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Gene: Dmp1 MGI:94910

Gene Summary

Name:

dentin matrix protein 1

Synonyms:

N/A

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
enlarged kidney	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
decreased blood urea nitrogen level	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.20×10^-06
prolonged RR interval	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.07×10^-13
abnormal bone structure	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.37×10^-15
increased lean body mass	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.25×10^-05
increased circulating alkaline phosphatase level	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
decreased body length	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	2.03×10^-26
decreased bone mineral density	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	5.01×10^-18
decreased heart rate	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	7.18×10^-12
decreased bone mineral content	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	9.69×10^-20
decreased grip strength	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	6.06×10^-19
decreased circulating phosphate level	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	9.45×10^-07
abnormal kidney morphology	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
increased total body fat amount	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	2.96×10^-05

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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
Adrenal gland	Section images	heterozygote	50% (1 of 2)
Bone marrow	Section images	heterozygote	100% (2 of 2)
Cecum	Section images	heterozygote	50% (1 of 2)
Cerebellum	Section images	heterozygote	100% (2 of 2)
Colon	Section images	heterozygote	50% (1 of 2)
Epididymis	Section images	heterozygote	50% (1 of 2)
Esophagus	Section images	heterozygote	100% (2 of 2)
Gonadal fat pad	Section images	heterozygote	100% (2 of 2)
Ileum	Section images	heterozygote	50% (1 of 2)
Kidney	Section images	heterozygote	100% (2 of 2)
Mesenteric adipose tissue	Section images	heterozygote	100% (2 of 2)
Midbrain	Section images	heterozygote	100% (2 of 2)
Olfactory lobe	Section images	heterozygote	50% (1 of 2)
Ovary	Section images	heterozygote	50% (1 of 2)
Oviduct	Section images	heterozygote	50% (1 of 2)
Pancreas	Section images	heterozygote	100% (2 of 2)
Penis	Section images	heterozygote	50% (1 of 2)
Quadriceps	Section images	heterozygote	50% (1 of 2)
Sciatic nerve	Section images	heterozygote	50% (1 of 2)
Skin	Section images	heterozygote	50% (1 of 2)
Spinal cord	Section images	heterozygote	100% (2 of 2)
Spleen	Section images	heterozygote	100% (2 of 2)
Stomach	Section images	heterozygote	100% (2 of 2)
Sublingual gland	Section images	heterozygote	50% (1 of 2)
Submandibular gland	Section images	heterozygote	100% (2 of 2)
Testis	Section images	heterozygote	50% (1 of 2)
Thymus	Section images	heterozygote	50% (1 of 2)
Tongue	Section images	heterozygote	100% (2 of 2)
Trachea	Section images	heterozygote	50% (1 of 2)
Trigeminal V nerve	Section images	heterozygote	100% (2 of 2)
Urinary bladder	Section images	heterozygote	50% (1 of 2)
Vagina	Section images	heterozygote	50% (1 of 2)
Vas deferens	Section images	heterozygote	50% (1 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Blood	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	Not available
Cerebral cortex	N/A	heterozygote	Not available
Chest bone	N/A	heterozygote	Not available
Diaphragm	N/A	heterozygote	0.0% (0 of 2)
Duodenum	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	Not available
Harderian gland	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	Not available
Hindlimb	N/A	heterozygote	Not available
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Jejunum	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	50% (1 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	Not available
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	Not available
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Mesenteric lymph node	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Parotid gland	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	Not available
Peyer's patch	N/A	heterozygote	Not available
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	Not available
Skeletal muscle	N/A	heterozygote	Not available
Small intestine	N/A	heterozygote	50% (1 of 2)
Stomach pyloric region	N/A	heterozygote	Not available
Striatum	N/A	heterozygote	Not available
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	Not available
Vesicular gland	N/A	heterozygote	Not available
White adipose tissue	N/A	heterozygote	Not available

No Embryo expression data was found for this gene.

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%
blood
bone marrow
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cecum	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
chest bone
colon
diaphragm	0.0%
duodenum	0.0%
epididymis	Unavailable
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
gonadal fat pad	0.0%
harderian gland
heart	0.0%
hindlimb	0.0%
hippocampus	0.0%
hypothalamus	0.0%
ileum	0.0%
jejunum
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%
mesenteric adipose tissue	0.0%
mesenteric lymph node
midbrain	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
parotid gland	0.0%
penis	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
quadriceps	0.0%
sciatic nerve	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
stomach pyloric region	0.0%
striatum	0.0%
sublingual gland	0.0%
submandibular gland	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
tongue	0.0%
trachea	0.0%
trigeminal v nerve	0.0%
urinary bladder
uterus	0.0%
vagina	0.0%
vas deferens	Unavailable
vascular system	0.0%
vesicular gland	Unavailable
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Section

88 Images

View images

Histopathology

Images

2 Images

View images

Human diseases caused by Dmp1 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 Dmp1 (2 diseases)
Human diseases predicted to be associated with Dmp1 (1570 diseases)

The table below shows human diseases associated to Dmp1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Hypophosphatemic Rickets, Autosomal Recessive, 1		Rickets, Hypophosphatemic rickets, Increased bone mineral density, Hypophosphatemia, Craniosynost...	OMIM:241520
Autosomal Recessive Hypophosphatemic Rickets		Elevated alkaline phosphatase of bone origin, Polyarticular arthritis, Tibial bowing, Abnormality...	ORPHA:289176

