Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Foxn1 MGI:102949

Gene Summary

Name:

forkhead box N1

Synonyms:

Hfh11, whn, D11Bhm185e

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
athymia	Foxn1^{tm1.1(KOMP)Vlcg}	HOM	Early adult
abnormal skin morphology	Foxn1^{tm1.1(KOMP)Vlcg}	HOM	Early adult
hydrometra	Foxn1^{tm1.1(KOMP)Vlcg}	HET	Early adult
preweaning lethality, incomplete penetrance	Foxn1^{tm1.1(KOMP)Vlcg}	HOM	Early adult
small superior vagus ganglion	Foxn1^{tm1.1(KOMP)Vlcg}	HET	Early adult
abnormal thymus morphology	Foxn1^{tm1.1(KOMP)Vlcg}	HOM	Early adult

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

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
Epididymis	Section images	heterozygote	50% (1 of 2)
Esophagus	Section images	heterozygote	50% (1 of 2)
Penis	Section images	heterozygote	50% (1 of 2)
Prostate gland	Section images	heterozygote	50% (1 of 2)
Tongue	Section images	heterozygote	100% (2 of 2)
Vas deferens	Section images	heterozygote	50% (1 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Blood	N/A	heterozygote	0.0% (0 of 2)
Bone marrow	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	0.0% (0 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
Cecum	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	Not available
Chest bone	N/A	heterozygote	Not available
Colon	N/A	heterozygote	0.0% (0 of 2)
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
Gonadal fat pad	N/A	heterozygote	0.0% (0 of 2)
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
Ileum	N/A	heterozygote	0.0% (0 of 2)
Jejunum	N/A	heterozygote	0.0% (0 of 2)
Kidney	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	0.0% (0 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 adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Mesenteric lymph node	N/A	heterozygote	0.0% (0 of 2)
Midbrain	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	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)
Quadriceps	N/A	heterozygote	0.0% (0 of 2)
Sciatic nerve	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	Not available
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach pyloric region	N/A	heterozygote	Not available
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	Not available
Sublingual gland	N/A	heterozygote	0.0% (0 of 2)
Submandibular gland	N/A	heterozygote	0.0% (0 of 2)
Testis	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Trigeminal V nerve	N/A	heterozygote	0.0% (0 of 2)
Urinary bladder	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vagina	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	Not available
Vesicular gland	N/A	heterozygote	0.0% (0 of 2)
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.

Histopathology

Images

5 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

Adult LacZ

LacZ Images Section

11 Images

View images

Human diseases caused by Foxn1 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 Foxn1 (3 diseases)
Human diseases predicted to be associated with Foxn1 (2557 diseases)

The table below shows human diseases associated to Foxn1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Nail pits, Congenital alopecia totalis, Ridged nail, T lymphocytopenia	ORPHA:169095
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Nail pits, Nail dystrophy, Ridged nail, Alopecia	OMIM:601705
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Nail dystrophy	OMIM:618806

