...	OMIM:615193
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Patent ductus arteriosus, Low hanging colu...	OMIM:617260
3C Syndrome	Abnormal hip bone morphology, Hypoplasia of penis, Kyphosis, Intestinal malrotation, Pulmonic ste...	ORPHA:7
17Q24.2 Microdeletion Syndrome	Prolonged QT interval, Microtia, Broad thumb, Pulmonic stenosis, Patent ductus arteriosus after b...	ORPHA:529962
Microgastria-Limb Reduction Defect Syndrome	Abnormal finger morphology, Oligodactyly, Tracheoesophageal fistula, Intestinal malrotation, Apla...	ORPHA:2538
Mowat-Wilson Syndrome	Urinary incontinence, Sensorineural hearing impairment, Dental crowding, Pectus carinatum, Everte...	ORPHA:2152
Slc35A2-Cdg	Transient nephrotic syndrome, Elevated circulating hepatic transaminase concentration, Sensorineu...	ORPHA:356961
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Sandal gap, Tibial bowing, Syndactyly, Ventriculomegaly, Aplasia/Hypoplasia of t...	OMIM:612651
Floating-Harbor Syndrome	Kyphoscoliosis, Long nose, Mesocardia, Dislocated radial head, Cochlear malformation, Microdontia...	ORPHA:2044
Meckel Syndrome, Type 8	Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Pericardial effusion	OMIM:613885
Bleeding Disorder, Platelet-Type, 19	Macrothrombocytopenia, Thrombocytopenia, Anemia, Epistaxis	OMIM:616176
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Cerebrooculofacioskeletal Syndrome 3	Intrauterine growth retardation, Microphthalmia, Edema	OMIM:616570
Simpson-Golabi-Behmel Syndrome	Congenital diaphragmatic hernia, Ureteral duplication, Prolonged QT interval, Hypoplasia of penis...	ORPHA:373
Esophageal Atresia	Anorectal anomaly, Bronchitis, Tracheoesophageal fistula, Intestinal malrotation, Dysphagia, Abno...	ORPHA:1199
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Cyclopia, Aplasia/Hypoplasia of the thumb, Hear...	ORPHA:3186
Diamond-Blackfan Anemia	Developmental glaucoma, Abnormality of the thenar eminence, Normochromic anemia, Microtia, Macroc...	ORPHA:124
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Retrognathia, Optic nerve hypoplasia, Cerebellar atrophy, Olivopontocerebellar hypoplasia, Severe...	ORPHA:468631
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Abnormal vertebral morphology, Esophageal atresia, 11 pairs of ribs, Hypoplasia of penis, Hypospa...	ORPHA:77298
Chromosome 3Q13.31 Deletion Syndrome	Proximal placement of thumb, Short philtrum, Alobar holoprosencephaly, High palate, Low-set ears,...	OMIM:615433
Marshall-Smith Syndrome	Short mandibular rami, Kyphoscoliosis, Retrognathia, Highly arched eyebrow, Optic nerve hypoplasi...	OMIM:602535
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ...	OMIM:187800
Platelet Signal Processing Defect	Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp...	OMIM:173590
Mandibulofacial Dysostosis, Guion-Almeida Type	Short nose, Esophageal atresia, Proximal placement of thumb, Anteverted nares, Microtia, Low-set ...	OMIM:610536
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Butterfly vertebrae, Retrognathia, Muscular ventricular septal defect, Fused cervical vertebrae, ...	OMIM:619227
Frontonasal Dysplasia 1	Radial deviation of finger, Frontal cutaneous lipoma, Bifid nasal tip, Hypoplastic frontal sinuse...	OMIM:136760
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Aganglionic megacolon, Intestinal pseudo-obstruction, Abnormal autonomic nervous system physiolog...	OMIM:243180
Digeorge Syndrome	Right aortic arch with mirror image branching, Bifid uvula, Ovarian cyst, Splenomegaly, Abnormal ...	OMIM:188400
Houge-Janssens Syndrome 3	Muscular ventricular septal defect, Short philtrum, Inguinal hernia, Single transverse palmar cre...	OMIM:618354
Congenital Rubella Syndrome	Abnormal metaphysis morphology, Atrial septal defect, Jaundice, Hepatomegaly, Anemia, Sensorineur...	ORPHA:290
Oculoectodermal Syndrome	Bladder exstrophy, Astigmatism, Giant cell granuloma of mandible, Microcornea, Chorioretinal atro...	OMIM:600268
Microcephaly-Micromelia Syndrome	Oligodactyly, Absent thumb, Absent radius, Intrauterine growth retardation, Craniosynostosis, Oli...	OMIM:251230
Joubert Syndrome 18	Kyphoscoliosis, Occipital encephalocele, Molar tooth sign on MRI, Retrognathia, Intrahepatic bili...	OMIM:614815
Noonan Syndrome 10	Pectus carinatum, Pectus excavatum, Pulmonic stenosis, Mitral valve prolapse, Left ventricular hy...	OMIM:616564
Joubert Syndrome With Ocular Defect	Highly arched eyebrow, Aganglionic megacolon, Low-set, posteriorly rotated ears, Encephalocele, C...	ORPHA:220493
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Nail dystrophy, Pili torti, Hypospadias, Conical tooth, Absent eyelashes, Selective tooth agenesi...	OMIM:106260
Pfeiffer Syndrome Type 2	Deviation of the thumb, Intestinal malrotation, Broad thumb, Hydrocephalus, Choanal atresia, Atre...	ORPHA:93259
Alagille Syndrome 1	Long nose, Elevated circulating hepatic transaminase concentration, Cholestasis, Prolonged neonat...	OMIM:118450
Microphthalmia, Syndromic 2	Sandal gap, Sensorineural hearing impairment, Bifid nasal tip, Pulmonic stenosis, Aortic valve st...	OMIM:300166
Ctcf-Related Neurodevelopmental Disorder	Sandal gap, Joint contracture of the 5th finger, Highly arched eyebrow, Prominent fingertip pads,...	ORPHA:363611
Kabuki Syndrome 1	Highly arched eyebrow, Prominent fingertip pads, Premature thelarche, Intestinal malrotation, Rec...	OMIM:147920
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Alopecia of scalp, Hepatomegaly, Oral ulcer, Abnormally low T cell receptor excision circle level...	OMIM:602450
Adams-Oliver Syndrome 4	Atrial septal defect, Ventricular septal defect, Microphthalmia, Umbilical hernia	OMIM:615297
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Fibular Hemimelia	Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog...	ORPHA:93323
Koolen-De Vries Syndrome	Ureteral duplication, Everted lower lip vermilion, Microdontia, Kyphosis, Pectus excavatum, Arach...	ORPHA:96169
Chromosome 22Q11.2 Deletion Syndrome, Distal	Highly arched eyebrow, Truncus arteriosus, Short stature, Cleft palate, Malar flattening, Smooth ...	OMIM:611867
Fryns Syndrome	Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Corneal opacity, Intestinal mal...	ORPHA:2059
Diamond-Blackfan Anemia 10	Congenital diaphragmatic hernia, Ectopic kidney, Macrocytic anemia, Morgagni diaphragmatic hernia...	OMIM:613309
Heart Defects-Limb Shortening Syndrome	Abnormal metaphysis morphology, Disproportionate short stature, Abnormal tricuspid valve morpholo...	ORPHA:1354
Schwartz-Jampel Syndrome, Type 1	Kyphoscoliosis, Flexion contracture of toe, Pectus carinatum, Wrist flexion contracture, Delayed ...	OMIM:255800
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Bilateral single transverse palmar creases, Abnormal palate morphology, Clinodactyly of the 5th f...	ORPHA:3236
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Decreased pineal volume, Cerebellar atrophy, Focal segmental glomerulosclerosis, Hearing impairme...	OMIM:301108
Holoprosencephaly 9	Solitary median maxillary central incisor, Optic nerve hypoplasia, Bilateral cleft palate, Underd...	OMIM:610829
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Hydranencephaly, Enlarged thorax, Low-set ears, Limitation of joint mobility, Camptodactyly of fi...	ORPHA:2570
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Sinusitis, Splenomegaly, Lymphopenia, Aplasia of the thymus, Recurrent pneumonia, Anterior rib cu...	OMIM:102700
Down Syndrome	Sandal gap, Hypoplastic iliac wing, Microtia, Abnormal fetal nasal bone visualization, Joint hype...	OMIM:190685
Arachnoid Cyst	Urinary incontinence, Abnormality of the endocrine system, Vertigo, Sciatica, Lower limb pain, En...	ORPHA:2356
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Syringomyelia, Abnormal vertebral morphology, Abnormal aortic va...	ORPHA:261197
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Short long bone, Flat acetabular roof, Short ribs, Hypoplastic pelv...	OMIM:616300
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Unilateral renal agenesis, Webbed neck, Hydranencephaly, Truncus arteriosus, Cleft palate, Short ...	OMIM:601355
Polycythemia Vera	Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Cerebral ischemia, Budd...	OMIM:263300
Agnathia-Otocephaly Complex	Situs inversus totalis, Polyhydramnios, Wide nose, Tracheomalacia, Synotia, Low-set ears, Narrow ...	OMIM:202650
Lethal Congenital Contracture Syndrome 10	Femoral bowing, Short long bone, Cardiomegaly, Adducted thumb, Long philtrum, Intrauterine growth...	OMIM:617022
Spondylocostal Dysostosis 4, Autosomal Recessive	Aplasia of posterior communicating artery, Chiari type II malformation, Pectus excavatum, Myelome...	OMIM:613686
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal autonomic nervous system physiology, Abnormal heart morphol...	ORPHA:85443
Bor Syndrome	Retrognathia, Renal insufficiency, Stenosis of the external auditory canal, Abnormal pinna morpho...	ORPHA:107
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Kyphoscoliosis, Mixed hearing impairment, Multiple joint dislocation, Repeated pneumothoraces, Pe...	ORPHA:536467
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Congenital Syphilis	Tibial bowing, Prolonged neonatal jaundice, Premature birth, Intrauterine growth retardation, Opt...	ORPHA:499009
Anencephaly 2	Anencephaly, Anophthalmia	OMIM:619452
X-Linked Intellectual Disability, Nascimento Type	Nail dystrophy, Low posterior hairline, Wide mouth, Overlapping toe, Oligohydramnios, Neutropenia...	ORPHA:163956
17Q11 Microdeletion Syndrome	Delayed puberty, Rhabdomyosarcoma, Multiple mucosal neuromas, Pheochromocytoma, Hypertension, Gas...	ORPHA:97685
Larsen Syndrome	Multiple carpal ossification centers, Spondylolysis, Pectus carinatum, Corneal opacity, Short met...	OMIM:150250
Nager Syndrome	Microtia, Joint stiffness, Wide mouth, Sparse lower eyelashes, Hypoplasia of the radius, Low-set,...	ORPHA:245
Coach Syndrome 1	Occipital encephalocele, Elevated circulating hepatic transaminase concentration, Intrahepatic bi...	OMIM:216360
Braddock-Carey Syndrome 2	Retrognathia, Hearing impairment, Atresia of the external auditory canal, Pierre-Robin sequence, ...	OMIM:619981
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum, Perimembranous ventricular septal defect, Anemia, Cardiomegaly, Hypos...	OMIM:620135
Pallister-Killian Syndrome	Kyphoscoliosis, Congenital diaphragmatic hernia, Everted lower lip vermilion, Intestinal malrotat...	OMIM:601803
Holoprosencephaly 7	Solitary median maxillary central incisor, Bilateral cleft palate, Unilateral cleft lip, Hypoplas...	OMIM:610828
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Abnormality of the pulmonary vasculature, Short ribs, Corneal op...	ORPHA:2092
Chromosome 13Q14 Deletion Syndrome	Everted lower lip vermilion, Umbilical hernia, Overlapping toe, Hip dislocation, Inguinal hernia,...	OMIM:613884
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of penis, Thyroid hypoplasia, Intestinal malrotation, Hypoplasia of the premaxilla, Um...	ORPHA:2166
Galloway-Mowat Syndrome 3	Hypertension, Cerebellar atrophy, Pectus excavatum, Arachnodactyly, Intrauterine growth retardati...	OMIM:617729
Bilateral Perisylvian Polymicrogyria	Gastroesophageal reflux, Abnormality of masticatory muscle, Cerebellar vermis hypoplasia, Limb hy...	ORPHA:98889
Dilated Cardiomyopathy With Ataxia	Optic atrophy, 3-Methylglutaconic aciduria, Muscular ventricular septal defect, Elevated circulat...	ORPHA:66634
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Pectus carinatum, Everted lower lip vermilion, Kyphosis, Contracture of the proxima...	ORPHA:464738
Viss Syndrome	Rocker bottom foot, Retrognathia, Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tort...	OMIM:619472
Primary Ciliary Dyskinesia	Chronic otitis media, Abnormal atrial arrangement, Clubbing, Abnormal inferior vena cava morpholo...	ORPHA:244
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormal autonomic nervous system physiology, Bifid uvula, Abnormal heart morphology, Intrauterin...	ORPHA:453499
Brooke-Spiegler Syndrome	Basal cell carcinoma, Trichoepithelioma, Skin appendage neoplasm, Facial palsy, Abnormal auditory...	ORPHA:79493
Familial Hyperaldosteronism Type Ii	Abnormal circulating renin, Hypertension, Secretory adrenocortical adenoma, Adrenal hyperplasia, ...	ORPHA:404
Otopalatodigital Syndrome Type 2	Developmental glaucoma, Abnormal pinna morphology, Glossoptosis, Myelomeningocele, Flared iliac w...	ORPHA:90652
16P13.11 Microduplication Syndrome	Transposition of the great arteries, Pectus excavatum, Arachnodactyly, Coarctation of aorta, Hand...	ORPHA:261243
Mucopolysaccharidosis Type 2, Severe Form	Sensorineural hearing impairment, Hypertension, Corneal opacity, Cardiomyopathy, Temporomandibula...	ORPHA:217085
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Anterior encephalocele, Bilateral cleft palate, Coloboma, Low-set ears, Scoliosis, Omphalocele, C...	OMIM:601357
Congenital Disorder Of Glycosylation, Type It	Delayed puberty, Elevated circulating hepatic transaminase concentration, Bifid uvula, Cardiomega...	OMIM:614921
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal metaphysis morphology, Abnormal clavicle morphology, Rhizomelia, Proximal placement of t...	ORPHA:93267
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short ribs, Decreased skull ossification, Ascites, Multiple prenatal fractures, Unilateral cleft ...	OMIM:616897
Wrinkly Skin Syndrome	Pectus excavatum, Microdontia, Kyphosis, Sparse hair, Umbilical hernia, Long philtrum, Joint hype...	OMIM:278250
Mucopolysaccharidosis Type 2, Attenuated Form	Sensorineural hearing impairment, Hypertension, Corneal opacity, Cardiomyopathy, Temporomandibula...	ORPHA:217093
Fraser Syndrome	Anorectal anomaly, Hypoplasia of penis, Dental crowding, Abnormal pinna morphology, Microtia, Mye...	ORPHA:2052
Giant Cell Arteritis	Vertigo, Cerebral ischemia, Joint stiffness, Pericarditis, Epistaxis, Optic atrophy, Diabetes ins...	ORPHA:397
Familial Hyperaldosteronism Type I	Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating renin, Hypertension, ...	ORPHA:403
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Vertebral segmentation defect, Split hand, Short stature, Foot polydactyly, Aplasia of the thymus...	ORPHA:3004
Blau Syndrome	Polyarticular arthritis, Hypertension, Abnormal optic nerve morphology, Retinopathy, Pericarditis...	ORPHA:90340
Gorlin Syndrome	Ovarian fibroma, Arachnodactyly, Neoplasm, Abnormality of the sense of smell, Basal cell carcinom...	ORPHA:377
Birk-Aharoni Syndrome	Muscular ventricular septal defect, Macrocytic anemia, Long nasal bridge, Hearing impairment, Mic...	OMIM:620071
Adams-Oliver Syndrome 6	Truncus arteriosus, Esophageal varix, Portal hypertension, Tricuspid regurgitation, Renal hypopla...	OMIM:616589
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Oculocerebrocutaneous Syndrome	Microphthalmia, Orbital encephalocele, Anophthalmia	OMIM:164180
Craniofacial Microsomia 1	Occipital encephalocele, Ectopic kidney, Sensorineural hearing impairment, Microtia, Underdevelop...	OMIM:164210
Yuan-Harel-Lupski Syndrome	Talipes valgus, Bicuspid aortic valve, Syringomyelia, Decreased nerve conduction velocity, Clinod...	OMIM:616652
Joubert Syndrome With Renal Defect	Orofacial cleft, Molar tooth sign on MRI, Aganglionic megacolon, Low-set, posteriorly rotated ear...	ORPHA:220497
Autosomal Dominant Spondylocostal Dysostosis	Spina bifida occulta, Short thorax, Anteverted nares, Scoliosis, Hyperlordosis, Vertebral segment...	ORPHA:1797
Frank-Ter Haar Syndrome	Kyphoscoliosis, Developmental glaucoma, Broad alveolar ridges, Broad clavicles, Short long bone, ...	OMIM:249420
Ring Chromosome 21 Syndrome	Diabetes insipidus, Scoliosis, Narrow palm, Short stature, Abnormal heart morphology, Holoprosenc...	ORPHA:1445
Bleeding Disorder, Platelet-Type, 22	Gastrointestinal hemorrhage, Impaired ADP-induced platelet aggregation, Impaired collagen-induced...	OMIM:618462
Familial Thyroid Dyshormonogenesis	Elevated circulating thyroid-stimulating hormone concentration, Bradycardia, Sensorineural hearin...	ORPHA:95716
Phace Syndrome	Abnormal carotid artery morphology, Optic nerve hypoplasia, Abnormal sternum morphology, Abnormal...	ORPHA:42775
Hypertelorism-Microtia-Facial Clefting Syndrome	Microtia, Bifid nasal tip, Median cleft palate, Atresia of the external auditory canal, Conductiv...	ORPHA:2213
Branchiootorenal Syndrome 1	Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Microdontia, Intestinal mal...	OMIM:113650
Trichohepatoenteric Syndrome 1	Microtia, Cholestasis, Pulmonic stenosis, Renal cortical microcysts, Bifid uvula, Wide mouth, Spl...	OMIM:222470
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, Optic nerve hypoplasia, Sensorineural hearing impairment, Abnormal...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, Optic nerve hypoplasia, Sensorineural hearing impairment, Abnormal...	ORPHA:352665
Meckel Syndrome, Type 4	Molar tooth sign on MRI, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker mal...	OMIM:611134
Multiple Synostoses Syndrome 1	Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Pec...	OMIM:186500
Orofaciodigital Syndrome Xv	Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Anteverted nares, Low-set ears, Postaxial ...	OMIM:617127
Branchiogenic Deafness Syndrome	Mixed hearing impairment, Astigmatism, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing...	ORPHA:50815
Fumarase Deficiency	Optic atrophy, Perimembranous ventricular septal defect, Intrahepatic cholestasis, Bilateral feta...	OMIM:606812
Metatropic Dysplasia	Narrow greater sciatic notch, Kyphoscoliosis, Disproportionate short-limb short stature, Relative...	OMIM:156530
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Abnormal aortic arch morphology, Abnormality of blood circulation, Abnormal...	ORPHA:860
Combined Pituitary Hormone Deficiencies, Genetic Forms	Delayed puberty, Absence of secondary sex characteristics, Pituitary dwarfism, Optic nerve hypopl...	ORPHA:95494
Giant platelet syndrome with thrombocytopenia	Thrombocytopenia, Giant platelets, Gastrointestinal hemorrhage	OMIM:137560
Holoprosencephaly 13, X-Linked	Solitary median maxillary central incisor, Optic nerve hypoplasia, Microtia, Septo-optic dysplasi...	OMIM:301043
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
Kbg Syndrome	Radial deviation of finger, Low posterior hairline, Ulnar deviation of the 2nd finger, Delayed sk...	OMIM:148050
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Cheilitis, Corneal erosion, Oligodactyly, Corneal opacity, Kyphosis, Delayed skeletal maturation,...	ORPHA:2273
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypertension, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol ...	OMIM:201910
Cohen Syndrome	Delayed puberty, Abnormal hip bone morphology, Sandal gap, Sensorineural hearing impairment, Pect...	ORPHA:193
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Optic nerve hypoplasia, Cardiomyopathy, Olivopontocerebellar hypoplasia,...	ORPHA:370959
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Sensorineural hearing impairment, Abnormal pinna morphology, Broad alveolar ridges, Syndactyly, I...	OMIM:616975
Mirage Syndrome	Rocker bottom foot, Myelodysplasia, Leukopenia, Lymphopenia, Intrauterine growth retardation, Adr...	OMIM:617053
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Congenital diaphragmatic hernia, Multiple joint dislocation, Developmental glaucoma, Sandal gap, ...	OMIM:245600
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Delayed puberty, Wide nasal base, Cardiomyopathy, Neoplasm, Long philtrum, Overlapping toe, Joint...	ORPHA:480880
Peroxisome Biogenesis Disorder 2A (Zellweger)	Palpebral edema, Abnormal heart morphology, Intrauterine growth retardation, Optic nerve dysplasi...	OMIM:214110
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ...	OMIM:155100
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Wide nasal base, Femoral bowing, Short long bone, Abnormal autonomic ...	OMIM:601559
Kniest Dysplasia	Enlarged metaphyses, Aplasia/Hypoplasia of the lens, Short long bone, Lattice retinal degeneratio...	ORPHA:485
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Calf muscle hypertrophy, Hyperlordosis, Cerebellar atrophy, Kyphosis, Dysphagia, Thigh hypertroph...	OMIM:606612
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Abnormal pinna morphology, Thoracic kyphoscoliosis, Pectus excavatum, Arterial dissection, Mitral...	ORPHA:1900
Sweeney-Cox Syndrome	Microtia, Short distal phalanx of finger, Widow's peak, Short philtrum, Patent foramen ovale, Cho...	OMIM:617746
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Noonan Syndrome With Multiple Lentigines	Sensorineural hearing impairment, Pectus carinatum, Pectus excavatum, Pulmonic stenosis, Abnormal...	ORPHA:500
Mucopolysaccharidosis, Type Vii	Narrow greater sciatic notch, Sensorineural hearing impairment, Pectus carinatum, Corneal opacity...	OMIM:253220
Duane-Radial Ray Syndrome	Pectoralis hypoplasia, Sandal gap, Sensorineural hearing impairment, Short humerus, Absent thumb,...	OMIM:607323
Trisomy 8P	Clinodactyly of the 5th toe, Retrognathia, Abnormal middle ear morphology, Clinodactyly of the 2n...	ORPHA:264450
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Increased circulating ACTH level, Congenital adrenal hyperplasia	OMIM:613571
Apert Syndrome	Chronic otitis media, Limited elbow movement, Pectus carinatum, Broad thumb, Bifid uvula, Syndact...	OMIM:101200
Mucopolysaccharidosis Type 2	Sensorineural hearing impairment, Hypertension, Corneal opacity, Cardiomyopathy, Temporomandibula...	ORPHA:580
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
45,X/46,Xy Mixed Gonadal Dysgenesis	Delayed puberty, Developmental glaucoma, Prolonged QT interval, Pectus excavatum, Low posterior h...	ORPHA:1772
Gapo Syndrome	Palpebral edema, Asymmetry of the thorax, Abnormal form of the vertebral bodies, Everted lower li...	ORPHA:2067
Transaldolase Deficiency	Cirrhosis, Hydrops fetalis, Anemia, Coarctation of aorta, Hepatosplenomegaly, Thrombocytopenia, E...	ORPHA:101028
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl...	OMIM:619271
Congenital Disorder Of Glycosylation, Type Iiw	Elevated circulating hepatic transaminase concentration, Pectus carinatum, Pectus excavatum, Prol...	OMIM:619525
Acalvaria	Abnormal lung lobation, Hydrocephalus, Postaxial hand polydactyly, Spina bifida, Omphalocele, Cle...	ORPHA:945
T-Cell Immunodeficiency With Thymic Aplasia	Chronic otitis media, Lymphadenopathy, Thyroiditis, Decreased proportion of naive T cells, T lymp...	ORPHA:83471
Cerebrocostomandibular Syndrome	Clinodactyly of the 5th finger, Bell-shaped thorax, Webbed neck, Hydranencephaly, Meningocele, Sh...	ORPHA:1393
Atelosteogenesis, Type I	Disproportionate short-limb short stature, Clubbing, Tibial bowing, Short metacarpal, Short humer...	OMIM:108720
Neurofaciodigitorenal Syndrome	Triphalangeal thumb, Abnormal tragus morphology, Abnormal metacarpal morphology, Abnormality of t...	ORPHA:2673
Meckel Syndrome	Ureteral duplication, Anencephaly, Pancreatic fibrosis, Oligohydramnios, Optic atrophy, Abnormal ...	ORPHA:564
Trisomy 20P	Reduced bone mineral density, Abnormal hip bone morphology, Abnormal form of the vertebral bodies...	ORPHA:261318
Cerebrofaciothoracic Dysplasia	Low posterior hairline, Wide mouth, Broad philtrum, Ventriculomegaly, Low-set, posteriorly rotate...	ORPHA:1394
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Bilateral single transverse palmar creases, Long nose, Retrognathia, Neoplasm of the tongue, Thyr...	ORPHA:3047
Ear-Patella-Short Stature Syndrome	Retrognathia, Hypoplasia of penis, Delayed skeletal maturation, Bifid uvula, Severe short stature...	ORPHA:2554
Genitopalatocardiac Syndrome	Transposition of the great arteries, Hypospadias, Right aortic arch, Low-set ears, Renal cyst, Cl...	OMIM:231060
Holt-Oram Syndrome	Abnormal coronary artery origin, Aplasia of the pectoralis major muscle, Proximal placement of th...	OMIM:142900
Ehlers-Danlos Syndrome, Classic-Like, 2	Cervical C2/C3 vertebral fusion, Facet joint arthrosis, Low posterior hairline, Mitral valve prol...	OMIM:618000
Refractory Anemia	Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Abnormal cardiac...	ORPHA:98826
Phace Association	Optic atrophy, Subglottic hemangioma, Vascular dilatation, Aortic aneurysm, Optic nerve hypoplasi...	OMIM:606519
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Hypoplasia of the radius, Unilateral renal agenesis, Stenosis of the exte...	OMIM:614900
Al-Gazali-Bakalinova Syndrome	Polydactyly, Molar tooth sign on MRI, Genu valgum, Triangular mouth, Inguinal hernia, Pectus cari...	OMIM:607131
Cog1-Cdg	Kyphoscoliosis, Microtia, Short long bone, Flat acetabular roof, Long philtrum, Coxa valga, Butte...	ORPHA:263508
Duplication Of The Pituitary Gland	Retrognathia, Wide mouth, Encephalocele, Abnormal pituitary gland morphology, Hearing impairment,...	ORPHA:314621
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:300946
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Thrombocytopenia, Macrothrombocytopenia	OMIM:124900
Branchiootic Syndrome	Abnormal middle ear morphology, Abnormality of the inner ear, Sensorineural hearing impairment, F...	ORPHA:52429
Congenital Heart Block	Peripheral edema, Hydrops fetalis, Patent foramen ovale, Pleural effusion, Pericardial effusion, ...	ORPHA:60041
Lacrimoauriculodentodigital Syndrome	Recurrent corneal erosions, Mixed hearing impairment, Corneal neovascularization, Sensorineural h...	ORPHA:2363
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Bone marrow hypocellularity, Absent thumb, Colpocephaly, Intrauterine gro...	OMIM:609053
Multiple Pterygium Syndrome, X-Linked	Short finger, Hypoplastic heart, Polyhydramnios, Multiple pterygia, Joint dislocation, Amyoplasia...	OMIM:312150
Becker Nevus Syndrome	Abnormal tibia morphology, Spina bifida occulta, Pectus carinatum, Scoliosis, Pectus excavatum, K...	ORPHA:64755
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	High anterior hairline, Muscular ventricular septal defect, Single transverse palmar crease, Notc...	OMIM:620062
Joubert Syndrome 36	Molar tooth sign on MRI, Highly arched eyebrow, Sensorineural hearing impairment, Pectus carinatu...	OMIM:618763
Fanconi Anemia	Abnormal carotid artery morphology, Abnormal femur morphology, Arteriovenous malformation, Reduce...	ORPHA:84
Maternal Phenylketonuria	Hypoplastic helices, Deviated nasal septum, Bladder exstrophy, Esophageal atresia, Anteverted nar...	ORPHA:2209
Thrombocytopenia 4	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
Hemifacial Microsomia With Radial Defects	Short mandibular rami, Orofacial cleft, Triphalangeal thumb, Non-midline cleft of the upper lip, ...	OMIM:141400
Townes-Brocks Syndrome 1	Clinodactyly of the 5th toe, Sensorineural hearing impairment, Microtia, Tracheoesophageal fistul...	OMIM:107480
Erythroleukemia, Familial, Susceptibility To	Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplasia, Leukemia	OMIM:133180
Myofibrillar Myopathy 11	Decreased fetal movement, Type 1 muscle fiber predominance, Calf muscle hypertrophy, EMG: myopath...	OMIM:619178
Tarp Syndrome	Rocker bottom foot, Meckel diverticulum, Microtia, Glossoptosis, Pectus excavatum, Intrauterine g...	OMIM:311900
Hartsfield Syndrome	Low-set, posteriorly rotated ears, Encephalocele, Non-midline cleft of the upper lip, Split hand,...	ORPHA:2117
Cornelia De Lange Syndrome 6	Highly arched eyebrow, Pectus carinatum, Arachnodactyly, Delayed skeletal maturation, Posterior r...	OMIM:620568
Lipoid Congenital Adrenal Hyperplasia	Adrenogenital syndrome, Congenital adrenal hyperplasia	OMIM:201710
Brachytelephalangic Chondrodysplasia Punctata	Mixed hearing impairment, Optic nerve hypoplasia, Short distal phalanx of toe, Short distal phala...	ORPHA:79345
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	OMIM:131400
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Retrognathia, Biliary hyperplasia, Arachnodactyly, Contracture of the distal interphalangeal join...	ORPHA:83617
Thanatophoric Dysplasia	Disproportionate short-limb short stature, Kyphosis, Joint stiffness, Joint hypermobility, Intrau...	ORPHA:2655
Microphthalmia, Syndromic 11	Cleft upper lip, Cleft palate, Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
Gray Platelet Syndrome	Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly, Epistaxis	ORPHA:721
Trisomy 1Q	Congenital diaphragmatic hernia, Arachnodactyly, Ventriculomegaly, Hydrops fetalis, Short thorax,...	ORPHA:261344
Moyamoya Disease With Early-Onset Achalasia	Hypertension, Thrombocytopenia, Raynaud phenomenon, Abnormal platelet aggregation	ORPHA:401945
Schimmelpenning-Feuerstein-Mims Syndrome	Kyphoscoliosis, Osteopenia, Basal cell carcinoma, Hypophosphatemic rickets, Horseshoe kidney, Abn...	OMIM:163200
Structural Heart Defects And Renal Anomalies Syndrome	Tricuspid atresia, Webbed neck, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, L...	OMIM:617478
Chromosome 6Pter-P24 Deletion Syndrome	Rocker bottom foot, Sensorineural hearing impairment, Dental crowding, Pectus excavatum, Umbilica...	OMIM:612582
Methimazole Embryofetopathy	Polyhydramnios, Esophageal atresia, Hypospadias, Abnormal aortic morphology, Choanal atresia, Tra...	ORPHA:1923
Microphthalmia, Syndromic 5	Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Coloboma, Short stature, Cleft palate, Ca...	OMIM:610125
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
X-Linked Mandibulofacial Dysostosis	Low-set, posteriorly rotated ears, Webbed neck, Sensorineural hearing impairment, Branchial anoma...	ORPHA:1131
Hadziselimovic Syndrome	Thick lower lip vermilion, Anteverted nares, Ventricular hypertrophy, Low-set ears, High palate, ...	OMIM:612946
Branchiogenic-Deafness Syndrome	Mixed hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear ossicle...	OMIM:609166
Coffin-Lowry Syndrome	Abnormal form of the vertebral bodies, Sensorineural hearing impairment, Pectus carinatum, Everte...	ORPHA:192
Ablepharon Macrostomia Syndrome	Corneal erosion, Hypoplasia of penis, Microtia, Corneal opacity, Microdontia, Wide mouth, Sparse ...	ORPHA:920
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Kyphoscoliosis, Flared iliac wing, Delayed skeletal maturation, Flattened epiphysis, Wormian bone...	OMIM:300232
Cowden Syndrome 1	Pectus excavatum, Kyphosis, Ovarian cyst, Lymphopenia, Subcutaneous lipoma, Fibroadenoma of the b...	OMIM:158350
Schimke Immuno-Osseous Dysplasia	Abnormal femoral head morphology, Abnormal intestine morphology, Corneal opacity, Arteriosclerosi...	ORPHA:1830
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor	ORPHA:46532
Liver Disease, Severe Congenital	Left atrial enlargement, Nail dystrophy, Elevated circulating hepatic transaminase concentration,...	OMIM:619991
Poland Syndrome	Unilateral hypoplasia of pectoralis major muscle, Hypoplasia of latissimus dorsi muscle, Hypoplas...	OMIM:173800
Spondylometaphyseal Dysplasia, Axial	Optic atrophy, Narrow greater sciatic notch, Rhizomelia, Platyspondyly, Narrow chest, Scoliosis, ...	OMIM:602271
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Abnormality of the philtrum,...	ORPHA:3268
Acrocallosal Syndrome	Everted upper lip vermilion, Pulmonary valve defects, Abnormal pinna morphology, Abnormal oral fr...	OMIM:200990
Atypical Werner Syndrome	Delayed puberty, Rocker bottom foot, Premature graying of hair, Reduced bone mineral density, Cal...	ORPHA:79474
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Recurrent lower respiratory tract infections, Limb hype...	OMIM:619170
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Anemia, Abnormal hemoglobin	ORPHA:3319
Down Syndrome	Delayed puberty, Bilateral single transverse palmar creases, Sandal gap, Round ear, Microdontia, ...	ORPHA:870
Tarp Syndrome	Rocker bottom foot, Small earlobe, Glossoptosis, Pectus excavatum, Abnormal duodenum morphology, ...	ORPHA:2886
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Scimitar Syndrome	Bronchogenic cyst, Pulmonary sequestration, Mitral atresia, Left-to-right shunt, Hypoplasia of th...	ORPHA:185
Noonan Syndrome 1	Kyphoscoliosis, Radial deviation of finger, Neurofibrosarcoma, Superior pectus carinatum, Sensori...	OMIM:163950
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia, Epistaxis	OMIM:616913
Tetrasomy 9P	Bilateral single transverse palmar creases, Abnormal number of permanent teeth, Abnormal earlobe ...	ORPHA:3310
Von Willebrand Disease, Type 2	Thrombocytopenia, Epistaxis	OMIM:613554
Mucopolysaccharidosis, Type Ivb	Cervical myelopathy, Hyperlordosis, Corneal opacity, Kyphosis, Joint stiffness, Aortic valve sten...	OMIM:253010
Tricuspid Atresia	Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for...	ORPHA:1209
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus	Rocker bottom foot, Bilateral single transverse palmar creases, Single transverse palmar crease, ...	OMIM:133705
Renpenning Syndrome	Sensorineural hearing impairment, Round ear, Pectus excavatum, Joint stiffness, Severe short stat...	ORPHA:3242
Diastrophic Dysplasia	Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Joint stiffness, Sy...	ORPHA:628
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal neck blood vessel morphology, Abnormal lymph node morphology, Bone pain, Neoplasm of hea...	ORPHA:319487
Dextrocardia	Meckel diverticulum, Intestinal malrotation, Abnormal heart morphology, T-wave inversion, Hydroce...	ORPHA:1666
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia, Hypertrophic cardiomyopathy	ORPHA:295
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Heart Defects, Congenital, And Other Congenital Anomalies	Congenital diaphragmatic hernia, Ureteral duplication, Biliary atresia, Microcolon, Intestinal ma...	OMIM:600001
Cowden Syndrome 5	Pectus excavatum, Kyphosis, Ovarian cyst, Subcutaneous lipoma, Thyroiditis, Scoliosis, Furrowed t...	OMIM:615108
Peroxisome Biogenesis Disorder 1A (Zellweger)	Rocker bottom foot, Breech presentation, Sensorineural hearing impairment, Delayed skeletal matur...	OMIM:214100
Peroxisome Biogenesis Disorder 12A (Zellweger)	Decreased fetal movement, Elevated circulating hepatic transaminase concentration, Cholelithiasis...	OMIM:614886
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Short long bone, Short ribs, Splenomegaly, Accessory oral frenulum, Cone-shaped epiphysis, Hamart...	OMIM:617088
Basal Cell Nevus Syndrome 1	Kyphoscoliosis, Cardiac rhabdomyoma, Hamartomatous stomach polyps, Ovarian fibroma, Abnormal ster...	OMIM:109400
Joubert Syndrome 1	Dysgenesis of the cerebellar vermis, Highly arched eyebrow, Occipital myelomeningocele, Enlarged ...	OMIM:213300
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Platyspondyly, Wide anterior fontanel, Shortening of all metacarpals, Bilateral talipes equinovar...	OMIM:601356
Cartilage-Hair Hypoplasia	Abnormal bone ossification, Biconvex vertebral bodies, Abnormal hip bone morphology, Disproportio...	ORPHA:175
Fraser Syndrome 2	Unilateral renal agenesis, Wide nose, Short thorax, Low-set ears, Narrow mouth, Anal atresia, Hyp...	OMIM:617666
Cowden Syndrome 6	Pectus excavatum, Kyphosis, Ovarian cyst, Subcutaneous lipoma, Fibroadenoma of the breast, Thyroi...	OMIM:615109
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Facial diplegia, Ventriculomegaly, Decreased nerve conduction velocity, Peripheral axonal neuropa...	OMIM:218000
Multiple Pterygium Syndrome, Lethal Type	Short finger, Hypoplastic heart, Polyhydramnios, Multiple pterygia, Joint dislocation, Amyoplasia...	OMIM:253290
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Congenital Heart Defects, Multiple Types, 4	Atrioventricular canal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis,...	OMIM:615779
Cohen Syndrome	Delayed puberty, Bone spicule pigmentation of the retina, Short metacarpal, Leukopenia, Mitral va...	OMIM:216550
Osteopathia Striata With Cranial Sclerosis	Flexion contracture of toe, Dental crowding, Microtia, Pectus excavatum, Intestinal malrotation, ...	OMIM:300373
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Intestinal malrotation,...	OMIM:208540
Williams Syndrome	Chronic otitis media, Abnormal carotid artery morphology, Everted lower lip vermilion, Wide mouth...	ORPHA:904