The table below shows human diseases predicted to be associated to Dmp1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition	OMIM:125440
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Short philtrum, Delayed eruption of teeth, Osteoporosis, Dentinogenesis imperfecta, Cone-shaped e...	ORPHA:71267
Regional Odontodysplasia	Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de...	ORPHA:83450
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Abnormal cortical bone morphology, Upper limb undergrowth, Limitation of joint mobility, Toe clin...	ORPHA:166277
Dentinogenesis Imperfecta	Fragile teeth, Grayish enamel, Joint hypermobility, Yellow-brown discoloration of the teeth, Sele...	ORPHA:49042
Dentin Dysplasia, Type I	Oligodontia, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite...	OMIM:125400
Amelogenesis Imperfecta	Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati...	ORPHA:88661
Amelogenesis Imperfecta, Type Ij	Amelogenesis imperfecta, Widely spaced teeth, Increased overbite, Abnormal dentin morphology, Car...	OMIM:617297
Osteogenesis Imperfecta, Type V	Osteopenia, Anterior radial head dislocation, Hyperextensibility of the finger joints, Hyperexten...	OMIM:610967
Florid Cemento-Osseous Dysplasia	Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm...	ORPHA:83451
Anonychia-Microcephaly Syndrome	Carious teeth, Clinodactyly of the 5th finger, Abnormality of the dentition	ORPHA:1094
Osteogenesis Imperfecta, Type Xxii	Reduced bone mineral density, Slender long bone, Bowing of the long bones, Multiple prenatal frac...	OMIM:619795
Trichodentoosseous Syndrome	Increased bone mineral density, Widely spaced teeth, Microdontia, Taurodontia	OMIM:190320
Dentinogenesis Imperfecta, Shields Type Iii	Anterior open-bite malocclusion, Periapical bone loss, Dentinogenesis imperfecta, Dental enamel p...	OMIM:125500
Osteogenesis Imperfecta, Type Xix	Osteopenia, Multiple prenatal fractures, Dentinogenesis imperfecta, Joint hypermobility, Bowing o...	OMIM:301014
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Pfeiffer-Palm-Teller Syndrome	Joint stiffness, Enamel hypoplasia	ORPHA:2871
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Hypermobility of interphalang...	OMIM:613849
Dentin Dysplasia	Abnormal dental morphology, Abnormal dental enamel morphology, Increased bone mineral density	ORPHA:1653
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Elevated circulating parathyroid hormone level, Elevated circulating alkaline phospha...	OMIM:619073
Ghosal Hematodiaphyseal Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal c...	ORPHA:1802
Otodental Dysplasia	Agenesis of premolar, Delayed eruption of teeth, Enamel hypoplasia, Long philtrum, Tooth ankylosi...	OMIM:166750
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating osteocalcin level, Reduced bone mineral density, Hypophosphatemic rickets, ...	ORPHA:157215
Epidermolysis Bullosa, Junctional 1A, Intermediate	Enamel hypoplasia, Carious teeth, Camptodactyly of finger, Hypodontia, Oral mucosal blisters	OMIM:226650
Osteogenesis Imperfecta, Type Ix	Decreased calvarial ossification, Multiple prenatal fractures, Short lower limbs, Dentinogenesis ...	OMIM:259440
Amelogenesis Imperfecta, Type Ia	Amelogenesis imperfecta, Enamel hypoplasia, Generalized microdontia, Dental enamel pits, Taurodontia	OMIM:104530
Hypophosphatemic Rickets, X-Linked Recessive	Proximal tubulopathy, Femoral bowing, Tibial bowing, Nephrocalcinosis, Hypophosphatemia, Metaphys...	OMIM:300554
Hall-Riggs Syndrome	Microdontia of primary teeth, Hypoplasia of the primary teeth, Thick lower lip vermilion, Osteopo...	OMIM:234250
Amelogenesis Imperfecta, Type Ie	Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp...	OMIM:301200
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Macrodontia, Abnormality of the temporomandibular joint, Abnorma...	ORPHA:477781
Oligodontia	Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age...	ORPHA:99798
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging of the costochondral junction, Femoral bowing, Tibial bowing, Hypophosphatemia, Metaphyse...	OMIM:241530
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Amelogenesis imperfecta, Genu valgum, Small epiphyses, Inguinal hernia, Joint hypermobility, Mand...	OMIM:618363
Hypophosphatemic Rickets, X-Linked Dominant	Femoral bowing, Tibial bowing, Hypophosphatemia, Metaphyseal irregularity, Bowing of the legs, Ri...	OMIM:307800
Pyle Disease	Limited elbow extension, Reduced bone mineral density, Genu valgum, Delayed eruption of teeth, Ma...	OMIM:265900
Late-Onset Junctional Epidermolysis Bullosa	Enamel hypoplasia, Carious teeth, Oral mucosal blisters	ORPHA:79406
Odontochondrodysplasia	Abnormal metaphysis morphology, Retrognathia, Square pelvis bone, Delayed eruption of teeth, Bowi...	ORPHA:166272
Odontochondrodysplasia 1	Irregular epiphyses, Small epiphyses, Delayed eruption of teeth, Cone-shaped epiphyses of the pha...	OMIM:184260
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Short middle phalanx of the 5th finger, Carious teeth, Cutaneous finger syndactyly, Flexion contr...	OMIM:203550
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Elevated circulating parathyroid hormone level, Genu valgum, Generalized bone deminerali...	OMIM:600785
Dent Disease 1	Proximal tubulopathy, Femoral bowing, Tibial bowing, Nephrocalcinosis, Hypophosphatemia, Metaphys...	OMIM:300009
Hypophosphatemic Rickets, Autosomal Dominant	Rickets, Hypophosphatemic rickets, Renal phosphate wasting, Hypophosphatemia, Osteomalacia, Eleva...	OMIM:193100
Rhizomelic Chondrodysplasia Punctata, Type 3	Short femur, Short humerus, Rhizomelia, Epiphyseal stippling	OMIM:600121
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Enlargement of the costochondral junction, Fibular bowing, Elevated circulating alkaline...	OMIM:600081
Craniosynostosis 3	Right unicoronal synostosis, Bicoronal synostosis, Hallux valgus, Brachydactyly, Left unicoronal ...	OMIM:615314
Pseudopseudohypoparathyroidism	Short metatarsal, Delayed eruption of teeth, Short metacarpal, Osteoporosis, Enamel hypoplasia, B...	OMIM:612463
Junctional Epidermolysis Bullosa Inversa	Enamel hypoplasia, Carious teeth, Atrophic scars, Oral mucosal blisters	ORPHA:79405
Dental Ankylosis	Abnormal dental enamel morphology, Mandibular prognathia, Clinodactyly of the 5th finger, Tooth a...	ORPHA:1077
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Amelogenesis imperfecta, Enamel hypoplasia, Enamel hypomineralization	OMIM:614832
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Amelogenesis imperfecta	ORPHA:79129
Metaphyseal Chondrodysplasia, Spahr Type	Abnormal metaphysis morphology, Reduced bone mineral density, Abnormality of the dentition, Bowin...	ORPHA:2501
Shaheen Syndrome	Enamel hypoplasia, Carious teeth	OMIM:615328
Cleft Palate, Isolated	Increased overbite, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, Cleft palate	OMIM:119540
Rhizomelic Dysplasia, Ain-Naz Type	Rhizomelia, Wide distal femoral metaphysis, Limitation of joint mobility, Hypoplasia of the femor...	OMIM:619598
Endosteal Hyperostosis, Autosomal Dominant	Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Abnormal pelvic gi...	OMIM:144750
Amelogenesis Imperfecta, Type Ik	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:620104
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Bulging of the costochondral junction, Femoral bowing, Tibial bowing, ...	OMIM:264700
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste...	ORPHA:1879
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Joint hypermobility, Delayed eruption of teeth, Short middle phalanx of the 5...	ORPHA:63442
Microcephalic Primordial Dwarfism, Toriello Type	Enamel hypoplasia, Downturned corners of mouth, Brachydactyly, Abnormal epiphysis morphology, Rec...	ORPHA:2643
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Elevated circulating alkaline phosphatase concentration, Iron deficiency anemia, Hypocal...	ORPHA:89937
Hypocalcemic Vitamin D-Dependent Rickets	Elevated alkaline phosphatase of bone origin, Generalized aminoaciduria, Femoral bowing, Tibial b...	ORPHA:289157
Hypocalcemic Vitamin D-Resistant Rickets	Abnormal metaphysis morphology, Genu valgum, Abnormal hip bone morphology, Joint dislocation, Hyp...	ORPHA:93160
Osteochondrosis Of The Metatarsal Bone	Pedal edema, Flattened metatarsal heads, Abnormality of the third metatarsal bone, Arthritis, Str...	ORPHA:564003
Trichodental Dysplasia	Hypodontia, Odontodysplasia, Conical tooth	OMIM:601453
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Intermediate Generalized Junctional Epidermolysis Bullosa	Enamel hypoplasia, Atrophic scars, Oral mucosal blisters, Scarring alopecia of scalp	ORPHA:79402
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Enamel hypoplasia, Carious teeth, Recurrent respiratory infections, Thick vermilion border	ORPHA:363523
Dent Disease	Tubulointerstitial fibrosis, Proximal tubulopathy, Nephrocalcinosis, Metaphyseal irregularity, Re...	ORPHA:1652
48,Xyyy Syndrome	Thick lower lip vermilion, Dislocated radial head, High palate, Enamel hypoplasia, Irregularly sp...	ORPHA:99329
Osteogenesis Imperfecta, Type Iii	Slender long bone, Wide anterior fontanel, Tibial bowing, Decreased calvarial ossification, Multi...	OMIM:259420
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization	OMIM:613211
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets, Elevated circulating parathyroid hormone level, Decreased glomerular filtrat...	OMIM:613388
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Enamel hypoplasia, Retrognathia, High palate	OMIM:617915
Tricho-Dento-Osseous Syndrome	Agenesis of incisor, Periapical tooth abscess, Widely spaced teeth, Increased bone mineral densit...	ORPHA:3352
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Cranioectodermal Dysplasia	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Jo...	ORPHA:1515
Eiken Syndrome	Metaphyseal irregularity, Abnormal bone ossification, Fibular hypoplasia, Delayed epiphyseal ossi...	ORPHA:79106
Epidermolysis Bullosa, Junctional 1B, Severe	Enamel hypoplasia, Carious teeth, Atrophic scars, Syndactyly	OMIM:226700
Fanconi Renotubular Syndrome 1	Rickets, Low-molecular-weight proteinuria, Hypokalemia, Renal insufficiency, Renal tubular dysfun...	OMIM:134600
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology, Diaphyseal u...	ORPHA:3416
X-Linked Hypophosphatemia	Reduced bone mineral density, Flared iliac wing, Abnormal epiphysis morphology, Cellulitis, Crani...	ORPHA:89936
Ackerman Syndrome	Broad philtrum, Taurodontia	OMIM:200970
Amelogenesis Imperfecta, Type Iiib	Amelogenesis imperfecta, Enamel hypomineralization	OMIM:617607
Ectodermal Dysplasia-Syndactyly Syndrome 2	Enamel hypoplasia, Thin upper lip vermilion, Syndactyly	OMIM:613576
Tooth Agenesis, Selective, 7	Agenesis of permanent teeth, Taurodontia	OMIM:616724
Kohlschutter-Tonz Syndrome	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:226750
Intermediate Osteopetrosis	Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Abnormality of the ...	ORPHA:210110
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Genu valgum, Delayed eruption of teeth, Maxillozygomatic hypoplasia, Abnormal dental morphology, ...	ORPHA:2972
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
17Q11.2 Microduplication Syndrome	Abnormal dental enamel morphology, Thin vermilion border, Enamel hypoplasia, Malar flattening	ORPHA:139474
Cole-Carpenter Syndrome 1	Osteopenia, Reduced bone mineral density, Microdontia, Coronal craniosynostosis, Micrognathia, De...	OMIM:112240
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization	OMIM:617217
Short Stature, Dauber-Argente Type	Osteopenia, Reduced bone mineral density, Delayed eruption of teeth, Decreased fibular diameter, ...	OMIM:619489
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Thickened cortex of long bones, Mandibular osteomyelitis, R...	ORPHA:53697
Trichothiodystrophy 9, Nonphotosensitive	Joint hypermobility, Brachydactyly, High, narrow palate, Dental malocclusion	OMIM:619692
Amelogenesis Imperfecta, Type Ih	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:616221
Osteogenesis Imperfecta, Type Vi	Coxa vara, Protrusio acetabuli, Dentinogenesis imperfecta, Joint hypermobility, Bowing of the leg...	OMIM:613982
Amelogenesis Imperfecta, Type Iiia	Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion	OMIM:130900
Tooth Agenesis, Selective, 9	Selective tooth agenesis, Microdontia, Taurodontia	OMIM:617275
Mulibrey Nanism	Recurrent lower respiratory tract infections, Absent frontal sinuses, Dental crowding, Hypodontia...	OMIM:253250
Lowry-Maclean Syndrome	Craniosynostosis, Cleft palate, Delayed eruption of teeth	OMIM:600252
Osteogenesis Imperfecta, Type Xi	Osteopenia, Coxa vara, Protrusio acetabuli, Dentinogenesis imperfecta, Joint hypermobility, Recur...	OMIM:610968
Vitamin D-Dependent Rickets, Type 2A	Bulging of the costochondral junction, Femoral bowing, Tibial bowing, Hypophosphatemia, Metaphyse...	OMIM:277440
Hypertrichosis Lanuginosa Congenita	Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth	ORPHA:2222
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Bowing of the legs, Hypophosphatemia	OMIM:146350
Dentinogenesis Imperfecta 1	Yellow-brown discoloration of the teeth, Dentinogenesis imperfecta	OMIM:125490
Osteogenesis Imperfecta, Type Xiii	Thin vermilion border, Reduced bone mineral density, Limitation of knee mobility, Wide distal fem...	OMIM:614856
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Hypocalcemia, Osteomalacia, Impaired urinary acidification, Nephrolithiasis, Nephroc...	OMIM:179800
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Mandibular prognathia, High palate, Long fingers, Dental malocclusion, Tapered finger	OMIM:618292
Maxillonasal Dysplasia, Binder Type	Short distal phalanx of finger, Dental malocclusion	OMIM:155050
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Hypophosphatemic rickets, Increased bone mineral density, Hypophosphatemia, Craniosynost...	OMIM:241520
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Taurodontia	OMIM:104510
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Hypoplastic iliac wing, Mandibular prognathia, Abnormality of the dentition, Brachydactyly, Hip d...	ORPHA:1858
Congenital Disorder Of Glycosylation, Type Iik	Amelogenesis imperfecta, Diaphyseal dysplasia, Osteoporosis, Epiphyseal dysplasia, Metaphyseal dy...	OMIM:614727
Cole-Carpenter Syndrome 2	Osteopenia, Lambdoidal craniosynostosis, Narrow iliac wing, High palate, Coronal craniosynostosis...	OMIM:616294
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Hypophosphatasia, Adult	Rickets, Pathologic fracture, Arthropathy, Low alkaline phosphatase, Osteomalacia, Recurrent frac...	OMIM:146300
Gingival Fibromatosis-Progressive Deafness Syndrome	Gingival overgrowth, Gingival fibromatosis, Delayed eruption of teeth	ORPHA:2027
Immunodeficiency 33	Delayed eruption of teeth, Conical tooth, Hypodontia, Pneumocystis jirovecii pneumonia, Recurrent...	OMIM:300636
Hemifacial Atrophy, Progressive	Short mandibular rami, Dental malocclusion, Tongue atrophy, Delayed eruption of teeth	OMIM:141300
Epidermolysis Bullosa, Junctional 4, Intermediate	Carious teeth, Dental enamel pits, Scarring alopecia of scalp	OMIM:619787
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Supernumerary tooth, Agenesis of molar, Bicoronal synostosis, Osteoporosis, Microdont...	OMIM:619718
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Flat capital femoral epiphysis, Delayed eruption of teeth, Dislocated radial head, Fl...	OMIM:612350
Osteogenesis Imperfecta, Type Iv	Reduced bone mineral density, Femoral bowing present at birth, straightening with time, Dentinoge...	OMIM:166220
Amelogenesis Imperfecta, Type If	Amelogenesis imperfecta, Enamel hypoplasia, Dental enamel pits, Abnormality of dental color	OMIM:616270
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Enamel hypoplasia, Carious teeth, Increased connective tissue, Scarring alopecia of scalp	OMIM:226670
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth	ORPHA:3196
Osteogenesis Imperfecta, Type Xvii	Reduced bone mineral density, Thin metacarpal cortices, Bowed humerus, Osteoporosis, Thin long bo...	OMIM:616507
Otodental Syndrome	Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d...	ORPHA:2791
Familial Isolated Hyperparathyroidism	Osteopenia, Elevated circulating parathyroid hormone level, Hypercalciuria, Primary hyperparathyr...	ORPHA:99879
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-3 toe cutaneous syndactyly, Widely spaced teeth, Conical tooth, 4-5 toe syndactyly, Enamel hypo...	OMIM:613573
Ramon Syndrome	Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morpholog...	ORPHA:3019
Autosomal Recessive Hypophosphatemic Rickets	Elevated alkaline phosphatase of bone origin, Polyarticular arthritis, Tibial bowing, Abnormality...	ORPHA:289176
Brittle Cornea Syndrome 1	Joint hypermobility, Atypical scarring of skin, Dentinogenesis imperfecta, Congenital hip disloca...	OMIM:229200
Gingival Fibromatosis-Hypertrichosis Syndrome	Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth, Gingival fibromatosis	ORPHA:2026
Localized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Abnormality of dental color, Atypical scarring of skin, Enamel hypopl...	ORPHA:251393
Alpha-Mannosidosis	Narrow palate, Widely spaced teeth, Craniofacial hyperostosis, Inguinal hernia, Recurrent respira...	ORPHA:61
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat...	OMIM:200700
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Retrognathia, Clinodactyly of the 5th finger, Periodontitis, Cone-shaped epiphyses of...	OMIM:619269
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Osteogenesis Imperfecta, Type I	Osteopenia, Femoral bowing, Dentinogenesis imperfecta, Hip dysplasia, Joint hypermobility, Finger...	OMIM:166200
Osteogenesis Imperfecta, Type Viii	Osteopenia, Inguinal hernia, Slender long bone, Femoral retroversion, Wide anterior fontanel, Fem...	OMIM:610915
Stimmler Syndrome	Abnormal dental enamel morphology, Microdontia	ORPHA:3199
Pseudohypoparathyroidism, Type Ia	Short finger, Short metatarsal, Delayed eruption of teeth, Short metacarpal, Subcutaneous ossific...	OMIM:103580
Muenke Syndrome	Capitate-hamate fusion, Radial deviation of finger, Recurrent otitis media, Cone-shaped epiphyses...	OMIM:602849
Weismann-Netter Syndrome	Fibular bowing, Anterior tibial bowing, Calvarial hyperostosis, Lateral femoral bowing, Squared i...	OMIM:112350
Cenani-Lenz Syndactyly Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Enamel hypoplasia, Micro...	OMIM:212780
Auriculocondylar Syndrome 2A	Short mandibular rami, Dental crowding, Mandibular condyle hypoplasia, Temporomandibular joint an...	OMIM:614669
Galloway-Mowat Syndrome 8	Enamel hypoplasia	OMIM:618349
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia, Jaundice, Reduced bone mineral density, Splenomegaly	ORPHA:172
Fibrous Dysplasia Of Bone	Abnormal femur morphology, Precocious puberty in females, Abnormality of the endocrine system, Hy...	ORPHA:249
Sclerosteosis	Diaphyseal undertubulation, Abnormal cortical bone morphology, Craniofacial hyperostosis, Increas...	ORPHA:3152
Caffey Disease	Subperiosteal bone formation, Calvarial hyperostosis, Tibial bowing, Cortical irregularity, Perio...	OMIM:114000
Heimler Syndrome 1	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:234580
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Supernumerary tooth, Limitation of joint mobility, Carious teeth, Micrognathia, Hypoplasia of the...	ORPHA:3145
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Short philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognath...	ORPHA:2325
Renal Tubular Acidosis Iii	Rickets, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Nephrocalcinos...	OMIM:267200
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Mandibular prognathia, Arthrogryposis multiplex congenita, High palate, Dental malocclusion	OMIM:608931
Fanconi-Bickel Syndrome	Generalized aminoaciduria, Hypophosphatemia, Rickets, Intrahepatic cholestasis, Hyperphosphaturia...	OMIM:227810
Epiphyseal Dysplasia, Multiple, 5	Genu valgum, Irregular epiphyses, Arthralgia of the hip, Small epiphyses, Delayed ossification of...	OMIM:607078
Cleidocranial Dysplasia 2	Osteopenia, Supernumerary tooth, Genu valgum, Delayed pubic bone ossification, Short clavicles, D...	OMIM:620099
Cleft Lip/Palate	Orofacial cleft, Recurrent otitis media, Abnormal number of permanent teeth, Palate fistula, Bila...	ORPHA:199306
Bile Acid Conjugation Defect 1	Rickets, Jaundice, Elevated circulating alanine aminotransferase concentration, Conjugated hyperb...	OMIM:619232
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Exaggerated cupid's bow, H...	ORPHA:2025
Intellectual Developmental Disorder, Autosomal Recessive 39	Hallux valgus, Dental malocclusion	OMIM:615541
Qazi-Markouizos Syndrome	High, narrow palate, Recurrent infections, Delayed ossification of carpal bones, Hypoplasia of te...	ORPHA:3010
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of premolar, Agenesis of molar, Aplasia of the maxilla, Oligodontia, Selective tooth age...	OMIM:313500
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration,...	OMIM:109130
Amelogenesis Imperfecta, Type Ic	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:204650
Sjogren-Larsson Syndrome	Enamel hypoplasia, Flexion contracture	OMIM:270200
Odontotrichoungual-Digital-Palmar Syndrome	Short first metatarsal, Mandibular prognathia, Short distal phalanx of toe, Natal tooth, Thick ve...	OMIM:601957
Specific Granule Deficiency 2	Amelogenesis imperfecta, Osteopenia, Sepsis, Recurrent otitis media, Sandal gap, Conical tooth, T...	OMIM:617475
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Cleft palate, Abnormal mandible morphology, Natal tooth, Arthrogryposis multiplex congenita	OMIM:217150
Pseudohypoparathyroidism, Type Ic	Short metatarsal, Delayed eruption of teeth, Short metacarpal, Osteoporosis, Enamel hypoplasia, B...	OMIM:612462
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Dental malocclusion, Widely spaced teeth, Malar flattening	OMIM:616108
Hereditary Sensory And Autonomic Neuropathy Type 2	Reduced bone mineral density, Abnormal cortical bone morphology, Abnormal hip bone morphology, Ab...	ORPHA:970
Fanconi-Bickel Syndrome	Rickets, Hypertriglyceridemia, Osteopenia, Generalized aminoaciduria, Renal tubular acidosis, Hyp...	ORPHA:2088
Seckel Syndrome 5	Retrognathia, Clinodactyly of the 5th finger, Oligodontia, Selective tooth agenesis, High palate,...	OMIM:613823
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Supernumerary tooth, Short finger, Cone-shaped epiphyses of the middle phalanges of t...	OMIM:190351
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Weismann-Netter Syndrome	Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal cortic...	ORPHA:3344
Osteogenesis Imperfecta, Type X	Osteopenia, Genu valgum, Fibular bowing, Inguinal hernia, Tibial bowing, Bowing of the long bones...	OMIM:613848
Hypophosphatemic Rickets And Hyperparathyroidism	Rickets, Elevated circulating parathyroid hormone level, Hypophosphatemic rickets, Renal phosphat...	OMIM:612089
Hypodontia-Dysplasia Of Nails Syndrome	Conical tooth, Delayed eruption of teeth, Everted lower lip vermilion, Abnormality of the dentiti...	ORPHA:2228
Renal Tubular Acidosis, Proximal	Rickets, Hypercalciuria, Proximal renal tubular acidosis, Osteomalacia, Elevated circulating crea...	OMIM:179830
Taurodontism	Taurodontia	OMIM:272700
Rubinstein-Taybi Syndrome 2	Narrow palate, Retrognathia, Short 5th toe, Short first metatarsal, Increased overbite, Prominent...	OMIM:613684
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Conical incisor, Carious teeth, Enamel hypoplasia, Onychomycosis	OMIM:614564
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:204700
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hypophosphatemic rickets, Genu valgum, Hypoplasia of teeth, Carious teeth, Coxa valga, Genu varum	OMIM:613312
Endosteal Hyperostosis, Worth Type	Diaphyseal undertubulation, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial...	ORPHA:2790
Tooth Agenesis, Selective, 3	Agenesis of permanent molar, Oligodontia, Oligodontia of primary teeth, Microdontia	OMIM:604625
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Cam...	ORPHA:88630
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic seizures, Calvarial osteosclerosis, Congenital hypoparathyroidism, Hypocalcemia, Del...	ORPHA:93324
Spondyloepiphyseal Dysplasia, Nishimura Type	Elevated circulating parathyroid hormone level, Cone-shaped epiphyses of the phalanges of the han...	OMIM:618618
Catifa Syndrome	Inguinal hernia, Delayed eruption of teeth, Tooth malposition, Increased overbite, Camptodactyly,...	OMIM:618761
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets, Elevated circulating hepatic transaminase concentration, Hypouricemia, Glycosuria, Hyper...	OMIM:616026
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Intellectual Disability And Myopathy Syndrome	Limited elbow extension, Incisor macrodontia, Congenital hip dislocation, Achilles tendon contrac...	OMIM:619719
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorp...	OMIM:600740
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hypoparathyroidism, Clinodactyly of the 5th finger, Clubbing of fingers, Metaphyseal ...	OMIM:156400
Fanconi Renotubular Syndrome 3	Rickets, Low-molecular-weight proteinuria, Renal insufficiency, Glycosuria, Hyperphosphaturia, El...	OMIM:615605
Cystinosis	Rickets, Delayed puberty, Hypokalemia, Nephropathy, Portal hypertension, Nephrogenic diabetes ins...	ORPHA:213
Ectodermal Dysplasia/Short Stature Syndrome	Hypodontia, Enamel hypoplasia, Delayed eruption of teeth	OMIM:616029
Auriculocondylar Syndrome 1	Anterior open-bite malocclusion, Dental crowding, Mandibular condyle hypoplasia, Glossoptosis, Na...	OMIM:602483
Pseudohypoparathyroidism Type 1B	Diaphyseal sclerosis, Increased bone mineral density, Delayed eruption of teeth, Cortical subperi...	ORPHA:94089
Osteosclerotic Metaphyseal Dysplasia	Clavicular sclerosis, Increased bone mineral density, Metaphyseal dysplasia, Dense metaphyseal ba...	OMIM:615198
Brachydactyly, Type E2	Short metatarsal, Delayed eruption of teeth, Oligodontia, Short metacarpal, Brachydactyly	OMIM:613382
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets, Isothenuria, Hypokalemia, Distal renal tubular acidosis, Reticulocytosis, Nephrocalcinos...	OMIM:611590
Oculoskeletodental Syndrome	Retrognathia, Oligodontia, Abnormality of the dentition, Microdontia, Enamel hypoplasia, Hypoplas...	ORPHA:557003
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Carious teeth	OMIM:615887
Metaphyseal Dysplasia, Braun-Tinschert Type	Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop...	ORPHA:85188
Cleidocranial Dysplasia	Glossoptosis, Decreased skull ossification, Sinusitis, Abnormal epiphysis morphology, Abnormal me...	ORPHA:1452
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Bicoronal synostosis, Dental crowding, Oligodontia, Short long bone, Tracheobronchomalacia, Joint...	OMIM:619184
Tricho-Retino-Dento-Digital Syndrome	Supernumerary tooth, Oligodontia, Abnormality of the dentition, Brachydactyly, Short 5th metacarpal	ORPHA:1264
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Tarsal synostosis, Flat capital femoral epiphysis, Patellar hypoplasia, Sandal gap, Coxa vara, Mi...	OMIM:147891
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Sandal gap, Conical tooth, Scarring alopecia of scalp, Oligodontia, Microdontia, Persistence of p...	OMIM:618727
Hip Dysplasia, Beukes Type	Abnormal bone ossification, Abnormality of bone mineral density, Hip dysplasia, Coxa vara, Broad ...	ORPHA:2114
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar	OMIM:114700
Dysosteosclerosis	Abnormal metaphysis morphology, Craniofacial hyperostosis, Delayed eruption of teeth, Increased b...	ORPHA:1782
Anonychia With Flexural Pigmentation	Carious teeth	ORPHA:69125
Braddock-Carey Syndrome 1	Everted lower lip vermilion, Camptodactyly, Enamel hypoplasia, Pierre-Robin sequence, Cleft palat...	OMIM:619980
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets, Hypokalemia, Hypercalciuria, Nephrocalcinosis, Distal renal tubular acidosis	OMIM:602722
Mccune-Albright Syndrome	Abnormal femur morphology, Bone marrow hypocellularity, Hypophosphatemia, Monostotic fibrous dysp...	ORPHA:562
Cranioectodermal Dysplasia 4	Thin vermilion border, Broad distal phalanx of finger, Broad phalanx of the toes, Cutaneous finge...	OMIM:614378
48,Xxyy Syndrome	Thick lower lip vermilion, Clinodactyly of the 5th finger, Abnormal shoulder morphology, Broad ja...	ORPHA:10
Pycnodysostosis	Hypoplastic iliac wing, Joint hypermobility, Delayed eruption of primary teeth, Short finger, Inc...	ORPHA:763
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Snijders Blok-Campeau Syndrome	Widely spaced teeth, Inguinal hernia, High palate, Enamel hypoplasia, Umbilical hernia, Joint hyp...	OMIM:618205
Epiphyseal Chondrodysplasia, Miura Type	Osteopenia, Elevated alkaline phosphatase of bone origin, Epiphyseal dysplasia, Arachnodactyly, L...	OMIM:615923