The table below shows human diseases predicted to be associated to Foxn1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Localized Dystrophic Epidermolysis Bullosa, Nails Only	Dystrophic fingernails, Nail dystrophy, Onychogryposis of toenails, Dystrophic toenail, Onychogry...	ORPHA:158676
Cystic Angiomatosis Of Bone, Diffuse	Cystic angiomatosis of bone	OMIM:123880
Epidermolysis Bullosa Simplex 2C, Localized	Dystrophic toenail, Onychomadesis	OMIM:619594
Pili Gemini	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Ab...	ORPHA:79492
Mammary-Digital-Nail Syndrome	Nail dysplasia, Nail dystrophy, Anonychia	OMIM:613689
Superior Transverse Scapular Ligament, Calcification Of, Familial	Ectopic ossification in ligament tissue	OMIM:601708
Ringed Hair	Abnormal hair morphology	OMIM:180600
Hairy Nose Tip	Abnormal hair morphology	OMIM:139630
Discoid Fibromas, Familial Multiple	Abnormal hair morphology	OMIM:190340
Nail Disorder, Nonsyndromic Congenital, 8	Dystrophic toenail	OMIM:607523
Delayed Puberty, Self-Limited	Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ...	OMIM:619613
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Nail pits, Congenital alopecia totalis, Ridged nail, T lymphocytopenia	ORPHA:169095
Exercise Intolerance, Riboflavin-Responsive	Ragged-red muscle fibers	OMIM:616839
Ectodermal Dysplasia 5, Hair/Nail Type	Absent toenail, Dystrophic fingernails, Sparse scalp hair	OMIM:614927
Epidermolysis Bullosa Simplex 3, Localized Or Generalized Intermediate, With Bp230 Deficiency	Nail dystrophy, Dystrophic toenail	OMIM:615425
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Epidermolysis Bullosa Pruriginosa	Nail dysplasia, Nail dystrophy	OMIM:604129
Nail Disorder, Nonsyndromic Congenital, 6	Nail dysplasia, Nail dystrophy, Anonychia	OMIM:107000
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Hypogonadotropic Hypogonadism 27 Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:619755
Pachyonychia Congenita 4	Nail dystrophy	OMIM:615728
Epidermolysis Bullosa Dystrophica, Autosomal Dominant	Nail dysplasia, Nail dystrophy	OMIM:131750
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Decreased circulating luteinizing hormone level, Cryptorchidism, Congenital adrenal hypoplasia	OMIM:202150
Ectodermal Dysplasia 6, Hair/Nail Type	Thin toenail, Dystrophic toenail, Sparse hair, Alopecia	OMIM:614928
Epidermolysis Bullosa Dystrophica Neurotrophica	Nail dysplasia, Nail dystrophy	OMIM:226500
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation	Nail dysplasia, Hypoplastic fifth toenail, Nail dystrophy, Onychogryposis	OMIM:131960
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Nail dystrophy, Onychogryposis of toenails, Abnormality of the nail, Abnormal hair morphology, Sp...	ORPHA:1808
Transient Bullous Dermolysis Of The Newborn	Nail dystrophy	OMIM:131705
Angioma Serpiginosum, X-Linked	Nail dystrophy, Fine hair, Sparse hair	OMIM:300652
Epidermolysis Bullosa Simplex 1B, Generalized Intermediate	Nail dystrophy	OMIM:131900
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Nail pits, Nail dystrophy, Ridged nail, Alopecia	OMIM:601705
Hypotrichosis 15	Sparse scalp hair	OMIM:620177
Spinal Muscular Atrophy, Scapuloperoneal	Peroneal muscle atrophy, Scapular muscle atrophy, Spinal muscular atrophy	OMIM:271220
Myopathy, Distal, With Rimmed Vacuoles	Internally nucleated skeletal muscle fibers, Rimmed vacuoles, Facial palsy, Scapular winging, EMG...	OMIM:617158
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Nail dystrophy, Alopecia	OMIM:616487
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Distal amyotrophy,...	OMIM:618655
Melorheostosis With Osteopoikilosis	Abnormal cortical bone morphology, Osteopoikilosis	ORPHA:1879
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:614842
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Epidermolysis Bullosa, Junctional 4, Intermediate	Dystrophic fingernails, Nail dystrophy, Scarring alopecia of scalp	OMIM:619787
Ichthyosis Hystrix Of Curth-Macklin	Hyperkeratosis, Nail dystrophy, Diffuse palmoplantar hyperkeratosis	ORPHA:79503
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:614839
Ribbing Disease	Diaphyseal sclerosis	OMIM:601477
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails	Nail dystrophy	OMIM:132000
Epidermolysis Bullosa Simplex 1A, Generalized Severe	Nail dystrophy, Palmoplantar hyperkeratosis	OMIM:131760
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Nail dysplasia, Nail dystrophy, Hypermelanotic macule, Hypomelanotic macule, Mixed hypo- and hype...	ORPHA:79397
Ciliary Discoordination Due To Random Ciliary Orientation	Recurrent infections	OMIM:215518
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Calf muscle hypertrophy, Muscle fiber necrosis, Increased variability in muscle fiber diameter, F...	OMIM:618848
Epidermolysis Bullosa, Junctional 5A, Intermediate	Alopecia of scalp, Nail dystrophy, Absent pubic hair, Onycholysis of distal fingernails, Absent a...	OMIM:619816
Epidermolysis Bullosa Dystrophica, Pretibial	Hyperkeratosis, Nail dystrophy	OMIM:131850
Familial Isolated Café-Au-Lait Macules	Freckling, Multiple cafe-au-lait spots	ORPHA:2678
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Decreas...	OMIM:262600
Hidrotic Ectodermal Dysplasia	Nail dystrophy, Small nail, Generalized hypotrichosis, Sparse hair, Sparse axillary hair, Fine ha...	ORPHA:189
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:616030
Alopecia Areata 2	Alopecia totalis, Alopecia universalis, Alopecia of scalp, Patchy alopecia	OMIM:610753
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Nail dystrophy, Hypermelanotic macule, Hyperkeratosis, Mixed hypo- and hyperpigmentation of the s...	ORPHA:79399
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Alopecia-Intellectual Disability Syndrome 1	Alopecia universalis, Alopecia	OMIM:203650
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Hypertrichosis Lanuginosa Congenita	Congenital, generalized hypertrichosis, Double eyebrow	OMIM:145700
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Polyglucosan Body Myopathy 2	Peroneal muscle weakness, Muscle fiber inclusion bodies, Muscle fiber polyglucosan inclusion bodi...	OMIM:616199
Autosomal Dominant Generalized Dystrophic Epidermolysis Bullosa	Recurrent loss of toenails and fingernails, Nail dystrophy, Dystrophic fingernails, Dystrophic to...	ORPHA:231568
Erythrokeratodermia Variabilis Et Progressiva 5	Hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis, Abnormal hair morphology	OMIM:617756
Reticular Dysgenesis	Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia	OMIM:267500
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia of scalp, Onychogryposis of toenails, Diffuse palmoplantar hyperkeratosis, Dystrophic to...	OMIM:617294
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Mottled pigmentation	OMIM:620199
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Alopecia of scalp, Hepatomegaly, Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopen...	OMIM:602450
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant	Type 2 muscle fiber predominance, Proximal lower limb amyotrophy, Spinal muscular atrophy, Proxim...	OMIM:158600
Palmoplantar Keratoderma And Congenital Alopecia 2	Nail dysplasia, Nail dystrophy, Hyperkeratosis, Palmoplantar hyperkeratosis, Alopecia totalis	OMIM:212360
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome	Decreased thyroid-stimulating hormone level, Decreased circulating follicle stimulating hormone c...	OMIM:620651
Hypotrichosis Simplex	Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alopecia	ORPHA:55654
Rothmund-Thomson Syndrome, Type 1	Nail dystrophy, Thin nail, Absent eyelashes, Hyperkeratosis, Absent eyebrow, Cafe-au-lait spot, S...	OMIM:618625
Hypotrichosis 1	Abnormality of the nail, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse pubic hair, S...	OMIM:605389
Hypertrichosis, Anterior Cervical	Anterior cervical hypertrichosis	OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type	Congenital, generalized hypertrichosis	OMIM:145701
Hypotrichosis 11	Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Sparse hair, Absent axillary hair,...	OMIM:615059
Immunodeficiency 24	Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti...	OMIM:615897
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Proximal upper limb amyotrophy, Muscular dystrophy, Proximal muscle weakness in upper limbs, Dist...	OMIM:601954
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Hyperpigmentation of the skin, Hyperkeratosis, Dystrophic toenail, Hypopigmentation ...	ORPHA:89838
Ringed Hair Disease	Fine hair, Abnormal hair pattern	ORPHA:169
Alopecia Universalis Congenita	Absent pubic hair, Absent eyelashes, Absent eyebrow, Absent axillary hair, Alopecia universalis	OMIM:203655
Monilethrix	Nail dysplasia, Perifollicular hyperkeratosis, Nail dystrophy, Brittle hair, Abnormality of hair ...	OMIM:158000
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology	ORPHA:3416
Hypotrichosis 4	Uncombable hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Alopecia	OMIM:146550
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Spinal Muscular Atrophy, Facioscapulohumeral Type	Spinal muscular atrophy, Skeletal muscle atrophy	OMIM:182970
Ossification Of The Posterior Longitudinal Ligament Of Spine	Increased bone mineral density, Ectopic ossification	OMIM:602475
Nail Disorder, Nonsyndromic Congenital, 3	Concave nail, Leukonychia, Abnormal hair morphology	OMIM:151600
Isolated Congenital Digital Clubbing	Nail dysplasia, Dystrophic fingernails, Broad nail, Hyperconvex nail, Onychogryposis	ORPHA:217059
Pili Bifurcati	Abnormality of hair texture, Abnormal hair morphology	ORPHA:720
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia	OMIM:242870
Intermediate Generalized Junctional Epidermolysis Bullosa	Nail dystrophy, Anemia, Scarring alopecia of scalp, Abnormality of skin pigmentation, Sparse body...	ORPHA:79402
Schopf-Schulz-Passarge Syndrome	Narrow nail, Nail dystrophy, Thin nail, Ridged nail, Small nail, Hyperkeratosis, Poroma, Apocrine...	OMIM:224750
Gne Myopathy	Hip flexor weakness, Muscle fiber inclusion bodies, Lower limb amyotrophy, Rimmed vacuoles, Abnor...	ORPHA:602
Buschke-Ollendorff Syndrome	Joint stiffness, Flexion contracture, Osteopoikilosis	OMIM:166700
Crandall Syndrome	Brittle hair, Sensorineural hearing impairment, Abnormal testis morphology, Sparse body hair, Hyp...	ORPHA:202
Myopathy, Distal, 5	Muscle fiber splitting, Distal lower limb muscle weakness, Distal amyotrophy, Rimmed vacuoles, We...	OMIM:617030
Hyperthyroxinemia, Familial Dysalbuminemic	Euthyroid hyperthyroxinemia, Abnormal thyroid-stimulating hormone level, Increased circulating fr...	OMIM:615999
Trichodysplasia-Xeroderma Syndrome	Trichorrhexis nodosa, Coarse hair, Brittle hair, Sparse scalp hair, Dry skin, Sparse body hair, S...	ORPHA:3361