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Rocker bottom foot, Kyphoscoliosis, Abnormal hip bone morphology, Abnormal sternum morphology, Sh...	ORPHA:457395
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bicuspid aortic valve, Sacral dimple, Unilateral renal agenesis, Short thorax, Anomalous origin o...	OMIM:618845
Chondrodysplasia, Blomstrand Type	Stillbirth, Abnormal vertebral morphology, Hydrops fetalis, Polyhydramnios, Narrow chest, Flared ...	OMIM:215045
Treacher-Collins Syndrome	Retrognathia, Hypoplasia of penis, Microtia, Glossoptosis, Thyroid hypoplasia, Tracheoesophageal ...	ORPHA:861
1Q41Q42 Microdeletion Syndrome	Congenital diaphragmatic hernia, Abnormality iris morphology, Underdeveloped nasal alae, Hypergon...	ORPHA:250999
Chops Syndrome	Cervical C2/C3 vertebral fusion, Splenomegaly, Long philtrum, Thickened helices, Optic atrophy, A...	OMIM:616368
Noonan Syndrome 9	Hydroureter, Webbed neck, Ventricular septal defect, Curly hair, Short stature, Pulmonic stenosis...	OMIM:616559
Osteogenesis Imperfecta	Intestinal obstruction, Mixed hearing impairment, Abnormal femur morphology, Reduced bone mineral...	ORPHA:666
Atelosteogenesis Type I	Short long bone, Multiple renal cysts, Malrotation of colon, Thoracic hypoplasia, Abnormal fibula...	ORPHA:1190
Joubert Syndrome With Oculorenal Defect	Molar tooth sign on MRI, Aganglionic megacolon, Low-set, posteriorly rotated ears, Encephalocele,...	ORPHA:2318
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Brain-Lung-Thyroid Syndrome	Sensorineural hearing impairment, Megacystis, Abnormal cardiac septum morphology, Hypospadias, Pa...	ORPHA:209905
Joubert Syndrome 37	Molar tooth sign on MRI, Hepatomegaly, Wide nose, Cerebellar vermis hypoplasia, Anteverted nares,...	OMIM:619185
Mucopolysaccharidosis Type 3	Chronic otitis media, Mixed hearing impairment, Reduced bone mineral density, Abnormal form of th...	ORPHA:581
Yunis-Varon Syndrome	Rocker bottom foot, Broad secondary alveolar ridge, Absent sternal ossification, Abnormal pinna m...	ORPHA:3472
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Peripheral hypomyelination, Short-segment aganglionic megacolon, Sensorineural hearing impairment...	OMIM:609136
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Congenital diaphragmatic hernia, Retrognathia, Solitary median maxillary central incisor, Highly ...	OMIM:301044
Xq21 Microdeletion Syndrome	Sensorineural hearing impairment, Hypertension, Upper limb muscle weakness, Delayed skeletal matu...	ORPHA:1435
Developmental And Speech Delay Due To Sox5 Deficiency	Optic atrophy, Narrow palate, Butterfly vertebrae, Hyperplasia of the maxilla, Gastroesophageal r...	ORPHA:313892
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Proximal placement of thumb, Abnormal pinna morphology, Enlarged...	ORPHA:251071
Acquired Idiopathic Sideroblastic Anemia	Congestive heart failure, Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancyto...	ORPHA:75564
Fibrochondrogenesis 1	Narrow greater sciatic notch, Abnormal pinna morphology, Short long bone, Short ribs, Dumbbell-sh...	OMIM:228520
Ring Chromosome 7 Syndrome	Highly arched eyebrow, Small earlobe, Severe intrauterine growth retardation, Bifid uvula, Hypogo...	ORPHA:1449
Xk Aprosencephaly Syndrome	Polyhydramnios, Atrial septal defect, Ventricular septal defect, Microphthalmia	ORPHA:3469
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Thrombocytopenia, S...	OMIM:607616
Meckel Syndrome 14	Occipital encephalocele, Retrognathia, Syndactyly, Oligohydramnios, Polycystic kidney dysplasia, ...	OMIM:619879
Muscle-Eye-Brain Disease	Optic atrophy, Meningocele, Hydrocephalus, Aplasia/Hypoplasia of the cerebellum, Holoprosencephal...	ORPHA:588
8P Inverted Duplication/Deletion Syndrome	Retrognathia, Everted lower lip vermilion, Pectus excavatum, Abnormal heart morphology, Wide mout...	ORPHA:96092
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Congenital diaphragmatic hernia, Enlarged kidney, Short greater sci...	OMIM:312870
Distal Deletion 17Q	Bilateral single transverse palmar creases, Abnormal hip bone morphology, Abnormal form of the ve...	ORPHA:1597
Peroxisome Biogenesis Disorder 5A (Zellweger)	Palpebral edema, Sensorineural hearing impairment, Cerebellar atrophy, Cholestasis, Persistent op...	OMIM:614866
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	3-Methylglutaconic aciduria, Elevated circulating hepatic transaminase concentration, Sensorineur...	ORPHA:17
Coarctation Of Aorta	Coarctation of aorta, Hypoplastic left heart	OMIM:120000
Kniest Dysplasia	Tibial bowing, Pectus excavatum, Dumbbell-shaped long bone, Hypoplastic pelvis, Dumbbell-shaped f...	OMIM:156550
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Clinodactyly of the 5th toe, Long nose, Retrognathia, Proximal placement of thumb, Colpocephaly, ...	OMIM:620113
Lenz-Majewski Hyperostotic Dwarfism	Sensorineural hearing impairment, Broad clavicles, Delayed skeletal maturation, Syndactyly, Spars...	OMIM:151050
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Bilateral single transverse palmar creases, Solitary median maxillary central incisor, Intestinal...	OMIM:619657
Frontometaphyseal Dysplasia 2	Delayed puberty, Dislocated radial head, Sensorineural hearing impairment, Abnormal pinna morphol...	OMIM:617137
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Mucopolysaccharidosis, Type Iva	Cervical myelopathy, Pectus carinatum, Hyperlordosis, Kyphosis, Wide mouth, Constricted iliac win...	OMIM:253000
Meckel Syndrome, Type 2	Polydactyly, Anencephaly, Encephalocele, Meningocele, Dandy-Walker malformation, Postaxial hand p...	OMIM:603194
Nanophthalmos	Microphthalmia	ORPHA:35612
Atelosteogenesis Type Ii	Wide nasal base, Sandal gap, Bilateral cleft palate, Tracheobronchomalacia, Short ribs, Short met...	ORPHA:56304
Deafness, Conductive, With Ptosis And Skeletal Anomalies	Chronic otitis media, Clinodactyly of the 5th finger, Abnormality of the dentition, Atresia of th...	OMIM:221320
Coxoauricular Syndrome	Abnormal femur morphology, Reduced bone mineral density, Microtia, Abnormal pelvic girdle bone mo...	ORPHA:1508
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Restrictive Dermopathy 1	Rocker bottom foot, Kyphoscoliosis, Ureteral duplication, Narrow nasal ridge, Temporomandibular j...	OMIM:275210
Platelet Glycoprotein Iv Deficiency	Thrombocytopenia, Giant platelets	OMIM:608404
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Tarsal synostosis, Abnormality of the wrist, Bilateral conductive hearing impairment, Abnormality...	ORPHA:2010
Alagille Syndrome	Delayed puberty, Long nose, Abnormal form of the vertebral bodies, Hypertension, Cholestasis, Del...	ORPHA:52
Shprintzen-Goldberg Craniosynostosis Syndrome	Dislocated radial head, Pectus carinatum, Abnormal pinna morphology, Pectus excavatum, Arachnodac...	OMIM:182212
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal metaphysis morphology, Thin vermilion border, Short nose, Reduced bone mineral density, ...	ORPHA:2370
Trichohepatoneurodevelopmental Syndrome	Decreased liver function, Steatorrhea, Dental crowding, Pectus excavatum, Microdontia, Premature ...	OMIM:618268
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Elevated circulating thyroid-stimulating hormone concentration, Delayed epiphyseal ossification, ...	ORPHA:226313
Bohring-Opitz Syndrome	Retrognathia, Bradycardia, Retinal atrophy, Pectus excavatum, Lower limb hypertonia, Cardiomegaly...	ORPHA:97297
Kallmann Syndrome-Heart Disease Syndrome	Delayed puberty, Partial anosmia, Sensorineural hearing impairment, Delayed skeletal maturation, ...	ORPHA:2326
Spondylocostal Dysostosis 3, Autosomal Recessive	Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,...	OMIM:609813
Bohring-Opitz Syndrome	Retrognathia, Hyperechogenic pancreas, Dislocated radial head, Broad alveolar ridges, Bilateral c...	OMIM:605039
Dyrk1A-Related Intellectual Disability Syndrome	Corneal opacity, Pectus excavatum, Kyphosis, Aortic valve stenosis, Arachnodactyly, Intrauterine ...	ORPHA:464306
Renal-Hepatic-Pancreatic Dysplasia 2	Abnormal lung lobation, Stillbirth, Situs inversus totalis, Hepatomegaly, Enlarged kidney, Talipe...	OMIM:615415
Hb Bart'S Hydrops Fetalis	Polyhydramnios, Hydrops fetalis, Pericarditis, Pallor, Oligohydramnios	ORPHA:163596
Martsolf Syndrome 1	Slender ulna, Pectus carinatum, Cardiomyopathy, Short metacarpal, Pectus excavatum, Low posterior...	OMIM:212720
Glossopharyngeal Neuralgia	Mandibular pain, Abnormal palate morphology, Abnormal glossopharyngeal nerve morphology, Ear pain...	ORPHA:221098
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated circulating hepatic transaminase concentration, Facial diplegia, Cerebellar atrophy, Noc...	ORPHA:254892
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Long nose, Dental crowding, Pectus excavatum, Broad thumb, Arachnodactyly, Joint hypermobility, N...	OMIM:309520
Truncus Arteriosus	Adrenocortical abnormality, Pulmonic stenosis, Abnormal heart morphology, Intrauterine growth ret...	ORPHA:3384
Cataract-Intellectual Disability-Hypogonadism Syndrome	Abnormality of the hand, Low-set, posteriorly rotated ears, Short philtrum, Tooth malposition, Ab...	ORPHA:1387
Chilton-Okur-Chung Neurodevelopmental Syndrome	Asymmetry of the thorax, Highly arched eyebrow, Sensorineural hearing impairment, Pectus excavatu...	OMIM:619841
Axial Spondylometaphyseal Dysplasia	Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short...	ORPHA:168549
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Retinal arterial tortuosity, Highly arched eyebrow, Everted lower lip vermilion, Pectus excavatum...	OMIM:620371
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Midclavicular aplasia, Mixed hearing impairment, Ureteral duplic...	OMIM:305600
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Linear Skin Defects With Multiple Congenital Anomalies 2	Congenital diaphragmatic hernia, Short nose, Nail dystrophy, Sandal gap, Highly arched eyebrow, V...	OMIM:300887
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Thrombocytopenia, Monocytosis, Anemia, Neutropenia	OMIM:620534
Schwartz-Jampel Syndrome	Spinal rigidity, Flexion contracture of toe, Pectus carinatum, Hyperlordosis, Everted lower lip v...	ORPHA:800
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal neck blood vessel morphology, Renal cortical adenoma, Abnormal lymph node morphology, Ne...	ORPHA:97290
Bleeding Disorder, Platelet-Type, 25	Spontaneous, recurrent epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-in...	OMIM:620486
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Highly arched eyebrow, Hypertension, Dysphagia, Left ventricular hypertrophy, Bicuspid aortic val...	OMIM:220111
Contractures-Developmental Delay-Pierre Robin Syndrome	Microtia, Abnormal finger morphology, Glossoptosis, Wrist flexion contracture, Arachnodactyly, Lo...	ORPHA:436003
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Mixed hearing impairment, Cervical C2/C3 vertebral fusion, Highly arched eyebrow, Sensorineural h...	ORPHA:444077
Ulnar-Mammary Syndrome	Delayed puberty, Aplasia of the 4th metacarpal, Stiff elbow, Short humerus, Sparse axillary hair,...	OMIM:181450
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Retrognathia, Dental crowding, Pectus carinatum, Underdeveloped tragus, Ventricular hypertrophy, ...	OMIM:620654
Wiedemann-Rautenstrauch Syndrome	Small earlobe, Narrow nasal ridge, Short humerus, Hypoplastic facial bones, Dysphagia, Long philt...	OMIM:264090
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Retrognathia, Wrist flexion contracture, Pectus excavatum, Flexion contracture of finger, Thoraci...	ORPHA:254528
Cantu Syndrome	Delayed skeletal maturation, Erlenmeyer flask deformity of the femurs, Umbilical hernia, Bicuspid...	OMIM:239850
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Maffucci Syndrome	Hemangiomatosis, Pituitary adenoma, Parathyroid adenoma, Dysphagia, Multiple enchondromatosis, Os...	ORPHA:163634
Holoprosencephaly 14	Aqueductal stenosis, Cyclopia, Proboscis, Aortic valve atresia, Hydrocephalus, Dandy-Walker malfo...	OMIM:619895
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Epis...	OMIM:616216
Atrial Septal Defect 4	Atrial septal defect, Coarctation of aorta, Patent foramen ovale	OMIM:611363
Acro-Renal-Ocular Syndrome	Sandal gap, Sensorineural hearing impairment, Short humerus, Hypoplasia of the ulna, Aganglionic ...	ORPHA:959
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Microtia, Microdontia, Split foot, Ureterocele, Abnormal nasopharynx morphology, Sparse axillary ...	OMIM:129900
Inflammatory Skin And Bowel Disease, Neonatal, 2	Polyhydramnios, Hypertension, Dehydration, Long eyelashes, Coarctation of aorta, Recurrent pneumo...	OMIM:616069
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Kyphoscoliosis, Dislocated radial head, Short metacarpal, Broad femoral neck, Bifid uvula, Modera...	OMIM:612350
Mosaic Trisomy 14	Bilateral single transverse palmar creases, Low-set, posteriorly rotated ears, Narrow chest, Hypo...	ORPHA:1703
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Neutropenia	OMIM:603552
2Q37 Microdeletion Syndrome	Congenital diaphragmatic hernia, Bilateral single transverse palmar creases, Highly arched eyebro...	ORPHA:1001
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Corneal opacity, Pectus excavatum, Kyphosis, Aortic valve stenosis, Flexion contracture of finger...	ORPHA:464311
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Abnormal seventh cranial physiology, Abnormal cranial nerve physiology, Upper limb muscle weaknes...	ORPHA:90117
Gm1 Gangliosidosis Type 1	Pectus carinatum, Short long bone, Cardiomyopathy, Flared iliac wing, Hypoplastic vertebral bodie...	ORPHA:79255
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Kyphoscoliosis, Spondylolysis, Femoral bowing, Tibial bowing, Short metacarpa...	OMIM:304120
Mosaic Variegated Aneuploidy Syndrome 1	Pulmonic stenosis, Long philtrum, Intrauterine growth retardation, Ventriculomegaly, Oligohydramn...	OMIM:257300
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Spondylolisthesis, Pectus carinatum, Craniosynostosis, Cervical spinal canal stenosis, Tarsal syn...	OMIM:178110
T-Cell Immunodeficiency With Thymic Aplasia	Emphysema, Abnormally low T cell receptor excision circle level, Lymphopenia, Recurrent bronchopu...	OMIM:242700
Microphthalmia With Limb Anomalies	Bilateral single transverse palmar creases, Sandal gap, Abnormal form of the vertebral bodies, Ab...	ORPHA:1106
Von Willebrand Disease, Platelet-Type	Intermittent thrombocytopenia	OMIM:177820
Gm1-Gangliosidosis, Type Iii	Anterior beaking of lumbar vertebrae, Hepatomegaly, Foam cells, Hypoplastic acetabulae, Scoliosis...	OMIM:230650
Feingold Syndrome Type 1	Sensorineural hearing impairment, Abnormal heart morphology, Tricuspid atresia, 4-5 toe syndactyl...	ORPHA:391641
Carey-Fineman-Ziter Syndrome	Aplasia of the pectoralis major muscle, Glossoptosis, Hypertensive crisis, Long philtrum, Ventric...	ORPHA:1358
Kagami-Ogata Syndrome	Kyphoscoliosis, Microtia, Premature birth, Thoracic hypoplasia, Broad philtrum, Dysphagia, Coxa v...	ORPHA:254519
Alpha-Mannosidosis, Infantile Form	Mixed hearing impairment, Highly arched eyebrow, Sensorineural hearing impairment, Pectus carinat...	ORPHA:309282
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Microtia, Short long bone, Flat acetabular roof, Short ribs, Hypertension, Hypoplastic ischia, Il...	OMIM:613320
Fryns Syndrome	Rocker bottom foot, Ureteral duplication, Proximal placement of thumb, Meckel diverticulum, Promi...	OMIM:229850
Robinow Syndrome, Autosomal Dominant 3	Kyphosis, Agenesis of permanent teeth, Broad thumb, Mesomelia, Syndactyly, Long philtrum, Hypopla...	OMIM:616894
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Megaloblastic anemia, Cardiac arrest, Paroxysmal atrial tachycardia, Th...	ORPHA:49827
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Genitourinary And/Or Brain Malformation Syndrome	Kyphoscoliosis, Joint stiffness, Aplasia of the nasal bone, Colpocephaly, Syndactyly, Long philtr...	OMIM:618820
Microphthalmia With Limb Anomalies	Retrognathia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Interrupted ...	OMIM:206920
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia...	OMIM:619041
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the upper limbs, Bradycardia, Microtia, Premature birth, Ap...	ORPHA:40366
Carey-Fineman-Ziter Syndrome 1	Retrognathia, Spinal rigidity, Pectoralis hypoplasia, Sensorineural hearing impairment, Glossopto...	OMIM:254940
Hajdu-Cheney Syndrome	Delayed puberty, Partial absence of toe, Pectus carinatum, Decreased skull ossification, Kyphosis...	ORPHA:955
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal bone ossification, Reduced bone mineral density, Biconvex vertebral bodies, Small earlob...	ORPHA:93315
Mucopolysaccharidosis Type 1	Chronic otitis media, Abnormal hip bone morphology, Abnormal form of the vertebral bodies, Sensor...	ORPHA:579
Mmep Syndrome	Microphthalmia, Ventricular septal defect	ORPHA:3434
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Hypertension, Abnormal circulating renin, Glucocortocoid-insensitive prima...	ORPHA:251274
Joubert Syndrome 2	Dysgenesis of the cerebellar vermis, Enlarged fossa interpeduncularis, Nephronophthisis, Encephal...	OMIM:608091
Spondylocostal Dysostosis 1, Autosomal Recessive	Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec...	OMIM:277300
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Epistaxis, Macrothrombocytopenia,...	OMIM:231200
Frontometaphyseal Dysplasia	Limited elbow movement, Mixed hearing impairment, Limitation of knee mobility, Dislocated radial ...	ORPHA:1826
Pearson Syndrome	Steatorrhea, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Reticulocyt...	ORPHA:699
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, 2-4 toe cutaneous syndactyly, Short 4th metacarpal, Muscular ventricu...	OMIM:618569
Systemic Lupus Erythematosus 17	Hypertensive crisis, Thrombocytopenia, Leukopenia, Raynaud phenomenon, Lymphopenia, Autoimmune th...	OMIM:301080
1Q21.1 Microdeletion Syndrome	Sensorineural hearing impairment, Broad thumb, Joint hypermobility, Long philtrum, Intrauterine g...	ORPHA:250989
Hurler Syndrome	Abnormal nerve conduction velocity, Hypertension, Corneal opacity, Everted lower lip vermilion, C...	ORPHA:93473
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Atrial septal defect, Nail dystrophy, Coarse hair, Abnormality of the anterior pituitary, Brittle...	ORPHA:75389
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Sensorineural hearing impairment, Pectus carinatum, Broad thumb, Pulmonic steno...	OMIM:612541
Bilateral Polymicrogyria	Abnormal glossopharyngeal nerve morphology, Difficulty in tongue movements, Abnormality of mastic...	ORPHA:268940
Orofaciodigital Syndrome Type 10	Retrognathia, Mesomelic arm shortening, Oligodactyly, Prominent calcaneus, Long philtrum, Accesso...	ORPHA:2756
Meckel Syndrome, Type 7	Situs inversus totalis, Multicystic kidney dysplasia, Inguinal hernia, Dandy-Walker malformation,...	OMIM:267010
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Dilation of Virchow-Robin spaces, Dental crowding, Premature birth, Long philtrum, Intrauterine g...	OMIM:300998
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Short ribs, Hypoplast...	OMIM:208500
Fontaine Progeroid Syndrome	Retrognathia, Everted lower lip vermilion, Microdontia, Low posterior hairline, Delayed skeletal ...	OMIM:612289
Congenital Heart Defects, Multiple Types, 9	Arteria lusoria, Transposition of the great arteries, Single ventricle of indeterminate morpholog...	OMIM:620294
Shashi-Pena Syndrome	Retrognathia, Dilation of Virchow-Robin spaces, Cervical C2/C3 vertebral fusion, Highly arched ey...	OMIM:617190
Hypermethioninemia Due To Adenosine Kinase Deficiency	Portal fibrosis, Sensorineural hearing impairment, Cholestasis, Elevated circulating alanine amin...	OMIM:614300
Nanophthalmos 4	Microphthalmia	OMIM:615972
15Q11.2 Microdeletion Syndrome	Abnormal palate morphology, Abnormal pinna morphology, Total anomalous pulmonary venous return, D...	ORPHA:261183
Deafness, X-Linked 7	Stenosis of the external auditory canal, Hearing impairment, Atresia of the external auditory can...	OMIM:301018
Duane Retraction Syndrome	Aniridia, Anorectal anomaly, Abnormal form of the vertebral bodies, Ectopic kidney, Sensorineural...	ORPHA:233
Holoprosencephaly 11	Synophrys, Cleft palate, Thick eyebrow, Holoprosencephaly, Agenesis of corpus callosum, Cleft lip...	OMIM:614226
Kagami-Ogata Syndrome	Kyphoscoliosis, Retrognathia, Microtia, Pulmonic stenosis, Premature birth, Splenomegaly, Long ph...	OMIM:608149
Desbuquois Dysplasia 1	Developmental glaucoma, Disproportionate short-limb short stature, Sandal gap, Hyperlordosis, Fla...	OMIM:251450
Beckwith-Wiedemann Syndrome	Congenital diaphragmatic hernia, Rhabdomyosarcoma, Ureteral duplication, Enlarged kidney, Abnorma...	ORPHA:116
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Cardiomegaly, Cerebellar vermis...	OMIM:620642
Autoimmune Polyendocrinopathy Type 1	Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre...	ORPHA:3453
Congenital Sialidosis Type 2	Generalized hypertrichosis, Corneal opacity, Ascites, Abnormal heart morphology, Umbilical hernia...	ORPHA:93400
De Barsy Syndrome	Kyphoscoliosis, Corneal opacity, Pectus excavatum, Delayed skeletal maturation, Sparse hair, Umbi...	ORPHA:2962
Kimura Disease	Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy	ORPHA:482
Placental Insufficiency	Abnormal placenta morphology, Small placenta, Proportionate short stature, Abnormal lung morpholo...	ORPHA:439167
Orofaciodigital Syndrome V	Sandal gap, Bifid uvula, Aganglionic megacolon, Scoliosis, Postaxial hand polydactyly, Hearing im...	OMIM:174300
Melkersson-Rosenthal Syndrome	Facial edema, Facial palsy, Furrowed tongue	OMIM:155900
Klippel-Trénaunay Syndrome	Congestive heart failure, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal tricuspid valve mor...	ORPHA:90308
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Enlarged kidney, Hypertension, Cholestasis, Ascites, Biliary hyperpl...	ORPHA:731
Au-Kline Syndrome	Retrognathia, Breech presentation, Sensorineural hearing impairment, Microtia, Bifid nasal tip, L...	OMIM:616580
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia	ORPHA:494444
Peters-Plus Syndrome	Bilobate gallbladder, Limited elbow movement, Square pelvis bone, Ureteral duplication, Proximal ...	OMIM:261540
Acth-Independent Macronodular Adrenal Hyperplasia	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hypertension, Adrenal...	OMIM:219080
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Acetabular dysplasia, Myopathy, Cervical C2/C3 vertebral fusion, Webbed neck, High palate, Low-se...	OMIM:616549
Steinfeld Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal vertebral morphology, Aplasia/Hypoplas...	OMIM:184705
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Atresia of the external auditory canal, Ventricular septal defect, Talipes equinovarus	OMIM:209770
Pierre Robin Sequence With Facial And Digital Anomalies	Easily subluxated first metacarpophalangeal joints, Clinodactyly of the 5th finger, Glossoptosis,...	OMIM:311895
Cerebrotendinous Xanthomatosis	Abnormal femur morphology, Abnormal finger morphology, Cerebellar atrophy, Precocious atheroscler...	ORPHA:909
Meckel Syndrome, Type 3	Polydactyly, Occipital encephalocele, Hepatomegaly, Hydrocephalus, Dandy-Walker malformation, Pos...	OMIM:607361
Oculofaciocardiodental Syndrome	Solitary median maxillary central incisor, Highly arched eyebrow, Sensorineural hearing impairmen...	ORPHA:2712
Orofaciodigital Syndrome I	Radial deviation of finger, Hypothalamic hamartoma, Hypertension, Myelomeningocele, Abnormal hear...	OMIM:311200
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Lymphocytoma cut...	ORPHA:449395
Tetraamelia-Multiple Malformations Syndrome	Microtia, Aplasia/Hypoplasia involving the pelvis, Septo-optic dysplasia, Abnormally ossified ver...	ORPHA:3301
Meckel Syndrome, Type 10	Occipital encephalocele, Molar tooth sign on MRI, Sacral dimple, Anencephaly, Hypospadias, Dandy-...	OMIM:614175
Acute Myelomonocytic Leukemia	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	ORPHA:517
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Delayed puberty, Rocker bottom foot, Abnormal earlobe morphology, Abnormal ovarian morphology, Pr...	ORPHA:95699
Primary Unilateral Adrenal Hyperplasia	Decreased circulating renin level, Hypertension, Glucocortocoid-insensitive primary hyperaldoster...	ORPHA:231580
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Absent toe, Short ribs, Thyroid hypoplasia, Hypoplastic pelvis, Syndactyly, Umbilical hernia, Abn...	OMIM:308050
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Schimke Immunoosseous Dysplasia	Hypertension, Cerebral ischemia, Microdontia, Lymphopenia, Intrauterine growth retardation, Stage...	OMIM:242900
Hydrolethalus	Microphthalmia, Polyhydramnios, Anencephaly, Anophthalmia	ORPHA:2189
Degcags Syndrome	Premature graying of hair, Retrognathia, Breech presentation, Sensorineural hearing impairment, C...	OMIM:619488
Joubert Syndrome 10	Molar tooth sign on MRI, Polyhydramnios, Cerebellar vermis hypoplasia, Hirsutism, Low-set ears, P...	OMIM:300804
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Hypertension, Adrenogenital syndrome	OMIM:202110
Igg4-Related Ophthalmic Disease	Abnormality of infra-orbital nerve, Palpebral edema, Trigeminal neuralgia, Abnormal optic nerve m...	ORPHA:449563
Combined Oxidative Phosphorylation Deficiency 47	Hepatomegaly, Platyspondyly, Elevated circulating hepatic transaminase concentration, Sensorineur...	OMIM:618958
Craniosynostosis 4	Retrognathia, Lambdoidal craniosynostosis, Chiari type I malformation, Bicoronal synostosis, Opti...	OMIM:600775
Gracile Bone Dysplasia	Aniridia, Slender long bone, Flared metaphysis, Hydrocephalus, Thin ribs, Decreased skull ossific...	OMIM:602361
Intellectual Developmental Disorder, Autosomal Dominant 52	Breech presentation, Cervical C2/C3 vertebral fusion, Sensorineural hearing impairment, Pectus ca...	OMIM:617796
Atelosteogenesis, Type Ii	Sandal gap, Bifid humerus, Short greater sciatic notch, Flat acetabular roof, Dumbbell-shaped fem...	OMIM:256050
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary hematopoiesis, Neutropenia	OMIM:615285
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Sensorineural hearing impairment, Abnormal salivary gland morphology	ORPHA:3225
Gómez-López-Hernández Syndrome	Thin vermilion border, Alopecia of scalp, Abnormal brainstem morphology, Cerebellar vermis hypopl...	ORPHA:1532
Metatropic Dysplasia	Abnormal form of the vertebral bodies, Kyphosis, Joint stiffness, Severe short stature, Low-set, ...	ORPHA:2635
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Anterior open-bite malocclusion, Abnormal autonomic nervous system physiology, Leukocytosis, Hypo...	ORPHA:83601
Combined Oxidative Phosphorylation Deficiency 37	Optic atrophy, Decreased liver function, 3-Methylglutaconic aciduria, Elevated circulating hepati...	OMIM:618329
Moebius Syndrome	Radial deviation of finger, Abnormal pinna morphology, Facial diplegia, Bifid uvula, Syndactyly, ...	OMIM:157900
Ciliary Dyskinesia, Primary, 37	Situs inversus totalis, Dextrocardia, Right aortic arch, Chronic rhinitis, Hearing impairment, Hy...	OMIM:617577
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor, Hypertrophic cardiomyopathy	OMIM:612989
Ritscher-Schinzel Syndrome 2	Prominent fingertip pads, Low posterior hairline, Intestinal malrotation, Syndactyly, Short dista...	OMIM:300963
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Duodenal ulcer, Retrognathia, Ectopic kidney, Sandal gap, Disloc...	OMIM:135900
Warburg-Cinotti Syndrome	Corneal neovascularization, Dental crowding, Limbal stem cell deficiency, Wrist flexion contractu...	OMIM:618175
Craniodiaphyseal Dysplasia	Optic atrophy, Diaphyseal undertubulation, Craniofacial hyperostosis, Stenosis of the external au...	ORPHA:1513
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Reduced bone mineral density, Elevated circulating hepatic transaminase...	OMIM:613658
Acute Peripheral Arterial Occlusion	Pallor	ORPHA:90064
Temtamy Preaxial Brachydactyly Syndrome	Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Microd...	ORPHA:363417
Dermatitis, Atopic	Pallor, Facial erythema, Dry skin	OMIM:603165
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Non-Involuting Congenital Hemangioma	Congestive heart failure, Thrombocytopenia, Telangiectasia of the skin	ORPHA:141179
Mulibrey Nanism	Dental crowding, Ascites, Hypoplastic frontal sinuses, Cardiomegaly, Intrauterine growth retardat...	OMIM:253250
Proteus Syndrome	Kyphoscoliosis, Venous malformation, Lipoma, Mandibular hyperostosis, Hemangioma, Spinal canal st...	OMIM:176920
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Frontometaphyseal Dysplasia 1	Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Sensorineural he...	OMIM:305620
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Macular coloboma, Interrupted aortic arch, Facial palsy, Retinal coloboma, Coarctation of aorta	OMIM:107550
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Proximal placement of thumb, Ectopic kidney, Dislocated radial h...	OMIM:122470
Cheilitis Glandularis	Abnormal salivary gland morphology, Squamous cell carcinoma, Thick lower lip vermilion, Neoplasm	ORPHA:1221
Non-24-Hour Sleep-Wake Syndrome	Abnormal pineal melatonin secretion	ORPHA:73267
Autosomal Dominant Cutis Laxa	Corneal opacity, Joint hypermobility, Adducted thumb, Intrauterine growth retardation, Hip disloc...	ORPHA:90348
Conotruncal Heart Malformations	Transposition of the great arteries, Truncus arteriosus, Postaxial polydactyly, Coarctation of ao...	OMIM:217095
Tick-Borne Encephalitis	Elevated circulating hepatic transaminase concentration, Vertigo, Tongue fasciculations, Abnormal...	ORPHA:297
Intellectual Developmental Disorder, Autosomal Dominant 73	Bilateral single transverse palmar creases, Long nose, Retrognathia, Highly arched eyebrow, Micro...	OMIM:620450
Otopalatodigital Syndrome Type 1	Proximal placement of thumb, Sandal gap, Hypoplastic frontal sinuses, Short distal phalanx of fin...	ORPHA:90650
Chromosome 16P13.3 Duplication Syndrome	Rocker bottom foot, Proximal placement of thumb, Sandal gap, Tracheobronchomalacia, Microtia, Pec...	OMIM:613458
Orofaciodigital Syndrome Type 6	Mesoaxial polydactyly, Highly arched eyebrow, Hypothalamic hamartoma, Abnormal oral frenulum morp...	ORPHA:2754
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Bilateral single transverse palmar creases, Retrognathia, Ectopic kidney, Sensorineural hearing i...	OMIM:235510
Congenital Varicella Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:291
Mccune-Albright Syndrome	Hepatocellular adenoma, Abnormal femur morphology, Cholestasis, Accelerated skeletal maturation, ...	ORPHA:562
Joubert Syndrome 3	Molar tooth sign on MRI, Nephronophthisis, Elongated superior cerebellar peduncle, Retinal dystro...	OMIM:608629
Orofaciodigital Syndrome Type 14	Accessory oral frenulum, Aplasia of the epiglottis, Low-set, posteriorly rotated ears, Dandy-Walk...	ORPHA:434179
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Congenital diaphragmatic hernia, Anencephaly, Short ribs, Ventriculomegaly, Accessory oral frenul...	OMIM:616546
Mucopolysaccharidosis, Type Vi	Kyphoscoliosis, Cervical myelopathy, Hypoplastic iliac wing, Pectus carinatum, Sinus tachycardia,...	OMIM:253200
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hypothalamic hamartoma, Short ribs, Hip dislocation, Hydrocephalus, Post...	OMIM:241800
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hypoplastic sacrum, Nail dystrophy, Microtia, Microdontia, Split foot, Ureterocele, Abnormal naso...	OMIM:604292
Microhydranencephaly, X-Linked	Holoprosencephaly, Decreased fetal movement, Intrauterine growth retardation, Multiple joint cont...	OMIM:306990
Diastrophic Dysplasia	Kyphoscoliosis, Cystic lesions of the pinnae, Glabellar hemangioma, Disproportionate short-limb s...	OMIM:222600
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal h...	OMIM:115197
Brachydactyly, Type B1	Joint contracture of the hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Hypoplasti...	OMIM:113000
Encephalocraniocutaneous Lipomatosis	Corneal opacity, Aortic valve stenosis, Retinopathy, Ventriculomegaly, Osteolysis, Craniofacial h...	ORPHA:2396
Cutis Laxa, Autosomal Recessive, Type Ic	Retrognathia, Breech presentation, Sandal gap, Morgagni diaphragmatic hernia, Ascites, Umbilical ...	OMIM:613177
16P12.1P12.3 Triplication Syndrome	Retrognathia, Prominent fingertip pads, Abnormal heart morphology, Wide mouth, Long philtrum, Abn...	ORPHA:485405
Long Qt Syndrome 16	Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ...	OMIM:618782
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Pectus carinatum, Everted lower lip vermilion, Kyphosis, Sparse hair, Ventriculomeg...	OMIM:616449
Pierre Robin Syndrome	Glossoptosis, Micrognathia, Pierre-Robin sequence, Cleft palate, Cor pulmonale	OMIM:261800
Santos Syndrome	Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Short stature, Metatarsus adductus,...	OMIM:613005
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart	OMIM:241550
Proboscis Lateralis	Optic nerve hypoplasia, Corneal opacity, Abnormal eyebrow morphology, Ureteral agenesis, Long phi...	ORPHA:141099
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Cerebellar atrophy, Ureteral stenosis, Intestinal malrotation, Absence of t...	OMIM:270100
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Pycnodysostosis	Spondylolysis, Spondylolisthesis, Disproportionate short-limb short stature, Hypoplastic iliac wi...	ORPHA:763
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Anorectal anomaly, Abnormal form of the vertebral bodies, Microt...	ORPHA:1834
Spondylocarpotarsal Synostosis Syndrome	Mixed hearing impairment, Sensorineural hearing impairment, Pectus carinatum, Hyperlordosis, Shor...	OMIM:272460
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome	Hearing impairment, Bilateral single transverse palmar creases, Atresia of the external auditory ...	ORPHA:3023
Pigmented Nodular Adrenocortical Disease, Primary, 4	Hypertension, Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism, Increased circula...	OMIM:615830
Cleft-Limb-Heart Malformation Syndrome	Truncus arteriosus, Syndactyly	OMIM:215850
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Anemia, Leukemia, Neutropenia	OMIM:614082
Bone Marrow Failure Syndrome 2	Thrombocytopenia, Anemia, Leukopenia	OMIM:615715
22Q11.2 Duplication Syndrome	Transposition of the great arteries, Wide nose, Interrupted aortic arch, Scoliosis, Depressed nas...	ORPHA:1727
Generalized Arterial Calcification Of Infancy	Calcification of the aorta, Mixed hearing impairment, Sensorineural hearing impairment, Ventricul...	ORPHA:51608
Pancreatic Agenesis-Holoprosencephaly Syndrome	Semilobar holoprosencephaly, Solitary median maxillary central incisor, Abnormal pinna morphology...	ORPHA:556955
Acrodysostosis 1 With Or Without Hormone Resistance	Decreased growth hormone responses to growth hormone-releasing hormone challenge, Disproportionat...	OMIM:101800
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Pseudoachondroplasia	Disproportionate short-limb short stature, Abnormal form of the vertebral bodies, Short long bone...	ORPHA:750
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Decreased circulating renin level, Hypertension, Hyperaldosteronism	OMIM:613677
Fixed Subaortic Stenosis	Pulmonic stenosis, Abnormal heart morphology, Diastolic heart murmur, Cardiomegaly, Left ventricu...	ORPHA:3092
Cardiac Diverticulum	Abnormal coronary artery origin, Premature ventricular contraction, Aortic valve stenosis, Abnorm...	ORPHA:1686
Barber-Say Syndrome	Sparse or absent eyelashes, Delayed eruption of teeth, Breast aplasia, Anteverted nares, Abnormal...	ORPHA:1231
Pituitary Stalk Interruption Syndrome	Delayed puberty, Diabetes insipidus, Hypoplasia of penis, Adrenal hypoplasia, Septo-optic dysplas...	ORPHA:95496