Epiphyseal Dysplasia, Multiple, 7	Monkey wrench femoral neck, Flat acetabular roof, Epiphyseal dysplasia, Hypoplasia of the capital...	OMIM:617719
Fibular Hemimelia	Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog...	ORPHA:93323
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormal dental morphology, Hypoplasia of teeth, Premature loss of primary teeth	ORPHA:248
Mcdonough Syndrome	Abnormal palate morphology, Short philtrum, Mandibular prognathia, Open bite, Micrognathia, Denta...	ORPHA:2471
Trichorhinophalangeal Syndrome, Type I	Short metacarpal, Microdontia, Cone-shaped epiphyses of the proximal phalanges of the hand, Long ...	OMIM:190350
Amelogenesis Imperfecta, Type Iiic	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:612529
Blepharophimosis-Impaired Intellectual Development Syndrome	Widely spaced teeth, Clinodactyly of the 5th finger, Short philtrum, Recurrent urinary tract infe...	OMIM:619293
Larsen-Like Syndrome	Recurrent otitis media, Clinodactyly of the 5th finger, Wide anterior fontanel, Radial deviation ...	OMIM:608545
Craniometadiaphyseal Dysplasia	Osteopenia, Genu valgum, Flared metaphysis, Dental crowding, Mandibular prognathia, Wide anterior...	OMIM:269300
Frank-Ter Haar Syndrome	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Short philtrum, Delayed eruption ...	ORPHA:137834
Seckel Syndrome 1	Clinodactyly of the 5th finger, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, D...	OMIM:210600
Tyrosinemia Type 1	Acute hepatic failure, Splenomegaly, Rickets of the lower limbs, Generalized aminoaciduria	ORPHA:882
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Renal phosphate wasting, Nephrolithiasis, Osteoporosis, Hyperphosphaturia, Hypophosph...	OMIM:612287
Albers-Schönberg Osteopetrosis	Abnormal metaphysis morphology, Genu valgum, Anemia, Abnormal metacarpal morphology, Joint disloc...	ORPHA:53
Intellectual Disability, Buenos-Aires Type	Reduced bone mineral density, Clinodactyly of the 5th finger, Mandibular prognathia, Open bite, H...	ORPHA:3079
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Renal phosphate wasting, Hypercalciuria, Nephrolithiasis, Osteoporosis, Hyperphosphat...	OMIM:612286
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Enamel hypoplasia, Carious teeth, Scarring alopecia of scalp	OMIM:612843
Naegeli-Franceschetti-Jadassohn Syndrome	Supernumerary tooth, Yellow-brown discoloration of the teeth, Premature loss of teeth, Abnormalit...	ORPHA:69087
Craniometaphyseal Dysplasia, Autosomal Recessive	Flared metaphysis, Broad alveolar ridges, Mandibular prognathia, Club-shaped distal femur, Facial...	OMIM:218400
Neuronal Intestinal Pseudoobstruction	Congenital diaphragmatic hernia, Natal tooth, Recurrent infections	ORPHA:99811
Linear Verrucous Nevus Syndrome	Abnormality of the kidney, Reduced bone mineral density, Genu recurvatum, Short metacarpal, Hypop...	ORPHA:2611
Steatocystoma Multiplex	Natal tooth	OMIM:184500
Kenny-Caffey Syndrome, Type 1	Calvarial osteosclerosis, Slender long bone, Recurrent bacterial infections, Decreased skull ossi...	OMIM:244460
Aredyld Syndrome	Lipoatrophy, Advanced eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morpho...	ORPHA:1133
Orofaciodigital Syndrome Type 5	Supernumerary tooth, High, narrow palate, Absent cupid's bow, Agenesis of canine, Cleft soft pala...	ORPHA:2919
Hypophosphatasia, Childhood	Carious teeth, Premature loss of primary teeth, Bowing of the legs, Craniosynostosis	OMIM:241510
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem...	ORPHA:3329
Congenital Bile Acid Synthesis Defect Type 2	Rickets, Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepatitis,...	ORPHA:79303
Andersen Cardiodysrhythmic Periodic Paralysis	Short mandibular rami, Clinodactyly of the 5th toe, Dental crowding, Short metacarpal, Prominent ...	OMIM:170390
Flynn-Aird Syndrome	Increased bone mineral density, Osteoporosis, Joint stiffness, Carious teeth, Increased bone dens...	OMIM:136300
Eiken Syndrome	Eruption failure, Delayed ossification of carpal bones, Flat acetabular roof, Broad metatarsal, M...	OMIM:600002
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly	ORPHA:2266
Momo Syndrome	Abnormal bone ossification, Thick lower lip vermilion, Delayed eruption of teeth, Femoral bowing,...	ORPHA:2563
Bent Bone Dysplasia Syndrome 1	Hypoplastic pubic bone, Short clavicles, Gingival overgrowth, Coronal craniosynostosis, Decreased...	OMIM:614592
Scarf Syndrome	Inguinal hernia, Joint hypermobility, Enamel hypoplasia, Short sternum, Umbilical hernia, Long ph...	ORPHA:3134
Osteoglosphonic Dysplasia	Abnormal bone ossification, Inguinal hernia, Tooth agenesis, Multiple unerupted teeth, Micrognath...	ORPHA:2645
Pycnodysostosis	Narrow palate, Increased bone mineral density, Absent frontal sinuses, Narrow iliac wing, Osteoly...	OMIM:265800
Refractory Celiac Disease	Normocytic anemia, Elevated alkaline phosphatase of bone origin, Elevated circulating hepatic tra...	ORPHA:398063
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Retrognathia, Hypoplastic iliac wing, Tibial bowing, Microdontia, Short distal phalanx of finger,...	OMIM:210720
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Hypodontia, Shagreen patch, Delayed eruption of teeth	ORPHA:1816
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Mandibular prognathia, Open bite, High palate, Narrow mouth, Camptodactyly of fing...	ORPHA:1327
Oncogenic Osteomalacia	Abnormal fibula morphology, Abnormal femur morphology, Elevated circulating alkaline phosphatase ...	ORPHA:352540
Hamamy Syndrome	Everted lower lip vermilion, Wide mouth, Syndactyly, Long philtrum, Craniosynostosis, Long toe, I...	OMIM:611174
Lacrimoauriculodentodigital Syndrome 3	Widely spaced teeth, Enamel hypoplasia, Carious teeth, Partial duplication of thumb phalanx, Shor...	OMIM:620193
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth	OMIM:183300
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Subperiosteal bone formation, Hyperostosis, Enamel hypoplasia, Pulp calcification, Taurodontia	OMIM:211900
Pili Torti	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:2889
Familial Expansile Osteolysis	Bowing of the long bones, Hydroxyprolinuria, Osteolysis, Pathologic fracture, Elevated circulatin...	OMIM:174810
Osteogenesis Imperfecta, Type Vii	Osteopenia, Crumpled long bones, Femoral retroversion, Wide anterior fontanel, Coxa vara, Decreas...	OMIM:610682
Cockayne Syndrome Type 2	Scarring, Hypoplasia of the primary teeth, Mandibular prognathia, Enamel hypoplasia, Flexion cont...	ORPHA:90322
Amelo-Onycho-Hypohidrotic Syndrome	Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A...	ORPHA:1028
Hypomagnesemia 3, Renal	Short metacarpal, Nephrocalcinosis, Macroscopic hematuria, Bowing of the legs, Elevated circulati...	OMIM:248250
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Enamel hypoplasia, Atrophic scars, Arthrogryposis multiplex congenita, Oral mucosal blisters	OMIM:226730
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Abnormal palate morphology, Carious teeth, Abnormality of the dentition, Radioulnar synostosis	ORPHA:3270
Myopathy, Myofibrillar, 8	Recurrent lower respiratory tract infections, Joint contracture of the 5th finger, Distal joint h...	OMIM:617258
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Rocker bottom foot, Clinodactyly of the 5th finger, Exaggerated cupid's bow, Wide mouth, Thick ve...	OMIM:618506
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormal cortical bone morphology, Increased bone mineral density, Splenomegaly, Abnormality of t...	ORPHA:2204
Cranio-Osteoarthropathy	Abnormal tibia morphology, Abnormal cortical bone morphology, Arthritis, Joint stiffness, Deviati...	ORPHA:1525
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Micrognathia, Malar flattening, Brachydactyly, Dental malocclusion, Diastema	ORPHA:436245
Trichorhinophalangeal Syndrome Type 2	Abnormal palate morphology, Supernumerary tooth, Genu valgum, Joint hypermobility, Cone-shaped ep...	ORPHA:502
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Broad alveolar ridges, Abnormality of the philtrum, High palate, Tooth...	ORPHA:2863
Teebi Hypertelorism Syndrome 2	Clinodactyly of the 5th finger, Delayed eruption of teeth, Wide anterior fontanel, High palate, E...	OMIM:619736
Acrofacial Dysostosis, Weyers Type	Advanced eruption of teeth, Solitary median maxillary central incisor, Clinodactyly of the 5th fi...	ORPHA:952
Craniodiaphyseal Dysplasia, Autosomal Dominant	Elevated circulating parathyroid hormone level, Craniofacial hyperostosis, Diaphyseal sclerosis, ...	OMIM:122860
Melnick-Needles Syndrome	Abnormal metaphysis morphology, Abnormal cortical bone morphology, Osteolytic defects of the phal...	ORPHA:2484
Osteopetrosis, Autosomal Recessive 1	Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Anemia, Flared metaphysis, Increased bon...	OMIM:259700
Hypercholanemia, Familial 1	Rickets, Increased serum bile acid concentration	OMIM:607748
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Flared femoral metaphysis, Genu valgum, Flat distal femoral epiphysis, Arthralgia of the hip, Cox...	OMIM:609324
Cleidocranial Dysplasia 1	Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic ...	OMIM:119600
Brachydactyly, Type B1	Joint contracture of the hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Wide anter...	OMIM:113000
Failure Of Tooth Eruption, Primary	Hypodontia, Failure of eruption of permanent teeth, Persistence of primary teeth	OMIM:125350
Dermatosparaxis Ehlers-Danlos Syndrome	Rickets, Osteopenia, Joint dislocation, Osteomalacia, Osteoporosis, Coxa vara, Joint stiffness, A...	ORPHA:1901
X-Linked Hypohidrotic Ectodermal Dysplasia	Everted upper lip vermilion, Delayed eruption of teeth, Everted lower lip vermilion, Microdontia,...	ORPHA:181
Gigantiform Cementoma, Familial	Multiple impacted teeth, Cementoma, Tooth malposition	OMIM:137575
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Clinodactyly of the 5th finger, Sandal gap, Spina bifida occulta, Anterior open-bite ...	OMIM:617877
Mucopolysaccharidosis Type 4	Abnormal metaphysis morphology, Grayish enamel, Reduced bone mineral density, Genu valgum, Abnorm...	ORPHA:582
Pili Torti, Early-Onset	Enamel hypoplasia	OMIM:261900
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Recurrent respiratory infections, High palate, Micrognathia, Dental malocclusion, Con...	ORPHA:329178
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Amelogenesis imperfecta, Hypodontia, Delayed eruption of teeth	OMIM:615905
Hall-Riggs Syndrome	Abnormal metaphysis morphology, Delayed eruption of teeth, Abnormal dental enamel morphology, Joi...	ORPHA:2107
Trisomy 4P	Abnormal palate morphology, Radial club hand, Abnormality of the dentition, Carious teeth, Campto...	ORPHA:1738
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Genu valgum, Tubulointerstitial fibrosis, Glycosuria, Hypophosphatemia,...	OMIM:618913
Jalili Syndrome	Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color	ORPHA:1873
Vascular Malformation, Primary Intraosseous	Gingival bleeding, Ectopic tooth eruption, Umbilical hernia	OMIM:606893
Naegeli-Franceschetti-Jadassohn Syndrome	Premature loss of teeth, Carious teeth	OMIM:161000
Nance-Horan Syndrome	Supernumerary tooth, Mandibular prognathia, Short metacarpal, Abnormality of the dentition	ORPHA:627
Heimler Syndrome 2	Amelogenesis imperfecta, Dental crowding	OMIM:616617
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Broad thumb, Wide mouth, Umbilical hernia, Short distal phalanx of finger, Long ...	OMIM:616331
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Van Der Woude Syndrome 2	Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit	OMIM:606713
Epiphyseal Dysplasia, Multiple, 1	Genu valgum, Irregular epiphyses, Hip osteoarthritis, Small epiphyses, Delayed epiphyseal ossific...	OMIM:132400
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal dental enamel morphology, Abnormal palate morphology, Clinodactyly of the 5th finger, Ab...	ORPHA:3236
Pseudohypoaldosteronism Type 2	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:757
Osteopetrosis, Autosomal Recessive 2	Cranial hyperostosis, Osteopetrosis, Genu valgum, Diaphyseal sclerosis, Recurrent fractures, Mand...	OMIM:259710
Usher Syndrome Type 1	Abnormal dental enamel morphology	ORPHA:231169
Metaphyseal Anadysplasia 2	Micromelia, Metaphyseal widening, Short femoral neck, Metaphyseal irregularity, Bowing of the leg...	OMIM:613073
Frontometaphyseal Dysplasia 1	Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co...	OMIM:305620
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Bilateral cleft palate, High palate, Bilateral cleft lip, Ankyloglossia, Enamel hypoplasia, Malar...	OMIM:618874
Hypothyroidism, Congenital, Nongoitrous, 6	Omphalocele, Macroglossia, Congenital hip dislocation, Delayed eruption of teeth	OMIM:614450
Amelocerebrohypohidrotic Syndrome	Amelogenesis imperfecta, Abnormal dental enamel morphology, Yellow-brown discoloration of the tee...	ORPHA:1946
Dysostosis, Stanescu Type	Abnormal metaphysis morphology, Abnormal palate morphology, Increased bone mineral density, Abnor...	ORPHA:1798
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Hypocalcemic seizures, Hypocalciuria, Hypomagnesiuria, Reduced ratio of renal ca...	ORPHA:405
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Rickets, Jaundice, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Con...	OMIM:211600
Craniosynostosis 2	Supernumerary tooth, Triphalangeal thumb, Cleft soft palate, Unicoronal synostosis, Bicoronal syn...	OMIM:604757
Dental Anomalies And Short Stature	Amelogenesis imperfecta, Widely spaced teeth, Mandibular prognathia, Oligodontia, Microdontia, Hy...	OMIM:601216
Branchioskeletogenital Syndrome	Thin vermilion border, Short philtrum, Rootless teeth, Premature loss of teeth, Abnormal dentin m...	ORPHA:1299
Craniolenticulosutural Dysplasia	Thin vermilion border, Delayed eruption of teeth, Premature loss of teeth, High palate, Decreased...	ORPHA:50814
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Restricted large joint movement, Small epiphyses, Flared metaphysis, Hypoplastic pubic bone, Dela...	ORPHA:93346
Bile Acid Synthesis Defect, Congenital, 1	Rickets, Intrahepatic cholestasis, Jaundice, Elevated circulating hepatic transaminase concentrat...	OMIM:607765
48,Xxxy Syndrome	Clinodactyly of the 5th finger, Inguinal hernia, Delayed eruption of teeth, Abnormal dental ename...	ORPHA:96263
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ...	OMIM:607778
Three M Syndrome 2	Delayed eruption of teeth, Slender long bone, High palate, Prominent calcaneus, Thick vermilion b...	OMIM:612921
Primary Fanconi Renotubular Syndrome	Generalized aminoaciduria, Abnormal urine pH, Bicarbonate-wasting renal tubular acidosis, Hypopho...	ORPHA:3337
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Decreased response to growth hormone stimulation test, Hypospadias, Hypercalciuria, A...	OMIM:614732
Epiphyseal Dysplasia, Multiple, 4	Flat capital femoral epiphysis, Talipes equinovarus, Short metacarpal, Hypoplasia of the femoral ...	OMIM:226900
Laron Syndrome	Delayed eruption of teeth, Microdontia, Tooth agenesis, Micrognathia, Short toe, Osteoarthritis, ...	ORPHA:633
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Abnormal renal collecting system morphology, Clinodactyly of the 5th finger, 2-3 toe ...	OMIM:616809
Acrootoocular Syndrome	Supernumerary tooth, Grayish enamel, High, narrow palate, Short finger, Dental malocclusion, Dela...	ORPHA:2980
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis, Dense metaphyseal bands, Erlenmeyer flask deformity of the femurs, Cortical sclero...	OMIM:611497
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Carious teeth, Velopharyngeal insufficiency, Micrognathia, De...	OMIM:613680
Temple-Baraitser Syndrome	Everted upper lip vermilion, Delayed eruption of teeth, Triangular shaped distal phalanx of the t...	ORPHA:420561
Codas Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Short metacarpal, Abnormal pelvic g...	ORPHA:1458
Acrofacial Dysostosis, Palagonia Type	Supernumerary tooth, High, narrow palate, Short 4th metacarpal, Spina bifida occulta, Finger synd...	ORPHA:1787
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Femoral bowing, Tibial bowing, Cortical thickening of long bone d...	OMIM:166740
Eem Syndrome	Widely spaced teeth, Finger syndactyly, Selective tooth agenesis, Ectrodactyly, Microdontia, Abno...	ORPHA:1897
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Hypodontia, Cranial hyperostosis, Oligodontia, Natal tooth	OMIM:601345
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Thick lower lip vermilion, Widely spaced teeth, Delayed eruption of teeth, Hyperextensibility of ...	OMIM:619797
Oculodentodigital Dysplasia, Autosomal Recessive	Thin vermilion border, Hypoplasia of the primary teeth, 2-4 toe cutaneous syndactyly, Delayed eru...	OMIM:257850
Cerebrooculofacioskeletal Syndrome 1	Rocker bottom foot, Thin vermilion border, Second metatarsal posteriorly placed, Delayed eruption...	OMIM:214150
Trichorhinophalangeal Syndrome Type 1	Supernumerary tooth, Clinodactyly of the 5th finger, Short metatarsal, Long upper lip, High palat...	ORPHA:77258
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Atrophic scars, Narrow mouth, Corneal scarring, Enamel hypoplasia, Flexion contracture, Oral muco...	OMIM:226600
Nance-Horan Syndrome	Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incisors, Short phalanx of fing...	OMIM:302350
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Supernumerary tooth, Chronic mucocutaneous candidiasis, High palate, Persistence of primary teeth...	OMIM:619752
Distal Renal Tubular Acidosis	Rickets, Low-molecular-weight proteinuria, Reduced bone mineral density, Hypocitraturia, Decrease...	ORPHA:18
Rapp-Hodgkin Syndrome	2-3 toe cutaneous syndactyly, Recurrent otitis media, Conical tooth, Narrow mouth, Microdontia, H...	OMIM:129400
Sclerosteosis 1	Tooth malposition, Mandibular prognathia, Abnormal pelvic girdle bone morphology, Deviation of fi...	OMIM:269500
Oculodentodigital Dysplasia	Vertebral hyperostosis, Joint contracture of the 5th finger, Broad alveolar ridges, Premature los...	OMIM:164200
Momo Syndrome	Thick lower lip vermilion, Delayed eruption of teeth, High palate, Short sternum, Smooth philtrum...	OMIM:157980
Cole-Carpenter Syndrome	Abnormal metaphysis morphology, Crumpled long bones, Delayed eruption of teeth, Abnormal dental e...	ORPHA:2050
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Dental crowding, High palate, Wide mouth, Long philtrum, Tapered finger	OMIM:618825
Potocki-Lupski Syndrome	Dental crowding, Mandibular prognathia, High palate, Micrognathia, Wide mouth, Smooth philtrum, D...	OMIM:610883
Raine Syndrome	Subperiosteal bone formation, Increased bone mineral density, Gingival overgrowth, Mandibular pro...	OMIM:259775
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Microdontia, Arachnodactyly, Slender long bones with narrow diaphyses, Dentinogenesis imperfecta,...	ORPHA:536467
Sjögren-Larsson Syndrome	Joint stiffness, Abnormal dental enamel morphology	ORPHA:816
Hyperparathyroidism 4	Osteopenia, Parathyroid carcinoma, Nephrolithiasis, Primary hyperparathyroidism, Hypercalcemia	OMIM:617343
Lessel-Kreienkamp Syndrome	Dental malocclusion, Clinodactyly of the 5th finger, Thin upper lip vermilion, Open mouth	OMIM:619149
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Anemia, Bone cyst, Hypercalcemia, Proteinuria, Renal insufficiency, Hyperparathyr...	ORPHA:2668
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Elevated circulating alkaline phosphatase c...	OMIM:239100
Bone Marrow Failure Syndrome 3	Amelogenesis imperfecta, Reduced bone mineral density, Recurrent infections, Oral ulcer, Microdon...	OMIM:617052
49,Xxxxy Syndrome	Clinodactyly of the 5th finger, Delayed eruption of teeth, Abnormal dental enamel morphology, Man...	ORPHA:96264
Codas Syndrome	Genu valgum, Proximal placement of thumb, Delayed eruption of teeth, Delayed ossification of carp...	OMIM:600373
Harrod Syndrome	Abnormal shoulder morphology, Narrow mouth, High palate, Abnormal pelvic girdle bone morphology, ...	ORPHA:2115
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Rickets, Polyuria, Proximal tubulopathy, Osteoporosis, Type I diabetes mellitus	OMIM:560000
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal foot morphology, Aplasia/hypoplasia in...	ORPHA:75508
Autoimmune Hypoparathyroidism	Hypocalcemic seizures, Increased bone mineral density, Hypocalcemia, Autoimmune hypoparathyroidis...	ORPHA:36913
Osteopetrosis, Autosomal Recessive 3	Cranial hyperostosis, Osteopetrosis, Dental malocclusion, Diaphyseal sclerosis	OMIM:259730
Self-Improving Dystrophic Epidermolysis Bullosa	Carious teeth, Atrophic scars, Oral mucosal blisters	ORPHA:79411
Ohdo Syndrome	Thin vermilion border, Widely spaced teeth, Clinodactyly of the 5th finger, Narrow mouth, Hypopla...	OMIM:249620
Dent Disease 2	Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Elevated circulating crea...	OMIM:300555
Odontomicronychial Dysplasia	Premature loss of primary teeth, Premature eruption of permanent teeth, Carious teeth, Abnormalit...	ORPHA:1811
Scarf Syndrome	Lambdoidal craniosynostosis, Inguinal hernia, Coronal craniosynostosis, Enamel hypoplasia, Short ...	OMIM:312830
Myopathy, Centronuclear, X-Linked	High palate, Arachnodactyly, Flexion contracture, Dental malocclusion, Slender toe	OMIM:310400
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Camptodactyly, Micrognathia, Malar flattening, Dental malocclusion, Joint contracture of the hand	OMIM:608257
Fanconi Anemia, Complementation Group S	Narrow palate, Proximal placement of thumb, Thick upper lip vermilion, Dental malocclusion, Clino...	OMIM:617883
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short distal phalanx of toe, Narrow mouth, Microdontia, Bilateral triphalangeal thumbs, Micrognat...	OMIM:619356
Zimmermann-Laband Syndrome	Supernumerary tooth, Gingival fibromatosis, Anterior open-bite malocclusion, High palate, Overtub...	ORPHA:3473
Osteopetrosis, Autosomal Recessive 9	Hyperkalemia, Osteopetrosis, Stage 3 chronic kidney disease, Anemia, Increased bone mineral densi...	OMIM:620366
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Short clavicles, Gingival overgrowth, Steep acetabular roof, Hypoplastic ischia, Coro...	ORPHA:313855
Chst3-Related Skeletal Dysplasia	Genu valgum, Irregular epiphyses, Small epiphyses, Delayed eruption of teeth, Short metacarpal, F...	ORPHA:263463
Paget Disease Of Bone 4	Elevated circulating alkaline phosphatase concentration, Osteolysis	OMIM:606263
Congenital Disorder Of Glycosylation, Type Iil	Retrognathia, Recurrent infections, Postaxial polydactyly, Enamel hypoplasia, Hip dysplasia	OMIM:614576
Dysosteosclerosis	Broad femoral neck, Absent paranasal sinuses, Clavicular sclerosis, Abnormal metaphyseal trabecul...	OMIM:224300
Grant Syndrome	Abnormal cortical bone morphology, Joint dislocation, Wormian bones, Decreased skull ossification...	ORPHA:2097
Mucopolysaccharidosis, Type Iva	Grayish enamel, Widely spaced teeth, Genu valgum, Inguinal hernia, Mandibular prognathia, Osteopo...	OMIM:253000
Faciocardiomelic Syndrome	Osteopenia, Polydactyly, Hyperplasia of the maxilla, Slender long bone, Hypoplastic pelvis, Micro...	OMIM:612731
Coffin-Siris Syndrome 3	Inguinal hernia, Central diaphragmatic hernia, Joint hypermobility, Recurrent infections, High pa...	OMIM:614608
Infantile Systemic Hyalinosis	Osteopenia, Abnormality of the adrenal glands, Osteoporosis, Joint stiffness, Camptodactyly of fi...	ORPHA:2176
Familial Isolated Hypoparathyroidism	Abnormal dental enamel morphology, Delayed eruption of teeth	ORPHA:2238
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Orofaciodigital Syndrome Iii	Supernumerary tooth, Postaxial hand polydactyly, Microdontia, Short sternum, Bifid uvula, Tongue ...	OMIM:258850
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Synostosis of carpal bones, Short palm, Failure of erupti...	ORPHA:3238
Spondylometaphyseal Dysplasia, Pagnamenta Type	Short 4th metacarpal, Rhizomelia, Femoral bowing, Broad thumb, Pes planus, Short 5th metacarpal, ...	OMIM:619638
Metatropic Dysplasia	Abnormal metaphysis morphology, Abnormal cortical bone morphology, Clinodactyly of the 5th finger...	ORPHA:2635
Seckel Syndrome	Clinodactyly of the 5th finger, Sandal gap, Abnormal dental enamel morphology, Tooth agenesis, Mi...	ORPHA:808
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Retrognathia, Abnormal palate morphology, Clinodactyly of the 5th finger, Carious teeth, Malar fl...	ORPHA:1390
Marbach-Rustad Progeroid Syndrome	Femur fracture, Reduced bone mineral density, Short clavicles, Eruption failure, Narrow mouth, Re...	OMIM:619322
Pseudoachondroplasia	Short long bone, Flat acetabular roof, Increased laxity of ankles, Hypoplastic pelvis, Joint stif...	ORPHA:750
Osteosarcoma	Abnormal metaphysis morphology, Abnormal circulating lactate dehydrogenase concentration, Abnorma...	ORPHA:668
Mandibuloacral Dysplasia With Type B Lipodystrophy	Decreased adipose tissue around neck, Generalized lipodystrophy, Loss of facial adipose tissue, L...	OMIM:608612
Acrodysostosis	Abnormal femur morphology, Short metacarpal, Cone-shaped epiphysis, Genu varum, Coxa valga, Hypop...	ORPHA:950
Wilson Disease	Acute hepatic failure, Splenomegaly, High nonceruloplasmin-bound serum copper, Joint hypermobilit...	OMIM:277900
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hypodontia, Abnormal dental enamel morphology, Oligodontia, Scarring alopecia of scalp	ORPHA:59303
Nail-Patella Syndrome	Reduced bone mineral density, Abnormal femur morphology, Dislocated radial head, Contracture of t...	ORPHA:2614
Gracile Bone Dysplasia	Flared metaphysis, Hypocalcemia, Slender long bone, Thin ribs, Decreased skull ossification, Aspl...	OMIM:602361
Char Syndrome	Clinodactyly of the 5th finger, Short philtrum, Triangular mouth, Symphalangism of the 5th finger...	ORPHA:46627
Dermatitis Herpetiformis	Dental enamel pits, Erosion of oral mucosa, Recurrent fractures, Delayed eruption of teeth	ORPHA:1656
Caffey Disease	Periosteal thickening of long tubular bones, Calvarial hyperostosis, Cortical irregularity, Corti...	ORPHA:1310
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Femoral bowing, Osteoporosis, Carious teeth, Recurrent fractures	OMIM:126550
Progeria-Short Stature-Pigmented Nevi Syndrome	Fragile teeth, Osteopenia, Selective tooth agenesis, Generalized osteoporosis, Short distal phala...	ORPHA:2959
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Mandibular condyle hypoplasia, Gloss...	ORPHA:137888
Brachydactyly, Type E1	Type E brachydactyly, Short metatarsal, Short clavicles, Short metacarpal, Brachydactyly, Multipl...	OMIM:113300
Den Hoed-De Boer-Voisin Syndrome	Amelogenesis imperfecta, Widely spaced teeth, Recurrent lower respiratory tract infections, Sanda...	OMIM:619229
Celiac Disease, Susceptibility To, 1	Rickets, Recurrent aphthous stomatitis, Stomatitis, Osteoporosis, Enamel hypoplasia	OMIM:212750
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Retrognathia, Thin lower lip vermilion, Recurrent urinary tract infections, Abnormality of the de...	ORPHA:363444
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Recurrent fractures, Elevated circulating alkaline phosphatase concentration, Increased spinal bo...	ORPHA:329475
Coffin-Siris Syndrome 2	Thick lower lip vermilion, Short philtrum, Delayed eruption of teeth, Sandal gap, Inguinal hernia...	OMIM:614607
Mucopolysaccharidosis, Type Ivb	Grayish enamel, Widely spaced teeth, Genu valgum, Inguinal hernia, Mandibular prognathia, Osteopo...	OMIM:253010
Brachycephaly, Trichomegaly, And Developmental Delay	Supernumerary tooth, Thin vermilion border, Thick lower lip vermilion, Prominent fingertip pads, ...	OMIM:617412
Van Maldergem Syndrome 1	Osteopenia, Short 4th metacarpal, Tracheomalacia, Short clavicles, Wide anterior fontanel, High p...	OMIM:601390
Acrodysostosis 1 With Or Without Hormone Resistance	Short metatarsal, Epiphyseal stippling, Delayed eruption of teeth, Cone-shaped epiphyses of the p...	OMIM:101800
Spondyloepimetaphyseal Dysplasia, Missouri Type	Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low...	ORPHA:93356
Oliver Syndrome	Clinodactyly of the 5th finger, Short philtrum, Mandibular prognathia, Prominent fingertip pads, ...	ORPHA:2920
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Abnormal dental enamel morphology, Mandibular prognathia, High palate, Malar flatteni...	ORPHA:2180
Osteopathia Striata-Cranial Sclerosis Syndrome	Abnormal metaphysis morphology, Retrognathia, High, narrow palate, Osteopetrosis, Spina bifida oc...	ORPHA:2780
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Hypocalcemic seizures, Congenital hypopara...	OMIM:241410
Aarskog-Scott Syndrome	Orofacial cleft, Clinodactyly of the 5th finger, Inguinal hernia, Delayed eruption of teeth, Fing...	ORPHA:915
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:245660
Mandibuloacral Dysplasia	Lipoatrophy, Abnormal tongue morphology, Dental crowding, Short clavicles, Osteolytic defects of ...	ORPHA:2457