Nonaka Myopathy	Distal lower limb muscle weakness, Deposits immunoreactive to beta-amyloid protein, Distal amyotr...	OMIM:605820
Dowling-Degos Disease 3	Reticulated skin pigmentation, Hyperpigmented/hypopigmented macules	OMIM:615674
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Myopathy, Sarcoplasmic Body	Sarcoplasmic bodies, Weakness of the intrinsic hand muscles, Increased variability in muscle fibe...	OMIM:620286
Amyotonia Congenita	Skeletal muscle atrophy	OMIM:205000
Idiopathic Trachyonychia	Nail dystrophy, Toenail dysplasia, Thin nail, Ridged nail, Abnormality of the periungual region, ...	ORPHA:79153
Hypotrichosis 10	Abnormality of the nail, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow	OMIM:614238
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Nail dystrophy, Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeyco...	OMIM:601952
Epidermolysis Bullosa, Junctional 1A, Intermediate	Nail dystrophy, Patchy alopecia, Fragile nails, Plantar hyperkeratosis	OMIM:226650
Acroleukopathy, Symmetric	Symmetric great toe depigmentation	OMIM:102000
Hyperpigmentation, Familial Progressive, 1	Hyperpigmentation of the skin	OMIM:614233
Nasal Hyperpigmentation, Familial Transverse	Hyperpigmentation of the skin	OMIM:161530
Hyperpigmentation Of Fuldauer And Kuijpers	Hyperpigmentation of the skin	OMIM:145200
Odontoonychodermal Dysplasia	Nail dysplasia, Dystrophic fingernails, Thin nail, Ridged nail, Palmoplantar hyperkeratosis, Dyst...	OMIM:257980
Tietz Syndrome	White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o...	ORPHA:42665
Tubular Aggregate Myopathy	Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Increased variability in muscle fi...	ORPHA:2593
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Decreased thyroid-stimulating hormone level, Anterior pituitary agenesis, Decreased circulating A...	OMIM:620303
Inclusion Body Myositis	Inflammatory myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Abnorm...	ORPHA:611
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Decreased circulating ACTH concentration, Decreased ...	OMIM:613986
Sabinas Brittle Hair Syndrome	Nail dysplasia, Nail dystrophy, Brittle hair, Sparse hair, Dry hair	OMIM:211390
Ectodermal Dysplasia 4, Hair/Nail Type	Nail dystrophy, Brittle hair, Abnormal sweat gland morphology, Absent eyelashes, Absent eyebrow, ...	OMIM:602032
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:614897
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Jaundice, Hepatomegaly, Abnormal immunoglobulin level, Decreased proportion of CD3-positive T cel...	ORPHA:276
Atopic Keratoconjunctivitis	Corneal neovascularization, Loss of eyelashes, Abnormal eyelid morphology, Corneal opacity, Corne...	ORPHA:163934
Spermatogenic Failure 15	Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating...	OMIM:616950
Cooks Syndrome	Dystrophic fingernails, Dystrophic toenail, Abnormal toenail morphology, Aplastic/hypoplastic toe...	ORPHA:1487
Ectodermal Dysplasia 9, Hair/Nail Type	Absent hair, Nail dystrophy, Abnormal sweat gland morphology, Abnormal sebaceous gland morphology...	OMIM:614931
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism	OMIM:183350
Spinal Muscular Atrophy, Type Iv	Calf muscle hypertrophy, Rimmed vacuoles, Spinal muscular atrophy, Muscle fiber necrosis, Increas...	OMIM:271150
Hereditary Myopathy With Early Respiratory Failure	Muscle fiber splitting, Internally nucleated skeletal muscle fibers, Necrotizing myopathy, Calf m...	ORPHA:178464
Insulin-Resistance Syndrome Type A	Generalized hyperpigmentation, Hyperkeratosis, Generalized hirsutism	ORPHA:2297
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Nail dystrophy, Yellow nails, Onycholysis, Orthokeratotic hyperkeratosis, Streaks of hyperkeratos...	OMIM:148700
Welander Distal Myopathy	Distal amyotrophy, Rimmed vacuoles	OMIM:604454
Candidiasis, Familial, 8	Chronic oral candidiasis, Cheilitis, Seborrheic dermatitis, Onychomycosis, Blepharitis	OMIM:615527
Psoriasis 15, Pustular, Susceptibility To	Nail dystrophy	OMIM:616106
Vernal Keratoconjunctivitis	Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punctate kerat...	ORPHA:70476
Anonychia With Flexural Pigmentation	Alopecia of scalp, Hypermelanotic macule, Abnormal hair morphology, Hyperkeratosis, Anonychia, Ax...	ORPHA:69125
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Alopecia Areata 1	Patchy alopecia, Nail pits, Trachyonychia, Alopecia totalis, Alopecia universalis	OMIM:104000
Congenital Smooth Muscle Hamartoma, With Or Without Hemihypertrophy	Hypertrichosis	OMIM:620470
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Proximal upper limb amyotrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Flexion limitatio...	OMIM:609115
Oculopharyngodistal Myopathy 2	Rimmed vacuoles, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, We...	OMIM:618940
Porokeratosis 3, Multiple Types	Nail dystrophy	OMIM:175900
Localized Epidermolysis Bullosa Simplex	Palmar hyperkeratosis, Nail dystrophy, Focal friction-related palmoplantar hyperkeratosis, Planta...	ORPHA:79400
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Rimmed vacuoles, Increased variability in muscle fiber diameter, C...	OMIM:615424
Epidermolysis Bullosa Acquisita	Nail dystrophy, Hyperpigmentation of the skin, Abnormal hair morphology	ORPHA:46487
Acrokeratosis Verruciformis Of Hopf	Leukonychia, Nail dystrophy, Hyperkeratosis, Anonychia, Punctate palmoplantar hyperkeratosis	ORPHA:79151
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Dermatopathia Pigmentosa Reticularis	Reticular hyperpigmentation, Alopecia of scalp, Nail dystrophy, Palmoplantar hyperkeratosis	OMIM:125595
Hypertrichosis, Congenital Generalized, 2	Congenital, generalized hypertrichosis, Hirsutism	OMIM:307150
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Foot dorsiflexor weakne...	OMIM:181400
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Nail dystrophy	OMIM:618806
Pili Torti	Brittle hair, Abnormality of the nail, Abnormality of hair texture, Hearing impairment, Abnormal ...	ORPHA:2889
Björnstad Syndrome	Alopecia, Sensorineural hearing impairment, Hypogonadism, Brittle hair	ORPHA:123
Dystrophic Epidermolysis Bullosa Pruriginosa	Hyperkeratosis, Nail dystrophy, Abnormal toenail morphology	ORPHA:89843
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Neutropenia, Decreased proportion of CD8-positive T cells, Lymphadenopathy, Increased circulating...	ORPHA:169154
Flotch Syndrome	Inflammatory abnormality of the eye, Abnormal eyelid morphology, Abnormal eyelash morphology, Spa...	ORPHA:2045
Basan Syndrome	Palmoplantar keratoderma, Nail dystrophy, Hypermelanotic macule	OMIM:129200
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Cutaneous photosensitivity, Sparse eyelashes, Sparse eyebrow, Sparse hair, Coarse hair	OMIM:234030
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia of scalp, Alopecia	OMIM:260910
Gnathodiaphyseal Dysplasia	Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones	ORPHA:53697
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Rimmed vacuoles, Skeletal muscle fibrosis, Myofibrillar myopathy, Increased variability in muscle...	ORPHA:34516
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Elevated circulating luteinizin...	OMIM:229070
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, Lymphopenia, Abnormally low T cell ...	OMIM:242700
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Decr...	OMIM:619924
Combined Cellular And Humoral Immune Defects With Granulomas	B lymphocytopenia, T lymphocytopenia	OMIM:233650
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, Decreased ...	OMIM:102700
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:614837
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha...	ORPHA:170
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Blephar...	ORPHA:171673
Odontomicronychial Dysplasia	Abnormality of the nail, Short nail, Slow-growing nails, Thin nail	ORPHA:1811
Endosteal Hyperostosis, Worth Type	Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial...	ORPHA:2790
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis	OMIM:615198
Bdv Syndrome	Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo...	OMIM:619326
Polyendocrine-Polyneuropathy Syndrome	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	ORPHA:453533
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Griscelli Syndrome, Type 1	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large...	OMIM:214450
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Rimmed vacuoles, Scapular winging, Increased variability...	OMIM:619733
Myopathy, Myofibrillar, 3	Muscle fiber splitting, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Myofibril...	OMIM:609200
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density	OMIM:241520
Tibial Muscular Dystrophy	Rimmed vacuoles, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Ce...	ORPHA:609
Keratoderma Hereditarium Mutilans With Ichthyosis	Nail dystrophy, Parakeratosis, Onychogryposis, Hyperkeratosis, Honeycomb palmoplantar hyperkerato...	ORPHA:79395
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Rimmed vacuoles, Scap...	OMIM:301075
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Muscular dystrophy, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter,...	OMIM:608807
Immunodeficiency 15A	Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr...	OMIM:618204
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant	Nail dystrophy, Small nail, Absent toenail, Absent fifth fingernail, Absent thumbnail	OMIM:124480
Hooft Disease	Leukonychia	OMIM:236300
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter	OMIM:302045
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Lower limb amyotrophy...	OMIM:620402
Clouston Syndrome	Nail dysplasia, Nail dystrophy, Brittle hair, Small nail, Absent pubic hair, Slow-growing hair, P...	OMIM:129500
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem...	OMIM:601859
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect	Hyperpigmentation of the skin	OMIM:202355
Immunodeficiency 52	Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Decreased ci...	OMIM:617514
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Hip flexor weakness, Facial hypotonia, Autophagic vacuoles, EMG: myopathic abnormalities, Increas...	ORPHA:266
Graham Little-Piccardi-Lassueur Syndrome	Sparse pubic hair, Sparse scalp hair, Sparse axillary hair, Alopecia	ORPHA:505
Woolly Hair, Autosomal Recessive 3	Trichorrhexis nodosa, Sparse scalp hair, Curly hair, Sparse eyelashes, Sparse hair, Fine hair	OMIM:616760
Spermatogenic Failure 2	Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating...	OMIM:108420
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Pachyonychia Congenita 1	Nail dystrophy, Palmoplantar hyperkeratosis, Follicular hyperkeratosis, Onychogryposis	OMIM:167200
Hypotrichosis 6	Erythema, Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti	OMIM:607903