Holoprosencephaly-Caudal Dysgenesis Syndrome	Cyclopia, Radial club hand, Low-set ears, Cleft palate, Premature birth, Holoprosencephaly, Abnor...	ORPHA:2165
Anophthalmia Plus Syndrome	Anophthalmia, Spina bifida	ORPHA:1104
Distal Duplication 14Q	Abnormal lung lobation, Abnormal aortic morphology, Hearing impairment, Short stature, Patent duc...	ORPHA:1705
Solitary Median Maxillary Central Incisor	Decreased response to growth hormone stimulation test, Cyclopia, Solitary median maxillary centra...	OMIM:147250
Stromme Syndrome	Optic nerve hypoplasia, Intestinal malrotation, Wide mouth, Retinal vascular tortuosity, Myopathy...	OMIM:243605
Multiple Epiphyseal Dysplasia, Beighton Type	Lumbar platyspondyly, Abnormal hand metaphysis morphology, Joint stiffness, Biconcave vertebral b...	ORPHA:166011
Cleidocranial Dysplasia	Chronic otitis media, Glossoptosis, Decreased skull ossification, Sinusitis, Abnormal epiphysis m...	ORPHA:1452
Vissers-Bodmer Syndrome	Short stature, Premature birth, Holoprosencephaly, Intrauterine growth retardation, Tapered finger	OMIM:619033
7Q11.23 Microduplication Syndrome	Chronic otitis media, Congenital diaphragmatic hernia, Retrognathia, Abnormal earlobe morphology,...	ORPHA:96121
Pseudoaminopterin Syndrome	Clinodactyly of the 5th toe, Limited elbow movement, Highly arched eyebrow, Pectus excavatum, Mic...	ORPHA:221120
Waardenburg Syndrome Type 2	Premature graying of hair, Aganglionic megacolon, Hypopigmentation of hair, Sensorineural hearing...	ORPHA:895
Deafness-Ear Malformation-Facial Palsy Syndrome	Abnormal antihelix morphology, Aplasia/Hypoplasia of the earlobes, Abnormal pinna morphology, Fac...	ORPHA:3232
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Juvenile Sialidosis Type 2	Optic atrophy, Hepatomegaly, Inguinal hernia, Abnormal form of the vertebral bodies, Gingival ove...	ORPHA:93399
Cowden Syndrome	Lipoma, Neoplasm of the skin, Pectus excavatum, Kyphosis, Neoplasm, Neoplasm of the central nervo...	ORPHA:201
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Convex nasal ridge, Fused cervical vertebrae, Abnormal hip bone mor...	ORPHA:2522
Intrahepatic Cholestasis Of Pregnancy	Abnormal pineal melatonin secretion, Jaundice, Elevated circulating hepatic transaminase concentr...	ORPHA:69665
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism	OMIM:610539
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Occipital encephalocele, Oligodactyly, Humeroradial synostosis, Arachnodactyly, Craniosynostosis	OMIM:614416
Thanatophoric Dysplasia Type 1	Short greater sciatic notch, Femoral bowing, Kyphosis, Joint stiffness, Ventriculomegaly, Lethal ...	ORPHA:1860
Joubert Syndrome 38	Decreased response to growth hormone stimulation test, Molar tooth sign on MRI, Inferior cerebell...	OMIM:619476
Stormorken Syndrome	Anemia, Hematuria, Short philtrum, Howell-Jolly bodies, Asplenia, Short stature, Stroke-like epis...	OMIM:185070
Bosma Arhinia Microphthalmia Syndrome	Abnormal pinna morphology, Anosmia, Paranasal sinus hypoplasia, Hypospadias, Inguinal hernia, Cho...	OMIM:603457
Prune Belly Syndrome	Pectus excavatum, Intestinal malrotation, Congenital posterior urethral valve, Oligohydramnios, S...	ORPHA:2970
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ...	OMIM:620663
Sarcoidosis, Susceptibility To, 1	Clubbing, Splenomegaly, Enlarged lacrimal glands, Pancytopenia, Chorioretinitis, Optic neuropathy...	OMIM:181000
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Orofacial cleft, 2-3 toe syndactyly, Postaxial hand polydactyly, Coarctation of aorta, Broad hall...	OMIM:217085
Saul-Wilson Syndrome	Cone-shaped epiphyses of the phalanges of the hand, Sensorineural hearing impairment, Pectus cari...	OMIM:618150
Isolated Thyroid-Stimulating Hormone Deficiency	Facial edema, Decreased thyroid-stimulating hormone level, Bradycardia, Pituitary hypothyroidism,...	ORPHA:90674
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Pediatric-Onset Graves Disease	Elevated circulating hepatic transaminase concentration, Hypertension, Thyrotoxicosis with diffus...	ORPHA:525731
Pelvis-Shoulder Dysplasia	Aplasia/hypoplasia of the femur, Abnormal form of the vertebral bodies, Dislocated radial head, A...	ORPHA:2839
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Sinusitis, Abnormal spinal cord morphology, Cerebral edema, Abnormal pons mo...	ORPHA:68
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Dysgenesis of the cerebellar vermis, Small pituitary gland, Disproportionate short-limb short sta...	OMIM:619479
Otospondylomegaepiphyseal Dysplasia	Sandal gap, Sensorineural hearing impairment, Tibial bowing, Glossoptosis, Short metacarpal, Abno...	ORPHA:1427
Noonan Syndrome 12	Decreased response to growth hormone stimulation test, Polyhydramnios, Glabellar hemangioma, Prox...	OMIM:618624
Partial Atrioventricular Septal Defect	Coronary sinus enlargement, Aortic valve stenosis, Heart murmur, Bicuspid aortic valve, Abnormal ...	ORPHA:1330
Neurofibroma	Peripheral nerve compression, Kyphoscoliosis, Peripheral schwannoma, Enlarged peripheral nerve, S...	ORPHA:252183
Pagod Syndrome	Optic atrophy, Situs inversus totalis, Abnormal clavicle morphology, Congenital diaphragmatic her...	ORPHA:991
Meacham Syndrome	Enlarged kidney, Bicuspid aortic valve, Congenital alveolar dysplasia, Single umbilical artery, T...	OMIM:608978
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Cryptorchid...	ORPHA:67044
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Hammertoe, Talipes equinovarus, Axona...	OMIM:601596
Congenital Gerbode Defect	Elevated right atrial pressure, Left-to-right shunt, Pulmonic stenosis, Constrictive pericarditis...	ORPHA:99095
Weill-Marchesani Syndrome 2	Flexion contracture of toe, Short metacarpal, Broad metatarsal, Joint stiffness, Delayed skeletal...	OMIM:608328
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Glossoptosis, Intrauterine growth retardation, Clinodactyly, Anteverted nares, Camptodactyly, Hea...	OMIM:613604
Mental retardation, x-linked, syndromic, Turner type	Limited elbow extension, Tapered finger, Macroorchidism, Holoprosencephaly	OMIM:300706
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Molar tooth sign on MRI, Optic disc hypoplasia, Accessory spleen, Cerebellar vermis hypoplasia, R...	OMIM:619306
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly	OMIM:613101
Giant Axonal Neuropathy	Genu valgum, Pili canaliculi, Scoliosis, Abnormal hand morphology, Abnormal pituitary gland morph...	ORPHA:643
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Abnormality of cranial sutures, Abnormal bone ossification, Flat acetabular roof, Wide proximal f...	ORPHA:163649
Distal Deletion 12Q	Kyphoscoliosis, Ectopic kidney, Biliary atresia, Microtia, Pituitary adenoma, Aplasia/Hypoplasia ...	ORPHA:96149
Acth-Independent Macronodular Adrenal Hyperplasia 2	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hypertension, Increas...	OMIM:615954
Salivary Gland Adenoma, Pleomorphic	Salivary gland neoplasm	OMIM:181030
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl...	OMIM:610713
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Pontine Tegmental Cap Dysplasia	Sensorineural hearing impairment, Scoliosis, Hemivertebrae, Facial palsy, Rib fusion, Pontine teg...	OMIM:614688
Classical-Like Ehlers-Danlos Syndrome Type 2	Kyphoscoliosis, Sandal gap, Pectus excavatum, Kyphosis, Arachnodactyly, Equinus calcaneus, Abnorm...	ORPHA:536532
Neutral Lipid Storage Myopathy	Congestive heart failure, Generalized limb muscle atrophy, Hepatomegaly, Elevated circulating hep...	ORPHA:98908
Endosteal Hyperostosis, Worth Type	Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Craniofacial hyperost...	ORPHA:2790
Spondylocostal Dysostosis 2, Autosomal Recessive	Hemivertebrae, Vertebral segmentation defect, Vertebral clefting, Rib fusion, Disproportionate sh...	OMIM:608681
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Thin vermilion border, Retrognathia, Patent ductus arteriosus, Hydrocephalus, Sensorineural heari...	OMIM:612938
Codas Syndrome	Abnormal form of the vertebral bodies, Sensorineural hearing impairment, Short metacarpal, Delaye...	ORPHA:1458
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Narrow greater sciatic notch, Limited elbow movement, Long nose, Enlarged metaphyses, Short metac...	ORPHA:508533
2Q31.1 Microdeletion Syndrome	Sandal gap, Everted lower lip vermilion, Kyphosis, Delayed skeletal maturation, Long philtrum, Ve...	ORPHA:251014
Spondylometaphyseal Dysplasia, Type A4	Narrow greater sciatic notch, Disproportionate short-limb short stature, Pectus carinatum, Flat a...	OMIM:609052
Sponastrime Dysplasia	Kyphoscoliosis, Disproportionate short-limb short stature, Short long bone, Congenital aphakia, S...	ORPHA:93357
Atresia Of External Auditory Canal And Conductive Deafness	Atresia of the external auditory canal, Stenosis of the external auditory canal, Conductive heari...	OMIM:108760
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity...	ORPHA:93322
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Hypoplastic helices, Hypospadias, Clubbing, Low-set ears, Split hand, Ventricular septal defect, ...	OMIM:600460
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Sensorineural hearing impairment, Microtia, Pancreatic aplasia, Long philtrum, Intrauterine growt...	OMIM:618500
Rhizomelic Chondrodysplasia Punctata, Type 2	Optic nerve hypoplasia, Zonular cataract, Short humerus, Knee contracture, Rhizomelia, Inguinal h...	OMIM:222765
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Abnormal palate morphology, Clinodactyly of the 5th finger, Abnormal hip bone morphology, Craniof...	ORPHA:3068
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Arrhythmia, Thrombocytopenia, Microangiopathic hemolytic anemia, Myocardial infa...	ORPHA:54057
Holoprosencephaly 2	Solitary median maxillary central incisor, Bilateral cleft palate, Aplasia of the nasal bone, Bif...	OMIM:157170
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis	OMIM:601127
Congenital Toxoplasmosis	Intrauterine growth retardation, Microphthalmia, Cardiomegaly, Ascites	ORPHA:858
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Femoral bowing, Corneal opacity, Tibial bowing, Short long bone, Sh...	OMIM:608940
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Pectus excavatum, Lower limb hypertonia, Short distal phalanx of finger, Furrowed tongue, Short s...	OMIM:300534
Alstrom Syndrome	Elevated circulating hepatic transaminase concentration, Sensorineural hearing impairment, Hypert...	OMIM:203800
Branchiooculofacial Syndrome	Premature graying of hair, Proximal placement of thumb, Sensorineural hearing impairment, Microti...	OMIM:113620
Wolfram Syndrome, Mitochondrial Form	Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia, Diabetes mellit...	OMIM:598500
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Sensorineural hearing impairment, Contracture of the proximal interphalangeal joint of the 3rd fi...	OMIM:612394
Absence Of The Pulmonary Artery	Abnormal inferior vena cava morphology, Abnormal heart morphology, Cardiomegaly, Abnormal cardiac...	ORPHA:980
Breath-Holding Spells	Pallor	OMIM:607578
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Cervical C2/C3 vertebral fusion, Moderate hearing impairment, Upper limb muscle weakness, Broad t...	ORPHA:370010
Diaphanospondylodysostosis	Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Myelomeningocele, M...	ORPHA:66637
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Rapidly Involuting Congenital Hemangioma	Congestive heart failure, Thrombocytopenia, Telangiectasia of the skin	ORPHA:141184
Hydrocephalus, Congenital, 3, With Brain Anomalies	Polyhydramnios, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Cerebellar agenesis, H...	OMIM:617967
Multiple Endocrine Neoplasia Type 1	Hematemesis, Duodenal ulcer, Adrenocortical abnormality, Neoplasm of the pancreas, Reduced bone m...	ORPHA:652
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Hypoplasia of penis, Pectus carinatum, Kyphosis, Abnormal epiphysis morphology, Aplasia/Hypoplasi...	ORPHA:3082
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Pectus carinatum, Thoracic kyphoscoliosis, Increased laxity of ankles, Broad thumb, Arachnodactyl...	ORPHA:481152
Iniencephaly	Rocker bottom foot, Congenital diaphragmatic hernia, Anencephaly, Hyperlordosis, Myelomeningocele...	ORPHA:63259
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Retrognathia, Mixed hearing impairment, Sensorineural hearing impairment, Pectus excavatum, Bifid...	OMIM:300472
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Bilateral lung agenesis, Coarctation of aorta, Neonatal death, Patent ductus arteriosus, Abnormal...	OMIM:601612
Meckel Syndrome, Type 5	Occipital encephalocele, Anencephaly, Postaxial hand polydactyly, Bowing of the long bones, Renal...	OMIM:611561
Recombinant 8 Syndrome	Chronic otitis media, Bilateral single transverse palmar creases, Abnormal sternum morphology, Pe...	ORPHA:96167
Coffin-Siris Syndrome 4	Everted upper lip vermilion, Pulmonic stenosis, Delayed skeletal maturation, Prominent interphala...	OMIM:614609
Mungan Syndrome	Perimembranous ventricular septal defect, Intestinal pseudo-obstruction, Vesicoureteral reflux, B...	OMIM:611376
Thyrocerebrorenal Syndrome	Euthyroid goiter, Thrombocytopenia	ORPHA:3327
Hallermann-Streiff Syndrome	Hyperlordosis, Hypertension, Everted lower lip vermilion, Pectus excavatum, Sparse hair, Joint hy...	OMIM:234100
Aural Atresia, Congenital	Atresia of the external auditory canal, Conductive hearing impairment, Hyposmia	OMIM:607842
Ascher Syndrome	Wide nose, High palate, Deviation of finger, Hypothyroidism, Goiter, Abnormal upper lip morpholog...	ORPHA:1253
Oculodentodigital Dysplasia	Abnormal form of the vertebral bodies, Broad alveolar ridges, Abnormal pinna morphology, Tooth ag...	ORPHA:2710
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Hydrocele testis, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neut...	OMIM:616738
Wiskott-Aldrich Syndrome 2	Thrombocytopenia, Decreased proportion of CD8-positive T cells	OMIM:614493
You-Hoover-Fong Syndrome	Kyphoscoliosis, Pectus excavatum, Double aortic arch, Hearing impairment, Coarctation of aorta, C...	OMIM:616954
Shprintzen-Goldberg Syndrome	Retrognathia, Abnormal form of the vertebral bodies, Pectus carinatum, Pectus excavatum, Joint st...	ORPHA:2462
Ataxia-Pancytopenia Syndrome	Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro...	OMIM:159550
Oculocerebrorenal Syndrome Of Lowe	Chronic otitis media, Delayed puberty, Cheilitis, Abnormal circulating calcium-phosphate regulati...	ORPHA:534
Odontochondrodysplasia	Abnormal metaphysis morphology, Short nose, Square pelvis bone, Retrognathia, Platyspondyly, Narr...	ORPHA:166272
Cardiac Septal Defects With Coarctation Of The Aorta	Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect	OMIM:212090
Multiple Pterygium-Malignant Hyperthermia Syndrome	Broad alveolar ridges, Pectus excavatum, Kyphosis, Arachnodactyly, Severe short stature, Long phi...	ORPHA:2215
Feingold Syndrome 1	Everted lower lip vermilion, Tracheoesophageal fistula, Decreased fetal movement, Tricuspid atres...	OMIM:164280
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Jaundice, Epiphyseal stippling, Glossoptosis, Elevated circulating aspartate aminot...	OMIM:614876
Spondylo-Ocular Syndrome	Aplasia/Hypoplasia of the lens, Low posterior hairline, Abnormal eyebrow morphology, Long philtru...	ORPHA:85194
Deafness-Hypogonadism Syndrome	Delayed puberty, Congenital stationary night blindness, Abnormality of the internal auditory cana...	ORPHA:90646
Proteus Syndrome	Macrodactyly, Bronchogenic cyst, Enlarged kidney, Arteriovenous malformation, Asymmetry of the th...	ORPHA:744
Aarskog-Scott Syndrome	Delayed puberty, Radial deviation of finger, Pectus excavatum, Elevated circulating luteinizing h...	OMIM:305400
Fetal Trimethadione Syndrome	Bilateral single transverse palmar creases, Short nose, Transposition of the great arteries, Hypo...	ORPHA:1913
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Dysosteosclerosis	Short ribs, Broad femoral neck, Hypoplastic vertebral bodies, Delayed closure of the anterior fon...	OMIM:224300
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Pallor, Hypertrophic cardiomyopathy	OMIM:613561
Gabriele-De Vries Syndrome	Sandal gap, Lateral ventricle dilatation, Intrauterine growth retardation, Patellar dislocation, ...	OMIM:617557
Lujan-Fryns Syndrome	Short philtrum, Dental crowding, Scoliosis, Low-set ears, Abnormality of the dentition, High pala...	ORPHA:776
Ogden Syndrome	Everted upper lip vermilion, Ventriculomegaly, Fine hair, Inguinal hernia, Scoliosis, Cryptorchid...	ORPHA:276432
Ciliary Dyskinesia, Primary, 39	Recurrent otitis media, Dextrocardia, Recurrent lower respiratory tract infections, Bronchiectasi...	OMIM:618254
Arterial Tortuosity Syndrome	Congenital diaphragmatic hernia, Pectus carinatum, Ventricular hypertrophy, Hypertension, Aortic ...	OMIM:208050
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiomyopathy, Sideroblastic anemia, Diabetes mellitus, Thrombocytopenia, Arrhythmia, Cryptorchi...	OMIM:249270
Craniotelencephalic Dysplasia	Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Atypical Hemolytic Uremic Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:2134
Saethre-Chotzen Syndrome	Bilateral single transverse palmar creases, Abnormal form of the vertebral bodies, Sensorineural ...	ORPHA:794
Joubert Syndrome 6	Molar tooth sign on MRI, Nephronophthisis, Elongated superior cerebellar peduncle, Cerebellar ver...	OMIM:610688
Deafness, Autosomal Recessive 109	Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti...	OMIM:618013
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Transposition of the great arteries, Coloboma, Patent foramen ovale, Low-set ears, Everted lower ...	OMIM:616789
Chromosome 14Q11-Q22 Deletion Syndrome	Delayed skeletal maturation, Mesomelia, Long philtrum, Optic atrophy, Inguinal hernia, Renal tubu...	OMIM:613457
Microcephaly-Capillary Malformation Syndrome	Optic atrophy, Short nose, Wide nose, Patent foramen ovale, Vesicoureteral reflux, Low-set ears, ...	OMIM:614261
Keratoconus Posticus Circumscriptus	Central posterior corneal opacity, Clinodactyly of the 5th finger, Webbed neck, Keratoconus, Limi...	OMIM:244600
Meckel Syndrome, Type 6	Occipital encephalocele, Anencephaly, Talipes equinovarus, Hydrocephalus, Bilobed right lung, Pos...	OMIM:612284
Microphthalmia, Isolated 5	Cystoid macular edema, Microphthalmia	OMIM:611040
Whistling Face Syndrome, Recessive Form	Kyphoscoliosis, Knee flexion contracture, Inguinal hernia, Shoulder flexion contracture, Trismus,...	OMIM:277720
Thakker-Donnai Syndrome	Congenital diaphragmatic hernia, Cervical C2/C3 vertebral fusion, Tracheoesophageal fistula, Intr...	ORPHA:1780
Odontochondrodysplasia 1	Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ...	OMIM:184260
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Vacterl/Vater Association	Congenital diaphragmatic hernia, Occipital encephalocele, Abnormality of the gallbladder, Anencep...	ORPHA:887
Facioscapulohumeral Muscular Dystrophy 1	Scapulohumeral muscular dystrophy, Retinal telangiectasia, Sensorineural hearing impairment, Calf...	OMIM:158900
Stickler Syndrome, Type I	Spondylolisthesis, Sensorineural hearing impairment, Pectus excavatum, Kyphosis, Joint stiffness,...	OMIM:108300
Thrombocytopenia-Absent Radius Syndrome	Sensorineural hearing impairment, Broad thumb, Aplasia/hypoplasia of the humerus, Cervical ribs, ...	ORPHA:3320
Foveal Hypoplasia 2	Microphthalmia, Hypoplasia of the fovea	OMIM:609218
Forsythe-Wakeling Syndrome	Thrombocytopenia	OMIM:613606
Culler-Jones Syndrome	Diabetes insipidus, Anterior pituitary hypoplasia, Short stature, Cleft upper lip, Postaxial poly...	OMIM:615849
Pde4D Haploinsufficiency Syndrome	Short metacarpal, Broad metatarsal, Accelerated skeletal maturation, Intrauterine growth retardat...	ORPHA:439822
Crouzon Syndrome	Optic atrophy, Narrow palate, Convex nasal ridge, Iris coloboma, Hydrocephalus, Choanal atresia, ...	ORPHA:207
Orofaciodigital Syndrome Type 1	Chronic otitis media, Reduced bone mineral density, Elevated circulating hepatic transaminase con...	ORPHA:2750
Semilobar Holoprosencephaly	Solitary median maxillary central incisor, Abnormality of the endocrine system, Sensorineural hea...	ORPHA:220386
Gm1-Gangliosidosis, Type Ii	Optic atrophy, Beaking of vertebral bodies, Hepatomegaly, Platyspondyly, Sea-blue histiocytosis, ...	OMIM:230600
Weiss-Kruszka Syndrome	Proximal placement of thumb, Highly arched eyebrow, Microtia, Colpocephaly, Broad philtrum, Left ...	OMIM:618619
Alobar Holoprosencephaly	Solitary median maxillary central incisor, Abnormality of the endocrine system, Sensorineural hea...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Solitary median maxillary central incisor, Abnormality of the endocrine system, Sensorineural hea...	ORPHA:93926
Lobar Holoprosencephaly	Solitary median maxillary central incisor, Abnormality of the endocrine system, Sensorineural hea...	ORPHA:93924
Epilepsy, Progressive Myoclonic, 9	Scoliosis, Generalized amyotrophy, Short thumb, Agenesis of corpus callosum, Microglossia, Ventri...	OMIM:616540
Mosaic Trisomy 8	Abnormal pinna morphology, Corneal opacity, Deep palmar crease, Anteverted nares, Scoliosis, Cryp...	ORPHA:96061
Meacham Syndrome	Abnormal lung lobation, Situs inversus totalis, Congenital diaphragmatic hernia, Transposition of...	ORPHA:3097
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Abnormal circulating renin, Hypertension, Pulmonary arterial hypertension, Adrenal hyperplasia, E...	ORPHA:369929
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia	ORPHA:169079
Optic Atrophy 1	Pallor	OMIM:165500
Thyroid Dyshormonogenesis 1	Growth delay, Hypothyroidism, Umbilical hernia, Goiter, Macroglossia	OMIM:274400
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Hyperte...	ORPHA:90793
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Pulmonary hemorrhage, Neutropenia	ORPHA:238459
Moyamoya Disease 6 With Or Without Achalasia	Ischemic stroke, Hypertension, Thrombocytopenia, Raynaud phenomenon	OMIM:615750
Trisomy 10P	Retrognathia, Abnormal heart morphology, Multiple renal cysts, Dysphagia, Abnormality of the ear,...	ORPHA:171929
Craniotelencephalic Dysplasia	Frontal encephalocele, Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Anauxetic Dysplasia 3	Retrognathia, Femoral bowing, Short metacarpal, Pectus excavatum, Trident hand, Severe short stat...	OMIM:618853
Stapes Ankylosis With Broad Thumbs And Toes	Long nose, Fused cervical vertebrae, Low hanging columella, Proximal/middle symphalangism of 5th ...	OMIM:184460
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Single umbilical artery, Low-set, posteriorly rotated ears, Disproportionate short-limb short sta...	ORPHA:2772
Aicardi-Goutieres Syndrome 3	Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Premature Aging Syndrome, Penttinen Type	Retrognathia, Sensorineural hearing impairment, Tibial bowing, Corneal opacity, Delayed skeletal ...	OMIM:601812
3M Syndrome	Rocker bottom foot, Hyperlordosis, Enlarged thorax, Everted lower lip vermilion, Kyphosis, Hypopl...	ORPHA:2616
Coffin-Siris Syndrome	Wide nasal base, Delayed skeletal maturation, Abnormal heart morphology, Wide mouth, Broad philtr...	ORPHA:1465
Atrioventricular Septal Defect 5	Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart	OMIM:614474
Spondylometaphyseal Dysplasia, X-Linked	Short finger, Platyspondyly, Hyperextensibility of the finger joints, Pectus carinatum, Anteverte...	OMIM:313420
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Kyphosis, Low posterior hairline, Hypoplastic vertebral bo...	ORPHA:2916
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Stickler Syndrome Type 1	Short nose, Abnormal vitreous humor morphology, Platyspondyly, Abnormal vertebral epiphysis morph...	ORPHA:90653
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Howell-Jolly bodies, Portal inflammation, Pulmonary artery atresia, Elevated circulating alanine ...	OMIM:613759
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Pectus carinatum, Kyphosis, Erlenmeyer flask deformity of the femurs, Ventriculomegaly, Craniofac...	OMIM:618476
Ververi-Brady Syndrome	Single umbilical artery, Transposition of the great arteries, Clinodactyly of the 5th finger, Wid...	OMIM:617982
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia	OMIM:620481
Stuve-Wiedemann Syndrome 2	Congestive heart failure, Thrombocytopenia, Pulmonary arterial hypertension	OMIM:619751
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Schneckenbecken Dysplasia	Disproportionate short-limb short stature, Snail-like ilia, Short long bone, Flat acetabular roof...	OMIM:269250
Faciodigitogenital Syndrome, Autosomal Recessive	Microtia, Pollakisuria, Pectus excavatum, Wide mouth, Syndactyly, Widow's peak, Narrow palate, In...	OMIM:227330
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Thick hair, Intrahepatic biliary atresia, Oligodo...	OMIM:607626
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Delayed puberty, Elevated circulating hepatic transaminase concentration, Sensorineural hearing i...	ORPHA:293987
Coffin-Siris Syndrome 12	Elevated circulating hepatic transaminase concentration, Highly arched eyebrow, Sensorineural hea...	OMIM:619325
Syndromic Diarrhea	Abnormal heart morphology, Splenomegaly, Lymphopenia, Bicuspid aortic valve, Intrauterine growth ...	ORPHA:84064
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Arteriovenous malformation, Absent toe, Abnormality of the upper lim...	ORPHA:974
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Retrognathia, Iris coloboma, Patent ductus arteriosus, Sensorineural hearing impairment, Abnormal...	ORPHA:52055
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Intrauterine growth retardation, Microphthalmia	OMIM:616171
German Syndrome	Orofacial cleft, Hearing abnormality, Lymphedema, High palate, Everted lower lip vermilion, Limit...	ORPHA:2077
20P12.3 Microdeletion Syndrome	Wolff-Parkinson-White syndrome, Ventriculomegaly, Pectus carinatum, Microtia, Narrow mouth, Short...	ORPHA:261295
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Optic atrophy, Abnormal palate morphology, Abnormal metacarpal morphology, Abnormal form of the v...	ORPHA:93262
Transcobalamin Deficiency	Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia	ORPHA:859
Trichorhinophalangeal Syndrome, Type Ii	Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Pectus excavatum, 2-4 toe s...	OMIM:150230
Anaplastic Thyroid Carcinoma	Lymphadenopathy, Laryngotracheal stenosis, Anaplastic thyroid carcinoma, Abnormal skeletal muscle...	ORPHA:142
Autosomal Dominant Robinow Syndrome	Retrognathia, Abnormal form of the vertebral bodies, Hypoplasia of penis, Pectus carinatum, Pectu...	ORPHA:3107
Stüve-Wiedemann Syndrome	Abnormal autonomic nervous system physiology, Flexion contracture of finger, Intrauterine growth ...	ORPHA:3206
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr...	OMIM:274300
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Elevated circulating hepatic transaminase concentration, Highly arched e...	ORPHA:1454
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Convex nasal ridge, Platyspondyly, Cone-shaped epiphyses of the phalanges of the hand, Narrow nas...	ORPHA:85172
Osteogenesis Imperfecta, Type Xiii	Kyphoscoliosis, Reduced bone mineral density, Limitation of knee mobility, Dislocated radial head...	OMIM:614856
Velocardiofacial Syndrome	Retrognathia, Right aortic arch with mirror image branching, Umbilical hernia, Abnormality of the...	OMIM:192430
Monosomy 9Q22.3	Rhabdomyosarcoma, Ovarian fibroma, Pectus excavatum, Kyphosis, Retinopathy, Accelerated skeletal ...	ORPHA:77301
Hemifacial Atrophy, Progressive	Short mandibular rami, Delayed eruption of teeth, Trigeminal neuralgia, Microtia, Patchy alopecia...	OMIM:141300
Frontorhiny	Hypoplastic frontal sinuses, Widow's peak, Low-set, posteriorly rotated ears, Encephalocele, Diab...	ORPHA:391474
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Spondyloenchondrodysplasia	Pectus carinatum, Hypertension, Kyphosis, Lower limb pain, Short distal phalanx of finger, Ventri...	ORPHA:1855
Diaphragmatic Hernia 4, With Cardiovascular Defects	Optic nerve hypoplasia, Aortopulmonary window, Pulmonary arterial hypertension, Cryptorchidism, A...	OMIM:620025
Werner Syndrome	Rocker bottom foot, Premature graying of hair, Hypertension, Joint stiffness, White forelock, Hyp...	ORPHA:902
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Oligodactyly, Ectrodactyly, Abnormal metacarpal morphology	ORPHA:2730
Lamb-Shaffer Syndrome	Optic atrophy, Fused cervical vertebrae, Scoliosis, Thoracic kyphosis, Micrognathia, Broad nasal ...	ORPHA:530983
Orofaciodigital Syndrome Xvii	Polydactyly, Retrognathia, High, narrow palate, Clubbing of fingers, Ventriculomegaly, Low-set ea...	OMIM:617926
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Abnormality of the endocrine system, Short metacarpal, Heart murmur, Intrauterine growth retardat...	ORPHA:166035
Treacher Collins Syndrome 1	Preauricular hair displacement, Cleft soft palate, Microtia, Narrow mouth, Choanal atresia, Atres...	OMIM:154500
Neonatal Lupus Erythematosus	Aplastic anemia, Heart block, Anemia, Prolonged QT interval, Pancytopenia, Thrombocytopenia, Sple...	ORPHA:398124
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Palpebral edema, Abnormal salivary gland morphology, Keratoconjunctivit...	ORPHA:79078
Hajdu-Cheney Syndrome	Kyphoscoliosis, Dislocated radial head, Intestinal malrotation, Biconcave vertebral bodies, Crowd...	OMIM:102500
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Disproportionate short-limb short stature, Anterior scalloping of vertebral bodies, Hypoplastic i...	OMIM:611717
Craniosynostosis, Herrmann-Opitz Type	Convex nasal ridge, Short nose, Webbed neck, Abnormal antihelix morphology, Finger syndactyly, Mi...	ORPHA:2145
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Delayed puberty, Palpebral edema, Elevated circulating hepatic transaminase concentration, Kyphos...	OMIM:619475
Malaria	Thrombocytopenia, Anemia	ORPHA:673
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Calcification of the aorta, Delayed puberty, Sensorineural hearing impairment, Spontaneous, recur...	ORPHA:2072
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Short nose, Clinodactyly of the 5th finger, Short philtrum, Anteverted nares, 2-3 toe syndactyly,...	OMIM:613443
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Congenital stationary night blindness, Nail dystrophy, Platyspondyly, Abnormal hair m...	ORPHA:319195
Neurooculocardiogenitourinary Syndrome	Redundant neck skin, Microphthalmia, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Ve...	OMIM:618652
Japanese Encephalitis	Focal T2 hyperintense thalamic lesion, Pulmonary edema, Hyperintensity of MRI T2 signal of the sp...	ORPHA:79139
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Delayed pubic bone ossification, Flattened epiphysis, Abnormality of the vertebral endplates, Hyp...	ORPHA:1856
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Acrofacial Dysostosis, Cincinnati Type	Retrognathia, Pulmonary artery aneurysm, Cleft anterior mitral valve leaflet, Tracheobronchomalac...	OMIM:616462
Brachyolmia Type 1, Hobaek Type	Flattened proximal radial epiphyses, Pectus carinatum, Short long bone, Corneal opacity, Flat ace...	OMIM:271530
Wolcott-Rallison Syndrome	Elevated circulating hepatic transaminase concentration, Lymphocytosis, Ascites, Acute hepatic fa...	ORPHA:1667
Hemoglobin D Disease	Pallor	ORPHA:90039
Bile Acid Synthesis Defect, Congenital, 3	Steatorrhea, Jaundice, Intrahepatic cholestasis, Cirrhosis, Hepatomegaly, Acholic stools, Elevate...	OMIM:613812
Distal Xq28 Microduplication Syndrome	Absent antihelix, Aplasia/Hypoplasia of the eyebrow, Thick lower lip vermilion, Predominantly low...	ORPHA:293939
Arboleda-Tham Syndrome	Chronic otitis media, Sandal gap, Lower limb amyotrophy, Small earlobe, Highly arched eyebrow, Un...	OMIM:616268
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
American Trypanosomiasis	Myocarditis, Cardiomyopathy, Periorbital edema, Edema, Pallor	ORPHA:3386
Miller-Dieker Lissencephaly Syndrome	Abnormal heart morphology, Recurrent aspiration pneumonia, Decreased fetal movement, Intrauterine...	OMIM:247200
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Polyhydramnios, Clinodactyly of the 5th finger, Recurrent respiratory infections, Abnormal form o...	ORPHA:2759
Cantú Syndrome	Low posterior hairline, Delayed skeletal maturation, Accelerated skeletal maturation, Wide mouth,...	ORPHA:1517
Cerebrofacioarticular Syndrome	Microtia, Pulmonic stenosis, Abnormal heart morphology, Syndactyly, Ventriculomegaly, Hypospadias...	ORPHA:314679
Wildervanck Syndrome	Fused cervical vertebrae, Webbed neck, Meningocele, Facial palsy, Low posterior hairline, Abducen...	ORPHA:3456
Thyrocerebroretinal Syndrome	Goiter, Thrombocytopenia	OMIM:274240
Phosphoglycerate Dehydrogenase Deficiency	Decreased testicular size, Megaloblastic anemia, Thrombocytopenia	OMIM:601815
Amed Syndrome, Digenic	Anemia, Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytopenia, Leukopenia	OMIM:619151
Hartsfield Syndrome	Semilobar holoprosencephaly, Hypospadias, Wide nose, Diabetes insipidus, Alobar holoprosencephaly...	OMIM:615465
Klippel-Feil Syndrome 1, Autosomal Dominant	Mixed hearing impairment, Cervical C2/C3 vertebral fusion, Webbed neck, Unilateral renal agenesis...	OMIM:118100
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Abnormal pinna morphology, Microtia, Short long bone, Short ribs, L...	OMIM:617925
Isolated Pierre Robin Syndrome	Micrognathia, Cleft palate, Glossoptosis	ORPHA:718
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Sensorineural hearing impairment, Anteverted nares, Enlarged epiphyses, Epiphyseal dysplasia, Pie...	OMIM:184840
Insulin-Resistance Syndrome Type B	Biliary cirrhosis, Hodgkin lymphoma, Leukopenia, Fasting hyperinsulinemia, Hyperinsulinemia, Incr...	ORPHA:2298
Monosomy 13Q14	Abnormality of the gastrointestinal tract, Clinodactyly of the 5th finger, Webbed neck, Aplasia/H...	ORPHA:1587
Thrombocytopenia 2	Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume	OMIM:188000
Beta-Thalassemia	Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly, Abnormal hem...	ORPHA:848
Mucopolysaccharidosis Type 4	Reduced bone mineral density, Pectus carinatum, Hyperlordosis, Corneal opacity, Kyphosis, Delayed...	ORPHA:582
Adult Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Urinary incontinence, Abnormal pyrami...	ORPHA:206448
Cerebellofaciodental Syndrome	Shortening of all distal phalanges of the fingers, Delayed skeletal maturation, Mitral valve prol...	OMIM:616202
Craniofacioskeletal Syndrome	Microtia, Hypoplastic frontal sinuses, Intrauterine growth retardation, Hypospadias, Short philtr...	OMIM:300712
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Broad femoral neck, Severe short stature, Abnormality of the hand, Knee pain, Hump-shaped mound o...	ORPHA:99642
Craniosynostosis And Dental Anomalies	Chronic otitis media, Dental crowding, Clinodactyly, Narrow palate, Short stature, Short phalanx ...	OMIM:614188
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Quebec Platelet Disorder	Thrombocytopenia, Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Epistaxis	OMIM:601709
Acrodysostosis	Abnormal femur morphology, Abnormal form of the vertebral bodies, Short metacarpal, Accelerated s...	ORPHA:950
Distal 22Q11.2 Microduplication Syndrome	Palpebral edema, Low posterior hairline, Long philtrum, Sacral dimple, Short philtrum, Hydrocepha...	ORPHA:261337
Mosaic Trisomy 20	Retrognathia, Kyphosis, Abnormal spinal cord morphology, Abnormal mitral valve morphology, Dyspla...	ORPHA:1724
Cyclic Vomiting Syndrome	Pallor, Cardiomyopathy	OMIM:500007
Joubert Syndrome 35	Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Pe...	OMIM:618161
Wiedemann-Rautenstrauch Syndrome	Kyphoscoliosis, Retrognathia, Corneal opacity, Severe intrauterine growth retardation, Atlantoaxi...	ORPHA:3455
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Cephalohematoma, Patent ductus arteriosus, Flared metaphysis, Increased bone mineral density, San...	OMIM:620558