Arthrogryposis, Distal, Type 12	Ankle flexion contracture, Clinodactyly of the 5th finger, Inguinal hernia, Tapered distal phalan...	OMIM:620545
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Reduced bone mineral density, Premature epimetaphyseal fusio...	ORPHA:85435
Pseudohypoparathyroidism Type 1C	Short 4th metacarpal, Short metatarsal, Delayed eruption of teeth, Increased bone mineral density...	ORPHA:79444
Lenz-Majewski Hyperostotic Dwarfism	Diaphyseal undertubulation, Inguinal hernia, Flared metaphysis, Knee flexion contracture, Hyperex...	OMIM:151050
Microcephalic Primordial Dwarfism, Montreal Type	Lipoatrophy, Abnormal palate morphology, Reduced bone mineral density, Open bite, Carious teeth, ...	ORPHA:2617
Localized Scleroderma	Abnormal facial skeleton morphology, Sclerosis of finger phalanx, Arthritis, Abnormal bone struct...	ORPHA:90289
Lowe Oculocerebrorenal Syndrome	Wrist swelling, Increased circulating lactate dehydrogenase concentration, Renal Fanconi syndrome...	OMIM:309000
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	High, narrow palate, Short philtrum, Delayed eruption of teeth, Macrodontia, Taurodontia	ORPHA:3214
Temtamy Syndrome	Dental crowding, Short 2nd toe, Hypoplasia of teeth, Micrognathia, Brachydactyly, Long philtrum, ...	OMIM:218340
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Osteopenia, Delayed eruption of teeth, Recurrent infections, Gingivitis, Abnormality of the denti...	ORPHA:2314
Craniolenticulosutural Dysplasia	Osteopenia, Joint hypermobility, Delayed eruption of teeth, Wide anterior fontanel, Narrow iliac ...	OMIM:607812
Orofaciodigital Syndrome Ii	Syndactyly, Metaphyseal irregularity, Accessory oral frenulum, Tongue nodules, Postaxial hand pol...	OMIM:252100
Cystinosis, Nephropathic	Delayed puberty, Generalized aminoaciduria, Primary hypothyroidism, Renal Fanconi syndrome, Hypop...	OMIM:219800
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Carious teeth, Clinodactyly, Down-sloping shoulders, Microretrognathia, Dental malocclusion, Tape...	OMIM:615560
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormal hip bone morphology, Dental crowding, Tibial bowing, Microdontia, Broad thumb, Prominent...	ORPHA:251028
Short Syndrome	Lipoatrophy, Radial deviation of finger, Inguinal hernia, Delayed eruption of teeth, Slender long...	OMIM:269880
Usher Syndrome Type 2	Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia	ORPHA:231178
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Dental crowding, High palate, Camptodactyly, Thick vermilion border, B...	OMIM:616354
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Elevated circ...	OMIM:619658
Tetrasomy 12P	Delayed eruption of teeth, Abnormal soft palate morphology, Everted lower lip vermilion, Downturn...	ORPHA:884
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Femoral bowing, Micromelia, Dumbbell-shaped long bone, Micrognathia, Metaphyseal wide...	ORPHA:440354
Cherubism	Narrow palate, Oligodontia, Jaw swelling, Dental malocclusion, Multiple impacted teeth, Alveolar ...	OMIM:118400
Anti-Glomerular Basement Membrane Disease	Arthritis, Persistence of primary teeth	ORPHA:375
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Enamel hypoplasia, Bifid uvula, Wide mouth, Abnormality of the dentition	OMIM:615802
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Retrognathia, Overjet, Thick lower lip vermilion, Short philtrum, Dental crowding, High palate, E...	OMIM:618342
Cerebellofaciodental Syndrome	Genu valgum, Clinodactyly of the 5th finger, Slender long bone, Tapered finger, Proximal femoral ...	OMIM:616202
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Reduced bone mineral density, Delayed ossification of carpal bones, Irregular acetabular roof, Me...	OMIM:617974
Spondylocarpotarsal Synostosis Syndrome	Limited elbow extension, Tarsal synostosis, Clinodactyly of the 5th finger, Inguinal hernia, Bowe...	OMIM:272460
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Camptodactyly of finger, Abnormal dental enamel morphology, Abnormality of the dentition, Taurodo...	ORPHA:3220
Infantile Nephropathic Cystinosis	Rickets, Low-molecular-weight proteinuria, Abnormality of thyroid physiology, Hypokalemia, Hyperp...	ORPHA:411629
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic...	OMIM:308990
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Transient hypophosphatemia, Abnormality of the medullary cavity of the long b...	OMIM:127000
Immunodeficiency 51	Chronic oral candidiasis, Recurrent otitis media, Recurrent Staphylococcus aureus infections, Rec...	OMIM:613953
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Narrow palate, Abnormal palate morphology, Abnormal fibula morphology, Abnormal femur morphology,...	ORPHA:2063
Acrocraniofacial Dysostosis	Advanced eruption of teeth, Genu valgum, Short 1st metacarpal, Abnormal hip bone morphology, Shor...	ORPHA:949
Jalili Syndrome	Yellow-brown discoloration of the teeth, Carious teeth, Enamel agenesis	OMIM:217080
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Polyuria, Elevated circulating parathyroid hormone level, Calvarial osteosclerosis, N...	OMIM:617994
Multicentric Osteolysis, Nodulosis, And Arthropathy	Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contracture, Broad metata...	OMIM:259600
Sinoatrial Node Dysfunction And Deafness	Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia	OMIM:614896
3M Syndrome	Rocker bottom foot, Hypoplasia of the ulna, Abnormal metaphysis morphology, Clinodactyly of the 5...	ORPHA:2616
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Enamel hypomineralization	ORPHA:494444
Malan Syndrome	Retrognathia, Advanced eruption of teeth, Gingival overgrowth, Mandibular prognathia, Narrow mout...	OMIM:614753
Sanjad-Sakati Syndrome	Thin vermilion border, Abnormal dental enamel morphology, Abnormality of the dentition, Patchy os...	ORPHA:2323
Cranioectodermal Dysplasia 1	Radial deviation of finger, Everted lower lip vermilion, Microdontia, Short humerus, Short distal...	OMIM:218330
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Clinodactyly of the 5th finger, Delayed eruption of teeth, Osteoporosis, Micrognathia, Clinodactyly	ORPHA:73272
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short...	OMIM:612447
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Short finger, Recurrent otitis media, Flared metaphysis, Metaphysea...	OMIM:608940
Oculodentodigital Dysplasia	Broad alveolar ridges, Tooth agenesis, Umbilical hernia, Clinodactyly, Taurodontia, Cranial hyper...	ORPHA:2710
Combined Immunodeficiency Due To Crac Channel Dysfunction	Amelogenesis imperfecta, Sepsis, Recurrent viral infections, Recurrent mycobacterial infections, ...	ORPHA:169090
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l...	ORPHA:174
Occipital Horn Syndrome	Large iliac wing, Absent tibia, Aplasia/hypoplasia of the humerus, Joint hypermobility, Aplastic ...	ORPHA:198
Pde4D Haploinsufficiency Syndrome	Short metacarpal, Broad metatarsal, Long philtrum, Joint hypermobility, Cone-shaped epiphysis, Sh...	ORPHA:439822
Van Maldergem Syndrome 2	Osteopenia, Short 4th metacarpal, Hip subluxation, Inguinal hernia, Tracheomalacia, Short clavicl...	OMIM:615546
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Hypophosphatemic rickets, Anemia, Proximal tubulopathy, Organic a...	OMIM:619743
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Micrognathia, Natal tooth, Sagittal craniosynostosis	OMIM:616901
Autosomal Recessive Primary Microcephaly	Vesicoureteral reflux, Abnormal cortical bone morphology, Unilateral renal agenesis	ORPHA:2512
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Thick lower lip vermilion, Abnormality of the dentition, Everted lower lip vermilion, Micrognathi...	ORPHA:85321
Developmental And Epileptic Encephalopathy 41	Flexion contracture, Delayed eruption of teeth	OMIM:617105
Thymic Neuroendocrine Tumor	Osteopenia, Neoplasm of the endocrine system, Mediastinal lymphadenopathy, Pancreatic islet cell ...	ORPHA:97289
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hypertension, Hepatosplenomegaly, Hyperechogenic ki...	OMIM:617610
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Ankle flexion contracture, Elevated circulating creatine kinase concentration	OMIM:615883
Acrofacial Dysostosis, Catania Type	Spina bifida occulta, Carious teeth, Micrognathia, Cleft palate, Short palm, Malar flattening, Br...	OMIM:101805
Smith-Magenis Syndrome	Clinodactyly of the 5th finger, Short philtrum, Mandibular prognathia, Joint stiffness, Cleft upp...	ORPHA:819
Gorham-Stout Disease	Osteopenia, Abnormal bone ossification, Abnormal femur morphology, Elevated alkaline phosphatase ...	ORPHA:73
Nestor-Guillermo Progeria Syndrome	Lipoatrophy, Thin vermilion border, Limited elbow movement, Dental malocclusion, Dental crowding,...	OMIM:614008
Hypophosphatasia, Infantile	Anemia, Unossified vertebral bodies, Metaphyseal cupping, Hypercalciuria, Short ribs, Elevated pl...	OMIM:241500
Hypercalcemia, Infantile, 2	Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Failure to thrive,...	OMIM:616963
Oculofaciocardiodental Syndrome	Abnormal palate morphology, Genu valgum, Solitary median maxillary central incisor, Hammertoe, Cl...	ORPHA:2712
Atrial Standstill	Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection...	ORPHA:1344
Mandibuloacral Dysplasia With Type A Lipodystrophy	Dental crowding, Joint stiffness, Short distal phalanx of finger, Coxa valga, Loss of subcutaneou...	OMIM:248370
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Thin vermilion border, Clinodactyly of the 2nd finger, Conical incisor, Maxillary lat...	ORPHA:73223
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Scarring, Sepsis, Smooth tongue, Recurrent infections, Atrophic scars, Enamel hypoplasia, Cranios...	ORPHA:79396
Rothmund-Thomson Syndrome	Osteopenia, Supernumerary tooth, Hypoplasia of the ulna, Reduced bone mineral density, Metaphysea...	ORPHA:2909
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures, Glycosuria, Stage 5 chronic kidney disease, Renal Fanconi syndrome	OMIM:268315
Kabuki Syndrome 2	Recurrent otitis media, Joint hypermobility, Short 5th finger, Prominent fingertip pads, High pal...	OMIM:300867
Camurati-Engelmann Disease, Type 2	Osteopenia, Delayed puberty, Hyperostosis, Hip contracture, Hypogonadism, Knee flexion contractur...	OMIM:606631
Lethal Congenital Contracture Syndrome Type 1	Abnormal cortical bone morphology, Abnormal hip bone morphology, Slender long bone, Limitation of...	ORPHA:1486
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Hydroxyprolinemia, Hyperuricemia, Increased bone mineral density, Hypercalciuria, Inc...	OMIM:239000
4H Leukodystrophy	Hypodontia, Abnormality of the dentition, Delayed eruption of teeth	ORPHA:289494
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Deviation of the 5th toe, Short philtrum, Dorsocervical fat pad, Oligodontia, Narrow mouth, Slend...	ORPHA:391408
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormal dental enamel morphology, Mandibular prognathia, Postaxi...	ORPHA:2916
Clark-Baraitser syndrome	Thick lower lip vermilion, Genu valgum, Prominent median palatal raphe, Exaggerated median tongue...	OMIM:300602
W Syndrome	Hypoplasia of the ulna, Camptodactyly, Metatarsus adductus, Clinodactyly, Upper lip pit, Radial b...	ORPHA:2804
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hypodontia, Enamel hypoplasia, Oligodontia	OMIM:607626
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth	OMIM:272300
Epidermolysis Bullosa, Lethal Acantholytic	Clinodactyly of the 5th finger, Sandal gap, Tapered distal phalanges of finger, Natal tooth, Synd...	OMIM:609638
Orofaciodigital Syndrome Type 2	Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod...	ORPHA:2751
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Carious teeth, Calvarial hyperostosis	OMIM:612714
Paget Disease Of Bone 2, Early-Onset	Osteosclerosis of the ulna, Fractures of the long bones, Femoral bowing, Bowing of the long bones...	OMIM:602080
Trichodermodysplasia-Dental Alterations Syndrome	Supernumerary tooth, Abnormal hip bone morphology, Delayed eruption of teeth, Tooth agenesis, Abn...	ORPHA:3353
Osteogenesis Imperfecta	Reduced bone mineral density, Abnormal femur morphology, Abnormal hip bone morphology, Dislocated...	ORPHA:666
Familial Osteodysplasia, Anderson Type	Aplasia/hypoplasia of the femur, Abnormal zygomatic bone morphology, Abnormal cortical bone morph...	ORPHA:2769
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Recurrent respiratory infections, Finger syndactyly, Bilateral cleft palate, Abnormal dental enam...	ORPHA:3253
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, High, narrow palate, Abnormal metacarpal morpho...	ORPHA:3258
Blepharo-Cheilo-Odontic Syndrome	Finger syndactyly, Bilateral cleft palate, Carious teeth, Conical tooth	ORPHA:1997
Otopalatodigital Syndrome, Type I	Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor...	OMIM:311300
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Narrow palate, Thick lower lip vermilion, Narrow mouth, Carious teeth, Overlapping toe	ORPHA:457365
Xfe Progeroid Syndrome	Enamel hypoplasia, Corneal scarring, Premature loss of teeth, Absence of subcutaneous fat	OMIM:610965
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Shprintzen-Goldberg Craniosynostosis Syndrome	Narrow palate, Osteopenia, Genu valgum, Inguinal hernia, Dislocated radial head, Wide anterior fo...	OMIM:182212
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteopenia, Hypogonadotropic hypogonadism, Osteoporosis	OMIM:615269
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Adducted thumb, Notched primary central incisor, Brachydactyly	OMIM:620062
Cockayne Syndrome Type 1	Scarring, Hypoplasia of the primary teeth, Foot joint contracture, Mandibular prognathia, Abnorma...	ORPHA:90321
Hallermann-Streiff Syndrome	Narrow palate, Decreased number of sternal ossification centers, Thin vermilion border, Supernume...	OMIM:234100
Pseudohypoparathyroidism Type 1A	Short 4th metacarpal, Reduced bone mineral density, Short metatarsal, Delayed eruption of teeth, ...	ORPHA:79443
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets, Stage 5 chronic kidney disease, Proteinuria	OMIM:219900
Cranioectodermal Dysplasia 3	Widely spaced teeth, Sandal gap, 2-3 toe syndactyly, Everted lower lip vermilion, Postaxial polyd...	OMIM:614099
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Reduced bone mineral density, Abnormal foot morphology, Genu valgum, Smal...	ORPHA:94068
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Narrow palate, Retrognathia, Short philtrum, Hypodontia, Narrow mouth, Hypoplasia of teeth, Micro...	OMIM:620250
Short Syndrome	Abnormal zygomatic bone morphology, Inguinal hernia, Abnormal dental enamel morphology, Abnormali...	ORPHA:3163
Congenital Myopathy 17	Overlapping fingers, Mandibular prognathia, High palate, Tapered finger, Cleft palate, Tented upp...	OMIM:618975
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Cone-shaped epiphyses of the middle phalanges of the hand, Absent trapezium, Distal symphalangism...	OMIM:606895
Oculocerebrorenal Syndrome Of Lowe	Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Joint s...	ORPHA:534
Orofacial Cleft 15	Inguinal hernia, Palate fistula, Bilateral cleft palate, Agenesis of lateral incisor, Bilateral c...	OMIM:616788
Pseudohypoparathyroidism, Type Ib	Elevated circulating parathyroid hormone level, Low urinary cyclic AMP response to PTH administra...	OMIM:603233
Corneodermatoosseous Syndrome	Abnormal metacarpal morphology, Abnormal dental enamel morphology, Abnormal finger morphology, Gi...	ORPHA:3194
Immunodeficiency 10	Amelogenesis imperfecta, Sepsis, Recurrent otitis media, Recurrent infections, Recurrent urinary ...	OMIM:612783
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Enamel hypoplasia, Recurrent respiratory infections, Omphalocele	OMIM:243150
Filippi Syndrome	Thin vermilion border, Finger clinodactyly, Short philtrum, Serrated incisors, Microdontia, Abnor...	OMIM:272440
Hypercholanemia, Familial, 2	Osteopenia, Prolonged neonatal jaundice, Increased serum bile acid concentration, Unconjugated hy...	OMIM:619256
Calciphylaxis	Secondary hyperparathyroidism, Hyperphosphatemia, Stage 5 chronic kidney disease, Ectopic ossific...	ORPHA:280062
Cri-Du-Chat Syndrome	Orofacial cleft, Thick lower lip vermilion, Short metatarsal, Short philtrum, Inguinal hernia, An...	OMIM:123450
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Enamel hypoplasia, Chronic mucocutaneous candidiasis, Chronic oral candidiasis	OMIM:240300
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d...	OMIM:617280
Hypocalcemia, Autosomal Dominant 1	Decreased glomerular filtration rate, Hypokalemia, Hypocalcemia, Hypercalciuria, Nephrolithiasis,...	OMIM:601198
Ck Syndrome	Joint hypermobility, Abnormal cortical bone morphology, Abnormal digit morphology	OMIM:300831
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Anterior open-bite malocclusion	ORPHA:83601
Kilquist Syndrome	Mandibular prognathia, 2-3 toe syndactyly, Hypoplasia of teeth, Wide mouth, Coxa valga	OMIM:619080
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Calcinosis, Hypokalemia, Hypocalcemia, Renal artery stenosis, Congenital hip dislocat...	OMIM:617913
Immunodeficiency 61	Recurrent respiratory infections, Recurrent sinusitis, Recurrent bacterial infections, Recurrent ...	OMIM:300310
Frank-Ter Haar Syndrome	Osteopenia, Flared metaphysis, Broad alveolar ridges, Gingival overgrowth, Short long bone, High ...	OMIM:249420
Teebi Hypertelorism Syndrome 1	Dental crowding, Omphalocele, Coronal craniosynostosis, Micrognathia, Natal tooth, Long philtrum,...	OMIM:145420
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Recurrent otitis media, Conical tooth, Chronic mucocutaneous candidiasis, Invasive fu...	ORPHA:98813
Temtamy Preaxial Brachydactyly Syndrome	Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Microd...	ORPHA:363417
Apert Syndrome	Limited elbow movement, Broad thumb, Bifid uvula, Syndactyly, Craniosynostosis, Narrow palate, Po...	OMIM:101200
Osteopetrosis, Autosomal Dominant 1	Osteopetrosis, Calvarial osteosclerosis, Abnormal pelvic girdle bone morphology, Thickened cortex...	OMIM:607634
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Hypodontia, Carious teeth, Limb joint contracture, Reduced subcutaneous adipose tissue	OMIM:612079
Spondyloenchondrodysplasia	Juvenile rheumatoid arthritis, Delayed eruption of teeth, Recurrent infections, Arthritis, Hypopl...	ORPHA:1855
Ellis-Van Creveld Syndrome	Genu valgum, Delayed eruption of teeth, Hypoplastic iliac wing, Abnormal alveolar ridge morpholog...	OMIM:225500
Flynn-Aird Syndrome	Joint stiffness, Bone cyst, Carious teeth	ORPHA:2047
Developmental And Epileptic Encephalopathy 100	Bilateral camptodactyly, Gingival overgrowth, Elbow flexion contracture, High palate, Microdontia...	OMIM:619777
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormal cortical bone morphology, Elevated circulating hepatic transaminase concentration, Renal...	OMIM:614886
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Recurrent otitis media, Widely spaced teeth, Microdontia, Hypoplasia of teeth, Cleft palate	ORPHA:2728
Congenital Syphilis	Periostitis, Tibial bowing, High palate, Notched primary central incisor, Synovitis, Semilunar to...	ORPHA:499009
Epiphyseal Dysplasia, Baumann Type	Genu valgum, Clinodactyly of the 5th finger, Carpal bone aplasia, Absent metacarpal epiphyses, Hy...	OMIM:610797
Orofaciodigital Syndrome I	Radial deviation of finger, Syndactyly, Tongue nodules, Clinodactyly, Alveolar ridge overgrowth, ...	OMIM:311200
Hyperparathyroidism, Neonatal Severe	Polyuria, Calcinosis, Elevated circulating parathyroid hormone level, Anemia, Hypercalciuria, Pri...	OMIM:239200
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
Autosomal Dominant Severe Congenital Neutropenia	Osteopenia, Recurrent aphthous stomatitis, Periodontitis, Oral ulcer, Premature loss of teeth, Re...	ORPHA:486
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Trichothiodystrophy	Osteopenia, Retrognathia, High, narrow palate, Increased bone mineral density, Recurrent infectio...	ORPHA:33364
Knobloch Syndrome 2	Enamel hypoplasia, Micrognathia, Recurrent respiratory infections	OMIM:618458
Trisomy 9P	Clinodactyly of the 5th finger, Dental crowding, Non-midline cleft of the upper lip, Downturned c...	ORPHA:236
Infantile Myofibromatosis	Abnormal metaphysis morphology, Abnormality of the kidney, Bone cyst, Limitation of joint mobilit...	ORPHA:2591
Intellectual Disability, Birk-Barel Type	High, narrow palate, Limited elbow flexion/extension, Short philtrum, Foot joint contracture, Inc...	ORPHA:166108
Oslam Syndrome	Carious teeth, Clinodactyly of the 5th finger, Radioulnar synostosis	ORPHA:2760
Chime Syndrome	Supernumerary tooth, Short philtrum, Aplasia/Hypoplasia of the phalanges of the toes, Abnormality...	ORPHA:3474
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Osteoarthritis of the elbow, Abnormality of the wrist, Hip osteoarthritis, Joint subl...	ORPHA:2619
Hyperparathyroidism-Jaw Tumor Syndrome	Thyroid carcinoma, Elevated circulating parathyroid hormone level, Hypercalciuria, Renal hamartom...	ORPHA:99880
Atkin-Flaitz Syndrome	Maxillary lateral incisor microdontia, Abnormality of the dentition, Thick vermilion border, Ever...	ORPHA:1193
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Persistence of primary teeth, Recurrent pneumonia, Umbilical hernia, Hiatus hern...	OMIM:619769
Hypocalcemia, Autosomal Dominant 2	Hypocalcemia, Abnormal blood phosphate concentration	OMIM:615361
Carpenter Syndrome 1	Flared iliac wing, Duplication of the proximal phalanx of the hallux, Umbilical hernia, Genu varu...	OMIM:201000
Temtamy Preaxial Brachydactyly Syndrome	Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Talon cusp, Microdontia, Short metacarpal,...	OMIM:605282
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormal circulating calcium-phosphate regulating hormone concentration, Aplasia/hypoplasia of th...	ORPHA:2636
Hypophosphatasia	Abnormal metaphysis morphology, Anemia, Bowing of the long bones, Abnormal rib morphology, Hyperc...	ORPHA:436
Chronic Mucocutaneous Candidiasis	Cheilitis, Recurrent infections, Abnormal dental enamel morphology, Recurrent urinary tract infec...	ORPHA:1334
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal palate morphology, Tarsal synostosis, Abnormal dental enamel morphology, Wide anterior f...	ORPHA:85199
Genetic Recurrent Myoglobinuria	Hyperkalemia, Acute kidney injury, Exercise-induced myoglobinuria, Elevated circulating hepatic t...	ORPHA:99845
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Congestive heart failure, Hepatomegaly, Bradycardia, Hyperalaninemia, Failure to thrive, Left ven...	OMIM:619048
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental enamel morphology, Synostosis ...	ORPHA:1005
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Abnormal metaphysis morphology, Supernumerary tooth, Thin vermilion border, Thick vermilion borde...	ORPHA:86818
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Ankle flexion contracture, Micrognathia, Natal tooth, Recurrent lower respiratory tract infections	OMIM:617802
Atelosteogenesis Type Ii	Sandal gap, Tracheobronchomalacia, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-shap...	ORPHA:56304
Parathyroid Carcinoma	Parathyroid carcinoma, Thyroid carcinoma, Elevated circulating parathyroid hormone level, Hyperca...	ORPHA:143
Multiple Pterygium Syndrome, Escobar Variant	Rocker bottom foot, Congenital diaphragmatic hernia, Dislocated radial head, Arachnodactyly, Synd...	OMIM:265000
Takenouchi-Kosaki Syndrome	Widely spaced teeth, Proximal placement of thumb, Short philtrum, Inguinal hernia, Recurrent infe...	OMIM:616737
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Short tubular bones of the hand, Abnormal diaphysis morphology, Increased bone minera...	ORPHA:85184
Osteopetrosis, Autosomal Recessive 5	Cranial hyperostosis, Osteopetrosis, Hip subluxation, Anemia, Hypochromic microcytic anemia, Flar...	OMIM:259720
Hallermann-Streiff Syndrome	Supernumerary tooth, High, narrow palate, Reduced bone mineral density, Clinodactyly of the 5th f...	ORPHA:2108
Pseudohypoparathyroidism Type 2	Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Hypocalcemia, Pseudohypopa...	ORPHA:94090
Fibrodysplasia Ossificans Progressiva	Abnormality of the first metatarsal bone, Clinodactyly of the 5th finger, Elevated circulating al...	OMIM:135100
Proteus Syndrome	Calvarial hyperostosis, Mandibular hyperostosis, Facial hyperostosis, Splenomegaly, Thin bony cortex	OMIM:176920
Rothmund-Thomson Syndrome, Type 2	Supernumerary tooth, Delayed eruption of teeth, Mandibular prognathia, High palate, Osteoporosis,...	OMIM:268400
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Glossoptosis, Everted lower lip vermilion, Hypoplasia of the maxilla, Micrognath...	OMIM:616367
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Abnormal dental enamel morphology	ORPHA:257
Juvenile Nephropathic Cystinosis	Elevated alkaline phosphatase of bone origin, Proximal tubulopathy, Renal Fanconi syndrome, Hypop...	ORPHA:411634
Hajdu-Cheney Syndrome	Osteopenia, Genu valgum, Osteolytic defects of the phalanges of the hand, Fibular bowing, Dental ...	OMIM:102500
Osteopathia Striata With Cranial Sclerosis	Flexion contracture of toe, Dental crowding, Paranasal sinus hypoplasia, Arachnodactyly, Bifid uv...	OMIM:300373
Chronic Atrial And Intestinal Dysrhythmia	Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, Decreased body weight, Pul...	OMIM:616201
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormality of the dentition, Carious teeth, Abnormal oral mucosa morphology, Hypodontia, Ankylos...	ORPHA:659
Immunodeficiency 9	Amelogenesis imperfecta, BCGitis, Recurrent aphthous stomatitis, Recurrent infections, Stomatitis	OMIM:612782
Immunodeficiency, Common Variable, 4	Recurrent pneumonia, Recurrent sinusitis, Recurrent bacterial infections	OMIM:613494
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Advanced eruption of teeth, High palate, Mandibular prognathia	OMIM:262190
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Slender long bone, Foot joint contracture, Tapered finger, Micrognathia, Long ph...	ORPHA:444072
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Oligodontia, Natal tooth, Hypodontia, Hip dislocation	OMIM:614381
Faciodigitogenital Syndrome, Autosomal Recessive	Narrow palate, Clinodactyly of the 5th finger, Inguinal hernia, High palate, Short foot, Camptoda...	OMIM:227330
Alopecia Antibody Deficiency	Abnormality of dental color, Recurrent respiratory infections	ORPHA:1006
Femoral-Facial Syndrome	Abnormal fibula morphology, Abnormal pelvic girdle bone morphology, Coxa vara, Radioulnar synosto...	ORPHA:1988
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Widely spaced teeth, Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the ...	OMIM:617102
Diabetes Insipidus, Neurohypophyseal	Osteopenia, Central diabetes insipidus, Decreased circulating osteocalcin level	OMIM:125700
Tafro Syndrome	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Renal insufficien...	ORPHA:457077
Schimke Immuno-Osseous Dysplasia	Recurrent infections, Abnormal femoral head morphology, Abnormal primary molar morphology, Microd...	ORPHA:1830
Coffin-Lowry Syndrome	Everted lower lip vermilion, Short metacarpal, Wide mouth, Short distal phalanx of finger, Joint ...	ORPHA:192
Nephronophthisis 2	Hyperkalemia, Pulmonary insufficiency, Enlarged kidney, Nephronophthisis, Chronic tubulointerstit...	OMIM:602088
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Decreased circulating parathyroid hormone...	OMIM:618883
Junctional Epidermolysis Bullosa With Pyloric Atresia	Enamel hypoplasia, Oral mucosal blisters	ORPHA:79403
Lenz-Majewski Hyperostotic Dwarfism	Abnormal finger morphology, Bifid uvula, Wide mouth, Symphalangism affecting the phalanges of the...	ORPHA:2658
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Camptodactyly of finger, Carious teeth, Arachnodactyly, Joint contracture of the 5th finger	ORPHA:1883
Osteoglophonic Dysplasia	Eruption failure, Short metacarpal, Broad metatarsal, Broad thumb, Long philtrum, Craniosynostosi...	OMIM:166250
Metaphyseal Chondrodysplasia, Schmid Type	Genu valgum, Metaphyseal sclerosis, Broad middle phalanx of finger, Femoral bowing, Irregular ace...	OMIM:156500
Neu-Laxova Syndrome	Rickets, Osteopenia, Pterygium, Osteoporosis, Flexion contracture, Hypogonadism, Osteomalacia, Ar...	ORPHA:2671
Intellectual Developmental Disorder, Autosomal Dominant 21	Thin vermilion border, Recurrent infections, Incisor macrodontia, Narrow mouth, Cleft palate, Lon...	OMIM:615502
Amelogenesis Imperfecta, Type Ig	Amelogenesis imperfecta, Gingival fibromatosis, Dagger-shaped pulp calcifications, Gingival overg...	OMIM:204690
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia, T lymphocytopenia	DECIPHER:16
Rothmund-Thomson Syndrome Type 2	Aplasia/hypoplasia involving bones of the upper limbs, Short metacarpal, Microdontia, Tooth agene...	ORPHA:221016
Langer Mesomelic Dysplasia	Abnormal carpal morphology, Mesomelic/rhizomelic limb shortening, Bowing of the long bones, Micro...	ORPHA:2632