Kallmann Syndrome With Spastic Paraplegia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:308750
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Muscle fiber splitting, Ankle flexion contracture, Calf muscle hypertrophy, Rimmed vacuoles, Incr...	OMIM:617760
Self-Improving Dystrophic Epidermolysis Bullosa	Nail dystrophy, Abnormality of the subungual region, Anonychia	ORPHA:79411
Ectodermal Dysplasia/Skin Fragility Syndrome	Alopecia of scalp, Nail dystrophy, Dystrophic fingernails, Absent eyelashes, Absent eyebrow, Spar...	OMIM:604536
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Ectropion, Corneal dystrophy, Folliculitis, Sparse eyelashes, Blepharitis, Sparse eyebrow, Kerati...	OMIM:308800
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve...	OMIM:606843
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Monilethrix	Brittle hair, Slow-growing hair, Abnormality of the nail, Abnormal eyelash morphology, Patchy alo...	ORPHA:573
Odontomicronychial Dysplasia	Short nail, Slow-growing nails, Thin nail	OMIM:601319
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Leukonychia, Nail dystrophy, Parakeratosis, Hyperkeratosis, Woolly hair, Fragile nails, Palmoplan...	OMIM:615821
Spinal Muscular Atrophy, Infantile, James Type	Distal amyotrophy, Increased variability in muscle fiber diameter, Hip contracture, Type 1 muscle...	OMIM:619042
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i...	OMIM:253601
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Decreased circulating ant...	OMIM:619846
Pili Torti-Onychodysplasia Syndrome	Nail dystrophy, Brittle hair, Absent eyelashes, Abnormal pinna morphology, Ectodermal dysplasia, ...	ORPHA:2890
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Alopecia totalis, Nail dystrophy, Palmoplantar keratoderma	ORPHA:1366
Dyschromatosis Universalis Hereditaria	Hypopigmented skin patches, Hypermelanotic macule, Multiple cafe-au-lait spots, Freckling, Spotty...	ORPHA:241
Albinism, Oculocutaneous, Type Iii	Albinism, Red hair, Partial albinism	OMIM:203290
Trichothiodystrophy 9, Nonphotosensitive	Nail dystrophy, Sparse eyebrow, Tiger tail banding, Sparse hair	OMIM:619692
Olmsted Syndrome 1	Nail dysplasia, Nail dystrophy, Parakeratosis, Periorificial hyperkeratosis, Hyperparakeratosis, ...	OMIM:614594
Trichothiodystrophy 7, Nonphotosensitive	Tiger tail banding, Cutaneous photosensitivity, Brittle hair	OMIM:618546
Uncombable Hair Syndrome 3	Curly hair, Uncombable hair, Pili canaliculi, Brittle hair	OMIM:617252
Late-Onset Junctional Epidermolysis Bullosa	Nail dystrophy, Anonychia	ORPHA:79406
Ectodermal Dysplasia 7, Hair/Nail Type	Hair-nail ectodermal dysplasia, Dystrophic fingernails, Brittle hair, Abnormal sweat gland morpho...	OMIM:614929
Osteoporosis	Osteoporosis	OMIM:166710
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Heimler Syndrome 2	Leukonychia, Beau's lines	OMIM:616617
Atrophoderma Vermiculata	Leukonychia	OMIM:209700
Myopathy, Distal, Tateyama Type	Calf muscle hypertrophy, Hand muscle weakness, Increased variability in muscle fiber diameter, Ce...	OMIM:614321
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma, Splenomegaly, ...	ORPHA:66661
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Myopathy	OMIM:618992
Bazex Syndrome	Nail dystrophy, Yellow nails, Parakeratosis, Lip hyperpigmentation, Anemia, Hyperkeratosis, Palmo...	ORPHA:166113
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Abnormal B cell count	OMIM:613495
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Muscular dystrophy, Central core regions in muscle fibers	OMIM:159050
Rhabdomyolysis, Susceptibility To, 1	Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance, Rhabdomyolysis,...	OMIM:620235
Hypotrichosis 7	Brittle hair, Abnormal sweat gland morphology, Abnormality of the nail, Sparse scalp hair, Woolly...	OMIM:604379
Immunodeficiency 104	Lymphadenopathy, Splenomegaly, T lymphocytopenia	OMIM:608971
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Muscular dystrophy, Calf muscle pseudohypertrophy, Facial palsy, EMG: myopathic abnormalities, In...	OMIM:254110
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Cortical thickening of long bone diaphyses	OMIM:166740
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Immunodeficiency 97 With Autoinflammation	Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased...	OMIM:619802
Immunodeficiency 30	Recurrent infections, Recurrent mycobacterial infections	OMIM:614891
Autosomal Dominant Keratitis	Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ...	ORPHA:2334
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Ankle flexion contracture, Calf muscle hypertrophy, Scapular winging, EMG: myopathic abnormalitie...	OMIM:608099
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Muscular dystrophy, Torticollis, Increased variability in muscle fiber diameter, Skeletal muscle ...	OMIM:613204
Bjornstad Syndrome	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr...	OMIM:262000
Osteopenia And Sparse Hair	Osteopenia, Joint hypermobility	OMIM:259690
Distal Myopathy, Welander Type	Distal upper limb amyotrophy, Rimmed vacuoles, EMG: myopathic abnormalities, Intrinsic hand muscl...	ORPHA:603
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Lower limb amyotrophy, Calf muscle hypertrophy, Wrist flexion contracture, Upper limb amyotrophy,...	ORPHA:206549
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell...	OMIM:312863
Anonychia-Onychodystrophy With Hypoplasia Or Absence Of Distal Phalanges	Nail dysplasia, Nail dystrophy, Anonychia	OMIM:106995
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Delayed puberty, Decreased circulating luteinizing hormone level, Testicular microlithiasis, Andr...	OMIM:228300
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs	ORPHA:1878
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral	Short nail	ORPHA:973
Pparg-Related Familial Partial Lipodystrophy	Cirrhosis, Hepatomegaly, Pancreatitis, Maternal diabetes, Coronary artery atherosclerosis, Second...	ORPHA:79083
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Muscle fiber splitting, Scapular winging, Increased variability in muscle fiber diameter, Central...	OMIM:618129
Ichthyosis, Congenital, Autosomal Recessive 1	Nail dysplasia, Nail dystrophy, Parakeratosis, Sparse hair, Palmoplantar hyperkeratosis, Alopecia	OMIM:242300
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m...	OMIM:202700
Uv-Sensitive Syndrome 2	Freckling	OMIM:614621
Diamond-Blackfan Anemia 17	Hyperpigmentation of the skin	OMIM:617409
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Folliculitis, Sparse eyelashes, Blepharitis, Sparse eyebrow, Keratitis, Conjunctivitis, Cataract	OMIM:612843
Kimura Disease	Abnormal salivary gland morphology, Lymphadenopathy, Increased circulating IgE level, Eosinophili...	ORPHA:482
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Peeling Skin Syndrome 4	Hyperkeratosis, Nail dystrophy, Palmoplantar keratoderma, Orthokeratosis	OMIM:607936
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Ankle flexion contracture, Central core regions in muscle fibers, Nemaline bodies, Increased vari...	OMIM:117000
Griscelli Syndrome Type 3	Partial albinism, Iris hypopigmentation, Hypopigmentation of hair	ORPHA:79478
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Nail dystrophy, Small nail, Abnormal fingernail morphology, Abnormal toenail morphology, Anonychi...	ORPHA:79410
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Nail dysplasia, Nail dystrophy, Anemia, Scarring alopecia of scalp, Palmoplantar hyperkeratosis	OMIM:226670
Tibial Muscular Dystrophy, Tardive	Muscular dystrophy, Tibialis anterior muscle atrophy, Rimmed vacuoles, EMG: myopathic abnormaliti...	OMIM:600334
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Wrist flexion contracture, Nemaline bodies, Limb-girdle muscle weakness, Increased variability in...	OMIM:620386
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Trichorrhexis nodosa, Nail dystrophy, Scarring alopecia of scalp, Sparse lateral eyebrow, Hypopla...	OMIM:617337
Myopathy, Scapulohumeroperoneal	Scapular winging, Facial palsy, Nemaline bodies, Increased variability in muscle fiber diameter, ...	OMIM:616852
Neuropathy, Hereditary Sensory, Type Id	Nail dystrophy	OMIM:613708
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Thoracic hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertri...	OMIM:117850
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus	ORPHA:3004
Trichodental Dysplasia	Slow-growing hair, Fine hair, Sparse hair, Brittle hair	OMIM:601453
Gelatinous Drop-Like Corneal Dystrophy	Corneal neovascularization, Central opacification of the cornea, Conjunctival amyloidosis, Subepi...	ORPHA:98957
Ectodermal Dysplasia 8, Hair/Tooth/Nail Type	Dystrophic fingernails, Sparse or absent eyelashes, Dystrophic toenail, Sparse scalp hair, Aplasi...	OMIM:602401
Poikiloderma With Neutropenia	Nail dystrophy, Recurrent otitis media, Skin rash, Elevated circulating creatine kinase concentra...	OMIM:604173
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Hepatomegaly, Decreased circulating total IgM, Abnormal natural kill...	ORPHA:331206
Angioma, Tufted	Abnormality of skin pigmentation	OMIM:607859
Ectodermal Dysplasia 13, Hair/Tooth Type	Brittle hair, Ectodermal dysplasia, Sparse eyelashes, Low anterior hairline, Thin eyebrow	OMIM:617392
Junctional Epidermolysis Bullosa Inversa	Nail dystrophy, Anonychia	ORPHA:79405
Inclusion Body Myositis	Rimmed vacuoles, Inflammatory myopathy	OMIM:147421
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Muscular dystrophy, Scapular winging, Increased variability in muscle fiber diameter, Centrally n...	OMIM:612999
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Lymphadenopathy, Iro...	OMIM:603909
Immunodeficiency 18	Defective T cell proliferation, Decreased proportion of CD3-positive T cells, Abnormal circulatin...	OMIM:615615
Isolated Anencephaly	Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
Palmoplantar Keratoderma And Congenital Alopecia 1	Nail dysplasia, Leukonychia, Brittle hair, Hyperpigmentation of the skin, Sparse eyebrow, Sparse ...	OMIM:104100
Pachyonychia Congenita	Palmar hyperkeratosis, Nail dystrophy, Palmoplantar keratoderma, Follicular hyperkeratosis, Onych...	ORPHA:2309
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:308700
Sclerosteosis	Increased bone mineral density, Abnormal cortical bone morphology, Craniofacial hyperostosis	ORPHA:3152
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Lymphoma, Impa...	OMIM:613179
Progeroid Syndrome, Petty Type	Low-set, posteriorly rotated ears, Brittle hair, Abnormal hair morphology, Abnormality of the nai...	ORPHA:2963
Parana Hard Skin Syndrome	Generalized hyperpigmentation, Hyperkeratosis, Generalized hirsutism	ORPHA:2812
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Optic nerve hypoplasia, Cutaneous photosensitivity, Panhypopitui...	OMIM:300953