Cofs Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:1466
Idiopathic Aplastic Anemia	Anemia, Pancytopenia, Reticulocytopenia, Retinal hemorrhage, Thrombocytopenia, Epistaxis, Neutrop...	ORPHA:88
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short nose, Rhizomelia, Platyspondyly, Short philtrum, Hydrocephalus, Hypoplastic iliac wing, Thi...	ORPHA:163966
Limb-Mammary Syndrome	Oligodactyly, Bifid uvula, Syndactyly, Psoriasiform dermatitis, 3-4 finger cutaneous syndactyly, ...	ORPHA:69085
Hall-Riggs Syndrome	Microdontia of primary teeth, Hypoplasia of the primary teeth, Thick lower lip vermilion, Platysp...	OMIM:234250
Keutel Syndrome	Optic atrophy, Recurrent otitis media, Wide nose, Underdeveloped nasal alae, Pulmonary arterial h...	ORPHA:85202
Congenital Heart Defects, Multiple Types, 6	Transposition of the great arteries, Hypoplastic pulmonary veins, Left ventricular outflow tract ...	OMIM:613854
Combined Immunodeficiency-Enteropathy Spectrum	Nail dystrophy, Intestinal malrotation, Sparse hair, Intrauterine growth retardation, Psoriasifor...	ORPHA:436252
Pyle Disease	Limited elbow extension, Genu valgum, Reduced bone mineral density, Cubitus valgus, Delayed erupt...	OMIM:265900
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Rocker bottom foot, Microtia, Heart murmur, Short 5th finger, Long toe, Hypospadias, Short philtr...	ORPHA:163979
Isolated Right Ventricular Hypoplasia	Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec...	ORPHA:439
Pendred Syndrome	Thyroid carcinoma, Abnormal vestibular function, Cochlear malformation, Congenital sensorineural ...	OMIM:274600
Lethal Kniest-Like Dysplasia	Breech presentation, Short ribs, Hypoplastic vertebral bodies, Edema, Abnormal ischium morphology...	ORPHA:2347
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il...	OMIM:271640
Congenital Disorder Of Glycosylation, Type Iia	Retrognathia, Proximal placement of thumb, Sensorineural hearing impairment, Everted lower lip ve...	OMIM:212066
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Sensorineural hearing impairment, Patent foramen ovale, Ventricular septal defect, Rectoperineal ...	OMIM:618748
Gillespie Syndrome	Aniridia, Truncus arteriosus, Cerebellar atrophy, Hypoplasia of the iris, Cerebellar hypoplasia, ...	OMIM:206700
Autosomal Recessive Stickler Syndrome	Astigmatism, Genu valgum, Platyspondyly, Retinal detachment, Sensorineural hearing impairment, Vi...	ORPHA:250984
Marshall Syndrome	Small proximal tibial epiphyses, Sensorineural hearing impairment, Hypoplastic nasal bone, Bifid ...	OMIM:154780
Kdm5C-Related Syndromic X-Linked Intellectual Disability	High palate, Tapered finger, Patchy alopecia, Short stature, Decreased testicular size, Short pal...	ORPHA:85279
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Femoral bowing, Short long bone, Short ribs, Ovarian cyst, Short nasal bridge, U...	OMIM:618188
Elsahy-Waters Syndrome	Cervical C2/C3 vertebral fusion, Bifid nasal tip, Pectus excavatum, Bifid uvula, Broad philtrum, ...	OMIM:211380
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio...	OMIM:619313
Stickler Syndrome	Chronic otitis media, Reduced bone mineral density, Spondylolisthesis, Abnormal form of the verte...	ORPHA:828
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Microphthalmia	ORPHA:324416
Coach Syndrome 2	Molar tooth sign on MRI, Elevated circulating hepatic transaminase concentration, Portal fibrosis...	OMIM:619111
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr...	ORPHA:30391
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Stenosis of the external auditory canal, Camptodactyly, Atresia of the external auditory canal, C...	OMIM:608257
Cat Eye Syndrome	Biliary atresia, Meckel diverticulum, Intestinal malrotation, Pulmonic stenosis, Umbilical hernia...	OMIM:115470
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Ankle flexion contracture, Hypospadias, Gastroesophageal reflux, Severe postnatal growth retardat...	ORPHA:435938
Snakebite Envenomation	Tachycardia, Hypotension, Cerebral ischemia, Cardiogenic shock, Epistaxis, Thrombocytopenia, Intr...	ORPHA:449285
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Disproportionate shortening of the tibia, Pectus carinatum, Short long bone, Short ribs, Intestin...	OMIM:263520
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Short nose, Retrognathia, Meckel diverticulum, Abnormal brainstem morphology, Dandy-Walker malfor...	ORPHA:163961
Alg9-Cdg	Narrow greater sciatic notch, Abnormal bone ossification, Enlarged kidney, Hypoplasia of the ovar...	ORPHA:79328
Cousin Syndrome	Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypoplastic ischia, An...	OMIM:260660
Cardiomyopathy, Dilated, 2H	Muscular ventricular septal defect, Neonatal death, Secundum atrial septal defect, Reduced left v...	OMIM:620203
Aredyld Syndrome	Splenomegaly, Intrauterine growth retardation, Type I diabetes mellitus, Advanced eruption of tee...	ORPHA:1133
Osteoglophonic Dysplasia	Eruption failure, Short metacarpal, Broad metatarsal, Pectus excavatum, Broad thumb, Severe short...	OMIM:166250
Klippel-Feil Syndrome 2, Autosomal Recessive	Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Sensorineural hearing impairment, Abno...	OMIM:214300
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Pontocerebellar Hypoplasia Type 10	Optic atrophy, Abnormal brainstem morphology, Highly arched eyebrow, Long eyelashes, Growth delay...	ORPHA:411493
Rheumatic Fever	Myocarditis, Abnormal aortic valve morphology, Abnormal heart valve morphology, Abnormal mitral v...	ORPHA:3099
Spondylocostal Dysostosis 5	Butterfly vertebrae, Syringomyelia, Pectus carinatum, Scoliosis, Hemivertebrae, Missing ribs, Low...	OMIM:122600
Joubert Syndrome 13	Cerebellar vermis hypoplasia, Molar tooth sign on MRI	OMIM:614173
Acro-Renal-Mandibular Syndrome	Congenital diaphragmatic hernia, Pectus carinatum, Tracheoesophageal fistula, Kyphosis, Split foo...	ORPHA:958
Holt-Oram Syndrome	Pectus excavatum, Kyphosis, Broad thumb, Joint stiffness, Absent thumb, Abnormal clavicle morphol...	ORPHA:392
Arima Syndrome	Tubulointerstitial fibrosis, Hypertension, Wide mouth, Renal sodium wasting, Stage 5 chronic kidn...	OMIM:243910
Maternal Uniparental Disomy Of Chromosome 6	Congenital adrenal hyperplasia, Thrombocytopenia, Increased serum testosterone level, Hydrocele t...	ORPHA:96181
Congenital Alveolar Capillary Dysplasia	Tracheoesophageal fistula, Intestinal malrotation, Aortic valve stenosis, Bicuspid aortic valve, ...	ORPHA:210122
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia	OMIM:229050
Alkuraya-Kucinskas Syndrome	Kinked brainstem, Edema, Adducted thumb, Overlapping toe, Ventriculomegaly, Clinodactyly, Hydroce...	OMIM:617822
Arterial Tortuosity Syndrome	Abnormal carotid artery morphology, Rocker bottom foot, Keratoglobus, Hypertension, Arachnodactyl...	ORPHA:3342
Feingold Syndrome	Orofacial cleft, Annular pancreas, Clinodactyly of the 5th finger, Esophageal atresia, Abnormal f...	ORPHA:1305
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy, Thrombocytopenia	ORPHA:67048
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
X-Linked Sideroblastic Anemia	Pallor	ORPHA:75563
Isolated Exencephaly	Polyhydramnios, Maternal diabetes, Abnormal facial skeleton morphology, Anterior pituitary hypopl...	ORPHA:563612
Platyspondylic Dysplasia, Torrance Type	Disproportionate short-limb short stature, Hypoplastic pelvis, Short distal phalanx of finger, Ge...	ORPHA:85166
Campomelic Dysplasia	Kyphoscoliosis, Disproportionate short-limb short stature, Absent sternal ossification, Dislocate...	OMIM:114290
Microcephaly With Cervical Spine Fusion Anomalies	Short stature, Spinal instability, Vertebral fusion, Spinal cord compression	OMIM:251250
Acromesomelic Dysplasia 4	Sandal gap, Short metacarpal, Accelerated skeletal maturation, Mesomelia, Metaphyseal irregularit...	OMIM:619636
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Flexion contracture of toe, Microtia, Cerebellar atrophy, Wide mouth, Recurrent aspiration pneumo...	ORPHA:280633
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Thin vermilion border, Short philtrum, Flared metaphysis, Premature loss of teeth, Short middle p...	OMIM:156510
Multiple Endocrine Neoplasia, Type Iib	High, narrow palate, Aganglionic megacolon, Thick lower lip vermilion, Pheochromocytoma, Scoliosi...	OMIM:162300
Robinow Syndrome, Autosomal Dominant 1	Retrognathia, Radial deviation of finger, Dislocated radial head, Dental crowding, Short long bon...	OMIM:180700
Hydrolethalus Syndrome 2	Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Postaxial hand polydactyly, Micrognathia, Cl...	OMIM:614120
Fanconi Anemia, Complementation Group J	Intrauterine growth retardation, Microphthalmia	OMIM:609054
Babesiosis	Congestive heart failure, Myocardial infarction, Thrombocytopenia, Leukopenia, Splenomegaly, Hemo...	ORPHA:108
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Tetramelic Monodactyly	Oligodactyly, Split hand	ORPHA:2564
Andersen Cardiodysrhythmic Periodic Paralysis	Short mandibular rami, Clinodactyly of the 5th toe, Prolonged QT interval, Prominent U wave, Dent...	OMIM:170390
Dysosteosclerosis	Optic atrophy, Abnormal metaphysis morphology, Craniofacial hyperostosis, Delayed eruption of tee...	ORPHA:1782
Myhre Syndrome	Gingival cleft, Hypertension, Large iliac wing, Joint stiffness, Bifid uvula, Unilateral cleft li...	ORPHA:2588
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Buphthalmos, Short philtrum, Nephrolithiasis, Retinal detachment, Abnormality of the palmar creas...	ORPHA:521445
Sengers Syndrome	Cardiac arrest, Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Thrombocytopenia, S...	OMIM:212350
Dislocation Of The Hip-Dysmorphism Syndrome	Abnormal palate morphology, Hearing abnormality, Abnormal tricuspid valve morphology, Inguinal he...	ORPHA:2412
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Beaking of vertebral bodies, Short nose, Lumbar platyspondyly, Narrow chest, Increased interverte...	OMIM:618961
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Decreased nerve conduction velocity, 11 pairs of ribs, Hyperextensibility of the finger joints, C...	OMIM:618356
Pulmonary Atresia-Intact Ventricular Septum Syndrome	Maternal diabetes, Abnormal tricuspid valve morphology, Pulmonary artery atresia, Premature birth...	ORPHA:1208
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Retrognathia, Abnormal bone ossification, Metaphyseal enchondromatosis, Lymphangioma, Metaphyseal...	ORPHA:99646
Igg4-Related Thyroid Disease	Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Thyroiditis, Abnormal pituitary gland mor...	ORPHA:64744
17Q12 Microduplication Syndrome	Polyhydramnios, Atrial septal defect, Microphthalmia	ORPHA:261272
Hypomandibular Faciocranial Dysostosis	Atrial septal defect, Short nose, Polyhydramnios, Recurrent respiratory infections, Anteverted na...	ORPHA:1790
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Kyphoscoliosis, Disproportionate short-limb short stature, Delayed ossification of carpal bones, ...	OMIM:271510
Kleefstra Syndrome 1	Tracheobronchomalacia, Abnormal pinna morphology, Everted lower lip vermilion, Conotruncal defect...	OMIM:610253
Caudal Regression Syndrome	Ureteral duplication, Ectopic kidney, Hypertension, Joint stiffness, Hypoplastic vertebral bodies...	ORPHA:3027
Achondrogenesis Type 1B	Short nose, Disproportionate short stature, Hydrops fetalis, Polyhydramnios, Narrow chest, Talipe...	ORPHA:93298
Pseudodiastrophic Dysplasia	Rhizomelia, Webbed neck, Talipes equinovarus, Anteverted nares, Scoliosis, Camptodactyly, Microgn...	OMIM:264180
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Isolated Congenital Hypoglossia/Aglossia	Aplasia/Hypoplasia of fingers, Temporomandibular joint ankylosis, Aspiration pneumonia, Micrognat...	ORPHA:141152
Fanconi Anemia, Complementation Group T	Thrombocytopenia, Anemia, Acute myeloid leukemia, Pancytopenia	OMIM:616435
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transam...	OMIM:602347
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Elliptocytosis, Anisocytosis, T...	OMIM:300835
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Mixed hearing impairment, Sensorineural hearing impairment, Short long bone, Prominent interphala...	OMIM:215150
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Anemia of inadequate production, Poikilocytosis, Epistaxis, Acanthocytosis, Congenital thrombocyt...	OMIM:300367
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Intestinal obstruction, Impaired lymphocyte transformation with phytohemagglutinin, Intestinal ma...	OMIM:243150
Vater/Vacterl Association	Occipital encephalocele, Ectopic kidney, Abnormal sternum morphology, Tracheoesophageal fistula, ...	OMIM:192350
Roberts-Sc Phocomelia Syndrome	Radial deviation of finger, Abnormal pinna morphology, Corneal opacity, Severe intrauterine growt...	OMIM:268300
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Bradycardia, Pulmonic stenosis, Abnormal heart morphology, Discordant atrioventricula...	ORPHA:216694
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Cervical C2/C3 vertebral fusion, Short philtrum, Low-set ears, Narrow mouth, Camptodactyly, Short...	OMIM:617333
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Abnormal form of the vertebral bodies, Hydrocephalus, Abnormal dental enamel morpholo...	ORPHA:2180
Non-Acquired Panhypopituitarism	Delayed puberty, Absence of secondary sex characteristics, Pituitary dwarfism, Osteoporosis of ve...	ORPHA:90695
Matthew-Wood Syndrome	Intrauterine growth retardation, Microphthalmia, Anophthalmia	ORPHA:2470
Auriculocondylar Syndrome 2A	Short mandibular rami, Stenosis of the external auditory canal, Dental crowding, Mandibular condy...	OMIM:614669
Microphthalmia, Syndromic 8	Microphthalmia, Premature skin wrinkling	OMIM:601349
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hyperlordosis, Everted lower lip vermilion, Umbilical hernia, Cholecystitis, Broad ribs, Hip disl...	OMIM:301066
Cutis Laxa, Autosomal Recessive, Type Ib	Congenital diaphragmatic hernia, Retrognathia, Pulmonary artery aneurysm, Arterial tortuosity, Br...	OMIM:614437
Mucopolysaccharidosis, Type Iiid	Broad alveolar ridges, Cerebellar atrophy, Joint stiffness, Hypoplastic vertebral bodies, Wide mo...	OMIM:252940
Congenital Bile Acid Synthesis Defect Type 3	Cirrhosis, Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Bi...	ORPHA:79302
Cerebrocostomandibular Syndrome	Anomalous rib insertion to vertebrae, Ectopic kidney, Glossoptosis, Short humerus, Thoracic hypop...	OMIM:117650
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Yunis-Varon Syndrome	Bilateral single transverse palmar creases, Absent sternal ossification, Small earlobe, Microtia,...	OMIM:216340
Robin Sequence-Oligodactyly Syndrome	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Abnormal form of the vertebral bo...	ORPHA:3104
Hutchinson-Gilford Progeria Syndrome	Abnormal nasal tip morphology, Retrognathia, Reduced bone mineral density, Dental crowding, Narro...	ORPHA:740
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Atrial fibrillation, Aortic valve stenosis, Tetralogy of Fallot, Double ou...	OMIM:617912
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Aymé-Gripp Syndrome	Rocker bottom foot, Congenital diaphragmatic hernia, Sensorineural hearing impairment, Microtia, ...	ORPHA:1272
Autosomal Recessive Malignant Osteopetrosis	Reduced bone mineral density, Splenomegaly, Abnormal epiphysis morphology, Craniosynostosis, Hydr...	ORPHA:667
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome	Holoprosencephaly	ORPHA:2523
Bangstad Syndrome	Convex nasal ridge, Retrognathia, Pancytopenia, Severe short stature, Goiter, Primary gonadal ins...	OMIM:210740
Hyperinsulinism Due To Ucp2 Deficiency	Pallor, Hypertrophic cardiomyopathy	ORPHA:276556
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Long nose, Recurrent otitis media, Sacral dimple, Wide nose, Low insertion of columella, Scoliosi...	OMIM:619995
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Restricted large joint movement, Abnormal vertebral morphology, Maternal diabetes, Small epiphyse...	ORPHA:93346
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Joint stiffness, Holoprosencephaly, Agenesis of corpus callos...	ORPHA:2182
Cerebrooculonasal Syndrome	Anophthalmia	ORPHA:66625
Townes-Brocks Syndrome	Delayed puberty, Ectopic kidney, Hypoplasia of penis, Absent toe, Abnormal pinna morphology, Micr...	ORPHA:857
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Scaling skin, Microphthalmia, Skin ulcer, Anophthalmia, Chylothorax, Lymphedema, Pleural effusion...	ORPHA:2526
Venous Malformations, Multiple Cutaneous And Mucosal	Venous malformation, Intestinal bleeding	OMIM:600195
Waardenburg Syndrome, Type 2E	Premature graying of hair, Vascular dilatation, Sensorineural hearing impairment, White eyebrow, ...	OMIM:611584
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Aortic Arch Interruption	Blood pressure substantially higher in arms than legs, Aortopulmonary window, Abnormal ascending ...	ORPHA:2299
Aicardi-Goutieres Syndrome 6	Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
Fanconi Anemia, Complementation Group F	Microtia, Bone marrow hypocellularity, Absent thumb, Leukopenia, Intrauterine growth retardation,...	OMIM:603467
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Sclerosing cholangitis, Esophageal varix, Cholestasis, Portal ...	OMIM:619662
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	2-4 toe cutaneous syndactyly, Retrognathia, Abnormality of the endocrine system, Pectus excavatum...	ORPHA:268261
Myh9-Related Disease	Myocardial infarction, Neutrophil inclusion bodies, Giant platelets, Spontaneous, recurrent epist...	ORPHA:182050
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Rocker bottom foot, Kyphoscoliosis, Bilateral single transverse palmar creases, Pectus carinatum,...	ORPHA:488642
Cat-Eye Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:195
Histiocytosis-Lymphadenopathy Plus Syndrome	Corneal arcus, Rocker bottom foot, Retrognathia, Flexion contracture of toe, Joint contracture of...	OMIM:602782
Congenital Contractural Arachnodactyly	Congenital kyphoscoliosis, Aortic aneurysm, Scoliosis, High palate, Tracheoesophageal fistula, Co...	ORPHA:115
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Steatorrhea, Anemia, Bone-marrow foam cells, Portal hypertension, Leukopeni...	OMIM:278000
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor	ORPHA:276608
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Abnormality of the hand, Flared femoral metaphysis, Genu valgum, Flat distal femoral epiphysis, A...	OMIM:609324
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Aortic regurgitation, Thrombocytopenia, Macrothrombocytopenia...	OMIM:603585
Leigh Syndrome	Abnormal thalamic MRI signal intensity, 3-Methylglutaconic aciduria, Generalized aminoaciduria, S...	ORPHA:506
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Optic atrophy, Synophrys, Widely-spaced incisors, Hypoplasia of the maxilla, Thick eyebrow, Smoot...	OMIM:618737
Familial Adenomatous Polyposis	Lipoma, Eruption failure, Congenital hypertrophy of retinal pigment epithelium, Odontoma, Pituita...	ORPHA:733
Mowat-Wilson Syndrome	Pectus carinatum, Pectus excavatum, Pulmonic stenosis, Generalized muscle hypertrophy, Abnormal h...	OMIM:235730
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Desbuquois Dysplasia 2	Dental crowding, Pectus carinatum, Short long bone, Flat acetabular roof, Short metacarpal, Knee ...	OMIM:615777
Aorta Coarctation	Bicuspid aortic valve, Perimembranous ventricular septal defect, Congestive heart failure, Cardio...	ORPHA:1457
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Congestive heart failure, Cardiomegaly, Aortic regurgitation, Ventriculomegaly, Cerebellar atroph...	OMIM:620066
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Genu valgum, Platyspondyly, Flat capital femoral epiphysis, Intervertebral space narrowing, Pectu...	OMIM:609223
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Oxoglutaric Aciduria	Abnormal salivary gland morphology, Hydrocephalus, Short stature, Skeletal muscle atrophy, Abnorm...	ORPHA:31
Cardiac Valvular Dysplasia 1	Left atrial enlargement, Pulmonic stenosis, Mitral valve prolapse, Edema, Hypoplasia of right ven...	OMIM:212093
Joubert Syndrome 9	Molar tooth sign on MRI, Astigmatism, Encephalocele, Retinal dystrophy, Scoliosis, Cataract, Vent...	OMIM:612285
Kawasaki Disease	Cheilitis, Palmar edema, Pericarditis, Edema, Cholecystitis, Myocarditis, Jaundice, Vasculitis, A...	ORPHA:2331
Glycogen Storage Disease Ixc	Postnatal growth retardation, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase ...	OMIM:613027
Developmental And Epileptic Encephalopathy 80	Abnormal pinna morphology, Wide mouth, Short distal phalanx of finger, Long philtrum, Ventriculom...	OMIM:618580
Atypical Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Retinopathy, Dysphagia, Tongue atrophy	ORPHA:216873
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Pallor, Hypertrophic cardiomyopathy	ORPHA:276575
Eec Syndrome	Nail dystrophy, Corneal erosion, Proximal placement of thumb, Sensorineural hearing impairment, A...	ORPHA:1896
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibro...	OMIM:616217
Hypophosphatasia, Infantile	Disproportionate short-limb short stature, Short ribs, Elevated urine pyrophosphate, Short lower ...	OMIM:241500
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Triphalangeal thumb, Postaxial hand polydactyly, Multinodular goiter, Multicystic kidney dysplasi...	ORPHA:2091
Cockayne Syndrome Type 2	Intrauterine growth retardation, Anophthalmia	ORPHA:90322
Nephrotic Syndrome, Type 7	Thrombocytopenia, Hemolytic anemia	OMIM:615008
Bleeding Disorder, Platelet-Type, 17	Gastrointestinal hemorrhage, Impaired epinephrine-induced platelet aggregation, Absence of alpha ...	OMIM:187900
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Kyphoscoliosis, Multiple joint dislocation, Kyphosis, Slender metacarpals, Metaphyseal irregulari...	ORPHA:93360
Ramos-Arroyo Syndrome	Absent retinal pigment epithelium, Abnormal autonomic nervous system physiology, Severe short sta...	ORPHA:1051
Anauxetic Dysplasia 1	Delayed ossification of carpal bones, Microdontia, Aortic valve stenosis, Severe short stature, J...	OMIM:607095
Spondyloepimetaphyseal Dysplasia, Shohat Type	Generalized bone demineralization, Short long bone, Hyperlordosis, Severe short stature, Thoracic...	ORPHA:93352
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c...	ORPHA:35858
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Disproportionate short-limb short stature, Pectus carinatum, Triangular shaped distal phalanges o...	OMIM:271665
Joubert Syndrome 28	Molar tooth sign on MRI, Highly arched eyebrow, Optic disc pallor, Joint hypermobility, Wide nasa...	OMIM:617121
Cardiomyopathy, Dilated, 1S	Congestive heart failure, Perimembranous ventricular septal defect, Single umbilical artery, Redu...	OMIM:613426
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Pallor, Hypertrophic cardiomyopathy	ORPHA:276580
9Q21.13 Microdeletion Syndrome	Postnatal growth retardation, Polydactyly, Syringomyelia, Abnormal tongue morphology, Scoliosis, ...	ORPHA:531151
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormal thorax morphology, Hypoplasia of the thymus, Metaphyseal chondrodysplasia, Lymphopenia	OMIM:200900
10Q22.3Q23.3 Microduplication Syndrome	Chronic otitis media, Abnormal clavicle morphology, Hypospadias, Abnormality of the philtrum, Low...	ORPHA:276422
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Postnatal growth retardation, Anemia, Lower-limb metaphyseal irregularity, Enlarged metaphyses, S...	OMIM:618728
Oculocerebrocutaneous Syndrome	Congenital diaphragmatic hernia, Abnormal pinna morphology, Corneal opacity, Wide mouth, Short di...	ORPHA:1647
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Retrognathia, Small epiphyses, Scoliosis, Short long bone, Glossoptosis, Knee dislocation, Cerebe...	OMIM:620269
Isolated Split Hand-Split Foot Malformation	Aniridia, Finger syndactyly, Sensorineural hearing impairment, Oligodactyly, Split hand, Absent hand	ORPHA:2440
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Joint contracture of the 5th finger, Sensorineural hearing impairment, Microdontia, Broad thumb, ...	ORPHA:324540
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Short long bone, Flat acetabular roof, Short ribs, Dumbbell-shaped long bone, Hypoplastic ischia,...	OMIM:151210
Goldberg-Shprintzen Syndrome	Corneal erosion, Highly arched eyebrow, Everted lower lip vermilion, Sparse hair, Aganglionic meg...	OMIM:609460
Ring Chromosome 22 Syndrome	Wide nasal base, 2-3 toe syndactyly, Lymphedema, Pleural effusion, Protruding tongue, Growth dela...	ORPHA:1446
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia	OMIM:620603
Proteus-Like Syndrome	Bronchogenic cyst, Venous insufficiency, Genu recurvatum, Retinal detachment, Anteverted nares, O...	ORPHA:2969
Pierpont Syndrome	Microphthalmia, Excessive wrinkling of palmar skin	ORPHA:487825
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Absent stapes head, Abnormal pinna morphology, Bilateral conductive hearing impairment, Abnormali...	OMIM:128980
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Spinal rigidity, Reduced bone mineral density, Short long bone, Glossopto...	ORPHA:94068
Achondroplasia	Narrow greater sciatic notch, Femoral bowing, Short ribs, Trident hand, Thoracic hypoplasia, Lumb...	OMIM:100800
Marshall-Smith Syndrome	Retrognathia, Reduced bone mineral density, Accelerated skeletal maturation, Joint hypermobility,...	ORPHA:561
Fucosidosis	Absent/hypoplastic paranasal sinuses, Absent/hypoplastic coccyx, Splenomegaly, Cardiomegaly, Coxa...	OMIM:230000
Carpenter Syndrome 2	Retrognathia, Highly arched eyebrow, Sensorineural hearing impairment, Pectus carinatum, Pectus e...	OMIM:614976
Joubert Syndrome 7	Molar tooth sign on MRI, Genu valgum, Nephronophthisis, Encephalocele, Retinal dystrophy, Scolios...	OMIM:611560
Marcus-Gunn Syndrome	Postnatal growth retardation, Coloboma, Choanal atresia, Nephrolithiasis, Abnormal ear morphology...	ORPHA:91412
Immunodeficiency 46	Anemia, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Postnatal growth retardation, Large placenta, Polyhydramnios, Diastasis recti, Omphalocele, Coat ...	ORPHA:254534
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Thrombocytopenia, Cerebral hemorrhage, Epistaxis, Hemorrhage of the eye	ORPHA:3002
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Cervical myelopathy, Delayed pubic bone ossification, Limitation of knee ...	OMIM:183900
Wilson Disease	Face of the giant panda sign, Sunflower cataract, Portal fibrosis, Ascites, Acute hepatic failure...	OMIM:277900
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Multiple Endocrine Neoplasia Type 2	Kyphoscoliosis, Elevated urinary vanillylmandelic acid, Multiple mucosal neuromas, Pheochromocyto...	ORPHA:653
Biliary Atresia, Extrahepatic	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:210500
Spondyloepiphyseal Dysplasia, Stanescu Type	Kyphoscoliosis, Beaking of vertebral bodies, Internal tibial torsion, Stiff neck, Vertebral wedgi...	OMIM:616583
Subaortic Stenosis-Short Stature Syndrome	Bilateral single transverse palmar creases, Low-set, posteriorly rotated ears, Inguinal hernia, A...	ORPHA:3191
Orofaciodigital Syndrome Ii	Bifid nasal tip, Pectus excavatum, Syndactyly, Metaphyseal irregularity, Accessory oral frenulum,...	OMIM:252100
Progressive Pseudorheumatoid Arthropathy Of Childhood	Wrist swelling, Hyperlordosis, Generalized osteoporosis, Broad femoral neck, Abnormality of hand ...	ORPHA:1159
Vacterl With Hydrocephalus	Microphthalmia, Polyhydramnios, Anophthalmia, Spina bifida, Intrauterine growth retardation	ORPHA:3412
Trisomy 8Q	Hypoplasia of penis, Everted lower lip vermilion, Myelomeningocele, Abnormal oral frenulum morpho...	ORPHA:1752
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Acute lymph...	ORPHA:158057
Andersen-Tawil Syndrome	Clinodactyly of the 5th toe, Prolonged QT interval, Polymorphic ventricular tachycardia, Prominen...	ORPHA:37553
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Disproportionate short-...	ORPHA:174
Van Den Ende-Gupta Syndrome	Dislocated radial head, Small earlobe, Dental crowding, Femoral bowing, Short ribs, Everted lower...	OMIM:600920
Familial Short Qt Syndrome	Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor...	ORPHA:51083
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Short greater sciatic notch, Pectus carinatum, Flat acetabular r...	ORPHA:93314
Genetic Transient Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasia, Umbilical her...	ORPHA:226316
Tsh-Secreting Pituitary Adenoma	Delayed puberty, Vertigo, Hypertension, Female hypogonadism, Hypogonadism, Central adrenal insuff...	ORPHA:91347
Thanatophoric Dysplasia, Type I	Breech presentation, Disproportionate short-limb short stature, Short greater sciatic notch, Wide...	OMIM:187600
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Short nose, Rhizomelia, Platyspondyly, 11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac w...	OMIM:300863
Sarcoidosis	Decreased liver function, Increased T cell count, Nephrocalcinosis, Leukopenia, Abnormal conjunct...	ORPHA:797
Pendred Syndrome	Thyroid carcinoma, Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo, Hypot...	ORPHA:705
Wildervanck Syndrome	Fused cervical vertebrae, Webbed neck, Hearing impairment, Abducens palsy, Abnormality of the out...	OMIM:314600
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Short statu...	ORPHA:67045
Symphalangism, Proximal, 1A	Tarsal synostosis, Distal symphalangism of hands, Proximal symphalangism of hands, Conductive hea...	OMIM:185800
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Short nose, Hearing abnormality, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ear...	ORPHA:2031
Otopalatodigital Syndrome, Type I	Nail dystrophy, Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowin...	OMIM:311300
Woolly Hair Nevus	Woolly scalp hair, Persistent pupillary membrane, Heterochromia iridis, Curly hair, Widely-spaced...	ORPHA:79414
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Muscular dystrophy, Pelvic girdle muscle weakness, Exercise-induced myoglobinuria, Scoliosis, Hyp...	OMIM:607155
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
8Q22.1 Microdeletion Syndrome	Sandal gap, Highly arched eyebrow, Abnormal pinna morphology, Hypogonadism, Long philtrum, Cranio...	ORPHA:178303
Joubert Syndrome 16	Polydactyly, Molar tooth sign on MRI, Nephronophthisis, Encephalocele, Retinal dystrophy, Dandy-W...	OMIM:614465
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Spondyloenchondrodysplasia With Immune Dysregulation	Kyphoscoliosis, Tubulointerstitial fibrosis, T lymphocytopenia, Recurrent sinusitis, Metaphyseal ...	OMIM:607944
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Spondyloocular Syndrome	Duodenal ulcer, Femur fracture, Sensorineural hearing impairment, Pectus carinatum, Low posterior...	OMIM:605822
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Increased circulating androstenedione concentration, Increased serum testosterone level, Adrenoco...	ORPHA:90791
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hypertension, Hyperli...	ORPHA:189427
Spondylometaphyseal Dysplasia, Schmidt Type	Narrow greater sciatic notch, Kyphoscoliosis, Short long bone, Severe short stature, Abnormality ...	ORPHA:93316
Bleeding Disorder, Platelet-Type, 21	Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind...	OMIM:617443
Marfan Syndrome	Limited elbow movement, Retrognathia, Reduced bone mineral density, Spondylolisthesis, Dental cro...	ORPHA:558
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Abnormal heart morphology, Intrauterine growth retardation, Neutropenia, Optic atrophy, Jaundice,...	ORPHA:79282
Achondrogenesis, Type Ia	Hypoplastic sacrum, Abnormal foot bone ossification, Broad clavicles, Abnormal hand bone ossifica...	OMIM:200600
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Distal Duplication 5Q	Absent thumb, Long philtrum, Craniosynostosis, Hypoplasia of the ulna, Hypoplasia of the radius, ...	ORPHA:96097
Myopathy, Myofibrillar, 7	Spinal rigidity, Urinary incontinence, Increased Z-disc width, Dysphagia, Scoliosis, Elbow flexio...	OMIM:617114
Mannosidosis, Alpha B, Lysosomal	Spondylolisthesis, Sensorineural hearing impairment, Pectus carinatum, Femoral bowing, Cerebellar...	OMIM:248500
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema, Cerebral edema	ORPHA:439218
Limb Body Wall Complex	Congenital diaphragmatic hernia, Aplasia/hypoplasia involving bones of the upper limbs, Anencepha...	ORPHA:2369
Primary Pulmonary Hypoplasia	Pneumothorax, Abnormal hemidiaphragm morphology, Patellar hypoplasia, Dextrocardia, Low-set ears,...	ORPHA:2257
Costello Syndrome	Limited elbow movement, Rhabdomyosarcoma, Pectus carinatum, Pulmonic stenosis, Premature birth, M...	OMIM:218040
Intellectual Developmental Disorder, Autosomal Dominant 70	Retrognathia, Retinal telangiectasia, Chiari type I malformation, Low hanging columella, Retinal ...	OMIM:620157
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Ivory epiphyses of the toes, Cone-shaped epiphyses of the phalanges of the hand, Hyperlordosis, F...	OMIM:226980
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Pancytopenia, Lymphocytosis, Vasculitis, Abnormal T cell count...	OMIM:308240
Moebius Syndrome	Aplasia of the pectoralis major muscle, Corneal opacity, Everted lower lip vermilion, Microdontia...	ORPHA:570
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of...	OMIM:609616
Joubert Syndrome 22	Molar tooth sign on MRI, Retinal dysplasia, 2-3 toe syndactyly, Coloboma, Postaxial hand polydact...	OMIM:615665
Fetal Iodine Deficiency Disorder	Hearing impairment, Congenital goiter, Congenital hypothyroidism	OMIM:228355
Intellectual Disability, Buenos-Aires Type	Reduced bone mineral density, Clinodactyly of the 5th finger, Pectus carinatum, Mandibular progna...	ORPHA:3079
Cardiomyopathy, Dilated, 2D	Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov...	OMIM:619371
Mucopolysaccharidosis Type 6	Chronic otitis media, Abnormal metaphysis morphology, Thick lower lip vermilion, Genu valgum, Abn...	ORPHA:583
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Kyphoscoliosis, Proximal muscle weakness in upper limbs, Lower limb amyotrophy, Upper limb amyotr...	ORPHA:496689
Joubert Syndrome 40	Postaxial polydactyly, Optic nerve hypoplasia, Molar tooth sign on MRI, Depressed nasal bridge	OMIM:619582
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Absent extraocular muscles, Abnormality of the vertebral column, Hydrocephalus, Sensorineural hea...	OMIM:109120
Nestor-Guillermo Progeria Syndrome	Left atrial enlargement, Limited elbow movement, Nail dystrophy, Dental crowding, Hypertension, S...	OMIM:614008
Melioidosis	Lung abscess, Pneumonia, Liver abscess, Foot osteomyelitis, Acute infectious pneumonia, Parotitis...	ORPHA:31202
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Narrow greater sciatic notch, Delayed pubic bone ossification, Disproportionate short-limb short ...	OMIM:184250
Orofaciodigital Syndrome Type 5	Abnormal oral frenulum morphology, Bifid uvula, Accessory oral frenulum, Aganglionic megacolon, A...	ORPHA:2919
Occipital Horn Syndrome	Pectus carinatum, Large iliac wing, Cholestasis, Absent tibia, Kyphosis, Pectus excavatum, Dyspha...	ORPHA:198
Meckel Syndrome 13	Occipital encephalocele, Molar tooth sign on MRI, Polycystic kidney dysplasia, Retinopathy, Micro...	OMIM:617562
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Decreased nerve conduction velocity, Abnormal pelvic girdle bone morphology, Furrowed tongue, Mic...	ORPHA:2928
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Kyphoscoliosis, Everted lower lip vermilion, Aortic valve stenosis, Mitral valve prolapse, Cardio...	ORPHA:324410
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Abnormal bone ossification, Thin metacarpal cortices, Pectus excavatum, Low posterior hairline, A...	ORPHA:2463
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Cardiomyopathy	OMIM:613155