Recon Progeroid Syndrome	Thin vermilion border, Proximal placement of thumb, Recurrent infections, Dental crowding, Arachn...	OMIM:620370
Cartilage-Hair Hypoplasia	Abnormal bone ossification, Abnormal hip bone morphology, Tibial bowing, Abnormally ossified vert...	ORPHA:175
Gnathodiaphyseal Dysplasia	Osteopenia, Diaphyseal cortical sclerosis, Bowing of the long bones, Osteomyelitis, Increased sus...	OMIM:166260
Rhyns Syndrome	Osteopenia, Nephronophthisis, Abnormal long bone morphology, Small epiphyses, Hypoplastic ilia, H...	ORPHA:140976
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal ulnar metaphysis morphology, Finger symphalangism, Patellar hypoplasia, Meta...	ORPHA:221008
Paget Disease Of Bone 3	Fractures of the long bones, Elevated circulating alkaline phosphatase concentration, Osteolysis,...	OMIM:167250
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Cleft palate, Natal tooth, Short philtrum, Scarring alopecia of scalp	OMIM:617337
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypospadias, Bradycardia, Hypertrophic cardiomyopathy, Flexion contracture, Dilated cardiomyopath...	OMIM:618815
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip subluxation, Hip osteoarthritis, Arthralgia of the hip, Wide distal femoral metaphysis, Dyspl...	ORPHA:99642
Cockayne Syndrome A	Square pelvis bone, Loss of facial adipose tissue, Hypoplastic iliac wing, Mandibular prognathia,...	OMIM:216400
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Abnormality of canine, Aplasia of the distal phalanx of the 5th toe, Oligodontia, Exaggerated cup...	ORPHA:364577
Kleefstra Syndrome 1	Tracheobronchomalacia, Mandibular prognathia, Everted lower lip vermilion, Persistence of primary...	OMIM:610253
Blomstrand Lethal Chondrodysplasia	Flared metaphysis, Increased bone mineral density, Metaphyseal cupping, Short metacarpal, Abnorma...	ORPHA:50945
Gapo Syndrome	Abnormal metaphysis morphology, Abnormal palate morphology, Delayed eruption of teeth, Mandibular...	ORPHA:2067
Lowry-Maclean Syndrome	Osteopenia, Retrognathia, High, narrow palate, Congenital diaphragmatic hernia, Inguinal hernia, ...	ORPHA:2409
Crisponi/Cold-Induced Sweating Syndrome 1	Limited elbow extension, Retrognathia, Radial deviation of finger, Elbow flexion contracture, Hig...	OMIM:272430
Pelviscapular Dysplasia	Elbow flexion contracture, Hypoplastic ilia, Congenital hip dislocation, Humeroradial synostosis,...	ORPHA:93333
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemic seizures, Hypoparathyroidism, Hypocalcemia, Nephrocalcinosis, Hyperphosphatemia, Dec...	OMIM:146200
Distal Duplication 18Q	Clinodactyly of the 5th finger, High palate, Abnormal dental morphology, Carious teeth, Micrognat...	ORPHA:1716
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Bradycardia, Decreased circulating carnitine concentration, Cardiac arrest, Hypertr...	OMIM:618235
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Osteopetrosis, Diaphyseal sclerosis, Hypocalcemia, Metaphyseal widening, Increased skull ossifica...	OMIM:618476
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Increased adipose tiss...	ORPHA:199276
Tremor-Ataxia-Central Hypomyelination Syndrome	Hypodontia, Oligodontia, Delayed eruption of teeth	ORPHA:447896
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Genu valgum, Hypoplasia of the tooth germ, Broad thumb, Micrognathia, Bifid uvula, Broad hallux, ...	ORPHA:293967
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology, Craniosynostosis, Recurrent fractures	ORPHA:251004
Nephronophthisis 16	Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Hypertrophic cardiomyopathy, Pulm...	OMIM:615382
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f...	ORPHA:66529
2P21 Microdeletion Syndrome	Hypocalcemia, Nephrolithiasis, Hypogonadism, Cystinuria	ORPHA:163693
Autosomal Dominant Hypocalcemia	Reduced bone mineral density, Hypocalcemia, Hypercalciuria, Hypermagnesiuria, Nephrocalcinosis, H...	ORPHA:428
Pachyonychia Congenita	Advanced eruption of teeth, Natal tooth, Angular cheilitis, Oral leukoplakia	ORPHA:2309
Lipoyltransferase 1 Deficiency	Bradycardia, Pulmonary arterial hypertension, Increased total bilirubin, Hyperprolinemia, Hypergl...	OMIM:616299
Osteogenesis Imperfecta, Type Xviii	Femoral bowing, Bowing of the long bones, Generalized osteoporosis, Micrognathia, Joint hypermobi...	OMIM:617952
Ivic Syndrome	Hypoplasia of the ulna, Limited elbow movement, Hypoplasia of the radius, Preaxial polydactyly, C...	OMIM:147750
Rajab Interstitial Lung Disease With Brain Calcifications 1	Rickets, Osteopenia, Decreased liver function, Reduced bone mineral density, Anemia, Elevated cir...	OMIM:613658
Congenital Disorder Of Glycosylation, Type Iim	Short philtrum, Recurrent infections, Mandibular prognathia, Exaggerated cupid's bow, High palate...	OMIM:300896
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial infections, Chronic sinusitis	OMIM:613502
Aggressive Systemic Mastocytosis	Decreased liver function, Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Panc...	ORPHA:98850
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin vermilion border, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Coxa vara, Radioulnar ...	OMIM:614701
Phelan-Mcdermid Syndrome	Widely spaced teeth, Clinodactyly of the 5th finger, Joint hypermobility, Recurrent infections, 2...	OMIM:606232
Kyphomelic Dysplasia	Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Flat acet...	OMIM:211350
Alpha-Heavy Chain Disease	Hypocalcemia, Splenomegaly, Anemia, Lymphadenopathy	ORPHA:100025
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Advanced eruption of teeth, Widely spaced teeth, Everted lower lip vermilion, Downturned corners ...	OMIM:617865
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Arthrogryposis And Ectodermal Dysplasia	Orofacial cleft, Abnormal dental enamel morphology, Oligodontia, Camptodactyly, Cleft upper lip, ...	OMIM:601701
Autosomal Recessive Malignant Osteopetrosis	Abnormal metaphysis morphology, Osteopetrosis, Reduced bone mineral density, Anemia, Lymphadenopa...	ORPHA:667
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Mildly elevated creatine kinase, Bradycardia	OMIM:620265
Acrocallosal Syndrome	Everted upper lip vermilion, Abnormal oral frenulum morphology, Bifid uvula, Wide mouth, Bifid di...	OMIM:200990
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Flared metaphysis, Short ribs, Decreased skull ossification, Multiple prenatal fractu...	OMIM:616897
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Abnormal long bone morphology, Calvarial hyperostosis, Elevated circulating creatine kinase conce...	ORPHA:52430
Liang-Wang Syndrome	Gingival overgrowth, Everted lower lip vermilion, Downturned corners of mouth, Wide mouth, Macrog...	OMIM:618729
Autosomal Dominant Kenny-Caffey Syndrome	Calvarial osteosclerosis, Decreased skull ossification, Thin long bone diaphyses, Cortical thicke...	ORPHA:93325
Dyskeratosis Congenita	Periodontitis, Abnormality of the dentition, Osteoporosis, Hypoplasia of the maxilla, Carious tee...	ORPHA:1775
Immunodeficiency 82 With Systemic Inflammation	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Arthritis, B lymp...	OMIM:619381
Robinow Syndrome, Autosomal Dominant 3	Triangular mouth, Dental malocclusion, Gingival overgrowth, Camptodactyly, Omphalocele, Broad thu...	OMIM:616894
Costello Syndrome	Narrow palate, Thick lower lip vermilion, Abnormal dental enamel morphology, Abnormality of the d...	ORPHA:3071
Craniosynostosis And Dental Anomalies	Narrow palate, Supernumerary tooth, Lambdoidal craniosynostosis, Delayed eruption of teeth, Denta...	OMIM:614188
Genitopatellar Syndrome	Knee flexion contracture, Delayed eruption of teeth, Hypoplastic ilia, Hypoplastic ischia, Short ...	ORPHA:85201
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor, Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum cont...	OMIM:300291
Prolidase Deficiency	Reduced bone mineral density, Genu valgum, Abnormal hip bone morphology, Recurrent respiratory in...	ORPHA:742
Hjv Or Hamp-Related Hemochromatosis	Abnormality of iron homeostasis, Abnormality of endocrine pancreas physiology, Elevated circulati...	ORPHA:79230
Kleefstra Syndrome Due To A Point Mutation	Thick lower lip vermilion, Inguinal hernia, Tracheomalacia, Recurrent infections, Abnormality of ...	ORPHA:261652
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Recurrent infections, Dental crowding, Eruption failure, 2-3 toe ...	ORPHA:476126
Robin Sequence With Cleft Mandible And Limb Anomalies	Cleft lower alveolar ridge, Proximal placement of thumb, Short metacarpal, Bifid uvula, Short 5th...	OMIM:268305
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Elevated circulating alkaline phosphatase concentration, Elevated circulating creatine kinase con...	OMIM:615422
Melnick-Needles Syndrome	Limited elbow extension, Genu valgum, Osteolytic defects of the phalanges of the hand, Recurrent ...	OMIM:309350
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Thin vermilion border, Abnormal palate morphology, Thick lower lip vermilion, Carious teeth, Brac...	ORPHA:2701
Trichothiodystrophy 3, Photosensitive	Eclabion, Carious teeth, Natal tooth, Recurrent infections	OMIM:616395
Elsahy-Waters Syndrome	Agenesis of incisor, Supernumerary tooth, Thick lower lip vermilion, Cervical C2/C3 vertebral fus...	OMIM:211380
Lethal Acantholytic Erosive Disorder	Clinodactyly of the 5th finger, 4-5 finger syndactyly, Camptodactyly of toe, Cleft palate, Natal ...	ORPHA:158687
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Diabetes mellitus, Hypercho...	OMIM:612526
Glycogen Storage Disease Iv	Abnormal circulating creatine kinase concentration, Bradycardia, Tubulointerstitial fibrosis, Car...	OMIM:232500
Hennekam Syndrome	Retrognathia, Supernumerary tooth, Short philtrum, Delayed eruption of teeth, Finger syndactyly, ...	ORPHA:2136
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal metaphysis morphology, Reduced bone mineral density, Clinodactyly of the 5th finger, Abn...	ORPHA:2370
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo...	OMIM:201250
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Pseudohypoparath...	OMIM:203330
Selective Igm Deficiency	Recurrent vulvovaginal candidiasis, Onychomycosis, Severe varicella zoster infection, Recurrent s...	ORPHA:331235
Schwartz-Jampel Syndrome	Flexion contracture of toe, Everted lower lip vermilion, Abnormally ossified vertebrae, Wrist fle...	ORPHA:800
Atelosteogenesis, Type I	Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel...	OMIM:108720
Premature Aging Syndrome, Penttinen Type	Lipoatrophy, Thin vermilion border, Retrognathia, Delayed eruption of teeth, Slender long bone, N...	OMIM:601812
Noonan Syndrome 4	Dental malocclusion, Wide mouth, Thick vermilion border	OMIM:610733
Atelis Syndrome 1	Long philtrum, Carious teeth, Recurrent infections, High palate	OMIM:620184
Camurati-Engelmann Disease	Abnormal subcutaneous fat tissue distribution, Abnormal femur morphology, Abnormal tibia morpholo...	ORPHA:1328
Atelosteogenesis Type I	Absent or minimally ossified vertebral bodies, Abnormal fibula morphology, Rhizomelia, Short long...	ORPHA:1190
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia	OMIM:611938
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ...	OMIM:613496
Pachyonychia Congenita 2	Natal tooth, Angular cheilitis, Oral leukoplakia	OMIM:167210
Achondroplasia	Limited elbow extension, Narrow greater sciatic notch, Rhizomelia, Ulnar bowing, Flared metaphysi...	OMIM:100800
Idiopathic Congenital Hypothyroidism	Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia, ...	ORPHA:95717
Barber-Say Syndrome	Thin vermilion border, Widely spaced teeth, Clinodactyly of the 5th finger, Delayed eruption of t...	OMIM:209885
Camurati-Engelmann Disease	Genu valgum, Diaphyseal sclerosis, Increased bone mineral density, Mandibular prognathia, Cortica...	OMIM:131300
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Delayed ossification of carpal bones, Reduced bone mineral density, Short femoral neck, Brachydac...	OMIM:618392
Osteopetrosis With Renal Tubular Acidosis	Osteopetrosis, Prominent floating ribs, Anemia, Pancytopenia, Hypocalcemia, Abnormal circulating ...	ORPHA:2785
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Short philtrum, Delayed eruption of teeth, High palate, Everted lower lip vermilion, Thick vermil...	OMIM:615866
Orofaciodigital Syndrome Type 1	Reduced bone mineral density, Broad alveolar ridges, Accessory oral frenulum, Tongue nodules, Con...	ORPHA:2750
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Widely spaced teeth, Clinodactyly of the 5th finger, Delayed eruption of teeth, Conical tooth, Ab...	ORPHA:1071
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Retrognathia, Abnormal fibula morphology, Sandal gap, Inguinal hernia, Abnormal dental enamel mor...	ORPHA:1812
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Recurrent sinusitis, Recurrent bacterial infections, Recurrent ...	OMIM:613493
Mucopolysaccharidosis, Type Ii	Thick lower lip vermilion, Widely spaced teeth, Recurrent otitis media, Inguinal hernia, Delayed ...	OMIM:309900
Trichothiodystrophy 4, Nonphotosensitive	Hypoplasia of teeth, Retrognathia	OMIM:234050
Long Qt Syndrome 15	2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi...	OMIM:616249
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Hyperparathyroidism, Transient Neonatal	Osteopenia, Enlarged kidney, Subperiosteal bone formation, Unilateral renal agenesis, Splenic cys...	OMIM:618188
Osteogenesis Imperfecta, Type Xxiii	Osteopenia, Reduced bone mineral density, Genu valgum, Broad femoral head, Shallow acetabular fos...	OMIM:620639
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Recurrent Haemophilus influenzae infections, Chronic sinusitis	OMIM:300455
Traboulsi Syndrome	Retrognathia, Short finger, High palate, Arachnodactyly, Bifid uvula, Broad hallux, Malar flatten...	OMIM:601552
Duplication Of The Pituitary Gland	Supernumerary tooth, Retrognathia, Abnormality of joint mobility, Cleft palate, Wide mouth	ORPHA:314621
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteopenia, Delayed puberty, Osteoporosis	OMIM:615271
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Supernumerary tooth, Widely spaced teeth, Conical tooth, Microdontia, Micrognathia, Hypodontia	ORPHA:90024
Congenital Disorder Of Glycosylation, Type Iiy	Hip subluxation, Reduced bone mineral density	OMIM:620200
Martin-Probst Syndrome	Thick lower lip vermilion, Micrognathia, Wide mouth, Malar flattening, Umbilical hernia, Dental m...	OMIM:300519
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Tubular luminal dilatation, Renal interstitial fibrosis, Hypertrophic cardiomyop...	OMIM:619902
Immunodeficiency 12	Cheilitis, Recurrent aphthous stomatitis, Recurrent lower respiratory tract infections, Clubbing,...	OMIM:615468
Hermansky-Pudlak Syndrome 2	Recurrent abscess formation, Chronic oral candidiasis, Acetabular dysplasia, Recurrent otitis med...	OMIM:608233
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Osteopenia, Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicit...	OMIM:611555
Au-Kline Syndrome	Retrognathia, Clinodactyly of the 5th finger, Oligodontia, High palate, Overlapping toe, Postaxia...	OMIM:616580
Generalized Pustular Psoriasis	Elevated circulating hepatic transaminase concentration, Elevated circulating C-reactive protein ...	ORPHA:247353
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Unicoronal synostosis, Sh...	OMIM:616300
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated circulating hepatic transaminase concentration, Abnormality of the endocrine system, Spl...	ORPHA:37042
Acrofacial Dysostosis, Catania Type	Abnormal palate morphology, Clinodactyly of the 5th finger, Inguinal hernia, Spina bifida occulta...	ORPHA:1786
8P Inverted Duplication/Deletion Syndrome	Retrognathia, High, narrow palate, Clinodactyly of the 5th finger, Everted lower lip vermilion, M...	ORPHA:96092
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Atrophic scars, Carious teeth, Atypical scarring of skin, Keloids, Oral mucosal blisters	ORPHA:79410
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Hypophosphatemic rickets, Abnormality of dental color, Abnormal finger morphology, Ab...	OMIM:163200
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Abnormal metaphysis morphology, Flat capital femoral epiphysis, Broad femoral neck, F...	ORPHA:157965
Hypochondroplasia	Limited elbow extension, Flared metaphysis, Short long bone, Aplasia/hypoplasia of the extremitie...	OMIM:146000
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Congenital hypoparathyroidism, Hypocalcemia, Hypercalciuria, Hypomagnesemi...	ORPHA:2239
Lacrimoauriculodentodigital Syndrome 2	Abnormal thumb morphology, Conical tooth, Microdontia, Carious teeth, Duplication of thumb phalan...	OMIM:620192
Thanatophoric Dysplasia Type 1	Abnormal metaphysis morphology, Short greater sciatic notch, Femoral bowing, Split hand, Bowing o...	ORPHA:1860
Severe Generalized Junctional Epidermolysis Bullosa	Sepsis, Pyoderma, Recurrent urinary tract infections, Osteoporosis, Enamel hypoplasia, Abnormal o...	ORPHA:79404
Myopathy, Myofibrillar, 1	Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thi...	OMIM:601419
Microphthalmia, Lenz Type	Orofacial cleft, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Delayed eruption o...	ORPHA:568
Immunodeficiency 110 With Lymphoproliferation	Sepsis, Recurrent aphthous stomatitis, Recurrent lower respiratory tract infections, Persistent E...	OMIM:614868
Usher Syndrome	Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia	ORPHA:886
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Osteomalacia, Iron deficiency anemia, Osteoporosis	ORPHA:309031
Koolen-De Vries Syndrome	Narrow palate, High, narrow palate, Abnormal dental enamel morphology, Abnormality of the dentiti...	ORPHA:96169
Agammaglobulinemia 6, Autosomal Recessive	Recurrent otitis media, Recurrent bronchitis, Recurrent pneumonia, Recurrent bacterial infections...	OMIM:612692
Hypergonadotropic Hypogonadism-Cataract Syndrome	Delayed puberty, Absence of secondary sex characteristics, Reduced bone mineral density, Osteopor...	ORPHA:2410
Multiple Pterygium-Malignant Hyperthermia Syndrome	Advanced eruption of teeth, Inguinal hernia, Finger syndactyly, Broad alveolar ridges, Exaggerate...	ORPHA:2215
Enamel-Renal Syndrome	Amelogenesis imperfecta, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, Abno...	ORPHA:1031
Incontinentia Pigmenti	Orofacial cleft, Spina bifida occulta, Delayed eruption of teeth, Finger syndactyly, Abnormal den...	ORPHA:464
Multiple Epiphyseal Dysplasia Type 4	Skewfoot, Stiff ankle, Short metacarpal, Joint stiffness, Broad femoral neck, Abnormal forearm bo...	ORPHA:93307
Treacher-Collins Syndrome	Retrognathia, Abnormal dental enamel morphology, Abnormality of bone mineral density, Open bite, ...	ORPHA:861
Emanuel Syndrome	Congenital diaphragmatic hernia, Chronic oral candidiasis, Recurrent otitis media, Broad jaw, Ing...	OMIM:609029
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Genu valgum, Osteolytic defects of the phalanges...	OMIM:182250
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Abnormal pelvic girdle bone morphology, Elevated alkaline phosphatase of bone origin, Elevated ci...	OMIM:167320
Lacrimoauriculodentodigital Syndrome	Microdontia, Bifid uvula, Absent thumb, Syndactyly, Clinodactyly, Hypoplasia of the radius, Abnor...	ORPHA:2363
Turnpenny-Fry Syndrome	Hypoplasia of the primary teeth, Dental crowding, Microdontia, Prominent interphalangeal joints, ...	OMIM:618371
Osteopetrosis, Autosomal Dominant 2	Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Abnormal pel...	OMIM:166600
Immunodeficiency 114, Folate-Responsive	Aphthous ulcer, Carious teeth, Recurrent lower respiratory tract infections, Lip fissure	OMIM:620603
Oculoskeletodental Syndrome	Hypocalcemia, Hypercalciuria, Elbow flexion contracture, Hypothyroidism, Mucopolysacchariduria, R...	OMIM:618440
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Abnormal hip bone morphology, Mandibular prognathia, Narrow mouth, Carious teeth, Downturned corn...	ORPHA:1110
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Hypertriglyceridemia, Hepatomegaly, Prolonged QT interval, Bradycardia, Atrial fibril...	OMIM:613327
Emanuel Syndrome	Congenital diaphragmatic hernia, Recurrent candida infections, Recurrent otitis media, Broad jaw,...	ORPHA:96170
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Tooth agenesis, Hypoplastic pelvis, Split foot, Umbilical hernia...	ORPHA:2092
Diffuse Cutaneous Systemic Sclerosis	Arthritis, Carious teeth, Flexion contracture, Narrow foramen obturatorium, Osteolysis	ORPHA:220393
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Metacarpal osteolysis, Wrist swelling, Ankle swelling, Carpal osteolysis, Metatarsal ...	OMIM:166300
X-Linked Agammaglobulinemia	Anemia, Hypocalcemia, Arthritis, Thrombocytopenia, Recurrent cutaneous abscess formation, Hepatit...	ORPHA:47
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Narrow palate, Retrognathia, Joint contracture of the hand, Spina bifida occulta, Delayed eruptio...	OMIM:235510
Colchicine Poisoning	Myocarditis, Congestive heart failure, Abnormal blood ion concentration, Hypokalemia, Hypocalcemi...	ORPHA:31824
Congenital Disorder Of Glycosylation, Type Iip	Decreased liver function, Elevated circulating hepatic transaminase concentration, Decreased circ...	OMIM:616829
Mucolipidosis Type Iii	Reduced bone mineral density, Abnormal hip bone morphology, Craniofacial hyperostosis, Large ilia...	ORPHA:577
Cardiofaciocutaneous Syndrome 1	Osteopenia, Clinodactyly of the 5th finger, Hyperextensibility of the finger joints, Open bite, H...	OMIM:115150
Isolated Cleft Lip	Supernumerary maxillary incisor, Non-midline cleft of the upper lip, Velopharyngeal insufficiency...	ORPHA:199302
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Widely spaced teeth, Proximal placement of thumb, Short philtrum, Inguinal hernia, Recurrent infe...	ORPHA:487796
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Fibular hypoplasia, Pseudoarthrosis	OMIM:607278
Autosomal Recessive Robinow Syndrome	Abnormal hip bone morphology, Sandal gap, Broad thumb, Wide mouth, Umbilical hernia, Short distal...	ORPHA:1507
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hyperinsulinemia, Hypophosphatemic rickets, Elevated circulating hepatic transaminase concentrati...	ORPHA:263455
Long Qt Syndrome 16	Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia	OMIM:618782
Cockayne Syndrome B	Square pelvis bone, Loss of facial adipose tissue, Hypoplastic iliac wing, Mandibular prognathia,...	OMIM:133540
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Hyperammonemia, Cardiomegaly, Elevated circulating creatin...	OMIM:608836
Pachydermoperiostosis	Abnormal cortical bone morphology, Anemia, Arthritis, Limitation of joint mobility, Abnormal epip...	ORPHA:2796
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Polyuria, Hypokalemia, Hypocalcemia, Hyponatremia, Nephrocalcinosis, Hypomagnesemia	OMIM:620152
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Elevated circulat...	OMIM:605911
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Retrognathia, Recurrent otitis media, Inguinal hernia, Joint hypermobility, Tracheomalacia, Denta...	OMIM:620654
Eec Syndrome	Orofacial cleft, Proximal placement of thumb, Aplasia/Hypoplasia of the thumb, Finger syndactyly,...	ORPHA:1896
Andersen-Tawil Syndrome	Clinodactyly of the 5th toe, Abnormality of dental color, Dental crowding, Oligodontia, 2-3 toe s...	ORPHA:37553
Immunodeficiency 49	Micrognathia, Natal tooth, Short philtrum, Umbilical hernia	OMIM:617237
Alport Syndrome 3A, Autosomal Dominant	Hematuria, Azotemia, Hypertension, Nephrotic syndrome, Microscopic hematuria, Thickened glomerula...	OMIM:104200
Distal Duplication 5Q	Hypoplasia of the ulna, Thin vermilion border, Hypoplasia of the radius, Narrow mouth, Carious te...	ORPHA:96097
Wild Type Attr Amyloidosis	Congestive heart failure, Hepatomegaly, Bradycardia, Atrial fibrillation, Renal insufficiency, Hy...	ORPHA:330001
Shwachman-Diamond Syndrome	Osteopenia, Sepsis, Delayed eruption of teeth, Oral ulcer, Abnormal finger morphology, Sinusitis,...	ORPHA:811
Orofaciodigital Syndrome Xix	Narrow palate, Retrognathia, Cleft soft palate, Midline notching of lower lip, High palate, Narro...	OMIM:620107
Blue Diaper Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating hepatic tran...	ORPHA:94086
Aa Amyloidosis	Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Hepatomegaly, Hypotension, Nephr...	ORPHA:85445
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Femoral bowing, Recurrent fractures, Increased susceptibility to fractures	OMIM:615066
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Hepatomegaly, Bradycardia, Cardiac arrest, Cardiomyopathy, Hypotension, Pr...	OMIM:212138
Familial Partial Lipodystrophy, Dunnigan Type	Lipoatrophy, Advanced eruption of teeth, Loss of subcutaneous adipose tissue in limbs, Lipodystro...	ORPHA:2348
Familial Adenomatous Polyposis 1	Supernumerary tooth, Eruption failure, Odontoma, Carious teeth, Multiple lipomas, Keloids	OMIM:175100
Stickler Syndrome	Reduced bone mineral density, Glossoptosis, Tooth agenesis, Arachnodactyly, Bifid uvula, Abnormal...	ORPHA:828
Multiple Myeloma	Osteopenia, Acute kidney injury, Anemia, Lymphadenopathy, Abnormality of the bladder, Nephrotic s...	ORPHA:29073
Robinow Syndrome	Fused thoracic vertebrae, Orofacial cleft, Triangular mouth, Tooth malposition, Hypodontia, Broad...	ORPHA:97360
Congenital Heart Block	Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv...	ORPHA:60041
Spondyloepimetaphyseal Dysplasia, Missouri Type	Limited elbow extension, Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared m...	OMIM:602111
Hypotonia-Cystinuria Syndrome	Decreased response to growth hormone stimulation test, Hypocalcemia, Nephrolithiasis, Hypergonado...	OMIM:606407
Immunodeficiency, Common Variable, 2	Recurrent otitis media, Recurrent bronchitis, Recurrent pneumonia, Recurrent sinusitis, Meningiti...	OMIM:240500
Neutrophilia, Hereditary	Elevated leukocyte alkaline phosphatase, Neutrophilia, Splenomegaly	OMIM:162830
De Barsy Syndrome	Osteopenia, Adducted thumb, Inguinal hernia, Delayed eruption of teeth, Narrow mouth, High palate...	ORPHA:2962
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Short femur, Amelia, Foot oligodactyly	OMIM:601357
Rubinstein-Taybi Syndrome	Clinodactyly of the 5th finger, Joint hypermobility, Finger syndactyly, High palate, Abnormality ...	ORPHA:783
Aneurysm-Osteoarthritis Syndrome	Retrognathia, Inguinal hernia, Joint hypermobility, Intervertebral disk degeneration, Knee osteoa...	ORPHA:284984
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level, Hypertrophic cardiomyopathy, Bradycardia	OMIM:616277
Combined Oxidative Phosphorylation Deficiency 10	Bradycardia, Hyperalaninemia, Hypertrophic cardiomyopathy, Failure to thrive, Hyperammonemia, Car...	OMIM:614702
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Enlarged kidney, Hepatomegaly, Splenomegaly	OMIM:615285
Recessive Dystrophic Epidermolysis Bullosa Inversa	Carious teeth, Atrophic scars, Oral mucosal blisters	ORPHA:79409
Chromosome 13Q33-Q34 Deletion Syndrome	Advanced eruption of teeth, Short philtrum, Delayed eruption of teeth, Gingival overgrowth, High ...	OMIM:619148
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Short metacarpal, Split foot, Umbilical hernia, Joint hypermobil...	OMIM:305600
Lathosterolosis	Anisopoikilocytosis, 2-4 toe cutaneous syndactyly, 2-3 toe cutaneous syndactyly, Intrahepatic cho...	OMIM:607330
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Myoglobinuria, Hypotension, Elevated circulating creatine kinase concentration, Tac...	OMIM:145600
Sponastrime Dysplasia	Short long bone, Short dental root, Microdontia, Metaphyseal irregularity, Joint hypermobility, F...	ORPHA:93357
Bosma Arhinia Microphthalmia Syndrome	Dental malocclusion, Inguinal hernia, High palate, Hypoplasia of teeth, Paranasal sinus hypoplasi...	OMIM:603457
Marshall Syndrome	Small proximal tibial epiphyses, Bifid uvula, Irregular femoral epiphysis, Long philtrum, Irregul...	OMIM:154780
Mannose-Binding Lectin Deficiency	Recurrent Klebsiella infections, Recurrent herpes, Disseminated cryptosporidium infection, Recurr...	OMIM:614372
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Large for gestational age, Enlarged kidney, Inguinal hernia, Umbilical hernia, Nephroblastoma	OMIM:618272
Mucopolysaccharidosis, Type Vi	Genu valgum, Inguinal hernia, Delayed eruption of teeth, Hypoplastic iliac wing, Hypoplastic acet...	OMIM:253200
Osebold-Remondini Syndrome	Hypoplasia of the ulna, Broad finger, Hypoplasia of the radius, Tarsal synostosis, Fibular hypopl...	OMIM:112910
Rubinstein-Taybi Syndrome 1	Retrognathia, Broad distal phalanx of finger, Dislocated radial head, Dental crowding, Hypoplasti...	OMIM:180849
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Abnormality of primary teeth, Tooth agenesis, Bifid uvula, Joint hypermobility, Craniosynostosis,...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Abnormality of primary teeth, Tooth agenesis, Bifid uvula, Joint hypermobility, Craniosynostosis,...	ORPHA:352665