Ectodermal Dysplasia/Short Stature Syndrome	Palmoplantar keratoderma, Nail dystrophy, Hyperkeratosis, Anonychia	OMIM:616029
Anterior Segment Dysgenesis 6	Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m...	OMIM:617315
Spermatogenic Failure 13	Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent...	OMIM:615841
Osteopetrosis, Autosomal Dominant 1	Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteoscleros...	OMIM:607634
Bart-Pumphrey Syndrome	Leukonychia	OMIM:149200
Huriez Syndrome	Nail dystrophy, Congenital palmoplantar hyperkeratosis, Small nail	OMIM:181600
Myofibrillar Myopathy 11	Type 1 muscle fiber predominance, Calf muscle hypertrophy, EMG: myopathic abnormalities, Increase...	OMIM:619178
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair	ORPHA:1410
Lichen Planus Pemphigoides	Blepharitis, Conjunctivitis	ORPHA:254478
Lelis Syndrome	Nail dystrophy, Yellow nails, Sparse lateral eyebrow, Abnormal toenail morphology, Perioral hyper...	ORPHA:140936
Myopathy, Myofibrillar, 5	Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy	OMIM:609524
Lymphoproliferative Syndrome 3	Lymphadenopathy, Decreased circulating antibody level, Partial absence of specific antibody respo...	OMIM:618261
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly, Myelodysplasia	OMIM:162830
Palmoplantar Keratoderma And Woolly Hair	Leukonychia, Sparse scalp hair, Woolly hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, ...	OMIM:616099
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Pancreatitis, Coronary artery atherosclerosis, Abnormality of the nail, Secondary a...	ORPHA:2348
Erythrokeratodermia Variabilis Et Progressiva 7	Dystrophic toenail, Woolly hair	OMIM:619209
Lymphoproliferative Syndrome 2	EBV encephalitis, Sepsis, Hepatomegaly, Persistent EBV viremia, Recurrent infections, Decreased c...	OMIM:615122
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl...	OMIM:618987
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Patchy alopecia, Failure to thrive, S...	OMIM:615387
Congenital Disorder Of Glycosylation, Type I/Iix	Abnormality of skin pigmentation	OMIM:212067
Pachyonychia Congenita 2	Nail dysplasia, Nail dystrophy, Palmoplantar hyperkeratosis, Sparse scalp hair, Sparse eyebrow, S...	OMIM:167210
Trichothiodystrophy 6, Nonphotosensitive	Brittle hair, Slow-growing hair, Cutaneous photosensitivity, Bilateral sensorineural hearing impa...	OMIM:616943
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Angulated muscle fibers, Scapular winging, Shoulder girdle muscle weakness, Weakness of facial mu...	OMIM:619477
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Muscular dystrophy, Increased variability in muscle fiber diameter, Proximal amyotrophy, Skeletal...	OMIM:614302
Caspase 8 Deficiency	Reduced CD95-induced lymphocyte apoptosis, Decreased CD4:CD8 ratio, Lymphadenopathy, Complete or ...	OMIM:607271
Osteochondrosis Of The Metatarsal Bone	Joint stiffness, Arthritis, Sclerosis of foot bone, Thickened cortex of bones	ORPHA:564003
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia	ORPHA:169079
Non-Acquired Isolated Growth Hormone Deficiency	Delayed puberty, Premature skin wrinkling, Anterior hypopituitarism, Prolonged neonatal jaundice,...	ORPHA:631
Myopathy, Autophagic Vacuolar, Infantile-Onset	Autophagic vacuoles, Myopathy	OMIM:609500
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Abnormal circulating IgG level, Failure to thrive, Neutrophi...	OMIM:226990
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Sensorineural hearing impairment, Hidrotic ectodermal dysplasia, Sparse hair, Coars...	ORPHA:1883
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Immunodeficiency 50	Decreased circulating antibody level, Neutropenia, Lymphopenia	OMIM:300988
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Failure to thrive secondary to recurrent infections, Increased circulating antibody level, Decrea...	ORPHA:169160
Waardenburg Syndrome, Type 2F	Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, White hair, Heter...	OMIM:619947
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Leukocytosis,...	ORPHA:39041
Uncombable Hair Syndrome 2	Uncombable hair, Pili canaliculi	OMIM:617251
Marie Unna Hereditary Hypotrichosis	Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Al...	ORPHA:444
Bathing Suit Ichthyosis	Nail dystrophy, Parakeratosis, Sparse hair, Palmoplantar hyperkeratosis, Alopecia	ORPHA:100976
Immunodeficiency 112	Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell...	OMIM:620449
Acute Myelomonocytic Leukemia	Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Eosinophilia	ORPHA:517
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder, Malignant eosinophil proliferation	OMIM:131440
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Alpha-B Crystallin-Related Late-Onset Myopathy	Accumulation of muscle fiber desmin, Muscle fiber inclusion bodies, Facial diplegia, Autophagic v...	ORPHA:399058
Mantle Cell Lymphoma	B-cell lymphoma, Splenomegaly, Lymphadenopathy, Weight loss	ORPHA:52416
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Muscular dystrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, W...	OMIM:619566
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl...	ORPHA:488650
Myopathy, Tubular Aggregate, 1	Weakness of the intrinsic hand muscles, Increased variability in muscle fiber diameter, Joint con...	OMIM:160565
Ifap Syndrome 2	Angular cheilitis, Posterior blepharitis, Keratitis, Cataract, Keratoconjunctivitis sicca	OMIM:619016
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism	Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ...	OMIM:619761
Olmsted Syndrome, X-Linked	Posterior blepharitis, Blepharitis	OMIM:300918
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina...	OMIM:618534
Spermatogenic Failure 14	Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent...	OMIM:615842
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Abnormal B cell morphology	OMIM:616911
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Weakness of facial mu...	ORPHA:457050
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Alopecia, Decreased FOXP3-expressing T cell count, Increased circulating...	OMIM:304790
Congenital Myopathy 18	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Centrally n...	OMIM:620246
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Thyroiditis, Decreased proportion of naive T cells, T lymphocytopenia, Hypothyro...	ORPHA:83471
Trichothiodystrophy 4, Nonphotosensitive	Nail dysplasia, Trichorrhexis nodosa, Nail dystrophy, Optic atrophy, Brittle hair, Small nail, Ab...	OMIM:234050
Ghosal Hematodiaphyseal Dysplasia	Abnormal cortical bone morphology, Craniofacial hyperostosis	ORPHA:1802
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Cardiomyopathy, Dilated, 1X	Increased variability in muscle fiber diameter, Calf muscle hypertrophy	OMIM:611615
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis	ORPHA:178377
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle hypertrophy, Rimmed vacuoles, Scapular winging, EMG: myopathic abnormalities, Ham...	OMIM:300696
Chondroectodermal Dysplasia With Night Blindness	Nail dystrophy, Hyperconvex toenail, Abnormal hair morphology, Hyperconvex fingernails, Congenita...	ORPHA:319195
Isolated Osteopoikilosis	Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic foci within carpal bones, Tar...	ORPHA:166119
Caffey Disease	Subperiosteal bone formation, Calvarial hyperostosis, Cortical irregularity, Periosteal thickenin...	OMIM:114000
Hypotrichosis With Juvenile Macular Degeneration	Fine hair, Sparse scalp hair, Pili torti, Brittle hair	ORPHA:1573
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Mediastinal lymphadenopathy, Decreased CD4...	OMIM:300853
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
46,Xy Sex Reversal 5	Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating...	OMIM:613080
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal lymph node mo...	ORPHA:911
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Muscle fiber necrosis,...	OMIM:253700
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Blepharitis, Psoriasiform dermatitis, Developmental cataract	OMIM:616834
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615269
Sézary Syndrome	Irregular hyperpigmentation, Nail dystrophy, Lymphadenopathy, Abnormal lymphocyte morphology, Spl...	ORPHA:3162
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Muscle fiber splitting, Facial palsy, Limb muscle weakness, Increased variability in muscle fiber...	OMIM:616313
Localized Junctional Epidermolysis Bullosa	Dystrophic fingernails, Nail dystrophy, Scarring alopecia of scalp, Dystrophic toenail, Sparse pu...	ORPHA:251393
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia of scalp, Nail dystrophy, Hypermelanotic macule, Hypomelanotic macule, Multinodular goit...	OMIM:618373
Severe Combined Immunodeficiency, X-Linked	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating I...	OMIM:300400
Alpha-Heavy Chain Disease	Dysgammaglobulinemia, Hepatomegaly, Hypocalcemia, Lymphoma, Ascites, Splenomegaly, Alopecia	ORPHA:100025
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Muscle fiber splitting, Lower limb amyotrophy, Ragged-red muscle fibers, Rimmed vacuoles, Upper l...	OMIM:616924
Cronkhite-Canada Syndrome	Hypoplastic toenails, Dystrophic fingernails, Hepatomegaly, Intestinal polyposis, Anemia, Stomach...	ORPHA:2930
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome	Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey...	ORPHA:2891
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Nail dystrophy, Woolly hair, Sparse eyelashes, Sparse eyebrow, Palmoplantar hyperkeratosis, Palmo...	OMIM:605676
Immunodeficiency 13	B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho...	OMIM:615518
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ...	OMIM:300717
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to tetanus vaccine, Complete or n...	OMIM:615401
Spermatogenic Failure 77	Abnormal circulating luteinizing hormone concentration, Cryptorchidism, Abnormal circulating test...	OMIM:620103
Xeroderma Pigmentosum, Complementation Group D	Ectropion, Corneal neovascularization, Entropion, Keratitis, Conjunctivitis, Cataract, Keratoconj...	OMIM:278730
Flynn-Aird Syndrome	Joint stiffness, Increased bone mineral density, Osteoporosis, Increased bone density with cystic...	OMIM:136300
Agammaglobulinemia, X-Linked	Anemia, Decreased circulating IgE, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepat...	OMIM:300755
Ichthyosis, Congenital, Autosomal Recessive 11	Curly eyelashes, Brittle hair, Abnormality of the nail, Curly hair, Sparse eyelashes, Sparse body...	OMIM:602400
Split-Hand/Foot Malformation 3	Nail dysplasia, Nail dystrophy, Ridged nail	OMIM:246560
Autoimmune Lymphoproliferative Syndrome	Increased circulating antibody level, Lymphocytosis, Neoplasm of the tongue, Neoplasm of the skin...	ORPHA:3261