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Joubert Syndrome 15	Molar tooth sign on MRI, Preaxial polydactyly, Nephronophthisis, Retinal dystrophy, Coloboma, Ret...	OMIM:614464
Opsismodysplasia	Disproportionate short-limb short stature, Short long bone, Flat acetabular roof, Short metacarpa...	OMIM:258480
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Kyphoscoliosis, Pectus excavatum, Sparse hair, Joint hypermobility, Hip dislocation, Short statur...	OMIM:615349
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Abnormal aortic arch morphology, Abnormal descending aorta morphology, Aortopulmonary window, Lef...	ORPHA:99050
Spondyloepiphyseal Dysplasia Tarda	Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse...	ORPHA:93284
Melnick-Needles Syndrome	Cone-shaped epiphyses of the phalanges of the hand, Short distal phalanx of finger, Joint hypermo...	ORPHA:2484
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia, Epistaxis	OMIM:273900
Dyggve-Melchior-Clausen Disease	Abnormal hip bone morphology, Abnormal femoral head morphology, Pectus carinatum, Short long bone...	ORPHA:239
Williams-Beuren Syndrome	Kyphoscoliosis, Premature graying of hair, Sensorineural hearing impairment, Hypertension, Pectus...	OMIM:194050
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Delayed puberty, Lipoma, Lower-limb joint contracture, Sensorineural hearing impairment, Everted ...	ORPHA:459070
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increased mean platelet volume, Impa...	OMIM:153670
Holoprosencephaly 3	Abnormality of the nose, Central diabetes insipidus, Cyclopia, Solitary median maxillary central ...	OMIM:142945
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Clinodactyly of the 5th finger, Cerebellar vermis hypoplasia, Vent...	OMIM:619123
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Iron deficiency anemia, Neutropenia in ...	OMIM:603909
Holoprosencephaly-Craniosynostosis Syndrome	Clinodactyly of the 5th finger, Short stature, Delayed skeletal maturation, Hypoplastic vertebral...	ORPHA:2163
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Short stature, Abnormal rib morphology	ORPHA:2435
Aspergillosis	Sinusitis, Neutropenia, Hypersensitivity pneumonitis, Nasal congestion, Pulmonary fibrosis, Pneum...	ORPHA:1163
Harrod Syndrome	Long nose, Abnormal shoulder morphology, Hypospadias, Scoliosis, Narrow mouth, High palate, Catar...	ORPHA:2115
Loeys-Dietz Syndrome 4	Retrognathia, Arterial tortuosity, Spondylolisthesis, Abnormal sternum morphology, Aortic tortuos...	OMIM:614816
Juberg-Hayward Syndrome	Highly arched eyebrow, Abnormal finger morphology, Abnormal eyebrow morphology, Severe short stat...	ORPHA:2319
Three M Syndrome 2	Pectus carinatum, Hyperlordosis, Prominent calcaneus, Delayed skeletal maturation, Severe short s...	OMIM:612921
Chromosome 8Q22.1 Duplication Syndrome	Cubitus valgus, Short metatarsal, Cervical C2/C3 vertebral fusion, Gastroesophageal reflux, Genu ...	OMIM:151200
Raine Syndrome	Mixed hearing impairment, Highly arched eyebrow, Abnormal pinna morphology, Pectus excavatum, Mic...	OMIM:259775
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Microtia, Femoral bowing, Short metacarpal, Delayed skeletal maturation, Craniosynostosis, Overla...	OMIM:616723
Lathosterolosis	Bilobate gallbladder, 2-4 toe cutaneous syndactyly, Chiari type II malformation, Foam cells with ...	OMIM:607330
Cutis Laxa, Autosomal Recessive, Type Iic	Kyphoscoliosis, Dental crowding, Nephrocalcinosis, Mitral valve prolapse, Joint hypermobility, Lo...	OMIM:617402
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Urethral atresia, Single umbilical artery, Inguinal hernia, Scoliosis, Hemivertebrae, Short ribs,...	OMIM:271520
Dyggve-Melchior-Clausen Disease	Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape...	OMIM:223800
Multicentric Osteolysis, Nodulosis, And Arthropathy	Kyphoscoliosis, Ankylosis of feet small joints, Thin metacarpal cortices, Corneal opacity, Wrist ...	OMIM:259600
Isovaleric Acidemia	Cerebellar hemorrhage, Thrombocytopenia, Leukopenia, Pancytopenia	OMIM:243500
Lynch Syndrome	Neoplasm of the stomach, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal polypo...	ORPHA:144
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Optic atrophy, Hepatomegaly, Abnormal brainstem morphology, Vertigo, Lymphedema, Hypertrophic car...	ORPHA:79279
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Decreased circulating ACTH concentration, Decreased ...	OMIM:613986
Recon Progeroid Syndrome	Proximal placement of thumb, Dental crowding, Microtia, Narrow nasal ridge, Arachnodactyly, Joint...	OMIM:620370
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD8-positive T cells, ...	OMIM:619802
Maxillonasal Dysplasia	Abnormal nostril morphology, Short nose, Patchy distortion of vertebrae, Scoliosis, Open bite, Ma...	ORPHA:1248
Caroli Syndrome	Hematemesis, Elevated circulating hepatic transaminase concentration, Conjunctival icterus, Leuko...	ORPHA:480520
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Tricuspid valve prolapse, Aniridia, Anophthalmia, Umbilical hernia	ORPHA:1101
Pentalogy Of Cantrell	Congenital diaphragmatic hernia, Anencephaly, Abnormal sternum morphology, Abnormal tibia morphol...	ORPHA:1335
Charcot-Marie-Tooth Disease Type 1F	Urinary incontinence, Optic nerve hypoplasia, Sensorineural hearing impairment, Flexion contractu...	ORPHA:101085
Warsaw Breakage Syndrome	Postnatal growth retardation, Clinodactyly of the 5th finger, Single transverse palmar crease, 2-...	OMIM:613398
Sitosterolemia 1	Xanthelasma, Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Ep...	OMIM:210250
White Forelock With Malformations	Abnormal palate morphology, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Sp...	ORPHA:2475
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Restricted large joint movement, Abnormal vertebral morphology, Platyspondyly, Abnormal ilium mor...	ORPHA:163665
Graves Disease	Increased circulating free T3, Congestive heart failure, Decreased thyroid-stimulating hormone le...	OMIM:275000
Epiphyseal Dysplasia, Multiple, 7	Monkey wrench femoral neck, Vertebral wedging, Flat acetabular roof, Epiphyseal dysplasia, Hypopl...	OMIM:617719
Renpenning Syndrome 1	Pectus excavatum, Sparse hair, Hypospadias, Short philtrum, Brittle hair, Scoliosis, Phimosis, Ca...	OMIM:309500
Joubert Syndrome 30	Molar tooth sign on MRI, Retinal dystrophy, Dandy-Walker malformation, Cerebellar atrophy, Postax...	OMIM:617622
Stickler Syndrome, Type Iv	Astigmatism, Genu valgum, Flat capital femoral epiphysis, Intervertebral space narrowing, Platysp...	OMIM:614134
Primary Myelofibrosis	Anemia, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, Portal hypertension, Poikilocyt...	ORPHA:824
Spondyloperipheral Dysplasia	Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Sensorineural hear...	OMIM:271700
Loeys-Dietz Syndrome 2	Retrognathia, Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm,...	OMIM:610168
Congenital Myopathy 22B, Severe Fetal	Retrognathia, Spinal rigidity, Breech presentation, Dental crowding, Pectus excavatum, Ascites, N...	OMIM:620369
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Aplasia of the distal phalanx of the 5th toe, Small earlobe, Corneal opacity, Everted lower lip v...	ORPHA:364577
Axenfeld-Rieger Syndrome, Type 2	Anal stenosis, Hypospadias, Short philtrum, Inguinal hernia, Hydrocephalus, Microcornea, Mandibul...	OMIM:601499
Greenberg Dysplasia	Abnormal bone ossification, Rhizomelia, Narrow chest, Abnormal form of the vertebral bodies, Abno...	ORPHA:1426
Lissencephaly 8	Occipital encephalocele, Microphthalmia	OMIM:617255
Thyroid Dyshormonogenesis 5	Growth delay, Goiter, Hypothyroidism	OMIM:274900
Thyroid Dyshormonogenesis 4	Growth delay, Goiter, Hypothyroidism	OMIM:274800
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Polyhydramnios	ORPHA:2547
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Anemia, Increased mean corpuscular volume, Hypertension, Pulmonary arterial hypertension, Siderob...	OMIM:617021
Pseudoachondroplasia	Disproportionate short-limb short stature, Short long bone, Short metacarpal, Kyphosis, Metaphyse...	OMIM:177170
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Precocious puberty in males, Increased serum...	OMIM:202010
Mandibulofacial Dysostosis With Alopecia	Bicuspid aortic valve, Hydroureter, Stenosis of the external auditory canal, Microtia, Dental cro...	OMIM:616367
Clark-Baraitser syndrome	Thick lower lip vermilion, Genu valgum, Genu recurvatum, Anteverted nares, Scoliosis, Prominent m...	OMIM:300602
Gaucher Disease	Delayed puberty, Corneal opacity, Joint stiffness, Delayed skeletal maturation, Retinopathy, Leuk...	ORPHA:355
Cronkhite-Canada Syndrome	Dystrophic fingernails, Hepatomegaly, Intestinal polyposis, Anemia, Gastrointestinal carcinoma, S...	ORPHA:2930
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Reduced bone mineral density, Delayed ossification of carpal bones, Irregular acetabular roof, Sh...	OMIM:617974
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Congenital diaphragmatic hernia, Ureteral duplication, Biliary atresia, Pancreatic aplasia, Intes...	ORPHA:2255
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Retrognathia, Dental crowding, Narrow nasal ridge, Pulmonic stenosis, Joint hypermobility, Ventri...	OMIM:618343
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Ollier Disease	Abnormal metaphysis morphology, Anemia, Bone pain, Micromelia, Joint stiffness, Precocious pubert...	ORPHA:296
Craniometaphyseal Dysplasia, Autosomal Dominant	Mixed hearing impairment, Calvarial osteosclerosis, Tooth malposition, Flared metaphysis, Dental ...	OMIM:123000
Thyroid Hormone Resistance, Generalized, Autosomal Dominant	Goiter, Impaired sensitivity to thyroid hormone, Increased circulating free T4 concentration, Inc...	OMIM:188570
Okamoto Syndrome	Urinary incontinence, Intestinal malrotation, Abnormal mitral valve morphology, Aortic valve sten...	ORPHA:2729
Sialuria	High, narrow palate, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:3166
Occipital Horn Syndrome	Pectus carinatum, Broad clavicles, Limited knee extension, Kyphosis, Pectus excavatum, Persistent...	OMIM:304150
Lmna-Related Cardiocutaneous Progeria Syndrome	Premature graying of hair, Ventricular hypertrophy, Hypertension, Pulmonary carcinoid tumor, Aort...	ORPHA:363618
Grant Syndrome	Abnormal palate morphology, Joint dislocation, Narrow chest, Wormian bones, Open bite, Bowing of ...	ORPHA:2097
Gallbladder Disease 1	Jaundice, Pancreatitis, Elevated circulating hepatic transaminase concentration, Cholelithiasis, ...	OMIM:600803
Spondylometaphyseal Dysplasia, Kozlowski Type	Narrow greater sciatic notch, Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand,...	OMIM:184252
Relapsing Fever	Anemia, Leukocytosis, Hypotension, Neutrophilia, Thrombocytopenia, Leukopenia, Epistaxis, Tachyca...	ORPHA:91547
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal epiphysis morphology, Abnormal rib morphology, Enamel hypoplasia, Downturned corners of ...	ORPHA:2643
Poland Syndrome	Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Reduced bone mineral den...	ORPHA:2911
Thyroid Cancer, Nonmedullary, 4	Basal cell carcinoma, Ovarian neoplasm, Papillary thyroid carcinoma, Prostate cancer, Goiter	OMIM:616534
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla...	OMIM:139090
Dysspondyloenchondromatosis	Kyphoscoliosis, Abnormal ulnar metaphysis morphology, Abnormal fibula morphology, Genu valgum, Jo...	ORPHA:85198
Vitamin B12-Unresponsive Methylmalonic Acidemia	Anemia, Macrocytic anemia, Cardiomyopathy, Thrombocytopenia, Leukopenia	ORPHA:27
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Prominent fingertip pads, Cerebellar atrophy, Everted lower lip vermilion, Broad thumb, Joint hyp...	OMIM:617804
Seckel Syndrome 9	Congenital diaphragmatic hernia, Polyhydramnios, Recurrent respiratory infections, Ventriculomega...	OMIM:616777
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Ventricular septal defect	OMIM:602501
Diets-Jongmans Syndrome	Congenital diaphragmatic hernia, Long ear, Polyhydramnios, Breech presentation, Hypospadias, Ingu...	OMIM:618846
Thyroid Dyshormonogenesis 3	Increased T3/T4 ratio, Goiter, Thyroid carcinoma, Compensated hypothyroidism	OMIM:274700
Autoinflammation With Infantile Enterocolitis	Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Diffuse alveolar hemorrhage, Reduced natura...	OMIM:616050
Van Esch-O'Driscoll Syndrome	Retrognathia, Microtia, Cerebellar atrophy, Tracheoesophageal fistula, Bifid uvula, Wide mouth, I...	OMIM:301030
Joubert Syndrome 32	Molar tooth sign on MRI, Postaxial hand polydactyly, Hypertrophic cardiomyopathy, Abnormal cerebe...	OMIM:617757
Microtia	Hypoplastic helices, Unilateral conductive hearing impairment, Microtia, Abnormal pinna morpholog...	ORPHA:83463
Deafness-Lymphedema-Leukemia Syndrome	Pallor, Lymphedema	ORPHA:3226
Nphp3-Related Meckel-Like Syndrome	Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Polyhydramnios, Dandy-Wa...	ORPHA:3032
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Urinary incontinence, Breech presentation, Femoral bowing, Tibial bowing, Kyphosis, Mesomelia, Se...	OMIM:616482
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anemia, Cardiomyopathy, Thrombocytopenia, Splenomegaly, Neutropenia	ORPHA:79312
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Short philtrum, Delayed eruption of teeth, Sensorineural hearing impairment, Osteoporosis, Short ...	ORPHA:71267
Sotos Syndrome	Chronic otitis media, Ureteral duplication, Pectus excavatum, Kyphosis, Accelerated skeletal matu...	ORPHA:821
Oculodentodigital Dysplasia, Autosomal Recessive	2-4 toe cutaneous syndactyly, Hypoplasia of the primary teeth, Long nose, Dental crowding, Persis...	OMIM:257850
Meningioma	Urinary incontinence, Trigeminal neuralgia, Neoplasm of the tongue, Neoplasm of the skin, Upper l...	ORPHA:2495
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Nail dystrophy, Female hypogonadism, Nephrocalcinosis, Type I diabetes mellitus, Adrenal insuffic...	OMIM:240300
Bone Marrow Failure Syndrome 4	Thrombocytopenia, Anemia, Leukopenia	OMIM:618116
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Oligohydramnios, Hypertrophic cardiomyopathy	OMIM:619053
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Femoral bowing, Short long bone, Short ribs, Absent tibia, Intestinal malrotatio...	OMIM:613091
Gaucher Disease Type 1	Delayed puberty, Ascites, Delayed skeletal maturation, Erlenmeyer flask deformity of the femurs, ...	ORPHA:77259
Retinal Dystrophy With Or Without Extraocular Anomalies	Goiter, Retinal dystrophy, Pulmonary fibrosis	OMIM:617175
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Leuk...	ORPHA:98850
Auriculocondylar Syndrome 4	Glossoptosis, Narrow mouth, Question mark ear, Hearing impairment, Micrognathia, Cleft palate	OMIM:620457
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:48431
Gaucher Disease, Type I	Anemia, Pancytopenia, Hypertension, Pulmonary arterial hypertension, Aortic valve stenosis, Throm...	OMIM:230800
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Thrombocytopenia, Hemolytic anemia, Lymphopenia	OMIM:616744
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Portal hypertension, Thrombocytopenia, Lymphopenia, Type I diabetes mellitus, Cryptorchidism	OMIM:620365
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Palmoplantar keratoderma, Recurrent respiratory infections, Multiple muscular ventricular septal ...	OMIM:615508
Bardet-Biedl Syndrome 1	Radial deviation of finger, Bone spicule pigmentation of the retina, Hyperautofluorescent macular...	OMIM:209900
Aicardi-Goutieres Syndrome 4	Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Pancytopenia	OMIM:610333
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Abnormal metacarpal morphology, Sensorineural hearing impairment, Pectus carinatum, Glossoptosis,...	ORPHA:166100
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Breech presentation, Asymmetry of the...	OMIM:250250
H Syndrome	Corneal arcus, Delayed puberty, Enlarged kidney, Delayed skeletal maturation, Abnormal eyebrow mo...	ORPHA:168569
Pulmonary Atresia With Intact Ventricular Septum	Hypoplastic right heart, Pulmonary artery atresia	OMIM:265150
Systemic Lupus Erythematosus	Pericarditis, Thrombocytopenia, Leukopenia, Hemolytic anemia	OMIM:152700
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal salivary gland morphology, Abnormal pancreas morphology, Chola...	ORPHA:449432
Thyroid Cancer, Nonmedullary, 1	Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma	OMIM:188550
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Decreased thyroid-stimulating hormone level, Anterior pituitary agenesis, Decreased circulating A...	OMIM:620303
Atelis Syndrome 1	Hypothyroidism, Thrombocytopenia, Leukopenia, Anemia	OMIM:620184
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Axonal degeneration, Scoliosis, Lower limb muscle weakness, Upper limb muscle weakness, Areflexia...	OMIM:616155
Mucopolysaccharidosis, Type X	Broad clavicles, Hyperlordosis, Vitreous floaters, Dermatan sulfate excretion in urine, Aortic va...	OMIM:619698
Brachyolmia Type 1, Toledo Type	Kyphoscoliosis, Abnormal odontoid process morphology, Squared-off platyspondyly, Precocious costo...	OMIM:271630
Autosomal Dominant Brachyolmia	Abnormal metaphysis morphology, Kyphoscoliosis, Increased vertebral height, Short thorax, Short s...	ORPHA:93304
Orofaciodigital Syndrome Xix	Retrognathia, Bifid nasal tip, Microdontia, Low posterior hairline, Accessory oral frenulum, Tong...	OMIM:620107
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Ventricular septal defect	OMIM:613730
Blepharochalasis And Double Lip	Goiter, Duplication of the upper lip, Blepharochalasis	OMIM:109900
Evans Syndrome	Petechiae, Pallor	ORPHA:1959
Brown-Vialetto-Van Laere Syndrome 1	Recurrent respiratory infections, Sensorineural hearing impairment, Scoliosis, Tongue fasciculati...	OMIM:211530
Alkaptonuria	Brown pigmentation of the conjunctiva, Limitation of knee mobility, Decreased glomerular filtrati...	OMIM:203500
Leukocyte Adhesion Deficiency Type Ii	Palpebral edema, Severe periodontitis, Small earlobe, Microtia, Lower limb hypertonia, Umbilical ...	ORPHA:99843
Absent Radius-Anogenital Anomalies Syndrome	Hypoplasia of the radius, Rectovaginal fistula, Hydrocephalus, Perineal fistula, Oligodactyly, Ec...	ORPHA:3016
Hermansky-Pudlak Syndrome 9	Thrombocytopenia, Leukopenia, Abnormal platelet aggregation	OMIM:614171
Deafness, Autosomal Dominant 87	Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II	OMIM:620281
Congenital Disorder Of Glycosylation, Type Iik	Thrombocytopenia	OMIM:614727
Hyperinsulinism Due To Hnf1A Deficiency	Pallor	ORPHA:324575
Weill-Marchesani Syndrome 1	Broad metatarsal, Joint stiffness, Pulmonic stenosis, Aortic valve stenosis, Broad ribs, Narrow p...	OMIM:277600
Orofaciodigital Syndrome Xvi	Retrognathia, Molar tooth sign on MRI, Inguinal hernia, Low-set ears, Postaxial hand polydactyly,...	OMIM:617563
Loeys-Dietz Syndrome 1	Retrognathia, Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm,...	OMIM:609192
Right Atrial Isomerism	Abnormal lung lobation, Situs inversus totalis, Right atrial isomerism, Transposition of the grea...	OMIM:208530
Thyroid Dyshormonogenesis 2A	Hypothyroidism, Goiter, Decreased circulating T4 concentration, Thyroid defect in oxidation and o...	OMIM:274500
Hall-Riggs Syndrome	Abnormal metaphysis morphology, Platyspondyly, Thick hair, Delayed eruption of teeth, Slow-growin...	ORPHA:2107
Camurati-Engelmann Disease	Delayed puberty, Abnormal femur morphology, Hyperlordosis, Kyphosis, Leukopenia, Splenomegaly, Hy...	ORPHA:1328
Garg-Mishra Progeroid Syndrome	Postnatal growth retardation, Narrow chest, Slender long bone, Dental crowding, Microvesicular he...	OMIM:620601
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Narrow greater sciatic notch, Kyphoscoliosis, Dislocated radial head, Delayed ossification of car...	OMIM:617425
Rhabdoid Tumor	Thrombocytopenia, Hypertension, Anemia, Internal hemorrhage	ORPHA:69077
Orofaciodigital Syndrome Type 3	Cerebellar vermis hypoplasia, Dandy-Walker malformation, Thoracic kyphosis, Low-set ears, Abnorma...	ORPHA:2752
Preeclampsia	Elevated diastolic blood pressure, Elevated systolic blood pressure, Hypertension, Thrombocytopen...	ORPHA:275555
Hypermobile Ehlers-Danlos Syndrome	Anorectal anomaly, Vertigo, Dental crowding, Abnormal autonomic nervous system physiology, Microd...	ORPHA:285
Van Der Woude Syndrome	Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip...	ORPHA:888
Fibrous Dysplasia Of Bone	Abnormal femur morphology, Precocious puberty in females, Abnormality of the endocrine system, Ov...	ORPHA:249
Chime Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Corneal opacity, Microdontia, Aplasia/Hypoplasia...	ORPHA:3474
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect, Pulmonary artery atresia	OMIM:178370
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Abnorm...	ORPHA:86839
Gm1-Gangliosidosis, Type I	Kyphosis, Joint stiffness, Hypoplastic vertebral bodies, Severe short stature, Splenomegaly, Intr...	OMIM:230500
Holzgreve Syndrome	Single umbilical artery, Low-set, posteriorly rotated ears, Webbed neck, Abnormal metacarpal morp...	ORPHA:2167
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Oculomotor nerve palsy, Facial palsy, Furrowed tongue, Abnormality of retinal pigmentation	ORPHA:2743
Pyruvate Kinase Deficiency Of Red Cells	Intrauterine growth retardation, Pallor, Nonimmune hydrops fetalis	OMIM:266200
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	3-Methylglutaconic aciduria, Jaundice, Elevated circulating hepatic transaminase concentration, H...	OMIM:203700
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Fused cervical vertebrae, Scoliosis, Anal atresia, Prominent metopic ridge, Short stature, Short ...	OMIM:309620
Pierpont Syndrome	Microphthalmia	OMIM:602342
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Pancytopenia, Decreased proportion of CD4-...	OMIM:613011
Osteogenesis Imperfecta, Type Ii	Disproportionate short-limb short stature, Crumpled long bones, Tibial bowing, Multiple prenatal ...	OMIM:166210
Hypoglossia With Situs Inversus	Situs inversus totalis, Narrow mouth, High palate, Low-set ears, Asplenia, Micrognathia, Microglo...	OMIM:612776
Menkes Disease	Abnormal carotid artery morphology, Gastrointestinal hemorrhage, Pectus excavatum, Prolonged neon...	ORPHA:565
Thanatophoric Dysplasia, Type Ii	Decreased fetal movement, Polyhydramnios, Platyspondyly, Narrow chest, Short greater sciatic notc...	OMIM:187601
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Tarsal synostosis, Fused cervical vertebrae, Webbed neck, Scoliosis, Absent phalangeal crease, An...	OMIM:618469
Geleophysic Dysplasia 1	Short long bone, Wrist flexion contracture, Pectus excavatum, Joint stiffness, Delayed skeletal m...	OMIM:231050
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Decreased FOXP3-expressing T cell count, Hypothyroidism, Type I diabetes mellitus, Thromb...	OMIM:304790
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole...	ORPHA:567983
Dyskeratosis Congenita	Premature graying of hair, Nail dystrophy, Neoplasm of the pancreas, Anorectal anomaly, Tracheoes...	ORPHA:1775
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Right aortic arch, Supraumbilical raphe, Coarctation of aorta, Cavernous hemangiom...	OMIM:140850
Schinzel-Giedion Midface Retraction Syndrome	Tibial bowing, Ureteral stenosis, Abnormal nasopharynx morphology, Short distal phalanx of finger...	OMIM:269150
Sclerosteosis 1	Optic atrophy, Tooth malposition, Broad clavicles, Mandibular prognathia, Facial palsy, Abnormal ...	OMIM:269500
Vascular Ehlers-Danlos Syndrome	Pulmonary artery aneurysm, Vertigo, Arteriovenous fistulas of celiac and mesenteric vessels, Abno...	ORPHA:286
Agel Amyloidosis	Nail dystrophy, Keratoconjunctivitis sicca, Blepharochalasis, Corneal ulceration, Facial palsy, A...	ORPHA:85448
Marfan Syndrome	Kyphoscoliosis, Retrognathia, Spondylolisthesis, Dental crowding, Pectus carinatum, Pectus excava...	OMIM:154700
Spondyloepimetaphyseal Dysplasia, Irapa Type	Disproportionate short-limb short stature, Pectus carinatum, Short metacarpal, Hypoplastic pelvis...	ORPHA:93351
Generalized Glucocorticoid Resistance Syndrome	Abnormal circulating testosterone concentration, Increased urinary cortisol level, Hypertension, ...	ORPHA:786
Lacrimoauriculodentodigital Syndrome 1	Recurrent corneal erosions, Mixed hearing impairment, Limbal stem cell deficiency, Microtia, Micr...	OMIM:149730
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Short philtrum, Abnormally low T cell...	OMIM:617237
Vitamin D-Dependent Rickets, Type 2A	Bulging of the costochondral junction, Femoral bowing, Tibial bowing, Metaphyseal irregularity, R...	OMIM:277440
Jeune Syndrome	Abnormal sternum morphology, Cone-shaped epiphysis, Abnormal clavicle morphology, Nephronophthisi...	ORPHA:474
Wolfram Syndrome 1	Diabetes insipidus, Megaloblastic anemia, Cardiomyopathy, Hypothyroidism, Sideroblastic anemia, T...	OMIM:222300
Kinsship Syndrome	Dislocated radial head, Mesomelia, Wide mouth, Cervical ribs, Ventriculomegaly, Coxa valga, Hip d...	OMIM:619297
Thyroid Lymphoma	Lymphadenopathy, Lymphoma, Hypothyroidism, Hashimoto thyroiditis, Hyperthyroidism, Dysphagia, Goiter	ORPHA:97285
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Osteoarthritis of the elbow, Abnormality of the wrist, Hip osteoarthritis, Joint subl...	ORPHA:2619
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors	Euthyroid multinodular goiter, Papillary thyroid carcinoma	OMIM:138800
Magel2-Related Prader-Willi-Like Syndrome	Small pituitary gland, Kyphosis, Hypogonadism, Hypothalamic luteinizing hormone-releasing hormone...	ORPHA:398069
Heterotaxy, Visceral, 2, Autosomal	Situs inversus totalis, Transposition of the great arteries, Atrioventricular canal defect, Dextr...	OMIM:605376
Hypothyroidism Due To Tsh Receptor Mutations	Elevated circulating thyroid-stimulating hormone concentration, Impaired sensitivity to thyroid s...	ORPHA:90673
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Kyphoscoliosis, Premature pubarche, Hirsutism, Short stature, Lumbar scoliosis, Lower limb underg...	OMIM:612847
Hallermann-Streiff Syndrome	Reduced bone mineral density, Short ribs, Glossoptosis, Sparse hair, Rib exostoses, Abnormality o...	ORPHA:2108
Phocomelia, Schinzel Type	Hypoplasia of penis, Aplasia/Hypoplasia involving the pelvis, Tracheoesophageal fistula, Intraute...	ORPHA:2879
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Arteriovenous malformation, Hamartomatous ...	ORPHA:2929
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Fused cervical vertebrae, Scoliosis, Anal atresia, Short stature, Short middle phalanx of finger,...	ORPHA:1436
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, Abnormal p...	OMIM:601399
Loeys-Dietz Syndrome 6	Congenital diaphragmatic hernia, Arterial tortuosity, Abnormal sternum morphology, Ventricular hy...	OMIM:619656
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Rapp-Hodgkin Syndrome	Nail dystrophy, Decreased number of sweat glands, Microdontia, Bifid uvula, Syndactyly, Sparse ha...	OMIM:129400
Bruck Syndrome 1	Ankle flexion contracture, Hearing abnormality, Platyspondyly, Pterygium, Vertebral wedging, Pect...	OMIM:259450
Carney Complex	Neoplasm of the stomach, Ductal carcinoma in situ, Neoplasm of the pancreas, Hypertension, Pituit...	ORPHA:1359
Anemia, Congenital Dyserythropoietic, Type Ib	Pallor	OMIM:615631
Split-Hand/Foot Malformation 3	Nail dystrophy, Abnormal pinna morphology, High palate, Narrow mouth, Split hand, Camptodactyly, ...	OMIM:246560
Multiple Osteochondromas	Peripheral nerve compression, Intestinal obstruction, Cervical myelopathy, Abnormal femur morphol...	ORPHA:321
Craniofacial-Deafness-Hand Syndrome	Short nose, Abnormality of the wrist, Sensorineural hearing impairment, Narrow mouth, Depressed n...	ORPHA:1529
Fadd-Related Immunodeficiency	Decreased liver function, Hepatic fibrosis, Ventricular septal defect, Pulmonary artery atresia	ORPHA:306550
Craniotubular Dysplasia, Ikegawa Type	Broad femoral neck, Long philtrum, Broad ribs, Optic atrophy, Diaphyseal dysplasia, Anteverted na...	OMIM:619727
Spondyloepiphyseal Dysplasia, Kimberley Type	Genu valgum, Flat capital femoral epiphysis, Proportionate short stature, Delayed skeletal matura...	OMIM:608361
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Dravet Syndrome	Pallor	ORPHA:33069
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Retrognathia, Prominent fingertip pads, Hyperlordosis, Microdontia, Eclabion, Wide mouth, Joint h...	OMIM:619950
Neurocardiofaciodigital Syndrome	Retrognathia, Syndactyly, Lateral ventricle dilatation, Sparse hair, Polydactyly, Cerebellar verm...	OMIM:619869
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Patent foramen ovale, Pulmonic stenosis, Lens coloboma, Umbilical hernia	OMIM:618914
Fibrochondrogenesis 2	Short nose, Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Anteverted nares, Sh...	OMIM:614524
Nablus Mask-Like Facial Syndrome	Retrognathia, Sandal gap, Highly arched eyebrow, Small earlobe, Everted lower lip vermilion, Spar...	OMIM:608156
Immunodeficiency 32B	Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, Impaired oxida...	OMIM:226990
Wiskott-Aldrich Syndrome	Chronic otitis media, Hematemesis, Sinusitis, Arrhythmia, Abnormal platelet morphology, Hematoche...	ORPHA:906
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Aplasia of the distal phalanx of the 5th toe, Sensorineural hearing impairment, Corneal opacity, ...	OMIM:608670
Brachyolmia, Maroteaux Type	Abnormal form of the vertebral bodies, Short thorax, Scoliosis, Pectus excavatum, Short stature, ...	ORPHA:93302
Leishmaniasis	Pallor, Skin ulcer	ORPHA:507
Arthrogryposis, Distal, Type 5D	Hypermobility of distal interphalangeal joints, Limited elbow movement, Highly arched eyebrow, Hy...	OMIM:615065
Hartnup Disorder	Glossitis, Elevated urinary indoleacetic acid level, Neutral hyperaminoaciduria, Short stature	OMIM:234500
Aortic Valve Disease 2	Calcification of the aorta, Aortic regurgitation, Aortic aneurysm, Patent foramen ovale, Aortic t...	OMIM:614823
Split-Hand/Foot Malformation 1	Triphalangeal thumb, Abnormal pinna morphology, Split hand, Ectrodactyly, Finger aplasia, Hearing...	OMIM:183600
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Genu valgum, Cubitus valgus, Metaphyseal striations, Sensorineural hearing impairment...	OMIM:608154
Meier-Gorlin Syndrome 3	Absent sternal ossification, Microtia, Short ribs, Delayed skeletal maturation, Sparse axillary h...	OMIM:613803
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Urinary incontinence, Lower limb amyotrophy, Cerebellar atrophy, Upper limb muscle weakness, Cong...	ORPHA:466768
Chondrodysplasia Punctata 2, X-Linked Dominant	Kyphoscoliosis, Abnormal pinna morphology, Stippled calcification in carpal bones, Sparse hair, E...	OMIM:302960
Myotonic Dystrophy 1	Atrial flutter, Polyhydramnios, Frontal balding, Cholelithiasis, Atrial fibrillation, Facial dipl...	OMIM:160900
Thyroid Hormone Plasma Membrane Transport Defect	Euthyroid hyperthyroxinemia, Goiter	OMIM:188560
Deiodinase, iodothyronine, type I	Euthyroid hyperthyroxinemia, Goiter	OMIM:147892
Spondyloepimetaphyseal Dysplasia, Irapa Type	Limited elbow extension, Hypoplastic sacrum, Genu valgum, Platyspondyly, Short metatarsal, Enlarg...	OMIM:271650
Metaphyseal Chondrodysplasia, Schmid Type	Femoral bowing, Broad femoral neck, Abnormal proximal femoral metaphysis morphology, Distal tibia...	OMIM:156500
Neurofibromatosis Type 1	Delayed puberty, Rhabdomyosarcoma, Spinal neurofibroma, Abnormal hip bone morphology, Abnormality...	ORPHA:636
Spondyloepimetaphyseal Dysplasia, Shohat Type	Narrow greater sciatic notch, Disproportionate short-limb short stature, Short ribs, Splenomegaly...	OMIM:602557
Intellectual Developmental Disorder, Autosomal Dominant 66	Transposition of the great arteries, Clinodactyly of the 5th finger, Aortic root aneurysm, Pectus...	OMIM:619910
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Neoplasm of the lung, Pr...	ORPHA:1332
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Tetraamelia Syndrome 1	Abnormal clavicle morphology, Congenital diaphragmatic hernia, Single umbilical artery, Single na...	OMIM:273395
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Clinodactyly of the 5th finger, Bilateral cleft palate, Abnormal aortic morphology, Intestinal ma...	ORPHA:2001
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Wide anterior fontanel, Hypoplasia of the thymus, D...	OMIM:617241
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Intrauterine growth retardation, Microphthalmia, Oligohydramnios, Encephalocele	ORPHA:228390
Hypomandibular Faciocranial Dysostosis	Coronal craniosynostosis, Hypoplasia of the maxilla, Micrognathia, Choanal stenosis, Optic disc c...	OMIM:241310
Charcot-Marie-Tooth Disease Type 4B2	Optic atrophy, Decreased distal sensory nerve action potential, Kyphoscoliosis, Developmental gla...	ORPHA:99956
X-Linked Agammaglobulinemia	Chronic otitis media, Anemia, Sensorineural hearing impairment, Arthritis, Abnormality of the ton...	ORPHA:47
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Cholelithiasis, Normochromic anemia, Bradycardia, Hypertrophic card...	OMIM:618775
Lethal Congenital Contracture Syndrome Type 1	Polyhydramnios, Abnormal hip bone morphology, Low-set, posteriorly rotated ears, Webbed neck, Sle...	ORPHA:1486
Tularemia	Tachycardia, Thrombocytopenia, Anemia, Leukocytosis	ORPHA:3392
Dental Anomalies And Short Stature	Amelogenesis imperfecta, Widely spaced teeth, Intervertebral space narrowing, Oligodontia, Scolio...	OMIM:601216
Atelosteogenesis, Type Iii	Widened distal phalanges, Tombstone-shaped proximal phalanges, Sandal gap, Tibial bowing, Flat ac...	OMIM:108721
Triokinase And Fmn Cyclase Deficiency Syndrome	Dilated cardiomyopathy, Microphthalmia	OMIM:618805
Gorlin-Chaudhry-Moss Syndrome	Astigmatism, Patent ductus arteriosus, Abnormal metacarpal morphology, Oligodontia, Abnormality o...	ORPHA:2095
Loeys-Dietz Syndrome 3	Retrognathia, Arterial tortuosity, Spondylolisthesis, Abnormal sternum morphology, Pectus carinat...	OMIM:613795
Gaucher Disease, Type Iii	Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:231000
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ...	OMIM:276820
Lymphatic Malformation 6	Abnormal pinna morphology, Pectus excavatum, Ascites, Nonimmune hydrops fetalis, Splenomegaly, Ed...	OMIM:616843
Lymphatic Malformation 7	Pulmonary edema, Facial edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuch...	OMIM:617300
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Joint hemorrhage, Thrombocytopenia, Epistaxis	OMIM:277480
Steinert Myotonic Dystrophy	Elevated circulating hepatic transaminase concentration, Intestinal pseudo-obstruction, Neoplasm ...	ORPHA:273
Prader-Willi Syndrome	Small pituitary gland, Decreased circulating gonadotropin concentration, Hypertension, Hypogonadi...	ORPHA:739
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Proximal placement of thumb, Tracheoesophageal fistula, Short humerus, Absent ra...	OMIM:314390
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Retrognathia, Descending thoracic aorta aneurysm, Abnormal sternum morphology, Hypertension, Arac...	ORPHA:91387
Fanconi Anemia, Complementation Group V	Thrombocytopenia, Anemia, Neutropenia	OMIM:617243
Congenital Disorder Of Glycosylation, Type Iq	Cutis laxa, Microphthalmia, Dry skin	OMIM:612379
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Widow's peak, Low-set, posteriorly rotated ears, Sparse eyelashes, Cleft palate, Bifid nose, Cata...	ORPHA:306542
Von Willebrand Disease	Gastrointestinal hemorrhage, Muscle hemorrhage, Abnormal platelet function, Joint hemorrhage, Thr...	ORPHA:903
Dysostosis, Stanescu Type	Hyperlordosis, Pectus excavatum, Kyphosis, Tooth agenesis, Persistent open anterior fontanelle, M...	ORPHA:1798
Mandibuloacral Dysplasia	Postnatal growth retardation, Hyperinsulinemia, Abnormal tongue morphology, Dental crowding, Shor...	ORPHA:2457