Acromesomelic Dysplasia, Grebe Type	Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl...	ORPHA:2098
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Ghosal Hematodiaphyseal Dysplasia	Diaphyseal dysplasia, Increased bone mineral density, Refractory anemia, Myelofibrosis, Bone marr...	OMIM:231095
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Renal insufficiency, Hypocalcemia, Hypothyroidism, Brachydactyly, Short dista...	ORPHA:1563
Estrogen Resistance Syndrome	Osteopenia, Absence of secondary sex characteristics, Elevated tissue non-specific alkaline phosp...	ORPHA:785
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617182
Lacrimoauriculodentodigital Syndrome 1	Microdontia, Bilateral triphalangeal thumbs, Absent radius, Delayed eruption of primary teeth, Hy...	OMIM:149730
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S...	OMIM:617925
Johanson-Blizzard Syndrome	Oligodontia, Abnormality of the dentition, Microdontia, Delayed eruption of teeth	ORPHA:2315
Thalidomide Embryopathy	Abnormal fibula morphology, Aplasia/hypoplasia of the femur, Triphalangeal thumb, Radial club han...	ORPHA:3312
Opsismodysplasia	Renal phosphate wasting, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Flat aceta...	OMIM:258480
Apert Syndrome	Narrow palate, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Man...	ORPHA:87
Aapoaiv Amyloidosis	Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Atrial flutter, Left bund...	ORPHA:439232
Ring Chromosome 10 Syndrome	Hypocalcemia, Renal hypoplasia/aplasia, Tapered finger, Sandal gap	ORPHA:1438
Bacterial Toxic-Shock Syndrome	Renal insufficiency, Hypocalcemia, Arthritis, Recurrent urinary tract infections, Increased circu...	ORPHA:36234
Diaphanospondylodysostosis	Absent in utero rib ossification, Enlarged kidney, Inguinal hernia, Tracheomalacia, Nephroblastom...	OMIM:608022
Lelis Syndrome	Hypodontia, Carious teeth, Mandibular prognathia, Furrowed tongue	ORPHA:140936
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Panniculitis, Recurrent lower respiratory tract infections, Delayed eruption of teeth, Gingival o...	ORPHA:508542
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Thick vermilion border, Macrodontia of permanent maxillary central incisor, Open mouth	OMIM:620114
Neuroleptic Malignant Syndrome	Hyperkalemia, Acute kidney injury, Urinary incontinence, Elevated circulating hepatic transaminas...	ORPHA:94093
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr...	OMIM:616117
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	High palate, Carious teeth, Smooth philtrum, Long philtrum, Joint hypermobility, Thin upper lip v...	OMIM:620191
Cardiomyopathy, Dilated, 1D	Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco...	OMIM:601494
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Limited elbow extension, Narrow greater sciatic notch, Irregular epiphyses, Dysplastic iliac wing...	OMIM:608728
Chand Syndrome	Agenesis of maxillary incisor, Short fifth metatarsal, Abnormal oral frenulum morphology, Commiss...	ORPHA:1401
Monosomy 18P	Short philtrum, Tooth malposition, Carious teeth, Downturned corners of mouth, Cleft palate, Micr...	ORPHA:1598
Immunodeficiency 38 With Basal Ganglia Calcification	Severe viral infection, BCGitis, Recurrent viral infections, Recurrent mycobacterial infections	OMIM:616126
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Generalized bone demineralization, Hypoparathyroidism, Decreased circulating A...	ORPHA:199299
Generalized Arterial Calcification Of Infancy	Stippled calcification of the elbow, Elevated alkaline phosphatase of bone origin, Hypophosphatem...	ORPHA:51608
Romano-Ward Syndrome	Torsade de pointes, Hypokalemia, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmi...	ORPHA:101016
Timothy Syndrome	Prolonged QT interval, Cardiomegaly, Bradycardia, Hypocalcemia, Pulmonary arterial hypertension, ...	OMIM:601005
Spondyloepimetaphyseal Dysplasia, Krakow Type	Metaphyseal irregularity, Delayed pubic bone ossification, Irregular epiphyses, Knee flexion cont...	OMIM:618162
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616276
Ellis Van Creveld Syndrome	Thin vermilion border, Genu valgum, Delayed eruption of teeth, Conical incisor, Abnormality of th...	ORPHA:289
Miller-Dieker Lissencephaly Syndrome	Polydactyly, Clinodactyly of the 5th finger, Inguinal hernia, Delayed eruption of teeth, Camptoda...	OMIM:247200
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Short philtrum, Mandibular prognathia, Calcaneovalgus deformity, Long fingers, Tented upper lip v...	ORPHA:521445
Autosomal Dominant Robinow Syndrome	Retrognathia, Umbilical hernia, Long philtrum, Anodontia, Coxa valga, Hip dislocation, Short phil...	ORPHA:3107
Bartter Syndrome, Type 1, Antenatal	Renal potassium wasting, Increased serum prostaglandin E2, Nephrocalcinosis, Hyperaldosteronism, ...	OMIM:601678
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Supernumerary tooth, Aplasia of the epiglottis, Short clavicles, Short long bone, Postaxial hand ...	OMIM:617088
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Reduced bone mineral density, Joint dislocation, Recurrent urinary tract infections, Joint stiffn...	OMIM:620210
Dyskeratosis Congenita, Autosomal Recessive 6	Premature loss of teeth, Carious teeth, Oral leukoplakia	OMIM:616353
Atrial Standstill 2	Scarring, Bradycardia, Cardiomyopathy, Atrial arrhythmia, Hyperpepsinogenemia I, Absent P wave, P...	OMIM:615745
Atrial Fibrillation, Familial, 10	Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent atrial fibrillation, Tricu...	OMIM:614022
Sotos Syndrome	Narrow palate, Advanced eruption of teeth, High, narrow palate, Genu valgum, Mandibular prognathi...	OMIM:117550
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Multiple carpal ossification centers, Generalized bone demineralization, Dislocated radial head, ...	OMIM:143095
Robinow Syndrome, Autosomal Dominant 1	Retrognathia, Radial deviation of finger, Dislocated radial head, Dental crowding, Short long bon...	OMIM:180700
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Equinovarus deformity, Aplasia/Hypoplasia of metatarsal bones, Flared metaphysis, Narrow iliac wi...	ORPHA:2502
7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Thin vermilion border, Retrognathia, Short philtrum, Inguinal he...	ORPHA:96121
Cutis Laxa, Autosomal Recessive, Type Iia	Inguinal hernia, Wide anterior fontanel, Narrow mouth, High palate, Congenital hip dislocation, C...	OMIM:219200
Glycogen Storage Disease Ia	Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Hyperuricemia, Hypertension,...	OMIM:232200
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Beare-Stevenson Cutis Gyrata Syndrome	Narrow palate, Limited elbow extension, Gingival overgrowth, High palate, Narrow mouth, Bifid uvu...	OMIM:123790
Immunodeficiency 34	BCGosis, Pulmonary tuberculosis, Recurrent mycobacterial infections	OMIM:300645
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R...	OMIM:249700
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Chronic oral candidiasis, Recurrent aphthous stomatitis, Recurrent viral infections, Recurrent up...	ORPHA:275
Tetanus	Stiff neck, Bradycardia, Hypertension, Elevated urinary epinephrine level, Elevated urinary norep...	ORPHA:3299
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Lipoatrophy, Advanced eruption of teeth, Osteolytic defects of the phalanges of the hand, Loss of...	ORPHA:280365
Dubowitz Syndrome	Sandal gap, Broad thumb, Wide mouth, Abnormality of thumb phalanx, Joint hypermobility, Craniosyn...	ORPHA:235
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Widely spaced teeth, Conical tooth, Peg-shaped maxillary lateral incisors, Microdontia, Micrognathia	OMIM:610706
Cystic Echinococcosis	Jaundice, Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline ...	ORPHA:400
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Abnormality of alkaline phosphatase level, Elevated circulating creatine kinase concentration, El...	OMIM:620375
Uremic Pruritus	Hypermagnesemia, Elevated total serum tryptase, Increased blood urea nitrogen, Hypercalcemia, Chr...	ORPHA:94059
Wrinkly Skin Syndrome	Osteopenia, Inguinal hernia, Delayed eruption of teeth, High palate, Congenital hip dislocation, ...	ORPHA:2834
Gardner Syndrome	Supernumerary tooth, Lipoma, Odontoma, Abnormality of the dentition, Multiple unerupted teeth, Ke...	ORPHA:79665
Lead Poisoning	Cranial hyperostosis, Delayed eruption of teeth	ORPHA:330015
Coffin-Lowry Syndrome	Narrow palate, Thick lower lip vermilion, Widely spaced teeth, Inguinal hernia, Bifid sternum, Hy...	OMIM:303600
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Complement Component 7 Deficiency	Recurrent meningococcal disease, Recurrent Neisserial infections	OMIM:610102
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Hyperalaninemia, Bradycardia	OMIM:614654
Familial Thyroid Dyshormonogenesis	Bradycardia, Abnormal circulating thyroglobulin concentration, Delayed proximal femoral epiphysea...	ORPHA:95716
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent viral infections, Recurrent protozoan infections, Recurrent bacterial infections	OMIM:308220
Familial Short Qt Syndrome	Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor...	ORPHA:51083
Beta-Thalassemia Intermedia	Decreased liver function, Reduced bone mineral density, Proximal tubulopathy, Anemia of inadequat...	ORPHA:231222
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Conical tooth, Everted lower lip vermilion, Microdontia, Hypoplasia ...	OMIM:305100
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Amelogenesis imperfecta, Recurrent urinary tract infections	OMIM:248190
Pearson Syndrome	Elevated circulating hepatic transaminase concentration, Reticulocytosis, Bone marrow hypocellula...	ORPHA:699
Immunodeficiency, Common Variable, 1	Recurrent otitis media, Recurrent bronchitis, Recurrent pneumonia, Recurrent sinusitis, Recurrent...	OMIM:607594
Diffuse Neonatal Hemangiomatosis	Renal hypoplasia/aplasia, Anemia, Thrombocytopenia, Hypercalcemia, Patent ductus arteriosus, Rena...	ORPHA:2123
Acheiropodia	Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,...	ORPHA:931
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Rocker bottom foot, High palate, Carious teeth, Downturned corners of mouth, Micrognathia, Tapere...	OMIM:620070
Barber-Say Syndrome	Wide mouth, Delayed eruption of teeth	ORPHA:1231
Gm1-Gangliosidosis, Type Ii	Sea-blue histiocytosis, Patent ductus arteriosus, Joint stiffness, Thin bony cortex, Splenomegaly...	OMIM:230600
Microphthalmia, Syndromic 2	Supernumerary tooth, 2-3 toe cutaneous syndactyly, Radiculomegaly, Hammertoe, Dental malocclusion...	OMIM:300166
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ...	OMIM:604559
Renal Dysplasia	Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Hyp...	ORPHA:93108
Chromosome 19Q13.11 Deletion Syndrome, Distal	Thin vermilion border, Retrognathia, Solitary median maxillary central incisor, Clinodactyly of t...	OMIM:613026
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Flared iliac ...	ORPHA:93314
Kleefstra Syndrome	Advanced eruption of teeth, Delayed eruption of teeth, Tracheomalacia, Mandibular prognathia, Exa...	ORPHA:261494
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Large for gestational age, Delayed epiphyseal ossification, Absent ossification of capital femora...	ORPHA:226313
Beta-Thalassemia	Reduced bone mineral density, Abnormality of iron homeostasis, Anemia, Thrombocytopenia, Abnormal...	ORPHA:848
Congenital Disorder Of Glycosylation, Type Ig	Hypoplasia of the radius, Hypospadias, Sandal gap, Hypocalcemia, Short ribs, Short humerus, Paten...	OMIM:607143
Glycogen Storage Disease Of Heart, Lethal Congenital	Congestive heart failure, Enlarged kidney, Bradycardia, ST segment elevation, Cardiomyopathy, Hyp...	OMIM:261740
Coxoauricular Syndrome	Reduced bone mineral density, Abnormal femur morphology, Abnormal pelvic girdle bone morphology, ...	ORPHA:1508
Ane Syndrome	Lipoatrophy, Premature loss of teeth, Carious teeth, Hypodontia, Multiple joint contractures	ORPHA:157954
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Narrow palate, Supernumerary tooth, Broad distal phalanx of finger, Abnormal proximal phalanx mor...	ORPHA:353281
Glutamine Deficiency, Congenital	Bradycardia, Camptodactyly, Hyperammonemia, Flexion contracture, Hypoglutaminemia	OMIM:610015
Idiopathic Hypercalciuria	Osteopenia, Calcium oxalate nephrolithiasis, Hypercalciuria, Osteoporosis, Renal calcium wasting	ORPHA:2197
Adamantinoma	Pathologic fracture, Hypercalcemia	ORPHA:55881
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Cleft hard palate, Broad distal phalanx of finger, Clinodactyly of the 5th finger, Delayed erupti...	OMIM:300990
Johnson Neuroectodermal Syndrome	Everted lower lip vermilion, Carious teeth, Hand polydactyly, Cleft palate, Preaxial hand polydac...	ORPHA:2316
Carpenter Syndrome 2	Retrognathia, Broad thumb, Umbilical hernia, Long philtrum, Craniosynostosis, Narrow palate, Camp...	OMIM:614976
Hypercalcemia, Infantile, 1	Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Nephrocalcinosis, Hypercal...	OMIM:143880
Poikiloderma With Neutropenia	Retrognathia, Recurrent otitis media, Recurrent bronchopulmonary infections, Joint stiffness, Car...	OMIM:604173
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Periodontitis, Oral ulcer, Gingivitis, Osteoporosis, Carious teeth, Gout, Delayed eru...	ORPHA:79259
Monosomy 9Q22.3	Polydactyly, Orofacial cleft, Odontogenic keratocysts of the jaw, Delayed eruption of teeth, Narr...	ORPHA:77301
Kindler Epidermolysis Bullosa	Short 4th metacarpal, Cheilitis, Periodontitis, Finger syndactyly, Abnormal dental enamel morphol...	ORPHA:2908
H Syndrome	Hypertriglyceridemia, Abnormality of the kidney, Enlarged kidney, Abnormal cardiovascular system ...	ORPHA:168569
Endocrine-Cerebroosteodysplasia	Preaxial polydactyly, Fibular bowing, Sandal gap, Hitchhiker thumb, Tibial bowing, Median cleft p...	OMIM:612651
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Elevated circulating alkaline phosphatase concentration, Brachydactyly, Low alkaline phosphatase	OMIM:618879
Leukocyte Adhesion Deficiency, Type I	Periodontitis, Recurrent infections, Chronic mucocutaneous candidiasis, Gingivitis, Recurrent sta...	OMIM:116920
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f...	ORPHA:730
Thyrotoxic Periodic Paralysis	Hyperkalemia, Prolonged QT interval, Transient hypophosphatemia, Urinary retention, Episodic hypo...	ORPHA:79102
Cockayne Syndrome Type 3	Enamel hypoplasia, Carious teeth, Flexion contracture	ORPHA:90324
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bowing, Pathologic ...	OMIM:601559
Dyskeratosis Congenita, Autosomal Recessive 1	Carious teeth, Osteoporosis, Microdontia, Oral leukoplakia	OMIM:224230
Wrinkly Skin Syndrome	Osteopenia, Inguinal hernia, Delayed eruption of teeth, Slender long bone, Wide anterior fontanel...	OMIM:278250
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent candida infections, Recurrent Staphylococcus aureus infections, Chronic mucocutaneous c...	ORPHA:572
Zimmermann-Laband Syndrome 1	Short philtrum, Delayed eruption of teeth, Gingival fibromatosis, Hyperextensibility of the finge...	OMIM:135500
Mucopolysaccharidosis-Plus Syndrome	Congestive heart failure, Enlarged kidney, Hepatomegaly, Focal segmental glomerulosclerosis, Hype...	OMIM:617303
Holoprosencephaly 9	Agenesis of incisor, Thick lower lip vermilion, Solitary median maxillary central incisor, Short ...	OMIM:610829
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Gastrointestinal hemorrhage, Enlarged kidney, Hypopho...	OMIM:276700
Granulomatous Slack Skin	Abnormal lymph node morphology, Nephrocalcinosis, Hypercalcemia, Acute kidney injury	ORPHA:33111
Sick Sinus Syndrome 2	Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P...	OMIM:163800
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Atrioventricular block, Failure to thrive, Joint contracture of the 5th finger, Bradycardia	OMIM:614407
Rhyns Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Nephronophthisis, Anterior hyp...	OMIM:602152
Chromomycosis	Abnormal oral cavity morphology, Atypical scarring of skin, Ankylosis, Recurrent bacterial infect...	ORPHA:182
Mannosidosis, Alpha B, Lysosomal	Widely spaced teeth, Inguinal hernia, Gingival overgrowth, Mandibular prognathia, Femoral bowing,...	OMIM:248500
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Hyperuricemia, Hypertension,...	OMIM:232220
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased circulating lactate dehy...	OMIM:278000
Ramon Syndrome	Narrow palate, Juvenile rheumatoid arthritis, Delayed eruption of teeth, Gingival fibromatosis	OMIM:266270
T-Cell Immunodeficiency With Thymic Aplasia	Chronic oral candidiasis, Recurrent candida infections, Sepsis, Recurrent Staphylococcus aureus i...	ORPHA:83471
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Osteopenia, Hypoparathyroidism, Patent ductus arteriosus, Congenital megaur...	ORPHA:369837
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Osteopenia, Aplastic anemia, Mediastinal lymphadenopathy, Anemia, Clubbing of fingers, Pancytopen...	OMIM:614742
Adult Idiopathic Neutropenia	Recurrent aphthous stomatitis, Recurrent infections, Helicobacter pylori infection, Recurrent fun...	ORPHA:2688
Immunodeficiency 30	Recurrent infections, Recurrent mycobacterial infections	OMIM:614891
Congenital Disorder Of Glycosylation, Type Iif	Clinodactyly, Short philtrum, Recurrent bacterial infections	OMIM:603585
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys	OMIM:613885
Spondyloepimetaphyseal Dysplasia, X-Linked	Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l...	OMIM:300106
Complement Component 8 Deficiency, Type Ii	Meningitis, Recurrent Neisserial infections	OMIM:613789
Cockayne Syndrome	Congenital contracture, Abnormal dental morphology, Enamel hypoplasia, Carious teeth, Reduced sub...	ORPHA:191
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Sepsis, Recurrent otitis media, Molluscum contagiosum, Disseminated molluscum contagiosum, Severe...	OMIM:243700
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Fa...	OMIM:604387
Bone Marrow Failure Syndrome 6	Osteopenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Hypothyroidis...	OMIM:618849
Sudden Cardiac Failure, Infantile	Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Sudden cardiac d...	OMIM:617222
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia, Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Abnormality of...	OMIM:618010
Stüve-Wiedemann Syndrome	Osteopenia, Abnormal metaphysis morphology, Genu valgum, Abnormal cortical bone morphology, Elbow...	ORPHA:3206
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Widely spaced teeth, Delayed eruption of teeth, Gingival overgrowth, Microdontia, Limb joint cont...	OMIM:301072
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Osteopenia, Absence of pubertal development, Hypogonadism, Osteoporosis	OMIM:615267
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia, Coxa valga	OMIM:191420
Myelolymphatic Insufficiency	Recurrent viral infections, Recurrent bacterial infections	OMIM:310350
Nasu-Hakola Disease	Acute leukemia, Reduced bone mineral density, Bone cyst, Limitation of joint mobility, Abnormal e...	ORPHA:2770
Congenital Myopathy 22A, Classic	Bradycardia, Congenital finger flexion contractures, Osteoporosis, Tricuspid regurgitation, Hip c...	OMIM:620351
Robinow Syndrome, Autosomal Recessive 1	Retrognathia, Radial deviation of finger, Dislocated radial head, Dental crowding, Tooth agenesis...	OMIM:268310
Bloom Syndrome	Clinodactyly of the 5th finger, Hand polydactyly, Malar flattening, Syndactyly, Recurrent upper r...	OMIM:210900
Immunoerythromyeloid Hypoplasia	Absent leukocyte alkaline phosphatase, Erythroid hypoplasia	OMIM:242880
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypocalcemia, Hypoproteinemia, Postaxial hand polydactyly, Hydronephrosis, Splenomegaly, Micropen...	OMIM:235255
Acheiropody	Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to...	OMIM:200500
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent candida infections, Recurrent bacterial infections	OMIM:242870
Distal Deletion 12Q	Supernumerary tooth, High, narrow palate, Clinodactyly of the 5th finger, Wide anterior fontanel,...	ORPHA:96149
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Chronic oral candidiasis, Clinodactyly of the 2nd finger, Broad middle phalanx of fin...	ORPHA:221139
Monosomy 22Q13.3	Clinodactyly of the 5th finger, Dental crowding, Recurrent pyelonephritis, Malar flattening, Umbi...	ORPHA:48652
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Dihydropyrimidine Dehydrogenase Deficiency	Retrognathia, Delayed eruption of teeth, High palate, Epiphyseal dysplasia, Open mouth, Deep phil...	ORPHA:1675
Orofaciodigital Syndrome Type 14	Supernumerary tooth, Deviation of the hallux, Aplasia of the epiglottis, Postaxial hand polydacty...	ORPHA:434179
Apc-Related Attenuated Familial Adenomatous Polyposis	Supernumerary tooth, Odontoma, Lipoma	ORPHA:247806
Hereditary Fructose Intolerance	Hypermagnesemia, Jaundice, Hyperuricemia, Reduced circulating aldolase concentration, Chronic hep...	ORPHA:469
Paget Disease Of Bone 6	Recurrent fractures, Nephrocalcinosis, Elevated circulating alkaline phosphatase concentration, O...	OMIM:616833
Gapo Syndrome	High, narrow palate, Thick lower lip vermilion, Wide anterior fontanel, Eruption failure, Microgn...	OMIM:230740
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia	OMIM:246570
Gitelman Syndrome	Delayed puberty, Urinary incontinence, Renal potassium wasting, Parathyroid adenoma, Nocturia, Ty...	ORPHA:358
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Chronic oral candidiasis, Recurrent Staphylococcus aureus infections, Chronic mucocut...	OMIM:147060
Rabson-Mendenhall Syndrome	Polydactyly, Advanced eruption of teeth, Recurrent infections, Dental crowding, Gingival overgrow...	ORPHA:769
Addison Disease	Delayed puberty, Generalized bone demineralization, Decreased circulating cortisol level, Type I ...	ORPHA:85138
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin, Elevated circulating alkaline phosphatase concentration, Renal cyst	OMIM:174050
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Recurrent bacterial infections	OMIM:613495
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Proximal placement of thumb, Tooth agenesis, Wide mouth, Long ph...	ORPHA:818
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anemia, Hypokalemia, Clubbing of fingers, Hypocalcemia, Clubbing, Hypomagnesemia	OMIM:175500
Tuberous Sclerosis 1	Dental enamel pits, Shagreen patch, Gingival fibromatosis	OMIM:191100
Cholestasis-Lymphedema Syndrome	Jaundice, Reduced bone mineral density, Hyperlipidemia, Portal hypertension, Abnormality of urine...	ORPHA:1414
Estrogen Resistance	Osteopenia, Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Elevated ...	OMIM:615363
Primary Intestinal Lymphangiectasia	Anemia, Hypocalcemia, Decreased proportion of CD3-positive T cells, Hypoproteinemia, Reduced prop...	ORPHA:90362
Sick Sinus Syndrome 4	Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma...	OMIM:619464
Mucolipidosis Ii Alpha/Beta	Osteopenia, Congestive heart failure, Enlarged kidney, Hepatomegaly, Aortic regurgitation, Pathol...	OMIM:252500
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	High, narrow palate, Thick lower lip vermilion, Clinodactyly of the 5th finger, Delayed eruption ...	ORPHA:369950
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteopenia, Hypogonadism, Delayed puberty, Osteoporosis	OMIM:615270
Adnp Syndrome	Polydactyly, Advanced eruption of teeth, Thick lower lip vermilion, Sandal gap, Inguinal hernia, ...	ORPHA:404448
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Acute kidney injury, Exercise-induced myoglobinuria, Elevated circulating hepatic transaminase co...	ORPHA:284426
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dyspla...	OMIM:263200
Long Qt Syndrome 9	Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia...	OMIM:611818
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Inguinal hernia, Tooth malposition, Failure of eruption of permanent teeth, Bifid uvula, Cleft pa...	ORPHA:2250
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Long philtrum, Thick lower lip vermilion, Narrow mouth, Mesiodens	ORPHA:314647
Illum Syndrome	Calcinosis, Arthrogryposis multiplex congenita, Bradycardia	OMIM:208155
Congenital Heart Defects And Skeletal Malformations Syndrome	Congenital diaphragmatic hernia, Thin vermilion border, Clinodactyly of the 5th finger, Sandal ga...	OMIM:617602
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Congestive heart failure, Enlarged kidney, Heavy proteinuria, Tricuspid regurgitation, Pulmonary ...	ORPHA:505248
Dubowitz Syndrome	Clinodactyly of the 5th finger, Inguinal hernia, Delayed eruption of teeth, Recurrent infections,...	OMIM:223370
Orofaciodigital Syndrome Xiv	Supernumerary tooth, Preaxial polydactyly, Aplasia of the epiglottis, Postaxial hand polydactyly,...	OMIM:615948
Gaucher Disease Type 1	Delayed puberty, Decreased HDL cholesterol concentration, Erlenmeyer flask deformity of the femur...	ORPHA:77259
Cinca Syndrome	Reduced bone mineral density, Anemia, Lymphadenopathy, Joint dislocation, Elevated circulating C-...	ORPHA:1451
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent otitis media, Pyoderma, Recurrent urinary tract infections, Meningitis, Sinusitis, Sept...	OMIM:307200
Cholestasis-Lymphedema Syndrome	Jaundice, Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Splenomegaly, ...	OMIM:214900
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Decreased liver function, Jaundice, Intrahepatic cholestasis, Elevated circulating alkaline phosp...	OMIM:617093
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Osteopenia, Pancytopenia, Portal hypertension, Bone marrow hypocellularity, Abnormally low T cell...	OMIM:617341
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypocalcemia, Abnormal renal morphology, Hypoproteinemia, Postaxial hand polydactyly, Hydronephro...	ORPHA:1655
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentration, Polyuria, H...	OMIM:618183
Developmental And Epileptic Encephalopathy 101	Limb joint contracture, Third degree atrioventricular block, Bradycardia	OMIM:619814
Hyperparathyroidism 2 With Jaw Tumors	Parathyroid carcinoma, Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papi...	OMIM:145001
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Finger joint contracture, Short femur, Symphalangism of the thumb, Joint stiffness, Increased fem...	OMIM:620494
Cardiomyopathy, Dilated, 1A	Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr...	OMIM:115200
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac...	ORPHA:70592
Orofaciodigital Syndrome Vi	Fibular aplasia, Radial deviation of finger, 11 pairs of ribs, Tibial bowing, Postaxial hand poly...	OMIM:277170
Rhabdoid Tumor	Renal neoplasm, Anemia, Lymphadenopathy, Hematuria, Thrombocytopenia, Hypercalcemia	ORPHA:69077
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia, Nephrocalcinosis	OMIM:211000
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Genu valgum, Small pituitary gland, Osteoporosis, Micropenis	OMIM:614880
Coffin-Siris Syndrome	Thick lower lip vermilion, Delayed eruption of teeth, Recurrent infections, Clinodactyly, Wide mo...	ORPHA:1465
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Bradycardia, Hypomethioninemia, Acute kidney injury, Hemolytic-uremic syndrome, Cystathioninuria,...	OMIM:277400
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Jaundice, Elevated circulating alkaline phosphatase concentration, Hypokalemia, Renal insufficien...	OMIM:613095
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Periostitis, Fused cervical vertebrae, Elevated circulating C-reactive protein concen...	OMIM:612852
Scalp-Ear-Nipple Syndrome	Recurrent urinary tract infections, Abnormality of the dentition, Delayed eruption of teeth	ORPHA:2036
Congenital Disorder Of Glycosylation, Type Iiw	Supernumerary tooth, Recurrent otitis media, Inguinal hernia, Ankyloglossia, Osteoporosis, Microg...	OMIM:619525
Bruck Syndrome 2	Osteopenia, Pterygium, Elbow flexion contracture, Femoral bowing, Flexion contracture, Hydroxypro...	OMIM:609220
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Joint contracture, Inguinal hernia, Bradycardia	OMIM:614498
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections	OMIM:616022
Chilton-Okur-Chung Neurodevelopmental Syndrome	Wide mouth, Joint hypermobility, Cone-shaped epiphysis, Agenesis of incisor, Short finger, Short ...	OMIM:619841
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Proximal placement of thumb, Dislocated radial head, Long philtr...	OMIM:122470
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Sepsis, Recurrent otitis media, Recurrent lower respiratory tract infections, Recurrent tonsillit...	ORPHA:183675
Linear Skin Defects With Multiple Congenital Anomalies 3	Delayed eruption of primary teeth	OMIM:300952