Myasthenic Syndrome, Congenital, 14	Knee flexion contracture, Ragged-red muscle fibers, Scapular winging, Muscle fiber tubular inclus...	OMIM:616228
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Abnormal Z disk morphology, Increased variability in...	OMIM:618654
Peeling Skin Syndrome 1	Scaling skin, Nail dystrophy, Brittle hair, Onycholysis, Eosinophilia	OMIM:270300
Naegeli-Franceschetti-Jadassohn Syndrome	Nail dystrophy, Decreased number of sweat glands, Palmoplantar hyperkeratosis, Dystrophic toenail...	ORPHA:69087
Wiskott-Aldrich Syndrome 2	Thrombocytopenia, Decreased proportion of CD8-positive T cells	OMIM:614493
Melorheostosis	Increased bone mineral density, Arthritis, Hyperostosis, Joint stiffness, Ectopic ossification in...	ORPHA:2485
Miyoshi Muscular Dystrophy 1	Muscular dystrophy, Distal amyotrophy, Deposits immunoreactive to beta-amyloid protein, Lower lim...	OMIM:254130
Heimler Syndrome 1	Leukonychia, Beau's lines	OMIM:234580
Desmoplastic Small Round Cell Tumor	Neoplasm of the central nervous system, Neoplasm of the pancreas, Ovarian neoplasm, Lymphadenopat...	ORPHA:83469
Transgrediens Et Progrediens Palmoplantar Keratoderma	Dystrophic fingernails, Diffuse palmoplantar hyperkeratosis, Dystrophic toenail, Nonepidermolytic...	ORPHA:495
Immunodeficiency 48	Absence of CD8-positive T cells, Impaired lymphocyte transformation with phytohemagglutinin, Sple...	OMIM:269840
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Muscle fiber splitting, Calf muscle hypertrophy, Rimmed vacuoles, Scapular winging, Myofibrillar ...	OMIM:603689
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail, Hyperpigmentation of the skin	OMIM:302000
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hypopigmented skin patches, Multiple lentigines, Hypermelanotic macule, Cafe-au-lait spot, Progre...	OMIM:145250
Oculopharyngeal Muscular Dystrophy	Ragged-red muscle fibers, Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy	ORPHA:270
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Palmoplantar keratoderma, Leukonychia, Hyperkeratotic papule, Palmoplantar hyperkeratosis	ORPHA:2698
Hypertrichosis Lanuginosa Congenita	Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow	ORPHA:2222
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Immunodeficiency 116	Absence of CD8-positive T cells	OMIM:608957
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Infertility, Abnormal lymph node morphology	OMIM:136580
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus	OMIM:616622
Pili Torti, Early-Onset	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr...	OMIM:261900
Acrokeratoderma, Hereditary Papulotranslucent	Fine hair	OMIM:101840
Immunodeficiency 25	Autoimmune hemolytic anemia, Increased circulating IgG level, Complete or near-complete absence o...	OMIM:610163
Endosteal Hyperostosis, Autosomal Dominant	Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Metatarsal diaphys...	OMIM:144750
Bethlem Myopathy 2	Increased variability in muscle fiber diameter, Scapular winging, Flexion contracture, Myopathy	OMIM:616471
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed vacuoles, ...	OMIM:612937
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	OMIM:131400
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:606952
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Partial absence of specific antibody response to unconjugated pneu...	OMIM:240500
Palmoplantar Carcinoma, Multiple Self-Healing	Palmoplantar keratoderma, Nail dystrophy, Parakeratosis, Follicular hyperkeratosis	OMIM:615225
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Nail dystrophy	OMIM:609057
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Muscular dystrophy, Rimmed vacuoles, Scapular winging, Autophagic vacuoles, EMG: myopathic abnorm...	OMIM:608423
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Muscular dystrophy, Ankle flexion contracture, Increased variability in muscle fiber diameter, Ce...	OMIM:617072
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, A...	ORPHA:277
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec...	OMIM:619824
Primary Myelofibrosis	Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytosis, Pancytopenia, Cachexia, Leukocytosis, Port...	ORPHA:824
Spermatogenic Failure, X-Linked, 5	Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit...	OMIM:301099
Generalized Eruptive Histiocytosis	Hypereosinophilia, Histiocytosis, Leukemia	ORPHA:157991
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Muscle fiber splitting, Muscular dystrophy, Rimmed vacuoles, Scapular winging, Centrally nucleate...	OMIM:601846
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Spermatogenic Failure 72	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre...	OMIM:619867
Spermatogenic Failure 34	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:618153
Epidermolysis Bullosa, Junctional 1B, Severe	Nail dysplasia, Nail dystrophy	OMIM:226700
Spermatogenic Failure 84	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:620409
Spermatogenic Failure 65	Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red...	OMIM:619712
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Failure to th...	OMIM:603554
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Muscular dystrophy, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Increased variability i...	OMIM:613157
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:617241
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Decreased circulating I...	OMIM:611926
Ras-Associated Autoimmune Leukoproliferative Disorder	Follicular hyperplasia, Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphoc...	OMIM:614470
Amyotrophic Lateral Sclerosis 20	Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies	OMIM:615426
Pseudoprogeria Syndrome	Absent eyelashes, Decreased body weight, Absent eyebrow, Growth delay, Thin skin, Sparse eyebrow,...	ORPHA:2985
Roifman Syndrome	Lymphadenopathy, Decreased circulating antibody level, Hepatosplenomegaly, Hyperconvex nail, Eosi...	ORPHA:353298
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ...	OMIM:300718
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Reduced bone mineral density, Abnormal cortical bone morphology, Osteolysis	ORPHA:970
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level, Lymphopenia	OMIM:247800
Hereditary Bullous Dystrophy, Macular Type	Nail dystrophy, Hyperpigmentation of the skin, Alopecia, Atrichia, Decreased testicular size, Con...	ORPHA:1867
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion o...	OMIM:615559
Acrofacial Dysostosis, Weyers Type	Nail dystrophy, Toenail dysplasia, Small nail, Abnormal fingernail morphology, Abnormal toenail m...	ORPHA:952
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Distal upper limb amy...	OMIM:620068
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ...	OMIM:619313
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Abnormality of skin pigmentation	OMIM:300719
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Splenomegaly	OMIM:606445
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Dystrophic fingernails, Dystrophic toenail, Sparse scalp hair, Sparse eyebrow, Melanocytic nevus,...	ORPHA:1882
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Pan...	OMIM:618986
Kid Syndrome	Corneal neovascularization, Corneal erosion, Aplastic/hypoplastic lacrimal glands, Limbal stem ce...	ORPHA:477
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normochromic anemia, Splenomegaly, Abnormal mast cell morphology, Normocytic anemia, Acute myeloi...	ORPHA:98849
Monosomy 22	Hypochromic microcytic anemia, Aplasia of the thymus, Synophrys, Sarcoma, Meningioma, Hepatosplen...	ORPHA:96123
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Decreased response to growth hormone stimulation test, Abnormal B cell morphology, Patent ductus ...	OMIM:618223
Psoriasis 14, Pustular	Nail dystrophy, Neutrophilia, Leukocytosis, Parakeratosis	OMIM:614204
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia	ORPHA:2582
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Distal amyotrophy, Rimmed vacuoles, Limb muscle weak...	OMIM:619473
Menkes Disease	Brittle hair, Hypsarrhythmia, Cutis laxa, Sparse hair, Alopecia	OMIM:309400
Trichothiodystrophy 1, Photosensitive	Trichorrhexis nodosa, Nail dystrophy, Brittle hair, Small nail, Cutaneous photosensitivity, Tiger...	OMIM:601675
Autoinflammation With Arthritis And Dyskeratosis	Corneal neovascularization, Thyroiditis, Punctate keratitis, Keratoconjunctivitis sicca, Uveitis	OMIM:617388
Familial Expansile Osteolysis	Pathologic fracture, Thin bony cortex, Osteolysis	OMIM:174810
Amyotrophic Lateral Sclerosis 28	Rimmed vacuoles, Upper limb muscle weakness, Fiber type grouping, Skeletal muscle atrophy, Lower ...	OMIM:620452
Cono-Spondylar Dysplasia	Short nail	ORPHA:420794
Mueller-Weiss Syndrome	Knee osteoarthritis, Arthritis, Limitation of movement at ankles, Joint stiffness, Sclerosis of f...	ORPHA:566943
Juvenile Xanthogranuloma	Iritis, Hyphema, Blepharitis, Asymmetry of iris pigmentation, Uveitis	ORPHA:158000
Odontotrichoungual-Digital-Palmar Syndrome	Nail dysplasia, Nail dystrophy, Hypopigmentation of the skin, Abnormality of hair texture	OMIM:601957
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Delayed puberty, Neutropenia in presence of anti-neutropil antibodie...	OMIM:615952
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Nail dystrophy, Abnormality of the anterior pituitary, Brittle hair, Abnormal pinna morphology, P...	ORPHA:75389
Reticuloendotheliosis, X-Linked	Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Spermatogenic Failure 46	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:619095
Spermatogenic Failure 33	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:618152
Spermatogenic Failure 37	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:618429
Spermatogenic Failure 18	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:617576
Spermatogenic Failure 27	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:617965
Cranioectodermal Dysplasia 3	Short nail, Fine hair, Broad nail, Sparse hair	OMIM:614099
Spermatogenic Failure 56	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:619515
Caffey Disease	Periosteal thickening of long tubular bones, Calvarial hyperostosis, Cortical irregularity, Corti...	ORPHA:1310
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse eyelashes, Blepharitis, Eczematoid dermatitis	OMIM:618535
Ermine Phenotype	White hair, Vitiligo, White eyelashes, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig...	OMIM:227010
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level, Blepharitis, Pustule, Erythroderma, Paronychia, Onychogryposis	OMIM:614328
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Muscular Dystrophy, Limb-Girdle, Type 1H	Muscular dystrophy, Calf muscle hypertrophy, Centrally nucleated skeletal muscle fibers, Shoulder...	OMIM:613530