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Bicuspid aortic valve, Joint hypermobility, Craniosynostosis, Intrauterine growth retardation, Lo...	OMIM:300707
Orofaciodigital Syndrome Type 2	Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod...	ORPHA:2751
Auriculocondylar Syndrome 1	Anterior open-bite malocclusion, Stenosis of the external auditory canal, Dental crowding, Mandib...	OMIM:602483
Deafness, Progressive, With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	OMIM:601449
Progressive Deafness With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	ORPHA:3235
Portal Hypertension, Noncirrhotic, 2	Epistaxis, Thrombocytopenia, Splenomegaly, Portal hypertension	OMIM:619463
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Disproportionate short-limb short stature, Hypoplasia of penis, Short ribs, Urethrovaginal fistul...	ORPHA:93271
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Narrow greater sciatic notch, Disproportionate short-limb short stature, Femoral bowing, Flat ace...	OMIM:608728
Osteopetrosis With Renal Tubular Acidosis	Retrognathia, Retinal atrophy, Pectus excavatum, Bone marrow hypocellularity, Enlarged tonsils, L...	ORPHA:2785
Joubert Syndrome 33	Cone/cone-rod dystrophy, Splenomegaly, Molar tooth sign on MRI, Syndactyly	OMIM:617767
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Abnormal peripheral nerve morphology by anatomical site,...	ORPHA:88628
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Oculogastrointestinal Neurodevelopmental Syndrome	Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Short ribs, Hypoplastic ischia, Intestinal malrotation, Thoracic hypoplasia, Ventriculomegaly, Hy...	OMIM:617866
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Microtia, Tracheoesophageal fistula, Neutropenia, Pancytopenia, Cystathioninuria, Megaloblastic a...	OMIM:277380
Rhabdomyosarcoma, Embryonal, 2	Pleuropulmonary blastoma, Ovarian thecoma, Thyroid nodule, Multinodular goiter, Embryonal rhabdom...	OMIM:180295
Fibrochondrogenesis	Abnormal form of the vertebral bodies, Short ribs, Broad ribs, Hearing abnormality, Anteverted na...	ORPHA:2021
Malan Syndrome	Short nose, Advanced eruption of teeth, Astigmatism, Retrognathia, Gingival overgrowth, Scoliosis...	OMIM:614753
Parkes Weber Syndrome	Hemangiomatosis, Arteriovenous malformation, Arteriovenous fistula, Abnormality of the upper limb...	ORPHA:90307
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal metaphysis morphology, Osteopenia, Platyspondyly, Flat capital femoral epiphysis, Absent...	ORPHA:157965
Multiple Synostoses Syndrome 2	Finger symphalangism, Tarsal synostosis, Talipes equinovarus, Wide nose, Humeroradial synostosis,...	OMIM:610017
Isolated Agammaglobulinemia	Thrombocytopenia, Abnormality of neutrophils, Abnormal lymphocyte morphology, Anemia	ORPHA:229717
Microcephaly 13, Primary, Autosomal Recessive	Subglottic stenosis, Metaphyseal sclerosis, Restrictive cardiomyopathy, Short foot, Prominent nos...	OMIM:616051
Microcephaly 26, Primary, Autosomal Dominant	Dysplastic corpus callosum, Short nose, Gingival overgrowth, Scoliosis, Patent foramen ovale, Pro...	OMIM:619179
Cole-Carpenter Syndrome 2	Postnatal growth retardation, Osteopenia, Lambdoidal craniosynostosis, Platyspondyly, Hydrocephal...	OMIM:616294
3Mc Syndrome 2	Limited elbow movement, Highly arched eyebrow, Broad philtrum, Joint hypermobility, Craniosynosto...	OMIM:265050
Charcot-Marie-Tooth Disease Type 4C	Optic atrophy, Difficulty in tongue movements, Hammertoe, Weakness of facial musculature, Trigemi...	ORPHA:99949
Branchioskeletogenital Syndrome	Mixed hearing impairment, Highly arched eyebrow, Upper limb peromelia, Pectus excavatum, Ureteral...	ORPHA:1299
Lymphedema-Distichiasis Syndrome	Abnormality of the pulmonary vasculature, Fibrosarcoma, Corneal erosion, Webbed neck, Patent duct...	ORPHA:33001
Goiter, Multinodular 2	Euthyroid multinodular goiter	OMIM:300273
Bent Bone Dysplasia Syndrome 2	Hypoplastic iliac wing, Femoral bowing, Short ribs, Short lower limbs, Intrauterine growth retard...	OMIM:620076
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Narrow greater sciatic notch, Short long bone, Corneal opacity, Short metacarpal, Retinal atrophy...	ORPHA:85167
Ring Chromosome 13 Syndrome	Aplasia/hypoplasia involving bones of the hand, Hypoplasia of the gallbladder, Anencephaly, Prima...	ORPHA:96176
Myasthenic Syndrome, Congenital, 10	Weakness of facial musculature, Distal amyotrophy, Proximal amyotrophy, Decreased fetal movement,...	OMIM:254300
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Leprosy	Abnormal seventh cranial physiology, Abnormality of the adrenal glands, Iritis, Loss of eyelashes...	ORPHA:548
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Idiopathic Pulmonary Hemosiderosis	Cardiomegaly, Pallor	ORPHA:99931
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Anemia	ORPHA:2123
Stt3B-Cdg	Cryptorchidism, Thrombocytopenia	ORPHA:370924
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Thrombocytopenia, Anemia, Neutropenia	ORPHA:289916
Heterotaxy, Visceral, 6, Autosomal	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot...	OMIM:614779
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Enlarged kidney, Abnormal right ventricle morphology, Sensorineural hearing impairment, Tibial bo...	ORPHA:500095
Congenital Tracheal Stenosis	Abnormal earlobe morphology, Meckel diverticulum, Tracheoesophageal fistula, Oligohydramnios, Ano...	ORPHA:141127
Burning Mouth Syndrome	Smooth tongue, Tongue pain, Abnormality of taste sensation, Strawberry tongue, Abnormality of the...	ORPHA:353253
Ellis Van Creveld Syndrome	Microdontia, Abnormal oral frenulum morphology, Delayed skeletal maturation, Short distal phalanx...	ORPHA:289
Scleromyxedema	Abnormality of the hand, Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Stro...	ORPHA:167635
Catastrophic Antiphospholipid Syndrome	Myocarditis, Myocardial infarction, Angina pectoris, Transient ischemic attack, Pulmonary arteria...	ORPHA:464343
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron...	ORPHA:98849
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abnormal CD4:CD8 ratio, Neutropenia	OMIM:150550
Heterotaxy, Visceral, 12, Autosomal	Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P...	OMIM:619702
Osteogenesis Imperfecta, Type V	Osteopenia, Anterior radial head dislocation, Platyspondyly, Vertebral wedging, Hyperextensibilit...	OMIM:610967
Keipert Syndrome	Broad distal phalanx of finger, Clinodactyly of the 5th finger, Short hallux, Sensorineural heari...	ORPHA:2662
Familial Multiple Nevi Flammei	Arteriovenous malformation, Venous insufficiency, Abnormal cranial nerve morphology, Scoliosis, A...	ORPHA:624
Dengue Fever	Gastrointestinal hemorrhage, Hypotension, Thrombocytopenia, Leukopenia, Epistaxis, Cerebral hemor...	ORPHA:99828
Aortic Aneurysm, Familial Thoracic 9	Dural ectasia, Atrial fibrillation, Pectus carinatum, High palate, Aortic tortuosity, Pectus exca...	OMIM:616166
Specific Granule Deficiency 2	Thrombocytopenia, Absent neutrophil specific granules, Anemia, Neutropenia	OMIM:617475
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Anemia, Splenomegaly	OMIM:615085
Laubry-Pezzi Syndrome	Elevated pulmonary artery pressure, Congestive heart failure, Perimembranous ventricular septal d...	ORPHA:99094
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Disproportionate short-limb short stature, Pectus carinatum, Scoliosis, Pectus exc...	OMIM:259440
Fibrodysplasia Ossificans Progressiva	Abnormality of the first metatarsal bone, Widely spaced teeth, Clinodactyly of the 5th finger, Sh...	OMIM:135100
Osteoarthritis With Mild Chondrodysplasia	Beaking of vertebral bodies, Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Short stat...	OMIM:604864
Marshall Syndrome	Sensorineural hearing impairment, Hypoplastic frontal sinuses, Sparse hair, Long philtrum, Anteve...	ORPHA:560
Auriculocondylar Syndrome	Dental crowding, Abnormal pinna morphology, Mandibular condyle hypoplasia, Glossoptosis, Vein of ...	ORPHA:137888
Fanconi Anemia, Complementation Group W	Hypoplasia of the radius, Decreased response to growth hormone stimulation test, Abnormal radial ...	OMIM:617784
Severe Generalized Junctional Epidermolysis Bullosa	Renal tubular epithelial necrosis, Nail dystrophy, Bradycardia, Ureterocele, Edema, Squamous cell...	ORPHA:79404
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation	Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga, Short greater sciatic notch	OMIM:271620
Non-Functioning Paraganglioma	Pallor	ORPHA:94080
Kikuchi-Fujimoto Disease	Palpebral edema, Elevated circulating hepatic transaminase concentration, Lymphocytosis, Leukopen...	ORPHA:50918
Ivic Syndrome	Limited elbow movement, Intestinal malrotation, Absent thumb, Hypoplasia of the ulna, Hypoplasia ...	OMIM:147750
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Bilateral single transverse...	ORPHA:1972
Osteopetrosis, Autosomal Recessive 4	Thrombocytopenia, Anemia, Splenomegaly, Reticulocytosis	OMIM:611490
Pseudodiastrophic Dysplasia	Rhizomelia, Scoliosis, Omphalocele, Malar flattening, Platyspondyly, Phalangeal dislocation, Elbo...	ORPHA:85174
Thrombocytopenia 10	Decreased mean platelet volume, Spontaneous, recurrent epistaxis, Thrombocytopenia	OMIM:620484
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Palpitations, Rhabdomyolysis, Hyperthyroidism, Tachycardia, Goiter	OMIM:188580
Congenital Disorder Of Glycosylation, Type Ix	Cryptorchidism, Thrombocytopenia	OMIM:615597
Kyphomelic Dysplasia	Femoral bowing, Tibial bowing, Flat acetabular roof, Short metacarpal, Short humerus, Thoracic hy...	OMIM:211350
Osteogenesis Imperfecta, Type X	Tibial bowing, Dentinogenesis imperfecta, Thoracic hypoplasia, Joint hypermobility, Broad ribs, R...	OMIM:613848
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Joubert Syndrome 27	Polydactyly, Molar tooth sign on MRI, Thick lower lip vermilion, Retinopathy	OMIM:617120
Acquired Purpura Fulminans	Thrombocytopenia, Intracranial hemorrhage, Internal hemorrhage, Shock	ORPHA:49566
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Congestive heart failure, Platyspondyly, Abnormal intervertebral disk morphology, Avascular necro...	ORPHA:1345
Pontocerebellar Hypoplasia, Type 1B	Cerebellar cyst, Retinal dystrophy, Tongue fasciculations, Cerebellar atrophy, Growth delay, Flex...	OMIM:614678
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperactive renin-angiotensin system, Adrenal hyperplasia, Decreased circulating cortisol level, ...	ORPHA:90790
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Thrombocytopenia, Leukopenia	OMIM:231095
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hypertension, Hyperlipidemia, Reticulocytosis, Thrombocytopenia, Microangiopathic hemolytic anemi...	OMIM:235400
Pseudohypoparathyroidism Type 1B	Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l...	ORPHA:94089
Multicentric Carpotarsal Osteolysis Syndrome	Ankle swelling, Metacarpal osteolysis, Wrist swelling, Osteopenia, Congenital diaphragmatic herni...	OMIM:166300
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Anal atresia, Decreased testicular size, Macrotia, Short stature, Hypoplas...	ORPHA:93950
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Retrognathia, Abnormality of the endocrine system, Pulmonic stenosis, Abnormal heart morphology, ...	ORPHA:438213
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Portal hypertension, Thrombocytopenia, Hepatosplenomegaly	ORPHA:210136
Specc1L-Related Hypertelorism Syndrome	Ectopic kidney, Highly arched eyebrow, Everted lower lip vermilion, Pectus excavatum, Umbilical h...	ORPHA:1519
Antley-Bixler Syndrome	Short nose, Low-set, posteriorly rotated ears, Narrow chest, Anteverted nares, Delayed cranial su...	ORPHA:83
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Hypertension, Anemia, Microangiopathic hemolytic anemia	OMIM:612924
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Short finger, Rhizomelia, Irregular epiphyses, Platyspondyly, Barrel-shaped chest, Mandibular pro...	OMIM:612813
Irida Syndrome	Pallor	ORPHA:209981
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Anemia, Pancytopenia, Pulmonary arterial hypertension, Thrombocytopenia, Leukopenia, Diabetes mel...	OMIM:613845
Carney Complex, Type 1	Congestive heart failure, Thyroid carcinoma, Red hair, Pheochromocytoma, Cardiac myxoma, Hirsutis...	OMIM:160980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Left ventricular hypertrophy	OMIM:613153
Avascular Necrosis Of Femoral Head, Primary, 2	Short stature, Avascular necrosis of the capital femoral epiphysis, Platyspondyly	OMIM:617383
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Deafness, X-Linked 2	Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm...	OMIM:304400
Joubert Syndrome 20	Molar tooth sign on MRI, Renal cyst, 4-5 toe syndactyly, Postaxial polydactyly, Retinopathy	OMIM:614970
Cog4-Cdg	Thrombocytopenia, Hypercholesterolemia, Hepatosplenomegaly	ORPHA:263501
Developmental And Epileptic Encephalopathy 31B	Optic atrophy, Gingival overgrowth, Low-set ears, Protruding tongue, Colpocephaly, Agenesis of co...	OMIM:620352
Fetal Gaucher Disease	Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage	ORPHA:85212
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Disproportionate short-limb short stature, Short long bone, Femoral bowing, Hyperlordosis, Kyphos...	OMIM:618019
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pallor	OMIM:613839
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short long bone...	OMIM:250220
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Nasofrontal encephalocele, Ocular anterior segment dysgenesis, Small pituitary gland, Hydrocephal...	OMIM:614195
Campomelia, Cumming Type	Hepatomegaly, Hydrops fetalis, Abnormal intestine morphology, Pancreatic cysts, Bowing of the lon...	ORPHA:1318
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Thrombocytopenia, Hypertension, Anemia, Microangiopathic hemolytic anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Thrombocytopenia, Hypertension, Anemia, Microangiopathic hemolytic anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Thrombocytopenia, Hypertension, Anemia, Microangiopathic hemolytic anemia	OMIM:612926
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Narrow chest, Pectus carinatum, Scoliosis, Mandibular prognathia, High palate, Pectus excavatum, ...	OMIM:300676
Thoracolaryngopelvic Dysplasia	Bell-shaped thorax, Hypoplastic iliac wing, Scoliosis, Short ribs, Hypoplastic pelvis, Irregular ...	OMIM:187760
Familial Congenital Mirror Movements	Fused cervical vertebrae, Abnormal corticospinal tract morphology, Hypogonadotropic hypogonadism,...	ORPHA:238722
Pelger-Huet Anomaly	Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Abnormality of neutroph...	OMIM:169400
Multiple Benign Circumferential Skin Creases On Limbs	Edema, Microphthalmia, Umbilical hernia	ORPHA:2505
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Situs inversus totalis, Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Venous insufficiency, Neoplasm of the skin, Lymphedema...	ORPHA:33276
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Rocker bottom foot, Abnormal pinna morphology, Femoral bowing, Arachnodactyly, Long philtrum, Hyd...	OMIM:207410
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hemophagocytosis, B lymphocytopenia, Agranulocytosis, Thrombocytopen...	OMIM:301078
Dyskeratosis Congenita, Autosomal Recessive 2	Thrombocytopenia, Testicular atrophy, Pancytopenia	OMIM:613987
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Pallor	OMIM:611590
Osteogenesis Imperfecta, Type I	Osteopenia, Aortic aneurysm, Otosclerosis, Femoral bowing, Hearing impairment, Thin skin, Biconca...	OMIM:166200
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Dehydration	OMIM:214150
Propionic Acidemia	Cerebellar hemorrhage, Anemia, Pancytopenia, Cardiomyopathy, Thrombocytopenia, Neutropenia	OMIM:606054
Histiocytoid Cardiomyopathy	Pulmonary edema, Microphthalmia, Congenital aphakia, Cardiomegaly, Pallor, Ventricular septal defect	ORPHA:137675
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
Pseudohypoparathyroidism Type 1A	Reduced bone mineral density, Prolonged QT interval, Sensorineural hearing impairment, Hypertensi...	ORPHA:79443
Ravine Syndrome	Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem, Abnormal auditory ev...	ORPHA:99852
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Subglottic stenosis, Broad jaw, Exaggerated cupid's bow, High palate, Bulbous nose, Broad thumb, ...	OMIM:614501
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Delayed puberty, Kyphoscoliosis, Small pituitary gland, Short stature, Carious teeth, Ulnar devia...	OMIM:612079
Intellectual Developmental Disorder, Autosomal Recessive 68	Broad eyebrow, Hydrocephalus, Cerebellar atrophy, Synophrys, Hypoplasia of the maxilla, Protrudin...	OMIM:618302
Severe Combined Immunodeficiency, X-Linked	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the thymu...	OMIM:300400
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Aqueductal stenosis, Abnormal fibula morphology, Tibial bowing, Bowing of the long bones, Abnorma...	ORPHA:3035
Lig4 Syndrome	Pancytopenia, Hypothyroidism, Acute lymphoblastic leukemia, Thrombocytopenia, Type II diabetes me...	OMIM:606593
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Kyphoscoliosis, Radial deviation of finger, Sensorineural hearing impairment, Microtia, Hypoplast...	OMIM:309580
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Widening of cervical spinal canal, Fusion of midcervical facet joints, Cardiomyopathy, Nemaline b...	OMIM:606842
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Short 4th metacarpal, High, narrow palate, Joint dislocation, Glossoptosis, Tapered finger, Short...	ORPHA:3201
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hyperthyroid...	OMIM:613239
Rere-Related Neurodevelopmental Syndrome	Intrauterine growth retardation, Microphthalmia, Abnormal heart morphology, Ventricular septal de...	ORPHA:494344
Intellectual Developmental Disorder, Autosomal Dominant 53	Frontal upsweep of hair, Genu valgum, Microtia, Ventricular septal defect, Intestinal malrotation...	OMIM:617798
Hydrolethalus Syndrome 1	Anencephaly, Abnormal pinna morphology, Intrauterine growth retardation, Hypospadias, Accessory s...	OMIM:236680
Omodysplasia 1	Disproportionate short-limb short stature, Limited knee extension, Short humerus, Umbilical herni...	OMIM:258315
Morquio Syndrome C	Platyspondyly, Corneal opacity, Severe short stature	OMIM:252300
Primrose Syndrome	Delayed puberty, Reduced bone mineral density, Pectus excavatum, Kyphosis, Generalized osteoporos...	OMIM:259050
Second Metatarsal-Metacarpal Syndrome	Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology	OMIM:269630
Thymic Neuroendocrine Tumor	Osteopenia, Neoplasm of the endocrine system, Mediastinal lymphadenopathy, Pancreatic islet cell ...	ORPHA:97289
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Male hypogonadism, Abnormal peripheral nerve morphology by anatomical site, Decreased serum testo...	ORPHA:168563
Spondylocamptodactyly Syndrome	Platyspondyly, Camptodactyly of finger, Scoliosis	ORPHA:3180
Coach Syndrome 3	Molar tooth sign on MRI, Nephronophthisis, Portal fibrosis, Anemia, Stage 5 chronic kidney diseas...	OMIM:619113
Ring Chromosome 10 Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:1438
Cockayne Syndrome Type 1	Anophthalmia	ORPHA:90321
Proteasome-Associated Autoinflammatory Syndrome 1	Premature graying of hair, Flexion contracture of toe, Elevated circulating hepatic transaminase ...	OMIM:256040
Norrie Disease	Delayed puberty, Aplasia/Hypoplasia of the lens, Sensorineural hearing impairment, Corneal opacit...	ORPHA:649
Gangliocytoma	Spinal cord tumor, Neoplasm of the central nervous system, Syringomyelia, Adrenocorticotropic hor...	ORPHA:251937
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Pontocerebellar atrophy, Hyperlordosis, Cardiomyopathy, Cerebral edema, Dysphagia, Abnormal brain...	ORPHA:258
Aicardi-Goutieres Syndrome 5	Thrombocytopenia	OMIM:612952
Laryngotracheoesophageal Cleft Type 4	Abnormal form of the vertebral bodies, Tracheoesophageal fistula, Abnormal rib morphology, Abnorm...	ORPHA:93941
Macrophage Activation Syndrome	Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Thrombocytope...	ORPHA:158061
Kindler Epidermolysis Bullosa	Cheilitis, Corneal opacity, Dysphagia, Abnormality of the anus, Short 4th metacarpal, Squamous ce...	ORPHA:2908
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid valve prolapse, Microphthalmia, Anophthalmia, Hypertrophic cardiomyopathy, Mitral valve...	ORPHA:2556
Craniopharyngioma	Delayed puberty, Vertigo, Cerebral ischemia, Hypogonadism, Central adrenal insufficiency, Optic a...	ORPHA:54595
Craniolenticulosutural Dysplasia	Decreased skull ossification, Microdontia, High iliac wing, Posterior Y-sutural cataract, Wide mo...	ORPHA:50814
Spondylometaphyseal Dysplasia, A4 Type	Limitation of joint mobility, Coxa vara, Micromelia, Short palm, Flared, irregular rib ends, Seve...	ORPHA:168555
Lymphedema-Distichiasis Syndrome	Microphthalmia, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops f...	OMIM:153400
Congenital Total Pulmonary Venous Return Anomaly	Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter...	ORPHA:99125
Acrorenal-Mandibular Syndrome	Kyphoscoliosis, Congenital diaphragmatic hernia, Split foot, Intrauterine growth retardation, Oli...	OMIM:200980
Glutaric Aciduria Iii	Goiter, Glutaric aciduria, Hypertension, Hyperthyroidism	OMIM:231690
Adams-Oliver Syndrome 2	Microphthalmia, Oligohydramnios	OMIM:614219
Sim1-Related Prader-Willi-Like Syndrome	Small pituitary gland, Hypogonadism, Hypothalamic luteinizing hormone-releasing hormone deficienc...	ORPHA:398079
Beta-Ketothiolase Deficiency	Edema, Pallor, Dehydration	ORPHA:134
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Hypophosphatemic Rickets, X-Linked Dominant	Femoral bowing, Tibial bowing, Metaphyseal irregularity, Enamel hypomineralization, Rickets, Fibu...	OMIM:307800
Okur-Chung Neurodevelopmental Syndrome	Highly arched eyebrow, Abnormal heart morphology, Umbilical hernia, Joint hypermobility, Inguinal...	OMIM:617062
Congenital Enterovirus Infection	Myocarditis, Anemia, Abnormal macrophage morphology, Cardiomyopathy, Leukocytosis, Hypotension, L...	ORPHA:292
Thyroid Ectopia	Elevated circulating thyroid-stimulating hormone concentration, Jaundice, Short stature, Growth d...	ORPHA:95712
Immunodeficiency 91 And Hyperinflammation	Hemophagocytosis, Neutrophilia, Thrombocytopenia, Hepatosplenomegaly, Pulmonary hemorrhage, Monoc...	OMIM:619644
Drug-Induced Autoimmune Hemolytic Anemia	Pallor	ORPHA:90037
Neuroocular Syndrome	Retrognathia, Highly arched eyebrow, Stellate iris, Prominent fingertip pads, Pectus excavatum, U...	OMIM:619539
Alkaptonuria	Reduced bone mineral density, Intervertebral disk calcification, Hypertension, Thickened Achilles...	ORPHA:56
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Lymphedema	OMIM:152950
Joubert Syndrome 4	Abnormal renal medulla morphology, Molar tooth sign on MRI, Nephronophthisis, Elongated superior ...	OMIM:609583
Tufted Angioma	Thrombocytopenia, Anemia	ORPHA:1063
Cerebrooculofacioskeletal Syndrome 2	Intrauterine growth retardation, Microphthalmia	OMIM:610756
Microcephalic Primordial Dwarfism, Dauber Type	Abnormal carpal morphology, Subglottic stenosis, Clinodactyly of the 5th finger, Madelung deformi...	ORPHA:319675
Keutel Syndrome	Hypertension, Pulmonic stenosis, Shortening of all distal phalanges of the fingers, Sinusitis, Sh...	OMIM:245150
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pallor	OMIM:600462
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Spider hemangioma, Adenocarcinoma of the...	ORPHA:171
Hypothyroidism, Congenital, Nongoitrous, 2	Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Bradycardia, Th...	OMIM:218700
Thrombocytopenia 6	Spontaneous, recurrent epistaxis, Thrombocytopenia	OMIM:616937
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Rhizomelia, Platyspondyly, Vertebral compression fracture, Narrow chest, Angulated hu...	OMIM:616229
Pmm2-Cdg	Kyphoscoliosis, Retrognathia, Elevated circulating hepatic transaminase concentration, Abnormal p...	ORPHA:79318
Microphthalmia, Syndromic 6	Retrognathia, Inferior cerebellar vermis hypoplasia, Female hypogonadism, Bifid uvula, Ventriculo...	OMIM:607932
Thrombocytopenia 1	Decreased mean platelet volume, Joint hemorrhage, Epistaxis, Intermittent thrombocytopenia, Conge...	OMIM:313900
Intellectual Developmental Disorder, Autosomal Dominant 58	Inguinal hernia, Facial hypotonia, Dental crowding, Single transverse palmar crease, High palate,...	OMIM:618106
Waldenström Macroglobulinemia	Purpura, Pleural effusion, Periorbital edema, Pallor, Pedal edema	ORPHA:33226
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, Sc...	ORPHA:562639
Intellectual Developmental Disorder, Autosomal Dominant 29	Sandal gap, Dental crowding, Hyperlordosis, Long philtrum, Narrow palate, Astigmatism, Hirsutism,...	OMIM:616078
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Patent foramen ovale, Abnormal heart morphology, Umbilical hernia, Vent...	ORPHA:369891
Shwachman-Diamond Syndrome 2	Steatorrhea, Hyperechogenic pancreas, Hepatomegaly, Normocytic anemia, Subglottic stenosis, High ...	OMIM:617941
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele, Bilateral cleft palate, Non-midline cleft of the upper lip, Sparse scalp hair, Depre...	ORPHA:2003
Mckusick-Kaufman Syndrome	Aganglionic megacolon, Tarsal synostosis, Abnormal metacarpal morphology, Postaxial hand polydact...	ORPHA:2473
Drug-Induced Lupus Erythematosus	Prolonged QTc interval, Pericarditis, Thrombocytopenia, Anemia	ORPHA:231111
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Alopecia of scalp, Hypospadias, Bilateral cleft palate, Bifid nasal tip, High palate, Pectus exca...	OMIM:618874
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Premature pubarche, Increased circulating dehydroepiandrosterone-sulfate concentration, Elevated ...	OMIM:201810
Campomelic Dysplasia	Tracheobronchomalacia, Femoral bowing, Tibial bowing, Short long bone, Kyphosis, Ventriculomegaly...	ORPHA:140
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Thrombocytopenia, Hypertension, Anemia, Microangiopathic hemolytic anemia	OMIM:612925
Mitochondrial Complex I Deficiency, Nuclear Type 20	Congestive heart failure, Dilated cardiomyopathy, Thrombocytopenia, Hypertrophic cardiomyopathy	OMIM:611126
Duodenal Atresia	Annular pancreas, Polyhydramnios, Abnormality of the pulmonary artery, Abnormality of the pancrea...	ORPHA:1203
Bresek Syndrome	Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia	ORPHA:85284
Cold Agglutinin Disease	Pallor	ORPHA:56425
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Narrow chest, Sensorineural hearing impairment, Femoral bowing, Glossoptosis, Dumbbel...	ORPHA:440354
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Single umbilical artery, Polyhydramnios, Abnormal tricuspid valve morphology, Anemia, Hydrops fet...	ORPHA:3405
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Abnormal brainstem morphology, Ventriculomegaly, Abnormal cerebellum morphology, Agenesis of corp...	ORPHA:255182
Reticular Dysgenesis	Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia	OMIM:267500
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Kyphoscoliosis, Gastrointestinal hemorrhage, Increased ratio of deoxypyridinoline to pyridinoline...	OMIM:225400
Atrioventricular Septal Defect, Susceptibility To, 2	Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at...	OMIM:606217
Icf Syndrome	Abnormality of neutrophils, Anemia, Low-set ears, Lymphopenia, Protruding tongue, Short stature, ...	ORPHA:2268
Orofaciodigital Syndrome Iv	Short finger, Short tibia, Low-set ears, High palate, Pectus excavatum, Short stature, Foot polyd...	OMIM:258860
Meester-Loeys Syndrome	Pulmonary artery aneurysm, Broad distal phalanx of finger, Abnormal sternum morphology, Arachnoda...	OMIM:300989
Refsum Disease	Microphthalmia, Cardiomyopathy, Dry skin	ORPHA:773
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	ORPHA:158029
Cerebrooculonasal Syndrome	Optic nerve hypoplasia, Encephalocele, Anophthalmia	OMIM:605627
Hereditary Acrokeratotic Poikiloderma	Nail dystrophy, Abnormal hip bone morphology, Joint hypermobility, Abnormality of the urethra, Ab...	ORPHA:2907
Aneurysm-Osteoarthritis Syndrome	Retrognathia, Arterial tortuosity, Spondylolisthesis, Pectus carinatum, Pectus excavatum, Arteria...	ORPHA:284984
Non-Functioning Pituitary Adenoma	Vertigo, Anemia of inadequate production, Female hypogonadism, Hypogonadism, Central adrenal insu...	ORPHA:91349
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hematuria, Lymphadenopathy, Hypertension, Elevated circulating alanine aminotransfe...	OMIM:614034
Anterior Segment Dysgenesis 5	Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris	OMIM:604229
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Splenomega...	ORPHA:100026
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Wide nose, Hamartoma of the orbital region, Severe postnatal grow...	ORPHA:2399
Holoprosencephaly, Semilobar, With Craniosynostosis	Semilobar holoprosencephaly, Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplastic v...	OMIM:601370
Cushing Disease	Decreased eosinophil count, Increased urinary cortisol level, Hypertension, Leukocytosis, Capilla...	ORPHA:96253
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Thrombocytopenia, Epistaxis, Impaired ADP-induced platelet aggreg...	OMIM:614074
Lipodystrophy, Familial Partial, Type 7	Narrow nasal ridge, Hypertension, Dysphagia, Sparse hair, Recurrent pancreatitis, Type I diabetes...	OMIM:606721
Ehlers-Danlos Syndrome, Vascular Type	Hypermobility of distal interphalangeal joints, Repeated pneumothoraces, Narrow nasal ridge, Pect...	OMIM:130050
Tetraamelia Syndrome 2	Bilateral lung agenesis, Hypoplastic pulmonary veins, Glossoptosis, Low-set ears, Absent nipple, ...	OMIM:618021
Axenfeld-Rieger Syndrome	Abnormal anterior chamber morphology, Anal stenosis, Hypospadias, Everted lower lip vermilion, Mi...	ORPHA:782
Autosomal Recessive Distal Osteolysis Syndrome	Abnormality of the dentition, Short stature, Hypoplasia of the maxilla, Broad nasal tip, Short di...	ORPHA:2776
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Ciliary Dyskinesia, Primary, 1	Chronic otitis media, Situs inversus totalis, Atelectasis, Absent frontal sinuses, Recurrent bron...	OMIM:244400
Holoprosencephaly 1	Cyclopia, Proboscis, Diabetes insipidus, Alobar holoprosencephaly, Adrenal hypoplasia, Median cle...	OMIM:236100
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Thyroid C cell hyperplasia, Cardiac arrest, Ventricular fibrillation...	OMIM:300952
3-Hydroxy-3-Methylglutaric Aciduria	Edema, Pallor, Dilated cardiomyopathy, Dehydration	ORPHA:20
Myoclonic-Astatic Epilepsy	Microphthalmia, Premature skin wrinkling	ORPHA:1942
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Enlarged kidney, Mesocardia, Coronary sinus enlargement, Intesti...	OMIM:618280
Familial Exudative Vitreoretinopathy	Microphthalmia, Macular edema, Lymphedema	ORPHA:891
Spinocerebellar Ataxia Type 1	Optic atrophy, Abnormal nerve conduction velocity, Abnormality of masticatory muscle, Abnormal br...	ORPHA:98755
Mixed-Type Autoimmune Hemolytic Anemia	Pallor	ORPHA:90036
Hyperlysinemia	Hypoplastic helices, Argininuria, Gastroesophageal reflux, Decreased urine alpha-ketoglutarate co...	ORPHA:2203
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Pituicytoma	Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo...	ORPHA:251623
Primary Sjögren Syndrome	Normochromic anemia, Optic neuritis, Bronchitis, Biliary cirrhosis, Abnormal spinal cord morpholo...	ORPHA:289390
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Biliary cirrhosis, Leukopenia, Type I diabetes mellitus, Aplasia/Hypoplasia of...	ORPHA:227982
Aregenerative Anemia	Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni...	ORPHA:101096
Hypoglossia-Hypodactyly Syndrome	Gastroschisis, Aplasia/Hypoplasia of fingers, Abnormal cranial nerve morphology, Finger syndactyl...	ORPHA:989
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Kyphoscoliosis, Mixed hearing impairment, Decreased fetal movement, Umbilical hernia, Myopathy, I...	OMIM:614557
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the max...	ORPHA:397973
Acute Promyelocytic Leukemia	Anemia, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Epistaxis, Diffuse alveolar hem...	ORPHA:520
Myelofibrosis	Purpura, Pallor	OMIM:254450
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Brachyolmia Type 2	Short stature, Platyspondyly	OMIM:613678
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Short nose, Anteverted nares, Low-set ears, Protruding tongue, Short stature, Bronchiectasis, T l...	OMIM:242860
Ciliary Dyskinesia, Primary, 20	Situs inversus totalis, Recurrent otitis media, Atelectasis, Dextrocardia, Pulmonary arterial hyp...	OMIM:615067
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Pancytopenia, Decreased proportion of class-switched memory B cells,...	OMIM:614700
Beta-Thalassemia Intermedia	Decreased liver function, Reduced bone mineral density, Proximal tubulopathy, Anemia of inadequat...	ORPHA:231222
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Increased mean platelet volume, Ventricular arrhythmia, Thrombocytopenia	OMIM:620475
Meier-Gorlin Syndrome 5	Small earlobe, Microtia, Delayed skeletal maturation, Irregular femoral epiphysis, Long philtrum,...	OMIM:613805
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Thrombotic Thrombocytopenic Purpura, Hereditary	Transient ischemic attack, Reticulocytosis, Thrombocytopenia, Microangiopathic hemolytic anemia, ...	OMIM:274150
Osteogenesis Imperfecta, Type Xxiii	Osteopenia, Genu valgum, Reduced bone mineral density, Torticollis, Broad femoral head, Short sta...	OMIM:620639
Geleophysic Dysplasia 3	Limited elbow movement, Pneumonia, Hepatomegaly, Subglottic stenosis, Polyhydramnios, Anteverted ...	OMIM:617809
Angelman Syndrome	Optic atrophy, Widely spaced teeth, Astigmatism, Precocious puberty in females, Abnormality of th...	ORPHA:72
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Pfeiffer Syndrome	Short nose, 3-4 toe cutaneous syndactyly, Shortening of all middle phalanges of the fingers, Dent...	OMIM:101600
Heterotaxy, Visceral, 4, Autosomal	Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia, Right aortic ar...	OMIM:613751
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Neoplasm of the thyroid gland, Congestive heart failure, Reduced bone mineral density, Arterioven...	ORPHA:137608
Smith-Mccort Dysplasia 1	Short metacarpal, Kyphosis, Iliac crest serration, Hypoplastic facial bones, Metaphyseal irregula...	OMIM:607326
Geroderma Osteodysplasticum	Kyphoscoliosis, Tibial bowing, Femoral bowing, Biconcave vertebral bodies, Severe short stature, ...	OMIM:231070
Acyl-Coa Dehydrogenase 9 Deficiency	Congestive heart failure, Cerebellar hemorrhage, Hypertrophic cardiomyopathy, Thrombocytopenia, D...	ORPHA:99901
Sepsis In Premature Infants	Petechiae, Purpura, Edema, Pallor	ORPHA:90051
Pseudo-Torch Syndrome 3	Anemia, Hypertension, Leukocytosis, Cerebral hemorrhage, Congenital thrombocytopenia	OMIM:618886
Enlarged Parietal Foramina	Occipital encephalocele, Venous malformation, Short clavicles, Myelomeningocele, Broad thumb, Cle...	ORPHA:60015
Familial Osteodysplasia, Anderson Type	Aplasia/hypoplasia of the femur, Long nose, Abnormal earlobe morphology, Abnormal form of the ver...	ORPHA:2769
Chromosome 17Q12 Duplication Syndrome	Atrial septal defect, Microphthalmia	OMIM:614526
Amyotrophic Lateral Sclerosis 27, Juvenile	Tongue fasciculations, Scoliosis, Hyperlordosis, Scapular winging, Lower limb muscle weakness, In...	OMIM:620285
Seckel Syndrome 2	Clinodactyly of the 5th finger, Ectopic kidney, Hypospadias, Cerebellar calcifications, Microdont...	OMIM:606744
Joubert Syndrome 8	Occipital encephalocele, Molar tooth sign on MRI, Hepatomegaly, Pigmentary retinopathy, Prolonged...	OMIM:612291
Omenn Syndrome	Anemia, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, Thrombocytopenia, ...	OMIM:603554