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Short-Rib Thoracic Dysplasia 12	Short finger, Inguinal hernia, Short long bone, Median cleft palate, Hypoplastic scapulae, Bowing...	OMIM:269860
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Rocker bottom foot, Anemia, Hypospadias, Hypocalcemia, Hyperextensibility of the finger joints, H...	ORPHA:163979
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Widened distal phalanges, Broad distal phalanx of finger, Dental crowding, Broad thumb, Syndactyl...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Widened distal phalanges, Broad distal phalanx of finger, Dental crowding, Broad thumb, Syndactyl...	ORPHA:353277
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia	OMIM:188740
Seizures-Scoliosis-Macrocephaly Syndrome	Overlapping toe, Reduced bone mineral density, Abnormality of the kidney	ORPHA:466926
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Dental crowding, Internally rotated shoulders, Wide mouth, Joint hypermobility, Inguinal hernia, ...	OMIM:619503
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Osteopetrosis, Autosomal Recessive 7	Femur fracture, Osteopetrosis, Hypocalcemic seizures, Anemia, Abnormal trabecular bone morphology...	OMIM:612301
Combined Immunodeficiency Due To Zap70 Deficiency	Chronic oral candidiasis, Stomatitis, Chronic mucocutaneous candidiasis, Recurrent bacterial skin...	ORPHA:911
Richards-Rundle Syndrome	Joint stiffness, Reduced bone mineral density, Ketonuria, Hypergonadotropic hypogonadism	ORPHA:1399
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto...	OMIM:609441
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Abnormality of primary teeth, Incisor macrodontia, High palate, Tented upper lip vermilion, Thin ...	ORPHA:438216
Pitt-Hopkins Syndrome	Abnormal palate morphology, Short metatarsal, Short philtrum, Tooth malposition, Failure of erupt...	ORPHA:2896
Complement Factor I Deficiency	Recurrent otitis media, Recurrent meningococcal disease, Recurrent urinary tract infections, Recu...	OMIM:610984
Cholera	Acute kidney injury, Hypokalemia, Hypocalcemia, Hyponatremia, Abnormality of renal excretion, Abn...	ORPHA:173
Senior-Loken Syndrome 9	Osteopenia, Polydactyly, Nephronophthisis, Hypoplasia of the femoral head, Hypogonadism, Stage 5 ...	OMIM:616629
Familial Adenomatous Polyposis	Supernumerary tooth, Lipoma, Eruption failure, Odontoma, Abnormality of the dentition, Abnormal c...	ORPHA:733
Short Qt Syndrome 2	Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde...	OMIM:609621
Restrictive Dermopathy 1	Rocker bottom foot, Short clavicles, Wide anterior fontanel, Osteolytic defects of the distal pha...	OMIM:275210
Peroxisome Biogenesis Disorder 5A (Zellweger)	Persistent open anterior fontanelle, Increased circulating lactate dehydrogenase concentration, R...	OMIM:614866
Mitochondrial Complex I Deficiency, Nuclear Type 37	Hypospadias, Inguinal hernia, Bradycardia, Pulmonary arterial hypertension, Failure to thrive	OMIM:619272
Specc1L-Related Hypertelorism Syndrome	Orofacial cleft, Advanced eruption of teeth, Thin vermilion border, Clinodactyly of the 5th finge...	ORPHA:1519
Infection-Related Hemolytic Uremic Syndrome	Hyperkalemia, Acute kidney injury, Decreased urine output, Hypocalcemia, Oliguria, Anuria, Nephro...	ORPHA:544482
Aspartylglucosaminuria	Abnormal cortical bone morphology, Inguinal hernia, Arthritis, Gingival overgrowth, Mandibular pr...	ORPHA:93
Glycosylphosphatidylinositol Biosynthesis Defect 16	Elevated circulating alkaline phosphatase concentration	OMIM:617816
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Abnormality of connective tissue, Rheumatoid arthritis, Failure to...	ORPHA:79128
Long Qt Syndrome 5	Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,...	OMIM:613695
Dyskeratosis Congenita, Autosomal Dominant 1	Carious teeth, Premature loss of teeth, Osteoporosis, Oral leukoplakia	OMIM:127550
Renal Cysts And Diabetes Syndrome	Stage 5 chronic kidney disease, Abnormality of the kidney, Maturity-onset diabetes of the young, ...	OMIM:137920
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Sick sinus syndrome, Bradycardia, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval	ORPHA:542306
Congenital Disorder Of Glycosylation, Type Iio	Elevated alkaline phosphatase of bone origin, Elevated circulating hepatic transaminase concentra...	OMIM:616828
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Jaundice, Elevated circulating hepatic transaminase concentration, Hypocalcemia, Hypoproteinemia,...	ORPHA:26793
Brugada Syndrome	Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc...	ORPHA:130
Kaposiform Lymphangiomatosis	Enlarged kidney, Epidural hemorrhage, Fractures of the long bones, Epistaxis, Subconjunctival hem...	ORPHA:464329
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Acute kidney injury, Myoglobinuria, Supraventricular tachycardia, Premature ventric...	ORPHA:423
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Osteoarthritis of the elbow, Knee osteoarthritis, Bone cyst, Osteoporosis, Coxa vara, Camptodacty...	ORPHA:2848
D-Glyceric Aciduria	Elevated circulating D-glyceric concentration, Nonketotic hyperglycinemia, Bradycardia, Failure t...	OMIM:220120
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ...	OMIM:612240
Congenital Disorder Of Glycosylation, Type Iiaa	Elevated circulating alkaline phosphatase concentration, Unilateral renal agenesis, Knee flexion ...	OMIM:620454
Loeys-Dietz Syndrome 3	Retrognathia, Arachnodactyly, Bifid uvula, Umbilical hernia, Joint hypermobility, Cystocele, Cran...	OMIM:613795
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly, Osteolysis	ORPHA:391
Long Qt Syndrome 8	Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card...	OMIM:618447
Progressive Familial Heart Block, Type Ii	Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc...	OMIM:140400
Felty Syndrome	Anemia, Lymphadenopathy, Arthritis, Recurrent urinary tract infections, Abnormal lymphocyte morph...	ORPHA:47612
Helsmoortel-Van Der Aa Syndrome	Sandal gap, Prominent fingertip pads, Everted lower lip vermilion, Microdontia, Short lower limbs...	OMIM:615873
Double Outlet Right Ventricle	Hypoparathyroidism, Abnormality of cartilage of external ear, Hypocalcemia, Truncus arteriosus, A...	ORPHA:3426
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cardiac arrest, Hypotension, Bradycardia	ORPHA:70587
Primary Hyperoxaluria	Rootless teeth, Abnormality of the dentition, Generalized osteosclerosis, Abnormal dental pulp mo...	ORPHA:416
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Large knee, Reduced bone mineral density, Metaphyseal chondrodysplasia, Enlargement of the wrists	ORPHA:83629
46,Xx Gonadal Dysgenesis	Osteopenia, Delayed puberty, Reduced bone mineral density, Osteoporosis of vertebrae, Arachnodact...	ORPHA:243
Proximal Renal Tubular Acidosis	Reduced bone mineral density, Enamel hypomineralization	ORPHA:47159
Difference Of Sex Development-Intellectual Disability Syndrome	Reduced bone mineral density, Genu valgum, Spina bifida occulta, Hypoplasia of penis, Hypogonadism	ORPHA:2983
Noonan Syndrome 1	High, narrow palate, Radial deviation of finger, High palate, Synovitis, Micrognathia, Cleft pala...	OMIM:163950
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Abnormal bone ossification, Generalized bone demineralization, Abnormal diaphysis morphology, Ele...	ORPHA:73230
Free Sialic Acid Storage Disease	Nephrotic syndrome, Proteinuria, Reduced bone mineral density, Splenomegaly	ORPHA:834
Hermansky-Pudlak Syndrome	Abnormal dental enamel morphology	ORPHA:79430
Sick Sinus Syndrome 1	Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove...	OMIM:608567
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy	Elevated circulating alkaline phosphatase concentration	OMIM:616917
Spondyloepimetaphyseal Dysplasia, Shohat Type	Narrow greater sciatic notch, Delayed epiphyseal ossification, Flared metaphysis, Short ribs, Cen...	OMIM:602557
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, B lymphocytopenia, Myelofibrosis,...	OMIM:301078
Campomelic Dysplasia	Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Tracheobronchomalaci...	OMIM:114290
Pallister-Hall Syndrome	Short 4th metacarpal, Preaxial polydactyly, Y-shaped metatarsals, Oligodactyly, Postaxial hand po...	OMIM:146510
Hypothyroidism Due To Tsh Receptor Mutations	Bradycardia, Increased circulating thyroglobulin concentration, Delayed proximal femoral epiphyse...	ORPHA:90673
Peters-Plus Syndrome	Limited elbow movement, Square pelvis bone, Proximal placement of thumb, Short metacarpal, Syndac...	OMIM:261540
Cerebrocostomandibular Syndrome	Clinodactyly of the 5th finger, Cleft soft palate, Calcaneal epiphyseal stippling, Short hard pal...	OMIM:117650
Fructose Intolerance, Hereditary	Bicarbonaturia, Jaundice, Elevated circulating hepatic transaminase concentration, Reduced hepati...	OMIM:229600
Spinocerebellar Ataxia-Dysmorphism Syndrome	Reduced bone mineral density, Cubitus valgus, Spina bifida occulta, Slender long bone, Genu recur...	ORPHA:1185
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Jaundice, Elevated circulating alkaline phosphatase con...	ORPHA:186
Classic Galactosemia	Delayed puberty, Reduced bone mineral density, Elevated circulating hepatic transaminase concentr...	ORPHA:79239
Schinzel-Giedion Syndrome	Retrognathia, Stiff elbow, Broad alveolar ridges, Tibial bowing, Wide mouth, Umbilical hernia, Sh...	ORPHA:798
Weill-Marchesani Syndrome 1	Broad phalanges of the hand, Patent ductus arteriosus, Broad metacarpals, Broad metatarsal, Joint...	OMIM:277600
Cooper-Jabs Syndrome	Reduced bone mineral density, Abnormal hip bone morphology, Proximal placement of thumb, Missing ...	ORPHA:1488
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Inguinal hernia, Tracheomalacia, Hypodontia, High palate, Ankylo...	ORPHA:2745
Werner Syndrome	Hypertriglyceridemia, Reduced bone mineral density, Osteoporosis, Elevated circulating alanine am...	OMIM:277700
Sepsis In Premature Infants	Hepatomegaly, Elevated circulating C-reactive protein concentration, Bradycardia, Oliguria, Decre...	ORPHA:90051
Liver Disease, Severe Congenital	Elevated circulating hepatic transaminase concentration, Lymphocytosis, Hypoproteinemia, Hyperamm...	OMIM:619991
Osteootohepatoenteric Syndrome	Reduced bone mineral density, Anemia, Increased serum bile acid concentration, Hypokalemia, Prolo...	OMIM:619377
22Q11.2 Deletion Syndrome	Multiple suture craniosynostosis, Arachnodactyly, Splenomegaly, Multiple renal cysts, Joint hyper...	ORPHA:567
Non-Functioning Paraganglioma	Hematuria, Elevated urinary epinephrine level, Elevated urinary norepinephrine level, Paraganglio...	ORPHA:94080
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Hypoparathyroidism, Unilateral renal agenesis, Hypocalcemia, Polycystic ki...	ORPHA:2237
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death	OMIM:600919
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hyperprostaglandinuria, Hypocalcemia, Hypercalciuria, Abnormal renal tubular resorption, Hypermag...	ORPHA:73224
Czech Dysplasia	Short metatarsal, Flat capital femoral epiphysis, Narrow iliac wing, Limitation of joint mobility...	OMIM:609162
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Arrhythmia, Cardiomyopathy, Bradycardia	OMIM:609286
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Generalized bone demineralization, Mucopolysacchariduria, Nephrotic s...	OMIM:215250
Purine Nucleoside Phosphorylase Deficiency	Recurrent lower respiratory tract infections, Recurrent urinary tract infections, Sinusitis, Recu...	OMIM:613179
Renal-Hepatic-Pancreatic Dysplasia 2	Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Pulmonic stenosis, Aortic valve steno...	OMIM:615415
Griscelli Syndrome, Type 2	Recurrent bacterial infections	OMIM:607624
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Decreased glomerular filtration rate, Hypertension, Epistaxis, Oliguria, Elevated ci...	ORPHA:340
Hutchinson-Gilford Progeria Syndrome	Retrognathia, Reduced bone mineral density, Dental crowding, Limitation of movement at ankles, Jo...	ORPHA:740
Graft Versus Host Disease	Limited elbow movement, Dupuytren contracture, Jaundice, Elevated circulating hepatic transaminas...	ORPHA:39812
Pseudo-Torch Syndrome 2	Hepatomegaly, Cerebral hemorrhage, Abnormal renal corticomedullary differentiation, Bradycardia	OMIM:617397
Immunodeficiency With Hyper-Igm, Type 1	Chronic oral candidiasis, Sepsis, Pneumocystis carinii pneumonia, Recurrent lower respiratory tra...	OMIM:308230
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Renal tubular acidosis, Hypercalciuria, Nephrocalcinosis, Hypercalcemia, Hyperparathyroidism	OMIM:239199
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Contracture of the proximal interphalangeal joint of the 5th finger, Widely spaced teeth, Thick l...	OMIM:280000
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Congenital diaphragmatic hernia, Short greater sciatic notch, Flare...	OMIM:312870
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Bradycardia, Elevated circulating creatine kinase concentration, Hy...	OMIM:618775
Incontinentia Pigmenti	Scarring, Delayed eruption of teeth, Conical tooth, Oligodontia, Hypodontia	OMIM:308300
Multiple Endocrine Neoplasia Type 1	Adrenocortical abnormality, Reduced bone mineral density, Pheochromocytoma, Pituitary growth horm...	ORPHA:652
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P...	OMIM:614021
Adrenomyodystrophy	Primary adrenal insufficiency, Reduced bone mineral density, Abnormality of the urinary system, M...	ORPHA:977
Porphyria, Congenital Erythropoietic	Osteopenia, Erythrodontia, Corneal scarring, Pathologic fracture, Atypical scarring of skin, Oste...	OMIM:263700
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Joint hypermobility, Slender long bone, Elevated circulating alkaline phosphatase concentration, ...	OMIM:618590
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Elevated circulating alkaline phosphatase concentration, Elevated circulating creatine kinase con...	OMIM:615424
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Abnormal circulating lipid concentration, Reduced bone mineral density, Joint stiffness, Flexion ...	ORPHA:1979
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia, Equinus calcaneus, Chronic hepatic failure, Hypoparathyroidism	ORPHA:746
Craniofacioskeletal Syndrome	Clinodactyly of the 5th finger, Hypospadias, Hypocalcemia, Narrow iliac wing, Short palm, Hydrone...	OMIM:300712
Igg4-Related Kidney Disease	Enlarged kidney, Pericarditis, Elevated circulating creatinine concentration, Urinary bladder inf...	ORPHA:449395
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Lysinuric Protein Intolerance	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Argininuria, Elevated circulating ...	ORPHA:470
Arterial Calcification, Generalized, Of Infancy, 2	Congestive heart failure, Hypophosphatemic rickets, Reduced left ventricular ejection fraction, S...	OMIM:614473
Doors Syndrome	Aplasia/Hypoplasia of the phalanges of the 2nd toe, Broad alveolar ridges, Abnormal finger morpho...	ORPHA:79500
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
Cog4-Cdg	Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline phosphatas...	ORPHA:263501
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Polydactyly, Supernumerary tooth, Retrognathia, Widely spaced teeth, Short 5th toe, 2-4 toe cutan...	ORPHA:268261
Vici Syndrome	Everted upper lip vermilion, Chronic mucocutaneous candidiasis, High palate, Median cleft palate,...	OMIM:242840
8Q24.3 Microdeletion Syndrome	Rocker bottom foot, Joint hypermobility, Short 5th finger, Long philtrum, Long toe, Inguinal hern...	ORPHA:508488
Say-Barber-Miller Syndrome	Thin vermilion border, Panniculitis, Patellar hypoplasia, Tooth malposition, Elbow flexion contra...	ORPHA:3132
Isolated Thyroid-Stimulating Hormone Deficiency	Bradycardia, Abnormal circulating thyroglobulin concentration, Failure to thrive, Delayed proxima...	ORPHA:90674
Tetrasomy 9P	Amelogenesis imperfecta, Clinodactyly of the 5th finger, Abnormal number of permanent teeth, Shor...	ORPHA:3310
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Ankle flexion contracture, Reduced bone mineral density, Hip contracture, Knee flexion contractur...	OMIM:620232
Femoral-Facial Syndrome	Limited elbow movement, Aplasia/hypoplasia of the femur, Short humerus, Syndactyly, Absent verteb...	OMIM:134780
Williams-Beuren Syndrome	Osteopenia, Thick lower lip vermilion, Clinodactyly of the 5th finger, Recurrent otitis media, In...	OMIM:194050
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur...	OMIM:610193
Pgm3-Cdg	Sepsis, Recurrent infections, High palate, Chronic sinusitis, Recurrent viral infections, Recurre...	ORPHA:443811
Ethylene Glycol Poisoning	Hyperkalemia, Renal tubular epithelial necrosis, Hematuria, Renal tubular dysfunction, Hypocalcem...	ORPHA:31826
Ctcf-Related Neurodevelopmental Disorder	Sandal gap, Joint contracture of the 5th finger, Prominent fingertip pads, Microdontia, Long phil...	ORPHA:363611
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Vesicoureteral reflux, Shortening of all distal phalanges of the fingers, Broad hallux, Left unic...	OMIM:614749
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Elevated circulating creatine kinase concentration, Sinus bradycardia, Syncope, Palpitations, Sec...	OMIM:616812
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Dental crowding, Cleft upper lip, Cutaneous finger syndactyly, C...	OMIM:219000
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Anemia, 11 pairs of ribs, Elevated circulating hepatic transaminase concentration, Accessory sple...	OMIM:620005
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Hepatoerythropoietic Porphyria	Osteopenia, Scarring, Erythrodontia, Scarring alopecia of scalp, Recurrent bacterial skin infecti...	ORPHA:95159
Williams Syndrome	Everted lower lip vermilion, Microdontia, Joint stiffness, Wide mouth, Umbilical hernia, Long phi...	ORPHA:904
Greenberg Dysplasia	Short ribs, Short long bone, Decreased skull ossification, Short metacarpal, Multiple prenatal fr...	OMIM:215140
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Femoral bowing, Bifid first metacarpal, Short metacarpal, Short humerus, Hip...	OMIM:210710
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Short tibia, Talipes equinovarus	OMIM:620306
Denys-Drash Syndrome	Congenital diaphragmatic hernia, Enlarged kidney, Posterolateral diaphragmatic hernia, Hypertensi...	OMIM:194080
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Anemia, Generalized lymphadenopathy, Elevated circulati...	ORPHA:829
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Paroxysmal ventricular tachycardia, Right bundle branch block, Tricuspid re...	OMIM:619897
Immunodeficiency 23	Recurrent Staphylococcus aureus infections, Persistent EBV viremia, Chronic mucocutaneous candidi...	OMIM:615816
Xp21 Deletion Syndrome	Hypertriglyceridemia, Reduced bone mineral density, Elevated circulating creatine kinase concentr...	ORPHA:261476
Ficolin 3 Deficiency	Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat...	OMIM:613860
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Jaundice, Hype...	OMIM:235555
Necrotizing Enterocolitis	Bradycardia, Hypotension, Hyponatremia, Small for gestational age, Shock	ORPHA:391673
Intellectual Developmental Disorder, Autosomal Dominant 54	Dental crowding, Widely spaced teeth, Delayed eruption of primary teeth	OMIM:617799
Intellectual Developmental Disorder, Autosomal Dominant 53	Joint hypermobility, Short femur, Genu valgum	OMIM:617798
Lujo Hemorrhagic Fever	Myocarditis, Stiff neck, Elevated circulating C-reactive protein concentration, Bradycardia, Hypo...	ORPHA:319213
Alg9-Cdg	Enlarged kidney, Abnormal bone ossification, Hepatomegaly, Tricuspid regurgitation, Omphalocele, ...	ORPHA:79328
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Abnormal renal morphology, Delayed ossification of carpal bones, Short toe, Short distal phalanx ...	OMIM:239300
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Chronic mucocutaneous candidiasis, Abnormal pelvic girdle bone morphology, Sinusitis, Recurrent v...	OMIM:102700
Pallister-Killian Syndrome	Congenital diaphragmatic hernia, Everted lower lip vermilion, Bifid uvula, Wide mouth, Umbilical ...	OMIM:601803
Small Cell Carcinoma Of The Bladder	Hematuria, Recurrent urinary tract infections, Dysuria, Hypercalcemia	ORPHA:284400
Whim Syndrome	Sepsis, Severe periodontitis, Parotitis, Sinusitis, Recurrent pneumonia, Recurrent upper respirat...	ORPHA:51636
Aplasia Of Lacrimal And Salivary Glands	Carious teeth	OMIM:180920
Catel-Manzke Syndrome	Genu valgum, Clinodactyly of the 5th finger, Short metacarpal, Camptodactyly, Ulnar deviation of ...	OMIM:616145
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Delayed puberty, Absence of secondary sex characteristics, Reduced bone mineral density, Anterior...	ORPHA:2235
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Increased serum testosterone level, Decreased circulating ACTH concentration, Pigment...	OMIM:610489
Ectodermal Dysplasia-Skin Fragility Syndrome	Scarring, Cheilitis, Sepsis, Abnormal tongue morphology, Abnormality of the dentition, Abnormal d...	ORPHA:158668
Weill-Marchesani Syndrome 2	Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the hand, Patent d...	OMIM:608328
Senior-Boichis Syndrome	Elevated circulating hepatic transaminase concentration, Anemia, Tubular luminal dilatation, Chro...	ORPHA:84081
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent pneumonia, Recurrent bacterial infections, Recurrent tonsillitis	OMIM:613779
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Joint hypermobility, Recurrent joint dislocation, Reduced bone mineral density, Recurrent fractures	OMIM:619115
Fraser Syndrome	Orofacial cleft, Finger syndactyly, Dental crowding, High palate, Omphalocele, Cleft upper lip, W...	ORPHA:2052
Xq12-Q13.3 Duplication Syndrome	Decreased serum insulin-like growth factor 1, 2-3 toe syndactyly, Elevated circulating creatine k...	ORPHA:314389
Gorlin Syndrome	Orofacial cleft, Odontogenic keratocysts of the jaw, Mandibular prognathia, Carious teeth, Arachn...	ORPHA:377
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Intrah...	OMIM:605814
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Osteoporosis, Long fingers, Long hallux, Recurrent fract...	OMIM:309583
Congenitally Corrected Transposition Of The Great Arteries	Bradycardia, Pulmonic stenosis, Heart murmur, Mobitz I atrioventricular block, Aortic regurgitati...	ORPHA:216694
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Partial development of the penile shaft, Bradycardia	OMIM:608800
Boudin-Mortier Syndrome	Pseudoepiphysis of the 1st metacarpal, Elevated alkaline phosphatase of bone origin, Pseudoepiphy...	OMIM:619543
Restrictive Dermopathy	Osteopenia, Temporomandibular joint ankylosis, Narrow mouth, Decreased skull ossification, Arthro...	ORPHA:1662
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal bone ossification, Reduced bone mineral density, Hypoplastic iliac wing, Tibial bowing, ...	ORPHA:93315
Igg4-Related Thyroid Disease	Euthyroid goiter, Hypocalcemia, Thyroiditis, Thyrotoxicosis with diffuse goiter, Abnormal pituita...	ORPHA:64744
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Omphalocele, Craniosynostosis, Cystic renal dysplasia	OMIM:200995
Tooth Agenesis, Selective, 4	Peg-shaped maxillary lateral incisors, Abnormality of primary teeth, Agenesis of permanent teeth,...	OMIM:150400
Myeloproliferative Disease, Autosomal Recessive	Myeloproliferative disorder, Reduced leukocyte alkaline phosphatase	OMIM:254700
Pelvis-Shoulder Dysplasia	Aplasia/hypoplasia of the femur, Prominent protruding coccyx, Aplasia/Hypoplasia of the scapulae,...	ORPHA:2839
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Decreased liver function, Acute kidney injury, Hypocalcemia, Elevated circulating c...	ORPHA:466650
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Splenic cyst, Increas...	OMIM:610199
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Retrognathia, Sandal gap, Dislocated radial head, Prominent fing...	OMIM:135900
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Enlarged polycystic ovaries	ORPHA:90301
Proteus Syndrome	Macrodactyly, Lipoma, Abnormal finger morphology, Calvarial hyperostosis, Tooth agenesis, Joint s...	ORPHA:744
Phakomatosis Pigmentovascularis	Reduced bone mineral density	ORPHA:2875
Hyperparathyroidism 1	Hypercalcemia, Primary hyperparathyroidism	OMIM:145000
Congenital Disorder Of Glycosylation, Type Im	Failure to thrive, Dilated cardiomyopathy, Increased circulating free fatty acid level, Bradycardia	OMIM:610768
Floating-Harbor Syndrome	Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Microdontia, Broad th...	OMIM:136140
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Cheilitis, Inguinal hernia, Recurrent infections, Abnormal dental enamel morphology, Oligodactyly...	ORPHA:2273
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorp...	OMIM:145981
Agammaglobulinemia 1, Autosomal Recessive	Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis,...	OMIM:601495
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Sepsis, Neonatal sepsis, Panniculitis, Recurrent lower respiratory tract infections, Inguinal her...	OMIM:612541
Craniotubular Dysplasia, Ikegawa Type	Diaphyseal dysplasia, Broad ischia, Broad femoral neck, Short palm, Metaphyseal dysplasia, Broad ...	OMIM:619727
Spondyloocular Syndrome	Osteopenia, Femur fracture, Arachnodactyly, Long fingers, Overlapping toe, Long toe, Thin bony co...	OMIM:605822
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Hydronephrosis, Urethral atresia	OMIM:314390
Leprechaunism	Enlarged kidney, Hepatomegaly, Hypokalemia, Long penis, Hypercalciuria, Decreased body weight, Hy...	ORPHA:508
Primary Ciliary Dyskinesia	Recurrent otitis media, Clubbing, Recurrent mycobacterial infections, Recurrent sinopulmonary inf...	ORPHA:244
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Neoplasm of the thyroid gland, Reduced bone mineral density, Recurrent fractures	ORPHA:137608
Acute Adrenal Insufficiency	Hyperkalemia, Delayed puberty, Normocytic anemia, Renal salt wasting, Hyperuricemia, Adrenal hypo...	ORPHA:95409
Leukocyte Adhesion Deficiency, Type Iii	Osteopetrosis, Recurrent bacterial infections, Sepsis	OMIM:612840
Dyskeratosis Congenita, Autosomal Dominant 3	Osteopenia, Aplastic anemia, Anemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Bone marrow h...	OMIM:613990
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent...	OMIM:612576
Odontoonychodermal Dysplasia	Smooth tongue, Conical incisor, Abnormality of primary teeth, Hypodontia, Agenesis of permanent t...	OMIM:257980
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Ankyloglossia, Carious teeth, Downturned corners of mouth, Bifid uvula, Micrognat...	OMIM:620186
Glycosylphosphatidylinositol Biosynthesis Defect 25	Ankle flexion contracture, Low alkaline phosphatase	OMIM:619985
Immunodeficiency With Hyper-Igm, Type 2	Recurrent upper and lower respiratory tract infections, Recurrent infection of the gastrointestin...	OMIM:605258
Ogden Syndrome	Enlarged kidney, Inguinal hernia, Polycystic kidney dysplasia, Hyperbilirubinemia, Supraventricul...	OMIM:300855
Hereditary Sensory And Autonomic Neuropathy Type 4	Recurrent Staphylococcus aureus infections, Abnormal hip bone morphology, Premature loss of teeth...	ORPHA:642
Cystic Fibrosis	Osteopenia, Nontuberculous mycobacterial pulmonary infection, Recurrent Staphylococcus aureus inf...	ORPHA:586
Yunis-Varon Syndrome	Rocker bottom foot, Broad secondary alveolar ridge, Absent sternal ossification, Abnormal finger ...	ORPHA:3472
Combined Oxidative Phosphorylation Defect Type 39	Congenital foot contractures, Bradycardia	ORPHA:565624
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Myelofibrosis, Bone marrow hypocellularity, ...	ORPHA:86843
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hepatomegaly, Polycystic kidney dysplasia, Portal hypertension, Aortic valve ste...	OMIM:208540
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Delayed puberty, Absence of secondary sex characteristics, Reduced bone mineral density, Hypernat...	ORPHA:289548
Cornelia De Lange Syndrome 6	Clinodactyly of the 5th finger, Inguinal hernia, Arachnodactyly, Short palm, Down-sloping shoulde...	OMIM:620568
Congenital Bile Acid Synthesis Defect Type 3	Jaundice, Hyperbilirubinemia, Elevated circulating alanine aminotransferase concentration, Hepato...	ORPHA:79302
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Delayed puberty, Absence of secondary sex characteristics, Reduced bone mineral density, Hypernat...	ORPHA:168558
Immunodeficiency 115 With Autoinflammation	Recurrent viral infections, Clubbing, Candida esophagitis, Recurrent bacterial infections	OMIM:620632
Cholestasis, Progressive Familial Intrahepatic, 8	Jaundice, Elevated circulating alkaline phosphatase concentration, Increased serum bile acid conc...	OMIM:619662
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Conjugated hyp...	OMIM:619484