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Calf muscle...	OMIM:618138
Rhabdoid Tumor	Neoplasm of the central nervous system, Renal neoplasm, Anemia, Lymphadenopathy, Sarcoma, Thrombo...	ORPHA:69077
Dyskeratosis Congenita, Autosomal Dominant 2	Nail dysplasia, Premature graying of hair, Nail dystrophy, Aplastic anemia, Pancytopenia, White f...	OMIM:613989
Adult-Onset Nemaline Myopathy	Type 1 muscle fiber predominance, Upper limb muscle weakness, Nemaline bodies, EMG: myopathic abn...	ORPHA:171442
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine,...	OMIM:620282
Trichohepatoenteric Syndrome 2	Trichorrhexis nodosa, Brittle hair, Uncombable hair, Woolly hair, Sparse hair	OMIM:614602
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Congenital Myopathy 6 With Ophthalmoplegia	Muscle fiber inclusion bodies, Scapular winging, Congenital contracture, Increased variability in...	OMIM:605637
Naxos Disease	Nail dystrophy, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Woolly hair, Curly hair, Ony...	OMIM:601214
Immunodeficiency 11A	Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr...	OMIM:615206
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Absent hair, Brittle hair, Dry skin, Absent nipple, Sparse hair, Hypohidrotic ectodermal dysplasia	OMIM:614940
Immunodeficiency 68	Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Abscess	OMIM:612260
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Nail dystrophy, Yellow nails, Ridged nail, Sparse lateral eyebrow, Onycholysis, Alopecia	OMIM:614564
Congenital Disorder Of Glycosylation, Type Iir	Recurrent infections, Decreased circulating antibody level, Ascites, Hepatomegaly	OMIM:301045
Osteopetrosis, Autosomal Dominant 2	Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Generalized ...	OMIM:166600
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Increased circulating IgG...	OMIM:619220
Immunodeficiency 84	Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7	Hypoglycosylation of alpha-dystroglycan, Calf muscle hypertrophy, Scapular winging, Lower limb mu...	OMIM:616052
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Pgm3-Cdg	Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie...	ORPHA:443811
Ichthyosis, Congenital, Autosomal Recessive 4A	Palmoplantar keratoderma, Leukonychia, Hepatosplenomegaly	OMIM:601277
Cinca Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia	OMIM:607115
Oculopharyngodistal Myopathy 4	Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnormalities, Increased variability in musc...	OMIM:619790
Immunodeficiency 53	Failure to thrive, Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:617585
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Premature graying of hair, Nail dystrophy, Pancytopenia, Reticular hyperpigmentation, Bone marrow...	OMIM:619767
Dyskeratosis Congenita, Autosomal Recessive 1	Aplastic anemia, Nail dystrophy, Small nail, Palmoplantar hyperkeratosis, Hyperpigmentation of th...	OMIM:224230
Dermotrichic Syndrome	Nail dystrophy, Anemia, Hyperconvex toenail	ORPHA:99688
Larsen Syndrome	Short nail, Cryptorchidism	ORPHA:503
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis	ORPHA:139436
Spermatogenic Failure 43	Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm...	OMIM:618751
Spermatogenic Failure 49	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619094
Spermatogenic Failure 19	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:617592
Spermatogenic Failure 82	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility...	OMIM:620353
Spermatogenic Failure 51	Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz...	OMIM:619177
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Muscular dystrophy, Calf muscle hypertrophy, Triceps weakness, Limb-girdle muscle weakness, Centr...	ORPHA:86812
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Premature graying of hair, Hepatomegaly, Pancreatitis, Coronary artery atherosclerosis, Abnormali...	ORPHA:280365
Transcobalamin Deficiency	Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop...	ORPHA:859
Spermatogenic Failure, X-Linked, 3	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla...	OMIM:301059
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis	ORPHA:26137
Infantile Sialic Acid Storage Disease	Hydrops fetalis, Hepatomegaly, Ascites, Ptosis, Splenomegaly, Conjugated hyperbilirubinemia, Epic...	OMIM:269920
Papillon-Lefèvre Syndrome	Hypopigmented skin patches, Nail dystrophy, Abnormality of the nail, Abnormal fingernail morpholo...	ORPHA:678
Immunodeficiency 88	Eosinophilia	OMIM:619630
Pachyonychia Congenita 3	Nail dystrophy, Palmoplantar keratoderma, Onychogryposis of toenails, Palmar hyperkeratosis, Plan...	OMIM:615726
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia, Increased circulating IgE level, Decreased circulating total IgM	OMIM:617638
Trichothiodystrophy 3, Photosensitive	Trichorrhexis nodosa, Brittle hair, Cutaneous photosensitivity, Low-set ears, Tiger tail banding,...	OMIM:616395
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Nail dystrophy, Dystrophic fingernails, Palmoplantar hyperkeratosis, Highly arched eyebrow, Dystr...	ORPHA:3253
Hypotrichosis 12	Sparse or absent eyelashes, Abnormal sweat gland morphology, Abnormality of the nail, Slow-growin...	OMIM:615885
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ...	OMIM:620542
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre...	OMIM:614841
Spermatogenic Failure, X-Linked, 6	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ...	OMIM:301101
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody response to Haemophilus...	OMIM:620632
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Absent hair, Nail dystrophy, Trichorrhexis nodosa, Ridged nail, Meningocele, Abnormality of the n...	ORPHA:1010
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Splenomegaly, Weight...	ORPHA:100024
Netherton Syndrome	Brittle hair, Sparse scalp hair, Angioedema, Urticaria, Brittle scalp hair, Sparse eyebrow, Hyper...	OMIM:256500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	B lymphocytopenia, T lymphocytopenia	OMIM:601457
Immunodeficiency, Common Variable, 1	Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutro...	OMIM:607594
Spermatogenic Failure 54	Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol...	OMIM:619379
Ichthyosis With Erythrokeratoderma	Leukonychia, Parakeratosis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail pits, Palmo...	OMIM:620507
Hidrotic Ectodermal Dysplasia, Halal Type	Nail dysplasia, Absent eyelashes, Sparse scalp hair, Multiple cafe-au-lait spots, Absent eyebrow,...	ORPHA:1809
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair	ORPHA:50812
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair	ORPHA:90023
Cutis Laxa, Autosomal Recessive, Type Iia	Excessive wrinkled skin, Brittle hair, Abnormality of hair texture, Redundant skin, Low-set ears,...	OMIM:219200
Immunodeficiency 102	Hepatomegaly, Anemia, Increased circulating interleukin 6 concentration, Decreased circulating to...	OMIM:301082
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Recurrent infections, Vasculitis, Skin rash, Blepharitis, Inflammation of the large intestine, Re...	OMIM:617718
Gnathodiaphyseal Dysplasia	Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures	OMIM:166260
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Woolly hair, Sparse hair	OMIM:278200
Hypotrichosis And Recurrent Skin Vesicles	Leukonychia, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse axilla...	OMIM:613102
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Nail dystrophy, Small nail, Decreased testicular size, Orthokeratotic hyperkeratosis, Palmoplanta...	OMIM:610644
Myopathy, Centronuclear, 1	Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle...	OMIM:160150
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility	ORPHA:488191
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Nail dysplasia, Trichiasis, Nail dystrophy, Absent pubic hair, Hyperkeratosis, Sparse eyelashes, ...	OMIM:148210
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle	OMIM:619011
Ullrich Congenital Muscular Dystrophy 2	Muscular dystrophy, Increased variability in muscle fiber diameter, Facial palsy, Flexion contrac...	OMIM:616470
Vohwinkel Syndrome, Variant Form	Parakeratosis, Abnormal hair morphology, Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, O...	OMIM:604117
Intermediate Osteopetrosis	Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Generalized osteosc...	ORPHA:210110
Congenital Myopathy 14	Knee flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diamet...	OMIM:618414
Oculocerebral Syndrome With Hypopigmentation	Hypopigmentation of the skin, Silver-gray hair	OMIM:257800
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Hearing impairment, Fine hair, Fragile nails	ORPHA:500166
Spermatogenic Failure 42	Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe...	OMIM:618745
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Pathologic fracture, Limitation of joint mobility, Abnormal cortical bone morphology	ORPHA:166277
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Increased intramuscul...	ORPHA:276435
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Ragged-red muscle fibers, Scapular winging, Skeletal muscle atrophy, Weakness of facial musculature	OMIM:617069
Premature Ovarian Failure 2B	Delayed puberty, Premature ovarian insufficiency, Female infertility, Primary amenorrhea	OMIM:300604
Uncombable Hair Syndrome 1	Uncombable hair, Pili canaliculi, Dry hair	OMIM:191480
Moynahan Syndrome	Hyperkeratosis, Sparse hair, Alopecia	ORPHA:2574
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Nail dystrophy, Hirsutism, Low posterior hairline, Synophrys, Abnormal hair whorl, Spotty hypopig...	OMIM:300860
Premature Ovarian Failure 17	Decreased circulating inhibin B concentration, Decreased cirrculating antimullerian hormone circu...	OMIM:619146
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy, Impaired Ig class switch recombination, Complete or near-complete absence of spe...	OMIM:605258
Dyskeratosis Congenita, Autosomal Recessive 6	Nail dystrophy, Abnormality of skin pigmentation, Bone marrow hypocellularity, Sparse hair, Alopecia	OMIM:616353
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Osteopetrosis, Cortical sclerosis, Pathologic fracture	OMIM:620366
Spermatogenic Failure 58	Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo...	OMIM:619585
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Muscle fiber necrosis, Increased variability in muscle fiber diameter, Centrally nucleated skelet...	OMIM:620138
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper...	OMIM:620354
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Recurrent loss of toenails and fingernails, Dystrophic toenail, Dystrophic fingernails, Palmoplan...	ORPHA:158673