Heart And Brain Malformation Syndrome	Polyhydramnios, Microphthalmia, Ventricular septal defect	OMIM:616920
Jackson-Weiss Syndrome	Convex nasal ridge, Abnormal palate morphology, Abnormal fibula morphology, Short metatarsal, 2-3...	ORPHA:1540
Meier-Gorlin Syndrome 4	Lateral clavicle hook, Breast hypoplasia, Thick lower lip vermilion, Emphysema, Slender long bone...	OMIM:613804
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis	OMIM:616622
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Thrombocytopenia, Increased CD4:CD8 ratio, B lymphocytopenia	OMIM:618048
Klippel-Feil Syndrome 3, Autosomal Dominant	Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Chorioretinal coloboma, Thoraci...	OMIM:613702
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Cerebrotendinous Xanthomatosis	Tendon xanthomatosis, Myocardial infarction, Cholelithiasis, Delayed somatosensory central conduc...	OMIM:213700
Ulbright-Hodes Syndrome	Abnormal pinna morphology, Short ribs, Severe intrauterine growth retardation, Short metacarpal, ...	ORPHA:3404
Boutonneuse Fever	Vasculitis, Thrombocytopenia, Leukopenia	ORPHA:83313
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Coloboma, Low-set ears, Hypoplasia of the maxilla, Conjunctival h...	OMIM:167730
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Biliary cirrhosis, Leukopenia, Type I diabetes mellitus, Aplasia/Hypoplasia of...	ORPHA:227990
Heterotaxy, Visceral, 7, Autosomal	Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor...	OMIM:616749
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy, Hypopigmentation of hair, Glossitis, Neoplasm of the breast, A...	ORPHA:2221
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Flat acetabular roof, Low posterior hairline, Metaphyseal irregularity, Joint hypermobility, Vent...	OMIM:610442
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Short thorax, Proportionate short stature, Micromelia, Osteoarthritis, Abnormal ep...	ORPHA:93283
Congenital Tracheomalacia	Tracheobronchomalacia, Tracheoesophageal fistula, Abnormal heart morphology, Premature birth, Car...	ORPHA:95430
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Anemia, Abnormal natural killer cell count, Pancytopenia, Inappropriate antidiuretic hormone secr...	ORPHA:79124
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ...	OMIM:616959
Progressive Pseudorheumatoid Dysplasia	Kyphoscoliosis, Sclerotic vertebral endplates, Platyspondyly, Enlarged metacarpophalangeal joints...	OMIM:208230
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	ORPHA:79095
Diffuse Alveolar Hemorrhage	Pulmonary venous hypertension, Thrombocytopenia, Anemia, Leukocytosis	ORPHA:90060
Cardioacrofacial Dysplasia 1	Genu valgum, Atrioventricular canal defect, Short philtrum, Conical tooth, Overhanging nasal tip,...	OMIM:619142
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Necrotizing Enterocolitis	Shock, Bradycardia, Hypotension, Leukocytosis, Thrombocytopenia, Neutropenia	ORPHA:391673
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Delayed puberty, Small pituitary gland, Hyposmia, Sensorineural hearing impairment, High palate, ...	OMIM:612702
Pseudohypoparathyroidism Type 1C	Prolonged QT interval, Short metacarpal, Short 4th metacarpal, Decreased response to growth hormo...	ORPHA:79444
Geroderma Osteodysplastica	Beaking of vertebral bodies, Abnormal bone ossification, Platyspondyly, Vertebral compression fra...	ORPHA:2078
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Retrognathia, Cone-shaped epiphyses of the phalanges of the hand, Sensorineural hearing impairmen...	OMIM:619269
Fanconi Anemia, Complementation Group E	Anemic pallor, Abnormal heart morphology, Microphthalmia	OMIM:600901
Osteogenesis Imperfecta, Type Vii	Breech presentation, Crumpled long bones, Pectus excavatum, Multiple prenatal fractures, Dentinog...	OMIM:610682
Smith-Mccort Dysplasia 2	Pectus carinatum, Hyperlordosis, Flat acetabular roof, Short metacarpal, Broad metatarsal, Promin...	OMIM:615222
Full Nf2-Related Schwannomatosis	Spinal cord tumor, Peripheral schwannoma, Sensorineural hearing impairment, Neoplasm of the skin,...	ORPHA:637
Pseudo-Torch Syndrome 2	Thrombocytopenia, Cerebral hemorrhage, Bradycardia	OMIM:617397
Oculocerebral Hypopigmentation Syndrome, Preus Type	Reduced bone mineral density, Abnormal hip bone morphology, Abnormal brainstem morphology, Hydroc...	ORPHA:2720
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	High anterior hairline, Tracheomalacia, Anteverted nares, Gingival overgrowth, Vesicoureteral ref...	OMIM:618797
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Fetal distress, Hepatomegaly, Fused cervical vertebrae, Stomatitis, Broad ribs, Flari...	OMIM:612852
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Fetal Alcohol Syndrome	Intrauterine growth retardation, Atrial septal defect, Microphthalmia	ORPHA:1915
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal palate morphology, Low-set, posteriorly rotated ears, Slender long bone, Abnormal pelvic...	ORPHA:1506
Cystic Echinococcosis	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Abnormal subp...	ORPHA:400
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Anemia, Portal hypertension, Thrombocytopenia, Leukopenia, Splenomeg...	ORPHA:64743
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Pallor	ORPHA:263455
Orofaciodigital Syndrome Iii	Supernumerary tooth, Low-set ears, Postaxial hand polydactyly, Microdontia, Kyphosis, Pectus exca...	OMIM:258850
Pelvis-Shoulder Dysplasia	Microphthalmia, Spina bifida occulta	OMIM:169550
Triosephosphate Isomerase Deficiency	Congestive heart failure, Normocytic anemia, Jaundice, Chronic hemolytic anemia, Myopathy, Cholel...	OMIM:615512
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Congestive heart failure, Anemia, B lymphocytopenia, Noncompaction cardiomyopathy, Reticulocytope...	ORPHA:508542
X-Linked Intellectual Disability, Porteous Type	Frontal balding, Short philtrum, Mandibular prognathia, Short stature, Macrotia, Hypoplasia of th...	ORPHA:93945
Mandibuloacral Dysplasia Progeroid Syndrome	Nail dystrophy, Elevated circulating hepatic transaminase concentration, Sandal gap, Narrow nasal...	OMIM:619127
Stevenson-Carey Syndrome	Atrial septal defect, Microphthalmia	OMIM:611961
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Joubert Syndrome 21	Occipital encephalocele, Encephalocele, Anophthalmia	OMIM:615636
Cholestasis, Progressive Familial Intrahepatic, 1	Rickets, Osteopenia, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis ...	OMIM:211600
Solar Urticaria	Abnormal tongue morphology, Vertigo, Angioedema, Periorbital edema, Syncope, Abnormal lip morphol...	ORPHA:97230
Multiple Endocrine Neoplasia, Type Iia	Aganglionic megacolon, Elevated urinary vanillylmandelic acid, Pheochromocytoma, Thyroid C cell h...	OMIM:171400
Beemer-Ertbruggen Syndrome	Cryptorchidism, Thrombocytopenia	ORPHA:1237
Anemia, Hypochromic Microcytic, With Iron Overload 2	Pallor	OMIM:615234
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Abnormality of the pulmonary artery, Hearing abnormality, Aniridia	ORPHA:1065
Acrofacial Dysostosis, Rodríguez Type	Aqueductal stenosis, Fibular hypoplasia, Abnormal form of the vertebral bodies, Finger syndactyly...	ORPHA:1788
47,Xyy Syndrome	Congenital stationary night blindness, Finger clinodactyly, Dysgenesis of the cerebellar vermis, ...	ORPHA:8
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Barber-Say Syndrome	Microtia, first degree, Wide mouth, Stenosis of the external auditory canal, Anteverted nares, He...	OMIM:209885
Baraitser-Winter Syndrome 1	Aortic valve stenosis, Bicuspid aortic valve, Microphthalmia	OMIM:243310
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent...	OMIM:612576
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Short ribs, Postaxial hand polydactyly, Ventricular septal defect, A...	ORPHA:2519
Polymicrogyria Due To Tubb2B Mutation	Abnormal brainstem morphology, Cerebellar atrophy, Hypoplasia of the pons, Lateral ventricle dila...	ORPHA:300573
Capillary Malformation-Arteriovenous Malformation	Congestive heart failure, Abnormality of the musculature of the limbs, Arteriovenous malformation...	ORPHA:137667
Acute Radiation Syndrome	Hypotension, Thrombocytopenia, Lymphopenia, Granulocytopenia, Telangiectasia	ORPHA:454831
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Postnatal growth retardation, Irregular epiphyses, Hip osteoarthritis, Platyspondyly, Barrel-shap...	OMIM:313400
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Abnormal heart morphology, Ventricular septal defect	ORPHA:404440
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Carpal bone hypoplasia, Multiple joint dislocation, Platyspondyly, Disloc...	OMIM:618395
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Intrauterine growth retardation, Microphthalmia, Abnormal cardiac septum morphology	ORPHA:1352
Fanconi Anemia, Complementation Group A	Anemic pallor, Abnormal heart morphology, Microphthalmia	OMIM:227650
Deafness-Craniofacial Syndrome	Abnormal palate morphology, Short philtrum, Sensorineural hearing impairment, Short lingual frenu...	ORPHA:3241
Holoprosencephaly 4	Semilobar holoprosencephaly, Median cleft palate, Depressed nasal tip, Absent nasal septal cartil...	OMIM:142946
Joubert Syndrome 31	Ventriculomegaly, Molar tooth sign on MRI	OMIM:617761
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cerebellar hemorrhage, Cardiomyopathy, Thrombocytopenia, Leukopenia, Neutropenia	OMIM:251000
Incontinentia Pigmenti	Pallor, Microphthalmia, Hypoplasia of the fovea, Erythema	OMIM:308300
Fetal Cytomegalovirus Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Retinal hemorrhage	ORPHA:294
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia	OMIM:616577
Joubert Syndrome 25	Cerebellar hypoplasia, Molar tooth sign on MRI	OMIM:616781
Rhizomelic Dysplasia, Ain-Naz Type	Rhizomelia, Wide distal femoral metaphysis, Limitation of joint mobility, Hypoplasia of the femor...	OMIM:619598
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Increased mean platelet volume, Thrombocytopenia	OMIM:300048
Mirizzi Syndrome	Jaundice, Pancreatitis, Elevated circulating hepatic transaminase concentration, Cholelithiasis, ...	ORPHA:521219
Autoinflammatory Disease, Systemic, With Vasculitis	Small vessel vasculitis, Cholestasis, Increased T cell count, Premature birth, Splenomegaly, Card...	OMIM:620376
Tay-Sachs Disease	Pallor	OMIM:272800
Osteopetrosis, Autosomal Recessive 2	Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis	OMIM:259710
Hypophosphatasia	Abnormal metaphysis morphology, Emphysema, Anemia, Narrow chest, Abnormality of the dentition, Bo...	ORPHA:436
Microsporidiosis	Adrenocortical abnormality, Bronchitis, Sinusitis, Biliary tract abnormality, Myocarditis, Cholan...	ORPHA:2552
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hammertoe, Lipoma, Pilomatrixoma, Adenocarcinoma of the colon, Micrognathia, Posteriorly rotated ...	OMIM:620189
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor, Dehydration	OMIM:246450
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:605432
Panhypophysitis	Abnormal thalamic MRI signal intensity, Central diabetes insipidus, Orthostatic hypotension, Redu...	ORPHA:95513
Smooth Muscle Dysfunction Syndrome	Mydriasis, Retinal infarction, Dilatation of the cerebral artery, Vascular dilatation, Common car...	OMIM:613834
Phosphoserine Phosphatase Deficiency	Postnatal growth retardation, Intrauterine growth retardation	OMIM:614023
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Ethmoidal encephalocele, Optic nerve hypoplasia, Bilateral microphthalmos	OMIM:607597
Hereditary Spherocytosis	Pallor, Skin ulcer, Restrictive cardiomyopathy	ORPHA:822
Prolidase Deficiency	Thrombocytopenia, Diffuse telangiectasia, Anemia, Splenomegaly	OMIM:170100
Livedoid Vasculopathy	Ischemic stroke, Abnormal capillary morphology, Anemia, Venous insufficiency, Abnormality of the ...	ORPHA:542643
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Leukopenia, Splenomegaly, Hepatospl...	OMIM:603553
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cardiomyopathy, Thrombocytopenia	OMIM:617710
Overlap Myositis	Hypertension, Pulmonary arterial hypertension, Thrombocytopenia, Leukopenia, Raynaud phenomenon, ...	ORPHA:206572
Fetal And Neonatal Alloimmune Thrombocytopenia	Gastrointestinal hemorrhage, Melena, Neonatal alloimmune thrombocytopenia, Subarachnoid hemorrhag...	ORPHA:853
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp...	ORPHA:2334
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital diaphragmatic hernia, Bilateral lung agenesis, Hypospadias, Low-set ears, Pulmonary ar...	OMIM:611812
Spondyloepimetaphyseal Dysplasia, Missouri Type	Limited elbow extension, Rhizomelia, Platyspondyly, Small epiphyses, Ulnar bowing, Metaphyseal cu...	OMIM:602111
Phosphoribosylpyrophosphate Synthetase Superactivity	Sensorineural hearing impairment, Hypertension, Cardiomyopathy, Abnormal aortic morphology, Arrhy...	ORPHA:3222
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abnormal form of the...	ORPHA:2064
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi...	ORPHA:331206
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Flattened metacarpal heads, Hip osteoarthritis, Flattened metatarsal heads, Short stature, Osteoa...	OMIM:271600
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Leukopenia, Splenomegaly	OMIM:267700
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal form of the vertebral bodies, Hypoplasia of penis, Hemivertebrae, Abnormal rib morpholog...	ORPHA:2234
Grfoma	Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pheochromocytoma, ...	ORPHA:97261
Fanconi Anemia, Complementation Group C	Intrauterine growth retardation, Anemic pallor, Ventricular septal defect, Microphthalmia	OMIM:227645
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Neutropenia	ORPHA:540
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Igg4-Related Pachymeningitis	Pancreatitis, Abnormality of cervical plexus, Parotitis, Cranial nerve paralysis, Lymphadenitis, ...	ORPHA:449427
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Cerebellar cyst, Unilateral renal agenesis, Ectopic kidney, Abnormality of the vertebral column, ...	OMIM:601076
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Hypoplasia of the radius, Syringomyelia, Macular dystrophy, Clinodactyly of the 5th finger, Ectop...	ORPHA:140952
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly, Portal hypertension	OMIM:620367
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Gastrointestinal hemorrhage, Anemia, Macrocytic anemia, Pancytopenia, Leukopenia...	OMIM:613990
Dyskeratosis Congenita, Autosomal Dominant 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Leukopenia, Dilated cardiomyopathy, Neutropenia	OMIM:613989
Congenital Primary Aphakia	Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita...	ORPHA:83461
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia,...	ORPHA:158048
Thauvin-Robinet-Faivre Syndrome	Inguinal hernia, Sensorineural hearing impairment, Coloboma, Ventricular septal defect, Renal cys...	OMIM:617107
Lennox-Gastaut Syndrome	Abnormal brainstem morphology, Vertigo	ORPHA:2382
Right Pulmonary Artery, Anomalous Origin Of, Familial	Anomalous origin of right pulmonary artery from ascending aorta, Patent foramen ovale, Coarctatio...	OMIM:610338
Melkersson-Rosenthal Syndrome	Cheilitis, Lymphadenopathy, Facial palsy, Furrowed tongue, Cranial nerve paralysis, Abnormal auto...	ORPHA:2483
Cushing Syndrome Due To Ectopic Acth Secretion	Pheochromocytoma, Hypertension, Adrenal hyperplasia, Pulmonary carcinoid tumor, Lymphopenia, Medu...	ORPHA:99889
Metachromatic Leukodystrophy	Limb pain, Decreased nerve conduction velocity, Neoplasm of the gallbladder, Urinary incontinence...	ORPHA:512
Adenohypophysitis	Abnormal thalamic MRI signal intensity, Orthostatic hypotension, Reduced circulating prolactin co...	ORPHA:95512
Heterotaxy, Visceral, 8, Autosomal	Congenitally corrected transposition of the great arteries with ventricular septal defect, Dextro...	OMIM:617205
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Palpitations, Biliary trac...	ORPHA:100085
Felty Syndrome	Anemia, Abnormal lymphocyte morphology, Pericarditis, Thrombocytopenia, Splenomegaly, Neutropenia	ORPHA:47612
Bruck Syndrome 2	Osteopenia, Platyspondyly, Inguinal hernia, Pterygium, Pectus carinatum, Femoral bowing, Elbow fl...	OMIM:609220
Sheehan Syndrome	Normochromic anemia, Bradycardia, Sensorineural hearing impairment, Vertigo, Decreased circulatin...	ORPHA:91355
Congenital Fibrinogen Deficiency	Microphthalmia, Right ventricular hypertrophy, Left ventricular hypertrophy	ORPHA:335
Prolactinoma	Delayed puberty, Vertigo, Female hypogonadism, Hypogonadism, Central adrenal insufficiency, Abnor...	ORPHA:2965
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Intrauterine growth retardation, Atrial septal defect, Microphthalmia	ORPHA:2728
Frontofacionasal Dysplasia	Microphthalmia, Encephalocele	ORPHA:1791
Aicardi-Goutieres Syndrome 1	Diabetes insipidus, Vasculitis, Cardiomyopathy, Hypothyroidism, Thrombocytopenia, Splenomegaly	OMIM:225750
Hyperthyroidism, Nonautoimmune	Increased circulating T4 concentration, Increased circulating free T3, Decreased thyroid-stimulat...	OMIM:609152
Crimean-Congo Hemorrhagic Fever	Hematemesis, Bradycardia, Hypertension, Inappropriate antidiuretic hormone secretion, Leukopenia,...	ORPHA:99827
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Anemia, Thrombocytopenia, Splenomegaly, Lymphopenia	OMIM:617591
Autoimmune Hemolytic Anemia, Warm Type	Pallor	ORPHA:90033
Microcephaly 20, Primary, Autosomal Recessive	Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cirrhosis, Jaundice, Pancreatitis, Elevated circulating hepatic transa...	ORPHA:65682
Microtia-Anotia	Microtia, Holoprosencephaly, Anotia	OMIM:600674
Blue Rubber Bleb Nevus	Thrombocytopenia, Iron deficiency anemia, Intestinal bleeding	OMIM:112200
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Hemolytic anemia, Neutropenia	OMIM:301110
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Edema, Anemic pallor	ORPHA:329971
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Auriculocondylar Syndrome 3	Retrognathia, Stenosis of the external auditory canal, Bilateral conductive hearing impairment, Q...	OMIM:615706
Chediak-Higashi Syndrome	Anemia, Hemophagocytosis, Spontaneous, recurrent epistaxis, Leukopenia, Splenomegaly, Impaired ne...	OMIM:214500
Griscelli Syndrome	Thrombocytopenia, Abnormality of neutrophils, Leukopenia, Splenomegaly	ORPHA:381
Aorto-Ventricular Tunnel	Congestive heart failure, Aortic root aneurysm, Abnormal heart valve morphology, Ventricular hype...	ORPHA:3400
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Delayed puberty, Anemia, Anal fissure, Corneal erosion, Gastroesophageal reflux, Squamous cell ca...	ORPHA:89842
Osteogenesis Imperfecta, Type Xvii	Kyphoscoliosis, Syringomyelia, Hearing abnormality, Reduced bone mineral density, Thin metacarpal...	OMIM:616507
Shwachman-Diamond Syndrome	Aplastic anemia, Normocytic anemia, Steatorrhea, Anemia, Acute myeloid leukemia, Macrocytic anemi...	ORPHA:811
Léri-Weill Dyschondrosteosis	Abnormal femur morphology, Abnormal hip bone morphology, Disproportionate short-limb short statur...	ORPHA:240
Good Syndrome	Anemia, Abnormal leukocyte morphology, Thrombocytopenia, Thymoma, Aplasia/Hypoplasia of the thymu...	ORPHA:169105
Distal Deletion 19P	Pulmonary valve atresia, Tricuspid valve prolapse, Low-set, posteriorly rotated ears, Short philt...	ORPHA:96129
Marden-Walker Syndrome	Intrauterine growth retardation, Microphthalmia, Dextrocardia	OMIM:248700
Cole-Carpenter Syndrome	Abnormal metaphysis morphology, Crumpled long bones, Delayed eruption of teeth, Abnormal form of ...	ORPHA:2050
Cerebrooculofacioskeletal Syndrome 4	Intrauterine growth retardation, Bilateral microphthalmos, Abnormal heart morphology	OMIM:610758
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Recurrent otitis media, Dextrocardia, Asplenia	OMIM:618948
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Dominant Beta-Thalassemia	Pallor, Skin ulcer, Dilated cardiomyopathy	ORPHA:231226
3P25.3 Microdeletion Syndrome	Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Microphthalmia	ORPHA:435638
Hypothyroidism, Congenital, Nongoitrous, 5	Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Patent foramen ...	OMIM:225250
Letterer-Siwe Disease	Thrombocytopenia, Anemia, Hepatosplenomegaly, Neutropenia	OMIM:246400
Whim Syndrome	Severe periodontitis, Atelectasis, Sinusitis, Parotitis, Lymphopenia, Lymphadenitis, Abnormal neu...	ORPHA:51636
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Bazex-Dupre-Christol Syndrome	Trichorrhexis nodosa, Coarse hair, Basal cell carcinoma, Low hanging columella, Trichoepithelioma...	OMIM:301845
Developmental And Epileptic Encephalopathy 100	Microdontia, Dysphagia, Decreased fetal movement, Ventriculomegaly, Scoliosis, Elbow flexion cont...	OMIM:619777
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Lateral clavicle hook, Preaxial polydactyly, Polyhydramnios, Narrow chest, Femoral bowing, Short ...	OMIM:615503
Ciliary Dyskinesia, Primary, 52	Situs inversus totalis, Transposition of the great arteries, Recurrent otitis media, Recurrent lo...	OMIM:620570
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Intrauterine growth retardation, Pallor	OMIM:301310
Camptodactyly Syndrome, Guadalajara Type 3	Retrognathia, Wide nasal base, Abnormal pinna morphology, Broad femoral neck, Delayed skeletal ma...	ORPHA:488434
Hereditary Folate Malabsorption	Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Pancytopenia	ORPHA:90045
Senior-Loken Syndrome 8	Pallor	OMIM:616307
Immunodeficiency 22	Anemia, Capillary leak, Pericarditis, Decreased proportion of CD4-positive helper T cells, Thromb...	OMIM:615758
Hereditary Pheochromocytoma-Paraganglioma	Pallor, Aniridia	ORPHA:29072
Bone Marrow Failure Syndrome 3	Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Pancytopenia, Increased...	OMIM:617052
Melanocytic Nevus Syndrome, Congenital	Short nose, Narrow nasal ridge, Anteverted nares, Everted lower lip vermilion, Broad nasal tip, O...	OMIM:137550
Elliptocytosis 1	Pallor	OMIM:611804
Hypothyroidism, Congenital, Nongoitrous, 1	Elevated circulating thyroid-stimulating hormone concentration, Goiter, Hypothyroidism, Thyroid h...	OMIM:275200
Kapur-Toriello Syndrome	Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect, Microphthalmia	OMIM:244300
Alport Syndrome	Recurrent corneal erosions, Renal glomerular foam cells, Tubulointerstitial fibrosis, Sensorineur...	ORPHA:63
Infantile Liver Failure Syndrome 3	Beaking of vertebral bodies, Jaundice, Elevated circulating hepatic transaminase concentration, H...	OMIM:618641
Encephalocraniocutaneous Lipomatosis	Microphthalmia, Hypoplasia of the iris, Atrial septal defect, Ventricular septal defect, Subvalvu...	OMIM:613001
Temtamy Syndrome	Microphthalmia	OMIM:218340
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Pituitary hypothyroidism, Thyroid hypoplasia, Growth...	ORPHA:99832
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Nail dystrophy, Protein-losing enteropathy, Anemia, Clubbing of fingers, Glossitis, Clubbing, Ham...	OMIM:175500
Osteopetrosis, Autosomal Dominant 2	Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Facial palsy...	OMIM:166600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Skin ulcer	ORPHA:1806
Ivic Syndrome	Thrombocytopenia, Leukocytosis, Arrhythmia	ORPHA:2307
Tafro Syndrome	Anemia, Leukocytosis, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Elevated vascular endot...	ORPHA:457077
Foix-Alajouanine Syndrome	Distal lower limb muscle weakness, Hyperintensity of MRI T2 signal of the spinal cord, Cervical m...	ORPHA:79093
Pearson Marrow-Pancreas Syndrome	Steatorrhea, Refractory sideroblastic anemia, Anemia, Pancytopenia, Reticulocytopenia, Sideroblas...	OMIM:557000
Plummer-Vinson Syndrome	Pallor	ORPHA:54028
Spondyloepiphyseal Dysplasia, Maroteaux Type	Kyphoscoliosis, Genu valgum, Pectus carinatum, Short stature, Short palm, Atlantoaxial instabilit...	OMIM:184095
Thyroid Hypoplasia	Jaundice, Thyroid hypoplasia, Growth delay, Short stature, Hypothyroidism, Macroglossia	ORPHA:95720
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Delayed puberty, Congestive heart failure, Abnormality of the endocr...	ORPHA:391487
Immunodeficiency 9	Amelogenesis imperfecta, Recurrent aphthous stomatitis, Abnormal natural killer cell count, Stoma...	OMIM:612782
Familial Cerebral Saccular Aneurysm	Abnormal brainstem morphology, Aortic root aneurysm, Hypertension, Transient ischemic attack, Aor...	ORPHA:231160
Anterior Segment Dysgenesis 2	Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia	OMIM:610256
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic kidney, Unilateral renal agenesis, Abnormal form of the vertebral bodies, Vertebral segme...	ORPHA:3109
Hereditary Hemorrhagic Telangiectasia	Tongue telangiectasia, Gastrointestinal hemorrhage, Intestinal polyposis, Arteriovenous malformat...	ORPHA:774
Split-Hand/Foot Malformation 6	Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly	OMIM:225300
Alpha-Thalassemia	Reticulocytosis, Myelodysplasia, Splenomegaly, Abnormal hemoglobin, Hypersplenism, Jaundice, Hydr...	ORPHA:846
Smith-Kingsmore Syndrome	Cryptorchidism, Thrombocytopenia	OMIM:616638
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Clinodactyly of the 5th finger, Highly arched eyebrow, Anteverted nares, Abnormal pinna morpholog...	ORPHA:228396
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Melena, Thrombocytopenia, Leukopenia, Lymphopenia	ORPHA:319218
Hereditary Mucoepithelial Dysplasia	Hematuria, Anorectal anomaly, Gingival overgrowth, Corneal dystrophy, Furrowed tongue, Tracheoeso...	ORPHA:1839
Trichothiodystrophy 3, Photosensitive	Intrauterine growth retardation, Microphthalmia	OMIM:616395
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Gcgr-Related Hyperglucagonemia	Glucagonoma, Neoplasm of the pancreas, Abnormal biliary tract morphology, Cholelithiasis, Increas...	ORPHA:438274
Hemihyperplasia-Multiple Lipomatosis Syndrome	Macrodactyly, Enlarged kidney, Microtia, Scoliosis, Abnormality of the lymphatic system, Foot pol...	ORPHA:276280
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Webbed neck, Pectus excavatum, Abnormal rib morphology, Hypoplastic distal segments of scapulae, ...	OMIM:602196
Saethre-Chotzen Syndrome	Long nose, Microtia, Prominent crus of helix, Abnormal heart morphology, Partial duplication of t...	OMIM:101400
Congenital Dyserythropoietic Anemia Type Iii	Pallor	ORPHA:98870
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormality of the hand, Aplasia/hypoplasia inv...	ORPHA:75508
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Methylmalonic Aciduria, Cblb Type	Anemia, Pancytopenia, Thrombocytopenia, Dilated cardiomyopathy, Neutropenia	OMIM:251110
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Delayed puberty, Absence of secondary sex characteristics, Small pituitary gland, Kyphosis, Abnor...	ORPHA:2232
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Stomatitis, Glossitis, Reduced number of intrahepatic bile ducts, Mega...	ORPHA:79284
Mesomelic Dysplasia, Kantaputra Type	Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Cubitus valgus, Du...	ORPHA:1836
Alternating Hemiplegia Of Childhood	Pallor, Cardiomyopathy, Dehydration	ORPHA:2131
Spondylometaphyseal Dysplasia, Pagnamenta Type	Short 4th metacarpal, Rhizomelia, Platyspondyly, Femoral bowing, Thoracic kyphosis, Broad thumb, ...	OMIM:619638
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Reduced bone mineral density, Hepatomegaly, Gastrointestinal hemorrhage, Bon...	ORPHA:1414
Peutz-Jeghers Syndrome	Rectal prolapse, Neoplasm of the pancreas, Oral melanotic macule, Iron deficiency anemia, Gastroi...	OMIM:175200
Myopathy, Mitochondrial, And Ataxia	Pallor	OMIM:617675
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Scoliosis, Thin ribs, Hypoplasia of the pons, Short stature, Joint hypermobility, ...	OMIM:615220
Radio-Renal Syndrome	Convex nasal ridge, Hypoplasia of the radius, High, narrow palate, Retrognathia, Abnormal form of...	ORPHA:3015
Mucopolysaccharidosis-Plus Syndrome	Congestive heart failure, Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia, Leukopenia, Sple...	OMIM:617303
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Anemia, Neutropenia	OMIM:614520
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Mixed hearing impairment, Scoliosis, Femoral bowing, Osteoporosis, Carious teeth, Sev...	OMIM:126550
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,...	OMIM:601438
Granulomatosis With Polyangiitis	Chronic otitis media, Subglottic stenosis, Pleuritis, Oral ulcer, Localized pulmonary hemorrhage,...	OMIM:608710
Fructose-1,6-Bisphosphatase Deficiency	Pallor	ORPHA:348
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Platyspondyly, Narrow chest, Short metacarpal, Rhizomelic arm shortening, Abnormal r...	ORPHA:93317
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Increased mean corpuscular volume, Budd-Chiari syndrome, Leukopenia, Thr...	OMIM:127550
Frontonasal Dysplasia 2	Intrauterine growth retardation, Microphthalmia, Oligohydramnios, Encephalocele	OMIM:613451
Noonan Syndrome 4	Pulmonic stenosis, Cryptorchidism, Thrombocytopenia, Hypertrophic cardiomyopathy	OMIM:610733
Shwachman-Diamond Syndrome 1	Steatorrhea, Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocy...	OMIM:260400
Spastic Paraplegia 16, X-Linked	Urinary incontinence, Facial hypotonia, Lower limb amyotrophy, Urinary bladder sphincter dysfunct...	OMIM:300266
Ritscher-Schinzel Syndrome 3	Microphthalmia, Atrioventricular canal defect	OMIM:619135
Lujo Hemorrhagic Fever	Myocarditis, Bradycardia, Leukocytosis, Hypotension, Thrombocytopenia, Leukopenia, Subconjunctiva...	ORPHA:319213
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Avian Influenza	Congestive heart failure, Thrombocytopenia, Leukopenia, Lymphopenia	ORPHA:454836
Rodrigues Blindness	Microphthalmia	OMIM:268320
Neuroleptic Malignant Syndrome	Pulmonary embolism, Bradycardia, Hypertension, Leukocytosis, Hypertensive crisis, Hypotension, Th...	ORPHA:94093
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematemesis, Gastrointestinal hemorrhage, Muscle hemorrhage, Melena, Retinal hemorrhage, Hypertro...	ORPHA:464321
Mucoepithelial Dysplasia, Hereditary	Coarse hair, Corneal neovascularization, Pneumonia, Hematuria, Melena, Nail dystrophy, Keratoconj...	OMIM:158310
Clapo Syndrome	Macrodactyly, Venous malformation, Narrow chest, Capillary hemangioma, Lymphedema, Pectus excavat...	ORPHA:168984
Congenital Disorder Of Glycosylation, Type Iil	Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:614576
Caroli Disease	Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Conjunctival icterus,...	ORPHA:53035
Lipoid Proteinosis	Alopecia of scalp, Thick lower lip vermilion, High palate, Nasal polyposis, Abnormality of the gi...	ORPHA:530
Osteogenesis Imperfecta, Type Viii	Disproportionate short-limb short stature, Tibial bowing, Femoral bowing, Short metacarpal, Kypho...	OMIM:610915
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor	ORPHA:276621
Deafness, Autosomal Dominant 80	Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con...	OMIM:619274
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Abnormal heart morphology	OMIM:618571
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Ectopic kidney, Vertebral segmentation defect, Abnormal rib morphology, Low posterior hairline, H...	ORPHA:2578
Bruck Syndrome	Platyspondyly, Pterygium, Scoliosis, Bowing of the long bones, Osteoporosis, Kyphosis, Short stat...	ORPHA:2771
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Anemia, Abnormal spleen morphology, Thrombocytopenia, Splenomegaly, Hepatosp...	ORPHA:464329
Ppoma	Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Ascites, Pituitary...	ORPHA:97278
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue fasciculations, Amyotrophic lateral sclerosis, Dysphagia, Tongue atrophy	OMIM:613435
Bernard-Soulier Syndrome	Hematemesis, Gastrointestinal hemorrhage, Giant platelets, Spontaneous, recurrent epistaxis, Decr...	ORPHA:274
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Hematemesis, Gastrointestinal hemorrhage, Nail bed telangiectasia, Dilatat...	OMIM:187300
Braddock-Carey Syndrome 1	Thrombocytopenia	OMIM:619980
Familial Bicuspid Aortic Valve	Aortic regurgitation, Abnormal left ventricular outflow tract morphology, Hypertension, Aortic ar...	ORPHA:402075
Autosomal Dominant Popliteal Pterygium Syndrome	Popliteal pterygium, Finger syndactyly, Non-midline cleft of the upper lip, Scoliosis, Split hand...	ORPHA:1300
Aortic Valve Disease 1	Bicuspid aortic valve, Aortic valve calcification, Aortic valve stenosis, Mitral stenosis, Tetral...	OMIM:109730
Beta-Thalassemia Major	Pallor, Skin ulcer, Dilated cardiomyopathy	ORPHA:231214
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis, Recurrent tonsillitis, Dehydration, Hypovolemic shock, Glucocortocoid-insensitive...	ORPHA:171876
Hellp Syndrome	Decreased mean corpuscular hemoglobin concentration, Hypotension, Internal hemorrhage, Thrombocyt...	ORPHA:244242
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Thyrotoxicosis with diffuse goiter, Accelerated skeletal maturation, Hyperthyroidism, Goiter, Act...	ORPHA:424
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla...	OMIM:228930
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Ventricular septal defect	OMIM:234050
Pediatric Systemic Lupus Erythematosus	Lymphopenia, Thrombocytopenia, Leukopenia, Raynaud phenomenon, Microangiopathic hemolytic anemia	ORPHA:93552
Milroy Disease	Ankle swelling, Angiosarcoma, Predominantly lower limb lymphedema, Neoplasm of the skin, Lymphede...	ORPHA:79452
Cimdag Syndrome	Pontocerebellar atrophy, Hepatomegaly, Cholelithiasis, Retinal dystrophy, Cerebellar vermis hypop...	OMIM:619273
Idiopathic Hypereosinophilic Syndrome	Myocardial eosinophilic infiltration, Pleural effusion, Angioedema, Joint swelling, Pallor, Dilat...	ORPHA:3260
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Kyphoscoliosis, Barrel-shaped chest, Childhood-onset short-trunk short stature, Arthritis, Knee p...	OMIM:184100
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Macrodactyly, Venous malformation, Webbed neck, Sandal gap, Lipoma, Scoliosis, Tethered cord, Ren...	OMIM:612918
Congenital Bile Acid Synthesis Defect Type 2	Postnatal growth retardation, Rickets, Steatorrhea, Jaundice, Elevated circulating hepatic transa...	ORPHA:79303
Infection-Related Hemolytic Uremic Syndrome	Myocarditis, Pleural empyema, Generalized edema, Edema, Pallor	ORPHA:544482
Lowry-Wood Syndrome	Abnormality of nail color, Astigmatism, Irregular epiphyses, Platyspondyly, Dislocated radial hea...	ORPHA:1824
Bacterial Toxic-Shock Syndrome	Myocarditis, Capillary leak, Increased circulating myelocyte count, Hypotension, Thrombocytopenia...	ORPHA:36234
Vexas Syndrome	Arteritis, Thrombocytopenia, Macrocytic anemia	OMIM:301054
Primary Biliary Cholangitis	Gastrointestinal inflammation, Steatorrhea, Jaundice, Cirrhosis, Orthostatic hypotension, Abnorma...	ORPHA:186
X-Linked Acrogigantism	Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased...	ORPHA:300373
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia, Dilated cardiomyopathy, Cryptorchidism, Mitr...	ORPHA:261250
Alg8-Cdg	Thrombocytopenia, Anemia	ORPHA:79325
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Hepatosplenomegaly, Sp...	OMIM:608233
Singleton-Merten Syndrome 1	Aortic arch calcification, Eruption failure, Short dental root, Expanded phalanges with widened m...	OMIM:182250
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Retrognathia, Radial deviat...	OMIM:227270
Alport Syndrome 1, X-Linked	Hypertension, Hypoparathyroidism, Thrombocytopenia	OMIM:301050
Neurotrophic Keratopathy	Recurrent corneal erosions, Astigmatism, Corneal ulceration, Corneal stromal edema, Corneal scarr...	ORPHA:137596
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancyto...	ORPHA:167
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Chromosome 13Q33-Q34 Deletion Syndrome	Microphthalmia, Anencephaly, Encephalocele, Pulmonic stenosis, Left ventricular hypertrophy	OMIM:619148