Digeorge Syndrome	Anemia, Unilateral renal agenesis, Intervertebral disk degeneration, Renal insufficiency, Hypocal...	OMIM:188400
Immunodeficiency 116	Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory infections	OMIM:608957
Specific Granule Deficiency 1	Abnormal neutrophil count, Low neutrophil alkaline phosphatase, Hyposegmentation of neutrophil nu...	OMIM:245480
Floating-Harbor Syndrome	Short philtrum, Dislocated radial head, Short clavicles, Oligodontia, Short metacarpal, Microdont...	ORPHA:2044
Congenital Disorder Of Glycosylation, Type Iij	Elevated circulating alkaline phosphatase concentration, Elevated circulating hepatic transaminas...	OMIM:613489
Marshall-Smith Syndrome	Reduced bone mineral density, Slender long bone, Bowing of the long bones, Joint hypermobility, C...	ORPHA:561
Meckel Syndrome, Type 1	Postaxial polydactyly, Radial deviation of finger, Postaxial hand polydactyly, Bowing of the long...	OMIM:249000
Dyskeratosis Congenita, Autosomal Dominant 2	Aplastic anemia, Pancytopenia, Osteoporosis, Bone marrow hypocellularity, Leukopenia, Thrombocyto...	OMIM:613989
Agammaglobulinemia 2, Autosomal Recessive	Recurrent otitis media, Recurrent pneumonia, Recurrent respiratory infections, Meningitis, Recurr...	OMIM:613500
Genitopatellar Syndrome	Knee flexion contracture, Delayed eruption of teeth, Inferior pubic ramus hypoplasia, Hypoplastic...	OMIM:606170
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Hyperkalemia, Decreased liver function, Jaundice, Anemia, Elevated circulat...	ORPHA:275761
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Cleft lip, Notched primary central incisor	OMIM:620519
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Bradycardia, Hypertension, Corneal scarring, Retinal hemorrhage, Flexion contracture, Limited hip...	OMIM:614653
Leukocyte Adhesion Deficiency	Chronic oral candidiasis, Sepsis, Severe periodontitis, Recurrent aphthous stomatitis, Recurrent ...	ORPHA:2968
Sarcoidosis	Decreased liver function, Increased T cell count, Nephrocalcinosis, Leukopenia, Diabetes insipidu...	ORPHA:797
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hematuria, Glomerular sclerosis, Adrenal pheochromocytoma, Elevated urinary epinephrine level, El...	ORPHA:276621
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Hypertension, Ve...	ORPHA:1851
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Elevated circulating alkaline phosphatase concentration, Normochromic anemia, ...	ORPHA:247691
Beckwith-Wiedemann Syndrome	Congenital diaphragmatic hernia, Enlarged kidney, Ureteral duplication, Multiple renal cysts, Spl...	ORPHA:116
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Bradycardia	ORPHA:40366
Charge Syndrome	Polydactyly, Abnormal tibia morphology, Clinodactyly of the 5th finger, Abnormal soft palate morp...	ORPHA:138
Kindler Syndrome	Periodontitis, Carious teeth, Gingivitis, Oral leukoplakia	OMIM:173650
Wiedemann-Rautenstrauch Syndrome	Lipoatrophy, Hypoplastic facial bones, Short humerus, Long philtrum, Long toe, Clinodactyly, Genu...	OMIM:264090
Fanconi Anemia, Complementation Group R	Radial dysplasia, Anemia, Pelvic kidney, Bone marrow hypocellularity, Absent thumb	OMIM:617244
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Hereditary Pheochromocytoma-Paraganglioma	Hematuria, Extraadrenal pheochromocytoma, Glomerular sclerosis, Adrenal pheochromocytoma, Elevate...	ORPHA:29072
Parathyroid Carcinoma	Parathyroid carcinoma, Hypercalcemia, Hyperparathyroidism	OMIM:608266
Immunodeficiency 31B	Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections	OMIM:613796
Glucose-Galactose Malabsorption	Hematuria, Nephrolithiasis, Hypernatremia, Hypercalcemia, Renal insufficiency	ORPHA:35710
Immunodeficiency 35	Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterial infections, Recu...	OMIM:611521
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Gastrointestinal hemorrhage, Enlarged kidney, Increased serum bile acid conc...	ORPHA:731
Multiple Endocrine Neoplasia Type 2	Elevated circulating parathyroid hormone level, Elevated urinary catecholamine level, Elevated ur...	ORPHA:653
Hemihyperplasia-Multiple Lipomatosis Syndrome	Lipoatrophy, Enlarged kidney, Telangiectasia of the skin, Nephroblastoma, Multiple lipomas	ORPHA:276280
Marburg Hemorrhagic Fever	Hypokalemia, Bradycardia, Capillary leak, Arthritis, Hyperamylasemia, Hypotension, Hypovolemia, I...	ORPHA:99826
Agammaglobulinemia 3, Autosomal Recessive	Recurrent bronchitis, Recurrent otitis media, Recurrent lower respiratory tract infections, Recur...	OMIM:613501
Sheehan Syndrome	Orthostatic hypotension, Bradycardia, Hyposthenuria, Hyponatremia, Obesity, Palpitations	ORPHA:91355
Cornelia De Lange Syndrome	Congenital diaphragmatic hernia, Proximal placement of thumb, Oligodactyly, Joint stiffness, Long...	ORPHA:199
Multiple Endocrine Neoplasia Type 4	Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop...	ORPHA:276152
Glossopharyngeal Neuralgia	Syncope, Jaw claudication, Weight loss, Bradycardia	ORPHA:221098
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Anemia, Portal hypertension, Thrombocytopenia, Lymphopenia, Type I diabetes mellitus	OMIM:620365
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Spina bifida occulta, Abnormal rib morphology, Broad femoral neck, Thickened cortex o...	ORPHA:488434
Al Amyloidosis	Abnormality of the kidney, Renal interstitial amyloid deposits, Anemia, Increased circulating NT-...	ORPHA:85443
Crimean-Congo Hemorrhagic Fever	Hematemesis, Bradycardia, Hypertension, Epistaxis, Splenomegaly, Diffuse alveolar hemorrhage, Myo...	ORPHA:99827
Bile Acid Synthesis Defect, Congenital, 3	Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline phosphatase concentration, Hype...	OMIM:613812
Immunodeficiency 112	BCGitis, Recurrent lower respiratory tract infections, BCGosis, Chronic mucocutaneous candidiasis...	OMIM:620449
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Intermittent jaundice, Splenomegaly, Conjugated hyperbilirubinemia, Ele...	OMIM:601847
Proximal Spinal Muscular Atrophy	Bradycardia, Elbow flexion contracture, Flexion contracture, Knee flexion contracture, Multiple j...	ORPHA:70
Poland Syndrome	Reduced bone mineral density, Renal hypoplasia/aplasia, Short ribs, Ureterocele, Cone-shaped epip...	ORPHA:2911
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Foot joint contracture, Atrophic scars, Narrow mouth, Osteoporosis, Ankyloglossia, Ca...	ORPHA:79408
Trichohepatoneurodevelopmental Syndrome	Decreased liver function, Fibular bowing, Increased serum bile acid concentration, Clinodactyly o...	OMIM:618268
Chediak-Higashi Syndrome	Periodontitis, Recurrent infections, Recurrent systemic pyogenic infections, Gingivitis, Recurren...	OMIM:214500
Encephalitis Lethargica	Stiff neck, Urinary incontinence, Bradycardia	ORPHA:83600
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormal renal tubule morphology, Reduced bone mineral density, Abnormal hip bone morphology, Ara...	ORPHA:2720
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypocalciuria, Hypercalciuria, Nephrolithiasis, Hypercalcemia, Parathyroid adeno...	OMIM:145980
Immunodeficiency 31A	BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim...	OMIM:614892
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiomyopathy, Nephr...	OMIM:130650
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
Microphthalmia With Linear Skin Defects Syndrome	Congenital diaphragmatic hernia, Retrognathia, Abnormal dental enamel morphology, Mandibular apla...	ORPHA:2556
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ...	ORPHA:86841
Immunodeficiency With Hyper-Igm, Type 4	Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Osteomyelitis,...	OMIM:608184
Chédiak-Higashi Syndrome	Periodontitis, Atrophy of alveolar ridges, Recurrent infections, Gingival bleeding, Recurrent bac...	ORPHA:167
Wiedemann-Rautenstrauch Syndrome	Lipoatrophy, Retrognathia, Short humerus, Joint hypermobility, Long toe, Short philtrum, Congenit...	ORPHA:3455
Charge Syndrome	Delayed puberty, Absent tibia, Lymphopenia, Absent radius, Bifid femur, Hypoplasia of the ulna, D...	OMIM:214800
Fanconi Anemia, Complementation Group I	Hypoplasia of the radius, Decreased response to growth hormone stimulation test, Fused cervical v...	OMIM:609053
Biliary, Renal, Neurologic, And Skeletal Syndrome	Broad thumb, Prolonged neonatal jaundice, Splenomegaly, Syndactyly, Dark urine, Joint hypermobili...	OMIM:619534
Microphthalmia, Syndromic 1	Orofacial cleft, High, narrow palate, Radial deviation of finger, Recurrent otitis media, Tooth m...	OMIM:309800
Primary Sclerosing Cholangitis	Osteopenia, Jaundice, Elevated circulating hepatic transaminase concentration, Renal insufficienc...	ORPHA:171
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections	OMIM:233670
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Salmonella osteomyelitis,...	ORPHA:319552
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Genu valgum, Anemia, Metaphyseal sclerosis, Bowing of the long bones, Osteoporosis, B...	OMIM:612199
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Decreased serum zinc, Splenomegaly, Hypogonadism, Low alkaline phosphatase, Decreased serum testo...	OMIM:201100
Yellow Fever	Hematemesis, Acute kidney injury, Reduced left ventricular ejection fraction, Bradycardia, Capill...	ORPHA:99829
Whim Syndrome 1	Recurrent bacterial infections, Recurrent upper respiratory tract infections	OMIM:193670
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat...	ORPHA:75564
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Hypoplasia of the radius, Unilateral renal agenesis, Anemia of inadequate...	OMIM:614900
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Elevated circulating hepatic transaminase concentration, Portal hypertension, Bone marrow hypocel...	ORPHA:210136
Immunodeficiency With Hyper-Igm, Type 5	Recurrent upper and lower respiratory tract infections, Recurrent bacterial infections	OMIM:608106
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormality of the sphenoid sinus, Abnormal tibia morphology, Genu valgum, Bone cyst, High palate...	ORPHA:363700
Cholestasis, Benign Recurrent Intrahepatic, 2	Jaundice, Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentration, Conj...	OMIM:605479
Developmental And Epileptic Encephalopathy 95	Short 4th metacarpal, Clinodactyly of the 5th finger, Arthrogryposis multiplex congenita, Short f...	OMIM:618143
Bohring-Opitz Syndrome	Severe failure to thrive, Fixed elbow flexion, Bradycardia, Limitation of joint mobility, Bilater...	ORPHA:97297
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Polydactyly, Short femur, Short humerus, Flexion contracture	ORPHA:17
Isolated Biliary Atresia	Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Elev...	ORPHA:30391
Trichorhinophalangeal Syndrome, Type Ii	Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, 2-4 toe syndactyly, Syndact...	OMIM:150230
Immunodeficiency, Common Variable, 13	Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infections	OMIM:616873
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hyperprostaglandinuria, ...	OMIM:241200
X Small Rings	Reduced bone mineral density, Clinodactyly of the 5th finger, Upper limb undergrowth, 2-3 toe syn...	ORPHA:96201
Johanson-Blizzard Syndrome	Intrahepatic cholestasis, Clinodactyly of the 5th finger, Hypospadias, Primary hypothyroidism, Hy...	OMIM:243800
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Shortening of all distal phalanges of the fingers, Elevated circulating alkaline phosphatase conc...	OMIM:615716
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Hepatomegaly, Omphalocele, Pulmonic stenosis, Failure to thrive, Renal agenesis,...	OMIM:306955
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Patent ductus arteriosus, Flared metaphysis, Increased bone mineral density, Ectopic anterior pit...	OMIM:620558
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis	OMIM:613091
Pheochromocytoma--Islet Cell Tumor Syndrome	Elevated urinary norepinephrine level, Pheochromocytoma, Hypercalcemia, Proteinuria	OMIM:171420
Amyotrophic Lateral Sclerosis 20	Elevated circulating alkaline phosphatase concentration	OMIM:615426
Caroli Disease	Jaundice, Liver abscess, Intrahepatic cholestasis, Elevated circulating alkaline phosphatase conc...	ORPHA:53035
Schinzel-Giedion Midface Retraction Syndrome	Tibial bowing, Ureteral stenosis, Short distal phalanx of finger, Increased density of long bones...	OMIM:269150
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Central diabetes insipidus, Aplasia/Hypoplasia of the spleen, Non-caseating epithelio...	ORPHA:227990
Proteasome-Associated Autoinflammatory Syndrome 2	Recurrent viral infections, Clinodactyly, Lipodystrophy, Brachydactyly, Recurrent bacterial infec...	OMIM:618048
Vipoma	Increased circulating gonadotropin level, Intrahepatic cholestasis, Hypokalemia, Normochromic ane...	ORPHA:97282
Zollinger-Ellison Syndrome	Glucagonoma, Elevated circulating parathyroid hormone level, Neuroendocrine neoplasm, Jaundice, A...	ORPHA:913
Caroli Syndrome	Abnormality of the kidney, Liver abscess, Elevated circulating hepatic transaminase concentration...	ORPHA:480520
Isovaleric Acidemia	Pancytopenia, Hyperglycinuria, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Elevate...	OMIM:243500
Mirage Syndrome	Rocker bottom foot, Sepsis, Radial club hand, Recurrent bacterial infections, Recurrent urinary t...	OMIM:617053
Immunodeficiency 84	Recurrent bacterial infections, Persistent EBV viremia	OMIM:619437
Pallister-Hall Syndrome	Mesoaxial polydactyly, Oligodactyly, Broad thumb, Bifid uvula, Umbilical hernia, Polydactyly affe...	ORPHA:672
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Large for gestational age, Enlarged kidney, Inguinal hernia, Camptodactyly, Bifid ureter, Nephrob...	ORPHA:500095
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Central diabetes insipidus, Aplasia/Hypoplasia of the spleen, Non-caseating epithelio...	ORPHA:227982
Intrahepatic Cholestasis Of Pregnancy	Abnormal pineal melatonin secretion, Jaundice, Elevated circulating hepatic transaminase concentr...	ORPHA:69665
Monosomy 13Q34	Osteochondrosis, Postaxial hand polydactyly, Hypercalcemia, Fetal pyelectasis, Postaxial foot pol...	ORPHA:96168
Immunodeficiency With Hyper-Igm, Type 3	Recurrent bacterial infections	OMIM:606843
Glycosylphosphatidylinositol Biosynthesis Defect 11	Elevated circulating alkaline phosphatase concentration	OMIM:616025
Legionnaires Disease	Jaundice, Hematuria, Lymphadenopathy, Renal insufficiency, Hyponatremia, Bone marrow hypocellular...	ORPHA:549
Velocardiofacial Syndrome	Hypocalcemia, Hypoparathyroidism	OMIM:192430
Immunodeficiency 27B	Recurrent mycobacterium avium complex infections, Salmonella osteomyelitis, Recurrent mycobacteri...	OMIM:615978
Combined Oxidative Phosphorylation Deficiency 39	Congenital contracture, Joint contracture, Sinus bradycardia, Flexion contracture, Arthrogryposis...	OMIM:618397
Bare Lymphocyte Syndrome, Type Ii	Recurrent lower respiratory tract infections, Recurrent urinary tract infections, Chronic mucocut...	OMIM:209920
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Chronic oral candidiasis, Sepsis, Chronic mucocutaneous candidiasis, Recurrent bacterial skin inf...	ORPHA:276
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	4-hydroxyphenylacetic aciduria, Jaundice, Elevated circulating hepatic transaminase concentration...	OMIM:617156
Cernunnos-Xlf Deficiency	Recurrent viral infections, Recurrent bacterial infections	ORPHA:169079
Amoebiasis Due To Entamoeba Histolytica	Lung abscess, Liver abscess, Anemia, Elevated circulating hepatic transaminase concentration, Leu...	ORPHA:67
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Elevated ci...	OMIM:620481
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Sandal gap, Hypocalcemia, Toe clinodactyly, Long fingers, Hydronephrosis, Joint hypermobility, Cu...	OMIM:620330
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormal metaphysis morphology, Reduced bone mineral density, Anemia, Lymphopenia, Long fibula	ORPHA:935
Unclassified Myelodysplastic Syndrome	Abnormal circulating lactate dehydrogenase concentration, Bone marrow hypocellularity, Leukocytos...	ORPHA:98827
Griscelli Syndrome	Abnormal circulating lipid concentration, Jaundice, Lymphadenopathy, Bone marrow hypocellularity,...	ORPHA:381
Parenteral Nutrition-Associated Cholestasis	Jaundice, Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline ...	ORPHA:567983
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short femur, Short humerus, Tapered finger	OMIM:618367
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Recurrent bacterial infections	OMIM:610738
Refractory Anemia	Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq...	ORPHA:98826
Multiple Endocrine Neoplasia, Type I	Glucagonoma, Adrenocortical adenoma, Pancreatic islet cell adenoma, Pituitary prolactin cell aden...	OMIM:131100
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pancytopenia, Ele...	OMIM:615688
Fanconi Anemia, Complementation Group T	Anemia, Acute myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Duplication of thumb p...	OMIM:616435
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Bilateral fetal pyelectasis, Patent ductus arteriosus, Duplicated collecting system, Elbow flexio...	OMIM:300868
Somatostatinoma	Increased circulating gonadotropin level, Hypochromic microcytic anemia, Intrahepatic cholestasis...	ORPHA:97283
Fabry Disease	Abnormal circulating lipid concentration, Delayed puberty, Abnormal renal tubule morphology, Redu...	ORPHA:324
Mowat-Wilson Syndrome	Widely spaced teeth, Recurrent otitis media, Delayed eruption of teeth, Tooth malposition, Cleft ...	OMIM:235730
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Enlarged kidney, Penoscrotal hypospadias, Tracheomalacia, Patent...	OMIM:618280
Cutis Marmorata Telangiectatica Congenita	Reduced bone mineral density, Finger syndactyly, Hypothyroidism, Short lower limbs, Displacement ...	ORPHA:1556
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Dental crowding, Arachnodactyly, Bifid uvula, Syndactyly, Adducted thumb, Long toe, Short philtru...	ORPHA:261537
Meacham Syndrome	Enlarged kidney, Aplasia of the right hemidiaphragm, Aplasia of the left hemidiaphragm, Horseshoe...	OMIM:608978
Amed Syndrome, Digenic	Anemia, Acute myeloid leukemia, Adrenal hypoplasia, Bone marrow hypocellularity, Leukopenia, Thro...	OMIM:619151
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Bone marrow hypocellularity, Leukopenia, Monocytosis	OMIM:616871
3-Methylglutaconic Aciduria Type 7	3-Methylglutaconic aciduria, Infection associated neutropenia, Elevated circulating hepatic trans...	ORPHA:445038
Fanconi Anemia, Complementation Group C	Anemia, Ectopic kidney, Duplicated collecting system, Pancytopenia, Reticulocytopenia, Hypergonad...	OMIM:227645
Acute Erythroid Leukemia	Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia	ORPHA:318
Developmental And Epileptic Encephalopathy 80	Triphalangeal thumb, Increased urine alpha-ketoglutarate concentration, Short distal phalanx of f...	OMIM:618580
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ...	ORPHA:86839
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin concentration, Hyperbilirubinemia, Umbilical hernia, Bradycardia	OMIM:218700
Immunodeficiency 87 And Autoimmunity	Severe cytomegalovirus infection, Sepsis, Persistent EBV viremia, Recurrent viral infections, Cle...	OMIM:619573
Abnormal Hair, Joint Laxity, And Developmental Delay	Joint hypermobility, Sinus bradycardia, Mitral regurgitation, Tricuspid regurgitation	OMIM:261990
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Elevated circulating alpha-fetoprotein con...	OMIM:617243
Bone Marrow Failure Syndrome 2	Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia	OMIM:615715
Ppoma	Increased circulating gonadotropin level, Intrahepatic cholestasis, Adrenocortical adenoma, Inter...	ORPHA:97278
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Recurrent bacterial infections	OMIM:202700
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Overweight, Bradycardia	ORPHA:226307
Alkaptonuria	Reduced bone mineral density, Joint dislocation, Arthritis, Nephrolithiasis, Joint stiffness, Hyp...	ORPHA:56
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Delayed puberty, Absence of secondary sex characteristics, Reduced bone mineral density, Hypospad...	ORPHA:90796
Glucagonoma	Increased circulating gonadotropin level, Intrahepatic cholestasis, Normochromic anemia, Adrenoco...	ORPHA:97280
Hyperphosphatasia-Intellectual Disability Syndrome	Shortening of all distal phalanges of the fingers, Hydronephrosis, Hip dysplasia, Elevated circul...	ORPHA:247262
Spinal Cord Injury	Urinary retention, Hypercalcemia, Urinary bladder sphincter dysfunction	ORPHA:90058
Grfoma	Increased circulating gonadotropin level, Intrahepatic cholestasis, Adrenocortical adenoma, Pheoc...	ORPHA:97261
Ziegler-Huang Syndrome	Macrocytic anemia, Anterior pituitary hypoplasia, Persistence of hemoglobin F, Bone marrow hypoce...	OMIM:620501
Fanconi Anemia, Complementation Group F	Hypoplasia of the radius, Decreased response to growth hormone stimulation test, Anemia, Patent d...	OMIM:603467
Pheochromocytoma	Pheochromocytoma, Elevated urinary norepinephrine level, Renal artery stenosis, Hypercalcemia, Pr...	OMIM:171300
Atypical Werner Syndrome	Hypertriglyceridemia, Delayed puberty, Rocker bottom foot, Reduced bone mineral density, Hypogona...	ORPHA:79474
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia	OMIM:126320
Complement Factor B Deficiency	Recurrent meningococcal disease, Meningitis, Recurrent bacterial infections	OMIM:615561
Sotos Syndrome	Ureteral duplication, Prolonged neonatal jaundice, Congenital posterior urethral valve, Joint hyp...	ORPHA:821
Hypocomplementemic Urticarial Vasculitis	Arthritis, Meningitis, Recurrent bacterial infections	ORPHA:36412
Combined Oxidative Phosphorylation Deficiency 58	Elevated circulating alkaline phosphatase concentration, Hyperprolinemia, Hyperalaninemia, Lactic...	OMIM:620451
Fanconi Anemia, Complementation Group D2	Ectopic kidney, Aplasia of the 1st metacarpal, Bone marrow hypocellularity, Absent thumb, Absent ...	OMIM:227646
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Chronic oral candidiasis, Severe varicella zoster infection, Recurrent viral infections, Cellulit...	OMIM:606367
Mowat-Wilson Syndrome	Dental crowding, Everted lower lip vermilion, Bifid uvula, Syndactyly, Adducted thumb, Long toe, ...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Dental crowding, Abnormal jaw morphology, Arachnodactyly, Bifid uvula, Syndactyly, Adducted thumb...	ORPHA:261552
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Thyroid c...	ORPHA:3261
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Renal cortical cysts, Wide anterior fontanel, Vesicoureteral reflux, Elevated circulating alkalin...	OMIM:618548
3-Methylglutaconic Aciduria, Type Viii	Failure to thrive, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Bradycardia	OMIM:617248
Idiopathic Bronchiectasis	Recurrent Haemophilus influenzae infections, Clubbing, Recurrent lower respiratory tract infections	ORPHA:60033
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Syndactyly, Aminoaciduria, Ketonuria, Neut...	OMIM:614520
Reynolds Syndrome	Calcinosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia...	OMIM:613471
Cutis Laxa, Autosomal Recessive, Type Ib	Congenital diaphragmatic hernia, Pulmonary insufficiency, Scarring, Inguinal hernia, Bradycardia,...	OMIM:614437
Mirizzi Syndrome	Jaundice, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Dark urine...	ORPHA:521219
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Aplastic anemia, Pancytopenia, Bone marrow hypocellularity, Leukemia, Myeloid leukemia	OMIM:614743
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Decreased pineal volume, Focal segmental glomerulosclerosis, Nephrotic syndrome, Bone marrow hypo...	OMIM:301108
Neutropenia, Severe Congenital, X-Linked	Recurrent bacterial infections	OMIM:300299
X-Linked Severe Congenital Neutropenia	Recurrent bacterial infections	ORPHA:86788
Dyskeratosis Congenita, X-Linked	Anemia, Acute myeloid leukemia, Hypospadias, Pancytopenia, Pterygium, Phimosis, Osteoporosis, Bon...	OMIM:305000
Immunodeficiency 21	Recurrent mycobacterium avium complex infections, Recurrent viral infections, Recurrent fungal in...	OMIM:614172
Primary Hepatic Neuroendocrine Carcinoma	Elevated circulating hepatic transaminase concentration, Elevated alkaline phosphatase of hepatic...	ORPHA:100085
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Recurrent viral infections, Recurrent upper and lower respiratory tract infections, Recurrent ent...	ORPHA:331206
Immunodeficiency 36 With Lymphoproliferation	Recurrent lower respiratory tract infections, Persistent EBV viremia, Persistent CMV viremia, Rec...	OMIM:616005
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline phosphatas...	ORPHA:562639
Gallbladder Disease 1	Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated circulating hepatic t...	OMIM:600803
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Shortening of all distal phalanges of the fingers, Elevated circulating alkaline phosphatase conc...	OMIM:614207
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in...	OMIM:233710
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Decreased liver function, Elevated circulating hepatic transaminase concentration, Hypertyrosinem...	OMIM:124000
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in...	OMIM:233690
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Immunodeficiency 67	Septic arthritis, Recurrent staphylococcal infections, Meningitis, Recurrent streptococcal infect...	OMIM:607676
Granulomatous Disease, Chronic, X-Linked	Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in...	OMIM:306400
17Q11 Microdeletion Syndrome	Osteopenia, Delayed puberty, Elevated circulating parathyroid hormone level, Diaphyseal dysplasia...	ORPHA:97685
Postinfectious Vasculitis	Severe cytomegalovirus infection, Recurrent candida infections, Persistent human papillomavirus i...	ORPHA:48435
Omenn Syndrome	Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infections	OMIM:603554
Idiopathic Aplastic Anemia	Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	ORPHA:88
Complement Component 5 Deficiency	Recurrent meningococcal disease, Recurrent Neisserial infections	OMIM:609536
Immunodeficiency 47	Joint hypermobility, Recurrent infections, Recurrent bacterial infections	OMIM:300972
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infections, Recurren...	OMIM:620565
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Recurrent bacterial infections	OMIM:615895
Agammaglobulinemia 9, Autosomal Recessive	Recurrent bacterial infections	OMIM:619693
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Poikilocytosis, Bone marrow hypocellularity, Elliptocytosis, Anisocytosis, Thr...	OMIM:300835
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Sinus bradycardia, Urinary incontinence	OMIM:619482
Leukemia, Chronic Myeloid	Reduced leukocyte alkaline phosphatase, Ph-positive acute lymphoblastic leukemia, Chronic myeloge...	OMIM:608232
Gallbladder Neuroendocrine Tumor	Elevated alkaline phosphatase of hepatic origin, Intermittent jaundice, Chronic noninfectious lym...	ORPHA:100086
Sickle Cell Disease	Recurrent bacterial infections	OMIM:603903
Holt-Oram Syndrome	Limited elbow extension, Cervical C2/C3 vertebral fusion, Tricuspid regurgitation, Pulmonary arte...	OMIM:142900
Atrial Septal Defect, Coronary Sinus Type	Recurrent bacterial infections	ORPHA:99104
Atrial Septal Defect, Ostium Secundum Type	Recurrent bacterial infections	ORPHA:99103
Patent Urachus	Cystocele, Recurrent urinary tract infections, Recurrent gram-negative bacterial infections	ORPHA:431341

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.

Phenotype	Allele	Zygosity	Life Stage
Femur - MPATH pathological process term sclerosis	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult
Knee joint - MPATH pathological process term sclerosis	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult
Femur - MPATH pathological process term dysplasia	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult
Knee joint - MPATH pathological process term inflammation	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult
Femur - MPATH pathological process term hyperplasia	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult

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 Dmp1.

No publications found that use IMPC mice or data for Dmp1.

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MGI Allele	Allele Type	Produced
Dmp1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Dmp1^{tm1.1(KOMP)Vlcg}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice, Tissue
Dmp1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Dmp1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, 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: Dmp1 MGI:94910

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Adult LacZ

Histopathology

Human diseases caused by Dmp1 mutations

Histopathology

IMPC related publications

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