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphocytosis, Vasculitis, Decreased mean platelet volume, Vasculitis in the skin, Thrombocytopen...	OMIM:617718
Osteogenesis Imperfecta, Type Xxi	Platyspondyly, Bell-shaped thorax, Disproportionate short-limb short stature, Barrel-shaped chest...	OMIM:619131
Chronic Visceral Acid Sphingomyelinase Deficiency	Delayed puberty, Decreased liver function, Delayed skeletal maturation, Splenomegaly, Pathologic ...	ORPHA:77293
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Bradycardia, Megaloblastic anemia, Cardiac arrest, Hypotension, Pulmonary arterial hypertension, ...	OMIM:277400
X-Linked Dominant Chondrodysplasia Punctata	Scaling skin, Microphthalmia	ORPHA:35173
3Q29 Microduplication Syndrome	Microphthalmia, Ventricular septal defect, Aniridia	ORPHA:251038
Cyclic Neutropenia	Decreased eosinophil count, Cyclic neutropenia, Thrombocytopenia, Lymphopenia	ORPHA:2686
Zika Virus Disease	Thrombocytopenia	ORPHA:448237
Spinocerebellar Ataxia Type 36	Vertigo, Tongue fasciculations, Hearing impairment, Dysphagia, Skeletal muscle atrophy, Loss of P...	ORPHA:276198
Osteopetrosis, Autosomal Recessive 1	Thrombocytopenia, Anemia, Splenomegaly, Pancytopenia	OMIM:259700
3-Methylglutaconic Aciduria, Type Viib	Congestive heart failure, Thrombocytopenia, Leukopenia, Neutropenia	OMIM:616271
Autoimmune Polyendocrine Syndrome, Type Ii	Steatorrhea, Cirrhosis, Iron deficiency anemia, Band keratopathy, Keratoconjunctivitis, Asplenia,...	OMIM:269200
Brachyolmia Type 3	Radial deviation of finger, Barrel-shaped chest, Childhood-onset short-trunk short stature, Scoli...	OMIM:113500
Adams-Oliver Syndrome 1	Encephalocele, Ventriculomegaly, Alopecia, Hypertension, Pulmonary arterial hypertension, Pulmona...	OMIM:100300
Atrial Septal Defect, Ostium Primum Type	Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat...	ORPHA:99106
Holocarboxylase Synthetase Deficiency	Thrombocytopenia	ORPHA:79242
Fanconi Anemia, Complementation Group Q	Esophageal atresia, Biliary atresia, Primum atrial septal defect, Low-set ears, Growth delay, Sho...	OMIM:615272
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent corneal erosions, Trichiasis, Nail dystrophy, Knee flexion contracture, Corneal ulcerat...	OMIM:148210
Tubulinopathy-Associated Dysgyria	Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Abnormal thalamus morphology, Hypopl...	ORPHA:467166
Cleft Lip/Palate	Orofacial cleft, Recurrent otitis media, Abnormal number of permanent teeth, Oral-pharyngeal dysp...	ORPHA:199306
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hepatic arteriovenous malformation, Anemia, Gastrointestinal carcinoma, Aortic aneurysm, Telangie...	OMIM:175050
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Abnormality of the sphenoid sinus, Optic nerve compression, Anterior hy...	ORPHA:91350
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Nail dystrophy, Decreased circulating cortisol level, Recurrent sinusitis, Psoriasiform dermatiti...	ORPHA:293978
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia, Severe intrauterine growth retardation	OMIM:241410
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Synophrys, Protruding tongue, Abnormal heart morphology	DECIPHER:52
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Anemia, Melena, Capillary leak, Hypertension, Leukocytosis, Hypotension, Internal he...	ORPHA:340
Distal Renal Tubular Acidosis	Reduced bone mineral density, Decreased glomerular filtration rate, Renal potassium wasting, Sens...	ORPHA:18
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Rocker bottom foot, Decreased circulating androstenedione concentration, Breech presentation, Dec...	OMIM:201750
Porphyria, Congenital Erythropoietic	Increased fecal coproporphyrin 1, Splenomegaly, Pathologic fracture, Reduced erythrocyte uroporph...	OMIM:263700
Sillence Syndrome	Large iliac wing, Flat acetabular roof, Broad metatarsal, Broad thumb, Abnormal morphology of the...	ORPHA:3168
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Pallor	ORPHA:300298
Pulmonary Hypertension, Primary, 1	Pulmonary artery vasoconstriction, Increased pulmonary vascular resistance, Elevated right atrial...	OMIM:178600
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Thrombocytopenia, Hypochromic microcytic anemia	ORPHA:3240
Joubert Syndrome 5	Occipital encephalocele, Molar tooth sign on MRI, Nephronophthisis, Renal cortical cysts, Impaire...	OMIM:610188
Joubert Syndrome 39	Occipital encephalocele, Molar tooth sign on MRI, Retinal dystrophy, Joint contracture of the 5th...	OMIM:619562
Aspartylglucosaminuria	Spondylolysis, Spondylolisthesis, Kyphosis, Hypoplastic frontal sinuses, Delayed skeletal maturat...	OMIM:208400
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Zollinger-Ellison Syndrome	Duodenal ulcer, Intestinal obstruction, Gastrointestinal hemorrhage, Lipoma, Pituitary growth hor...	ORPHA:913
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Wilson Disease	Thrombocytopenia, Anemia, Splenomegaly	ORPHA:905
Glucagonoma	Intestinal obstruction, Steatorrhea, Neoplasm of the pancreas, Gastrointestinal hemorrhage, Normo...	ORPHA:97280
Tetramelic Monodactyly	Split foot, Foot monodactyly, Split hand, Hand monodactyly	OMIM:187510
Familial Gestational Hyperthyroidism	Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Goiter, Activating thyroid-stimulating hormo...	ORPHA:99819
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Polyhydramnios, Type 2 muscle fiber atrophy, Chylothorax, Type 1 muscle fiber atrophy, Type 2 mus...	OMIM:619036
Tangier Disease	Hypertriglyceridemia, Anemia, Thrombocytopenia, Hepatosplenomegaly, Hypocholesterolemia	ORPHA:31150
Fanconi Anemia, Complementation Group D2	Anemic pallor, Abnormal heart morphology, Microphthalmia	OMIM:227646
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Leukocytosis, Normocytic hypoplastic anemia, Hepatosplenomegaly...	OMIM:610377
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Congestive heart failure, Anemia, Pulmonary arterial hypertension, Tricuspid regurgitation, Hyper...	ORPHA:505248
Telangiectasia, Hereditary Hemorrhagic, Type 2	Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Cl...	OMIM:600376
Glycogen Storage Disease Vii	Increased muscle glycogen content, Jaundice, Exercise-induced myoglobinuria, Hematuria, Cholelith...	OMIM:232800
Ataxia-Telangiectasia	Delayed puberty, Recurrent lower respiratory tract infections, Abnormal hair morphology, Recurren...	OMIM:208900
Isolated Anencephaly	Congenital diaphragmatic hernia, Maternal diabetes, Adrenal hypoplasia, Omphalocele, Thymus hyper...	ORPHA:563609
Angelman Syndrome	Widely spaced teeth, Scoliosis, Mandibular prognathia, Protruding tongue, Hypoplasia of the maxil...	OMIM:105830
Stormorken-Sjaastad-Langslet Syndrome	Short stature, Anemia, Asplenia	ORPHA:3204
Neuroblastoma	Elevated circulating catecholamine level, Thrombocytopenia, Hypertension, Anemia	ORPHA:635
Menke-Hennekam Syndrome 2	Duodenal ulcer, Sandal gap, Narrow nasal bridge, Absent earlobe, Hearing impairment, Micrognathia...	OMIM:618333
Spinocerebellar Ataxia 36	Tongue fasciculations, Cerebellar atrophy, Hearing impairment, Skeletal muscle atrophy, Dysphagia...	OMIM:614153
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Pallor	OMIM:194380
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Anemia, Suprava...	OMIM:620185
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Eisenmenger Syndrome	Vertigo, Aortopulmonary window, Clubbing, Ascites, Left-to-right shunt, Abnormal heart morphology...	ORPHA:97214
Pseudo-Torch Syndrome 1	Thrombocytopenia, Splenomegaly	OMIM:251290
Combined Immunodeficiency Due To Crac Channel Dysfunction	Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Immunodeficiency 40	Thrombocytopenia, T lymphocytopenia	OMIM:616433
Takenouchi-Kosaki Syndrome	Pulmonic stenosis, Increased mean platelet volume, Cryptorchidism, Thrombocytopenia	OMIM:616737
Micro Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:2510
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Hematemesis, Small vessel vasculitis, Large vessel vasculitis, Impai...	OMIM:301000
Warburg Micro Syndrome 3	Microphthalmia	OMIM:614222
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Prolonged PR interval, Atrial fibrillation, Pulmonary artery atresia, Secundum atrial septal defe...	OMIM:108900
Pituitary Apoplexy	Pallor	ORPHA:95613
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, A...	ORPHA:251380
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia of scalp, Nail dystrophy, Squamous cell carcinoma, Premature loss of teeth, Conjunctival...	OMIM:618373
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Cerebellar cyst, Inferior cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, R...	ORPHA:370022
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Anemia	ORPHA:3322
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Pallor	OMIM:300908
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Thrombocytopenia, Nephrogenic diabetes insipidus	OMIM:208085
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Hypohidrotic Ectodermal Dysplasia	Trichorrhexis nodosa, Keratoconjunctivitis sicca, Breast aplasia, Slow-growing hair, Anteverted n...	ORPHA:238468
Combined Oxidative Phosphorylation Deficiency 59	Congestive heart failure, Dicarboxylic aciduria, Cholelithiasis, Hypertrophic cardiomyopathy, Cer...	OMIM:620646
Methylmalonic Aciduria, Cbla Type	Pancytopenia, Thrombocytopenia, Anemia, Neutropenia	OMIM:251100
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Dry skin	OMIM:601675
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Familial Multinodular Goiter	Thyroid carcinoma, Basal cell carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Colorectal p...	ORPHA:276399
Loeys-Dietz Syndrome	Arterial tortuosity, Pectus carinatum, Pectus excavatum, Arterial dissection, Arachnodactyly, Bif...	ORPHA:60030
Immunodeficiency 82 With Systemic Inflammation	Duodenal ulcer, Bronchitis, Crohn's disease, T lymphocytopenia, Splenomegaly, Reduced natural kil...	OMIM:619381
Osteogenesis Imperfecta, Type Iv	Reduced bone mineral density, Femoral bowing present at birth, straightening with time, Otosclero...	OMIM:166220
Pierson Syndrome	Microphthalmia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Rieger anomaly, Edema, Ol...	OMIM:609049
Laterality Defects, Autosomal Dominant	Situs inversus totalis, Asplenia	OMIM:601086
Diamond-Blackfan Anemia 21	Thrombocytopenia, Aortic regurgitation, Anemia, Erythroid hypoplasia	OMIM:620072
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hypertension, Leukocytosis, Reticulocytosis, Thrombocytopenia, Microangiopathic hemolytic anemia,...	ORPHA:90038
Microphthalmia/Coloboma 12	Microphthalmia, Optic nerve aplasia	OMIM:120200
Autosomal Erythropoietic Protoporphyria	Decreased liver function, Cirrhosis, Cholelithiasis, Edema, Microcytic anemia	ORPHA:79278
Von Hippel-Lindau Disease	Myocarditis, Pallor, Macular edema, Cardiomyopathy	ORPHA:892
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Venous insufficiency, Retinopathy, Thin skin, Abnormal cerebral vascular morphology, Pulmonary em...	ORPHA:743
Choreoacanthocytosis	Hepatomegaly, Peripheral axonal neuropathy, Arthritis, Distal amyotrophy, Abnormal erythrocyte en...	ORPHA:2388
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Tibial bowing, Iris atrophy, Kyphosis, Biconcave vertebral bodies, Pathologic fra...	OMIM:259770
Congenital Pulmonary Valvar Stenosis	Atrial septal defect, Laryngeal stenosis	ORPHA:3189
Sickle Cell Anemia	Reticulocytosis, Jaundice, Splenic infarction, Osteoporosis, Pulmonary arterial hypertension, Thr...	ORPHA:232
Treacher Collins Syndrome 2	Retrognathia, Microtia, Choanal atresia, Fusion of middle ear ossicles, Conductive hearing impair...	OMIM:613717
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Hypertriglyceridemia, Hypertension, Pulmonary arterial hypertension,...	OMIM:619573
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Tricuspid regurgitation, Thrombocytopenia, Leukopenia, Splen...	OMIM:300972
Cowden Syndrome 7	Ductal carcinoma in situ, Trichilemmoma, Intestinal polyposis, Papillary thyroid carcinoma, Heman...	OMIM:616858
Incontinentia Pigmenti	Microphthalmia, Skin ulcer, Spina bifida occulta, Umbilical hernia, Erythema	ORPHA:464
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Lowe Oculocerebrorenal Syndrome	Wrist swelling, Kyphosis, Renal Fanconi syndrome, Pathologic fracture, Joint hypermobility, Stage...	OMIM:309000
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Pituitary Carcinoma	Enlarged pituitary gland, Pituitary gonadotropic cell adenoma, Diabetes insipidus, Increased circ...	ORPHA:300385
Gjc2-Related Late-Onset Primary Lymphedema	Ankle swelling, Facial edema, Edema of the dorsum of hands, Hypoplasia of lymphatic vessels, Veno...	ORPHA:568051
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Chronic otitis media, Situs inversus totalis, Primum atrial septal defect, Partial atrioventricul...	OMIM:619608
Deeah Syndrome	Decreased response to growth hormone stimulation test, Decreased heart rate variability, Anterior...	OMIM:619004
Fanconi Anemia, Complementation Group N	Atrial septal defect, Ventricular septal defect, Microphthalmia	OMIM:610832
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Anemia, Thrombocytopenia, Abnormality of neutrophils, Sudden cardiac...	ORPHA:36426
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Pallor, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Marburg Hemorrhagic Fever	Bradycardia, Capillary leak, Neutrophilia in presence of infection, Abnormal lymphocyte morpholog...	ORPHA:99826
Dyskeratosis Congenita, Autosomal Recessive 1	Aplastic anemia, Thrombocytopenia, Pancytopenia	OMIM:224230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia, Encephalocele	OMIM:613150
Osteopetrosis, Autosomal Recessive 5	Anemia, Hypochromic microcytic anemia, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomega...	OMIM:259720
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Abnormal cerebral vascular morphology, Thin skin, Pulmonary embolism, Venous insufficiency	ORPHA:745
Glycogen Storage Disease Xii	Delayed puberty, Muscle fiber splitting, Normocytic anemia, Jaundice, Hepatomegaly, Decreased ery...	OMIM:611881
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Delayed puberty, Nail dystrophy, Anal fissure, Corneal erosion, Dysphagia, Squamous cell carcinom...	ORPHA:79408
Cleidocranial Dysplasia 2	Osteopenia, Supernumerary tooth, Genu valgum, Delayed pubic bone ossification, Short clavicles, D...	OMIM:620099
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Stroke, Hypertension, Splenic infarction, Leuk...	OMIM:603903
Spondyloepimetaphyseal Dysplasia, X-Linked	Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car...	OMIM:300106
Amyotrophic Lateral Sclerosis	Progressive spinal muscular atrophy, Progressive distal muscular atrophy, Lower limb muscle weakn...	ORPHA:803
Hypothyroidism, Congenital, Nongoitrous, 9	Inappropriately normal thyroid-stimulating hormone level, Thyroid hypoplasia, Short stature, Cent...	OMIM:301035
Galloway-Mowat Syndrome 1	Intrauterine growth retardation, Microphthalmia, Oligohydramnios, Hypoplasia of the iris	OMIM:251300
Mogs-Cdg	Inappropriate antidiuretic hormone secretion, Hypothyroidism, Thrombocytopenia, Hepatosplenomegal...	ORPHA:79330
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Narrow nasal base, Cleft ala nasi, Breast aplasia, Wide nose, Mandibular prognathia, Decreased te...	ORPHA:3044
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Cryptorchidism, Thrombocytopenia, Decreased heart rate variab...	OMIM:619005
Aicardi-Goutieres Syndrome 7	Hematemesis, Anemia, Pancytopenia, Vasculitis, Hypertension, Hypertrophic cardiomyopathy, Hypothy...	OMIM:615846
Q Fever	Myocarditis, Anemia, Vasculitis, Pericarditis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly...	ORPHA:781
Immunodeficiency With Hyper-Igm, Type 1	Thrombocytopenia, Splenomegaly, Hemolytic anemia, Neutropenia	OMIM:308230
Spondylometaphyseal Dysplasia, Algerian Type	Short tubular bones of the hand, Kyphoscoliosis, Carpal bone hypoplasia, Flared femoral metaphysi...	OMIM:184253
Asplenia, Isolated Congenital	Howell-Jolly bodies, Thrombocytosis, Asplenia	OMIM:271400
Unilateral Polymicrogyria	Stroke, Pseudobulbar paralysis, Abnormal heart morphology, Epistaxis, Giant somatosensory evoked ...	ORPHA:268943
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Widely spaced teeth, Hypopigmentation of hair, Scoliosis, Mandibular prognathia, Limitation of mo...	ORPHA:98794
Mitchell-Riley Syndrome	Annular pancreas, Biliary atresia, Meckel diverticulum, Acholic stools, Pancreatic hypoplasia, Ch...	OMIM:615710
Psoriasis 14, Pustular	Nail dystrophy, Cholangitis, Polyarticular arthritis, Furrowed tongue, Leukocytosis, Geographic t...	OMIM:614204
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Macrovesicular hepatic steatosis, Coronary artery atherosclerosis, Acute hepatic steatosis, Chole...	ORPHA:209902
Protoporphyria, Erythropoietic, 1	Edema, Hemolytic anemia, Cholelithiasis, Hepatic failure	OMIM:177000
Combined Oxidative Phosphorylation Deficiency 14	Thrombocytopenia, Anemia	OMIM:614946
Papillorenal Syndrome	Edema, Microphthalmia	OMIM:120330
Joubert Syndrome 17	Molar tooth sign on MRI, Preaxial polydactyly, Postaxial polydactyly, Abnormal retinal morphology...	OMIM:614615
Kasabach-Merritt Phenomenon	Anemia, Reticulocytosis, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia, Neutrop...	ORPHA:2330
Norrie Disease	Buphthalmos, Microphthalmia, Hypoplasia of the iris	OMIM:310600
Cleft Velum	Recurrent otitis media, Cleft soft palate, Oral-pharyngeal dysphagia, Aspiration pneumonia, Hypop...	ORPHA:99772
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Limb hypertonia, Cerebellar atrophy, Protruding tongue, Hearing impairment, Hand clenching, Ventr...	OMIM:619580
Tempi Syndrome	Abnormality of the pulmonary vasculature, Transudative pleural effusion, Ascites, Hemangioma, Pol...	ORPHA:284227
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Nail dystrophy, Distal lower limb amyotrophy, Anemia, Smooth tongue, Corneal opacity, Squamous ce...	ORPHA:79396
Protoporphyria, Erythropoietic, X-Linked	Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Cholelithiasis	OMIM:300752
3Q29 Microdeletion Syndrome	Microphthalmia, Subvalvular aortic stenosis	ORPHA:65286
Plague	Hematemesis, Acute infectious pneumonia, Splenomegaly, Edema, Hearing impairment, Inflammation of...	ORPHA:707
Lelis Syndrome	Nail dystrophy, Yellow nails, Mandibular prognathia, Furrowed tongue, Sparse lateral eyebrow, Car...	ORPHA:140936
Yellow Fever	Hematemesis, Reduced left ventricular ejection fraction, Bradycardia, Capillary leak, Supraventri...	ORPHA:99829
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Duodenal ulcer, Dysphagia, Joint hypermobility, Craniosynostosis, Gastric ulcer, Increased hepati...	OMIM:147060
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Posteriorly placed tongue, Syncope, Premature ventricular contraction, Aplasia/Hypoplasia of the ...	OMIM:192445
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Microphthalmia, Encephalocele	OMIM:614643
Castleman Disease	Thrombocytopenia, Restrictive cardiomyopathy, Anemia, Decreased mean corpuscular volume	ORPHA:160
Paroxysmal Nocturnal Hemoglobinuria	Myocardial infarction, Anemia, Pancytopenia, Hypertension, Abnormal erythrocyte enzyme concentrat...	ORPHA:447
Shigellosis	Myocarditis, Splenic abscess, Leukocytosis, Hypovolemic shock, Thrombocytopenia, Microangiopathic...	ORPHA:810
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Microtia, Micrognathia, Cleft palate, Anotia, Conotruncal defect	OMIM:243440
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Curry-Jones Syndrome	Microphthalmia, Occipital meningocele, Lipomyelomeningocele	OMIM:601707
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Anemia, Thrombocytopenia, Sudden cardiac death, Neutropenia	ORPHA:537
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Everted lower lip vermilion, Microdontia, Aplasia/Hypoplastia of the...	OMIM:305100
21Q22.11Q22.12 Microdeletion Syndrome	Thrombocytopenia, Hypoplastic nipples, Anemia	ORPHA:261323
Congenital Heart Defects, Multiple Types, 7	Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ...	OMIM:618780
Wars2-Related Combined Oxidative Phosphorylation Defect	Cardiomyopathy, Thrombocytopenia	ORPHA:572798
Hyperbiliverdinemia	Decreased liver function, Green urine, Cholestasis, Cholelithiasis	OMIM:614156
Spondylospinal Thoracic Dysostosis	Multiple pterygia, Short thorax, Hypoplasia of the maxilla, Micrognathia, Pulmonary hypoplasia, A...	OMIM:601809
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Gaucher Disease, Perinatal Lethal	Anemia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:608013
Gaucher Disease Type 3	Delayed puberty, Anemia, Pancytopenia, Pulmonary arterial hypertension, Thrombocytopenia, Splenom...	ORPHA:77261
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Anemia, Accessory spleen, Portal hypertension, Pulmonary arterial hypertension, Hypothyroidism, S...	OMIM:620005
Martinez-Frias Syndrome	Annular pancreas, Hypoplasia of the gallbladder, Hypospadias, Pancreatic hypoplasia, Intestinal h...	OMIM:601346
Oculoauricular Syndrome	Microphakia, Microphthalmia, Spina bifida occulta, Phthisis bulbi, Macular hypoplasia	OMIM:612109
Celiac Artery Stenosis From Compression By Median Arcuate Ligament Of Diaphragm	Celiac artery compression	OMIM:116870
Pancreatic Colipase Deficiency	Steatorrhea, Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency, Fat malabso...	ORPHA:309108
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Darier-White Disease	Palmar pits, Enlargement of parotid gland	OMIM:124200
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, ...	ORPHA:69663
Trichothiodystrophy	Bilateral microphthalmos, Cardiomyopathy, Dry skin, Umbilical hernia, Intrauterine growth retarda...	ORPHA:33364
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Widely spaced teeth, Hypopigmentation of hair, Mandibular prognathia, Protruding tongue, Iris hyp...	ORPHA:98795
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia	ORPHA:91495
Angelman Syndrome Due To A Point Mutation	Widely spaced teeth, Hypopigmentation of hair, Mandibular prognathia, Protruding tongue, Iris hyp...	ORPHA:411511
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Retinal telangiectasia, Anemia, Gastrointestinal telangiectasia, Thrombocytopenia, Intestinal ble...	OMIM:612199
Thoracic Outlet Syndrome	Edema, Varicose veins, Abnormal rib morphology	ORPHA:97330
Farber Disease	Thrombocytopenia, Hepatosplenomegaly, Anemia	ORPHA:333
Combined Oxidative Phosphorylation Deficiency 55	Thrombocytopenia, Anemia	OMIM:619743
Cardiac Valvular Dysplasia 2	Pulmonary insufficiency, Aortic regurgitation, Palpitations, Ascending tubular aorta aneurysm, Dy...	OMIM:620067
Teebi-Shaltout Syndrome	Aortic valve stenosis, Microphthalmia, Ventricular septal defect	OMIM:272950
Telangiectasia, Hereditary Hemorrhagic, Type 4	Tongue telangiectasia, Ischemic stroke, Spinal arteriovenous malformation, High-output congestive...	OMIM:610655
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia, Histiocytoid cardiomyopathy, Overriding aorta, Atrial septal defect, Ventricular ...	OMIM:309801
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Thrombocytopenia, Splenomegaly, Portal hypertension	OMIM:251880
Thoracoabdominal Syndrome	Congenital diaphragmatic hernia, Ectopia cordis, Transposition of the great arteries, Anencephaly...	OMIM:313850
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Thrombocytopenia	ORPHA:457351
Microphthalmia, Lenz Type	Microphthalmia	ORPHA:568
Dubowitz Syndrome	Anemia, Hypoparathyroidism, Cryptorchidism, Acute lymphoblastic leukemia, Thrombocytopenia, Abnor...	ORPHA:235
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Microphthalmia, Buphthalmos	OMIM:221900
Czech Dysplasia	Short metatarsal, Flat capital femoral epiphysis, Intervertebral space narrowing, Osteochondroma,...	OMIM:609162
Lathosterolosis	Anisopoikilocytosis, Thrombocytopenia, Abnormal platelet morphology	ORPHA:46059
Oculo-Palato-Cerebral Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:2714
Holocarboxylase Synthetase Deficiency	Thrombocytopenia	OMIM:253270
Pauci-Immune Glomerulonephritis	Small vessel vasculitis, Abnormality of the pulmonary vasculature, Acute kidney injury, Abnormali...	ORPHA:93126
Rift Valley Fever	Hematemesis, Anemia, Melena, Retinal hemorrhage, Thrombocytopenia	ORPHA:319251
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Generalized Pustular Psoriasis	Congestive heart failure, Cheilitis, Elevated circulating hepatic transaminase concentration, Art...	ORPHA:247353
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Fraser-Like Syndrome	Overlapping toe, Subglottic stenosis, Ovarian cyst, Contracture of the proximal interphalangeal j...	OMIM:229230
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia	OMIM:614230
Lysinuric Protein Intolerance	Anemia, Hemophagocytosis, Thrombocytopenia, Leukopenia, Splenomegaly, Pulmonary hemorrhage	OMIM:222700
Poirier-Bienvenu Neurodevelopmental Syndrome	Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum	OMIM:618732
Fragile X-Associated Tremor/Ataxia Syndrome	Abnormal brainstem morphology, Pollakisuria, Hypertension, Abnormal autonomic nervous system phys...	ORPHA:93256
Hartnup Disease	Glossitis, Gingivitis, Short stature, Abnormal urinary color, Neutral hyperaminoaciduria	ORPHA:2116
Axenfeld-Rieger Syndrome, Type 1	Decreased response to growth hormone stimulation test, Anal stenosis, Polycoria, Aniridia, Short ...	OMIM:180500
Gaucher Disease, Type Ii	Thrombocytopenia, Anemia, Splenomegaly	OMIM:230900
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Ulnar radial head dislocation, Short mandibular condyles	OMIM:264270
Lysinuric Protein Intolerance	Hypertriglyceridemia, Steatorrhea, Decreased response to growth hormone stimulation test, Anemia,...	ORPHA:470
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Acrodermatitis Enteropathica	Cheilitis, Corneal erosion, Glossitis, Furrowed tongue, Abnormality of the tongue, Short stature,...	ORPHA:37
Familial Acute Necrotizing Encephalopathy	Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology, Abnormal thalamus morphol...	ORPHA:88619
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Cerebellar cyst, Retinal dystrophy, Abnormal brainstem morphology, Cerebellar vermis hypoplasia, ...	ORPHA:370997
Plasminogen Deficiency, Type I	Duodenal ulcer, Periodontitis, Hydrocephalus, Dandy-Walker malformation, Gingival overgrowth, Gin...	OMIM:217090
Brucellosis	Myocarditis, Anemia, Arteritis, Transient ischemic attack, Leukocytosis, Pericarditis, Leukopenia...	ORPHA:1304
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Sinus tachycardia, Abnormal pulse pressure, Hypotension, ST segment depres...	ORPHA:466650
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Dubowitz Syndrome	Intrauterine growth retardation, Microphthalmia, Hypoplasia of the iris	OMIM:223370
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Cholelithiasis, Normochromic anemia, Nonspherocytic hemolytic anemia...	OMIM:235700
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Neoplasm of the nervous system, Intermittent jaundice, Chronic noninfe...	ORPHA:100086
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Thrombocytopenia, Normochromic anemia	OMIM:254900
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Abnormal metacarpal morphology, Asymmetry of the thorax, Finger syndactyly, Aplasia/Hypoplasia of...	ORPHA:1112
Cockayne Syndrome B	Intrauterine growth retardation, Microphthalmia, Dry skin, Hypoplasia of the iris	OMIM:133540
Choanal Atresia	Polydactyly, Subglottic stenosis, Tracheomalacia, Nasal congestion, Craniosynostosis, Recurrent r...	ORPHA:137914
Cholestasis, Benign Recurrent Intrahepatic, 2	Jaundice, Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly	OMIM:605479
Mend Syndrome	Aortic valve stenosis, Microphthalmia, Abnormal heart morphology	ORPHA:401973
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Biliary atresia, Myositis, Calf muscle hypertrophy, Skeletal muscle atrophy, Proximal muscle weak...	ORPHA:565899
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, B lymphocytopenia, T lymphocytopenia, Conjunctival telangiectasia, T...	OMIM:251260
Oculodentodigital Dysplasia	Atrial septal defect, Microphthalmia	OMIM:164200
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Multiple Synostoses Syndrome 4	Otosclerosis, Overlapping toe, Tarsal synostosis, Brachydactyly	OMIM:617898
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Pitt-Hopkins-Like Syndrome 2	Gastroesophageal reflux, Scoliosis, Protruding tongue, Pulmonic stenosis, Wide mouth	OMIM:614325
Hereditary Elliptocytosis	Postnatal growth retardation, Jaundice, Hydrops fetalis, Cholelithiasis, Reticulocytosis, Poikilo...	ORPHA:288
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Glomuvenous Malformation	Gastrointestinal arteriovenous malformation, Venous malformation, Arteriovenous malformation, Abn...	ORPHA:83454
Fanconi Anemia, Complementation Group L	Intrauterine growth retardation, Microphthalmia	OMIM:614083
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
Leptospirosis	Hypotension, Retinal hemorrhage, Pericarditis, Thrombocytopenia, Subconjunctival hemorrhage, Arrh...	ORPHA:509
Roberts Syndrome	Microphthalmia, Polyhydramnios, Severe intrauterine growth retardation	ORPHA:3103
Odontoonychodermal Dysplasia	Dystrophic fingernails, Smooth tongue, Conical incisor, Abnormality of primary teeth, Dystrophic ...	OMIM:257980
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Increased mean platelet volume, Thrombocytopenia, Abnormality of the endocrine system	ORPHA:487796
Congenital Erythropoietic Porphyria	Reticulocytosis, Poikilocytosis, Anisocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Erythr...	ORPHA:79277
Isolated Arrhinia	Midline defect of the nose, Microtia, Aplasia/Hypoplasia of the nasal septum, Absent nasal septal...	ORPHA:1134
Acute Liver Failure	Gastrointestinal hemorrhage, Shock, Hypotension, Thrombocytopenia, Intracranial hemorrhage, Adren...	ORPHA:90062
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Multiple Mitochondrial Dysfunctions Syndrome 7	Thrombocytopenia	OMIM:620423
Dyskeratosis Congenita, X-Linked	Anemia, Acute myeloid leukemia, Pancytopenia, Decreased testicular size, Thrombocytopenia, Leukop...	OMIM:305000
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Fibular aplasia, Abnormality of the hand, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda...	OMIM:246570
Criss-Cross Heart	Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve...	ORPHA:1461
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Thrombocytopenia, Splenomegaly	OMIM:301072
Cockayne Syndrome Type 3	Microphthalmia, Cardiomyopathy	ORPHA:90324
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Systemic Lupus Erythematosus	Hypertension, Thrombocytopenia, Leukopenia, Raynaud phenomenon, Hemolytic anemia	ORPHA:536
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Acute leukemia, Thrombocytopenia, Hemolytic anemia	ORPHA:647
Microphthalmia, Syndromic 1	Bicuspid aortic valve, Microphthalmia, Anophthalmia	OMIM:309800
Rothmund-Thomson Syndrome, Type 2	Microphthalmia	OMIM:268400
Aicardi-Goutières Syndrome	Chronic lymphatic leukemia, Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hy...	ORPHA:51
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Otosclerosis 7	Childhood onset sensorineural hearing impairment, Otosclerosis, Progressive hearing impairment, A...	OMIM:611572
X-Linked Dystonia-Parkinsonism	Impaired oropharyngeal swallow response, Aspiration pneumonia, Protruding tongue	ORPHA:53351
Chand Syndrome	Atelectasis, Hydroureter, Agenesis of maxillary incisor, Short fifth metatarsal, Curly hair, Abno...	ORPHA:1401
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Scoliosis, Ankyloglossia	OMIM:619352
Familial Cerebral Cavernous Malformation	Choroidal hemangioma, Retinal cavernous hemangioma, Venous malformation, Scoliosis, Hemangioma, F...	ORPHA:221061
Cockayne Syndrome	Microphthalmia, Premature skin wrinkling	ORPHA:191
Traboulsi Syndrome	Microphthalmia	OMIM:601552
Ectodermal Dysplasia-Skin Fragility Syndrome	Cheilitis, Nail dystrophy, Anoperineal fistula, Abnormal tongue morphology, Abnormality of the de...	ORPHA:158668
Duodenal Atresia	Duodenal atresia	OMIM:223400
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Macrodactyly, Venous malformation, Lymphedema, Capillary malformation of the lip, Varicose veins	OMIM:613089
Otosclerosis 11	Otosclerosis, Sensorineural hearing impairment, Absence of acoustic reflex, Conductive hearing im...	OMIM:620576
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology, Dysuria	ORPHA:293807
Craniofacial-Deafness-Hand Syndrome	Short nose, Sensorineural hearing impairment, Hypoplasia of the maxilla, Ulnar deviation of the h...	OMIM:122880
Cleft Palate With Or Without Ankyloglossia, X-Linked	Bifid uvula, Cleft palate, Ankyloglossia	OMIM:303400
Hypoglossia-Hypodactylia	Retrognathia, Adactyly, Split hand, Narrow mouth, Micrognathia, Microglossia, Aglossia	OMIM:103300
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Otosclerosis 8	Hearing impairment, Otosclerosis	OMIM:612096
Otosclerosis 3	Hearing impairment, Otosclerosis	OMIM:608244
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Aprosencephaly And Cerebellar Dysgenesis	Retinal dysplasia, Absent mesencephalon, Cerebellar dysplasia, Poorly formed metencephalon, Micro...	OMIM:601374
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
Witteveen-Kolk Syndrome	Intrauterine growth retardation, Microphthalmia, Polyhydramnios, Branchial fistula	OMIM:613406
Otosclerosis 1	Otosclerosis, Conductive hearing impairment	OMIM:166800
Autosomal Dominant Kenny-Caffey Syndrome	Intrauterine growth retardation, Bilateral microphthalmos	ORPHA:93325
Otosclerosis 4	Otosclerosis, Mixed hearing impairment	OMIM:611571
Hypoplasminogenemia	Duodenal ulcer, Periodontitis, Hydrocephalus, Dandy-Walker malformation, Gingival overgrowth, Abn...	ORPHA:722
Otosclerosis 10	Otosclerosis	OMIM:615589
Arteriovenous Malformations Of The Brain	Cerebral arteriovenous malformation	OMIM:108010
Goodpasture Syndrome	Pallor	OMIM:233450
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly	OMIM:228250
Pachyonychia Congenita 3	Nail dystrophy, Palmoplantar keratoderma, Furrowed tongue, Gingivitis, Oral leukoplakia, Palmar h...	OMIM:615726
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microphthalmia, Hypoplasia of the iris	OMIM:175780
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Postnatal growth retardation, Palpebral edema, Hypospadias, Gastroesophageal reflux, Esophagitis,...	ORPHA:79350

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Psph

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Psph.

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Psph^{tm1a(EUCOMM)Hmgu}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Psph^{tm1a(EUCOMM)Hmgu}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Psph^{tm1a(EUCOMM)Hmgu}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Psph^{tm1a(EUCOMM)Hmgu}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Psph^{tm1a(EUCOMM)Hmgu}	PMC5827107
Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice.	Wellcome open research (January 2016)	Psph^{tm1a(EUCOMM)Hmgu}	PMC5159622

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MGI Allele	Allele Type	Produced
Psph^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Psph^{tm1.1(KOMP)Vlcg}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice, Tissue
Psph^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Psph^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Psph MGI:97788

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Embryo LacZ

X-ray

DSS Histology

X-ray

Anti-nuclear antibody assay

X-ray

Gross Morphology Embryo E14.5-E15.5

Eye Morphology

Gross Pathology and Tissue Collection

Adult LacZ

Combined SHIRPA and Dysmorphology

MicroCT E14.5-E15.5

Eye Morphology

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Psph mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data