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Nail dystrophy, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin l...	ORPHA:98813
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Eosinophilia, Increased circulating IgE level, B-cell lymphoma	OMIM:620532
Spermatogenic Failure 39	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili...	OMIM:618643
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities	OMIM:609283
Spermatogenic Failure 80	Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse...	OMIM:620222
Focal Segmental Glomerulosclerosis 1	Pleural effusion, Hyperlipidemia, Ascites, Edema, Hypoalbuminemia	OMIM:603278
Spermatogenic Failure 76	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap...	OMIM:620084
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Generalized limb muscle atrophy, Pelvic girdle muscle weakness, Calf muscle pseudohypertrophy, Sc...	OMIM:608358
Ollier Disease	Anemia, Hemangioma, Chondrosarcoma, Sarcoma, Lymphangioma, Precocious puberty, Neoplasm, Multiple...	ORPHA:296
Erythrokeratodermia Variabilis Et Progressiva 3	Hyperkeratosis, Leukonychia, Palmoplantar keratoderma, Orthokeratosis	OMIM:617525
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Generalized bone demineralization, Rickets of the lower limbs, Delayed epiphyseal ossifi...	OMIM:600785
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Nemaline ...	OMIM:620265
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Myoclonic-Astatic Epilepsy	Frontal balding, Premature skin wrinkling, EEG with polyspike wave complexes, Interictal epilepti...	ORPHA:1942
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Nail dysplasia, Brittle hair, Ectodermal dysplasia, Low-set ears, Progressive hypotrichosis, Spar...	OMIM:225060
Acrogeria	Skin ulcer, Excessive wrinkled skin, Prematurely aged appearance, Telangiectasia of the skin, Fin...	ORPHA:2500
Roifman Syndrome	Hepatomegaly, Lymphadenopathy, Splenomegaly, Eosinophilia, Prominent eyelashes	OMIM:616651
Hyperprolactinemia	Increased circulating prolactin concentration, Oligomenorrhea, Menorrhagia, Female infertility	OMIM:615555
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Decreased circulating total IgM, Squamous cell carcinoma, Sclerosing cholangitis, Increased circu...	OMIM:243700
Ataxia-Telangiectasia	Premature graying of hair, Delayed puberty, Elevated circulating hepatic transaminase concentrati...	ORPHA:100
Mucoepithelial Dysplasia, Hereditary	Nail dysplasia, Nail dystrophy, Follicular hyperkeratosis, Chronic monilial nail infection, Spars...	OMIM:158310
Congenital Myopathy 5 With Cardiomyopathy	Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Centrally nucleated skel...	OMIM:611705
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Frontalis muscle weakness, Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 f...	OMIM:300580
Ring Chromosome Y Syndrome	Ambiguous genitalia, male, Gonadal dysgenesis, Abnormal spermatogenesis, Bifid scrotum, Abnormali...	ORPHA:261529
Brachycephaly, Trichomegaly, And Developmental Delay	Brittle hair, Highly arched eyebrow, Low-set ears, Synophrys, Long eyelashes, Conductive hearing ...	OMIM:617412
Ghosal Hematodiaphyseal Dysplasia	Increased bone mineral density, Hyperostosis cranialis interna, Myelofibrosis	OMIM:231095
Hoyeraal-Hreidarsson Syndrome	Premature graying of hair, Nail dystrophy, Anemia, Abnormal leukocyte morphology, Sparse scalp ha...	ORPHA:3322
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Reduced natural killer cell count, B lymphocytopenia, T lymphocytopenia	OMIM:618108
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Abnormally low T cell receptor excision circle level, Eosinophilia, Thin eyebrow	OMIM:618092
Nemaline Myopathy 2	Muscle fiber splitting, Calf muscle pseudohypertrophy, Rimmed vacuoles, EMG: myopathic abnormalit...	OMIM:256030
Immunodeficiency 95	Increased circulating IgG3 level, Decreased circulating IgG3 level, Lymphopenia	OMIM:619773
Muscle Hypertrophy	Skeletal muscle hypertrophy	OMIM:614160
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Lymphadenopathy, Lymphoma, Splenomegaly, Weight loss, Breast carcinoma, B-cell lymp...	ORPHA:86893
Linear Skin Defects With Multiple Congenital Anomalies 2	Highly arched eyebrow, Nail dystrophy	OMIM:300887
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Short nail, Thick eyebrow, Long eyelashes	ORPHA:324540
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Abnormality of the pancreas, Hepatomegaly, Increased circula...	ORPHA:400
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Slow-growing hair, Ectodermal dysplasia, Dry skin, Sparse eyelashes, Sparse eyebrow,...	OMIM:129490
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Dyskeratosis Congenita, Autosomal Recessive 2	Nail dystrophy, Pancytopenia, Testicular atrophy, Bone marrow hypocellularity, Thrombocytopenia, ...	OMIM:613987
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial osteosclerosis, Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis	OMIM:122860
Immunodeficiency 27A	Anemia, Lymphadenopathy, Thrombocytosis, Increased circulating IgG level, Leukocytosis, Increased...	OMIM:209950
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Acute myeloid leukemia, Hemangioma, Acute lymphoblastic leukemia, Myelodysplasia...	ORPHA:486
Congenital Myopathy 15	Camptodactyly, Increased variability in muscle fiber diameter, Weakness of facial musculature, Fa...	OMIM:620161
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Muscular dystrophy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal ...	OMIM:617066
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres...	OMIM:600802
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Dystrophic toenail	OMIM:600882
Immunodeficiency, Common Variable, 4	Abnormal T cell count	OMIM:613494
Acromesomelic Dysplasia 1	Short nail	OMIM:602875
Albinism-Deafness Syndrome	Hypopigmented skin patches, Irregular hyperpigmentation, Piebald skin depigmentation, Heterochrom...	ORPHA:998
Yemenite Deaf-Blind Hypopigmentation Syndrome	White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles	OMIM:601706
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities	Nail dystrophy	OMIM:620502
Agammaglobulinemia 7, Autosomal Recessive	Abnormal T cell morphology, Reduced natural killer cell count, Neutropenia	OMIM:615214
Dyskeratosis Congenita, Autosomal Recessive 3	Nail dystrophy	OMIM:613988
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Anemia, Increased circulating antibody level, Failure to thrive, Leukopenia, Spleno...	OMIM:615285
Cranio-Osteoarthropathy	Joint stiffness, Arthritis, Abnormal cortical bone morphology, Osteoarthritis	ORPHA:1525
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Dysgammaglobulinemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytope...	OMIM:308240
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Tietz Albinism-Deafness Syndrome	Generalized hypopigmentation, Heterochromia iridis, White eyelashes, White eyebrow, Blue irides	OMIM:103500
Hypotrichosis 14	Sparse body hair, Short eyelashes, Sparse pubic hair, Sparse hair, Absent axillary hair	OMIM:618275
Hypotrichosis 5	Absent pubic hair, Abnormality of the nail, Abnormal sweat gland morphology, Sparse eyelashes, Th...	OMIM:612841
Aniridia 1	Bilateral ptosis, Corneal neovascularization, Aniridia, Corneal erosion, Hypoplasia of the iris, ...	OMIM:106210
Woolly Hair, Autosomal Dominant	Coarse hair, Slow-growing hair, Abnormal eyelash morphology, Woolly hair, Abnormal eyebrow morpho...	OMIM:194300
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility, Lack of oocyte pronucleus formation	OMIM:617996
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy, Impaired Ig class switch recombination, Decreased circulating IgG level, Increas...	OMIM:608106
Alopecia Totalis	Alopecia of scalp, Onycholysis, Fragile nails, Nail pits, Trachyonychia, Vitiligo, Alopecia totalis	ORPHA:700
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Woolly hair	OMIM:610476
Finnish Upper Limb-Onset Distal Myopathy	Amyotrophy of ankle musculature, Rimmed vacuoles, EMG: myopathic abnormalities, Weakness of the i...	ORPHA:399086
Cole Disease	Abnormal hair morphology, Abnormality of the nail, Hyperkeratosis, Palmoplantar keratoderma, Punc...	OMIM:615522
Incontinentia Pigmenti	Nail dysplasia, Breast hypoplasia, Nail dystrophy, Ridged nail, Breast aplasia, Onychogryposis, H...	OMIM:308300
Hypotrichosis 13	Sparse eyelashes, Sparse hair, Woolly hair, Abnormal sweat gland morphology	OMIM:615896
Eiken Syndrome	Abnormal bone ossification, Delayed epiphyseal ossification, Abnormal trabecular bone morphology,...	ORPHA:79106
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,...	OMIM:616636
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Rapp-Hodgkin Syndrome	Nail dystrophy, Pili canaliculi, Decreased number of sweat glands, Small nail, Slow-growing hair,...	OMIM:129400
Zebra Body Myopathy	Muscle fiber splitting, Torticollis, Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnorma...	ORPHA:97240
Erythrokeratodermia Variabilis	Irregular hyperpigmentation, Hypermelanotic macule, Abnormal hair morphology, Abnormality of the ...	ORPHA:317
Tumor Predisposition Syndrome 4	Stomach cancer, Glioma, Sarcoma, Meningioma, Breast carcinoma	OMIM:609265
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility, Abnormality of the menstrual cycle, Abnormal circulating estrogen level	OMIM:619009
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Type 1 muscle fiber predominance, Shoulder flexion contracture, Nemaline bodies, Hip contracture,...	OMIM:605355
Spermatogenic Failure 40	Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C...	OMIM:618664
Severe X-Linked Mitochondrial Encephalomyopathy	Increased variability in muscle fiber diameter, Skeletal muscle atrophy	ORPHA:238329
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormal hair morphology, Dry skin, Abnormal fingernail morphology, Abnormal toenail morphology, ...	ORPHA:248
Acute Erythroid Leukemia	Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Monoclonal i...	ORPHA:318
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Hypothyroidism, Failure to thrive, Hepatosplenomegaly, Eosinophi...	OMIM:618999
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Sterile abscess, Increased circulating IgE level, Eosinophilia, Cutaneous abscess, Decreased circ...	OMIM:618282
Restrictive Dermopathy	Short umbilical cord, Large placenta, Generalized hyperkeratosis, Small placenta, Sparse or absen...	ORPHA:1662
Oocyte/Zygote/Embryo Maturation Arrest 21	Female infertility	OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Hepatic Veno-Occlusive Disease	Increased total bilirubin, Hepatomegaly, Ascites	ORPHA:890
Diffuse Neonatal Hemangiomatosis	Polyhydramnios, Hemangiomatosis, Hydrops fetalis, Hepatomegaly, Ascites, Hypercalcemia, Visceral ...	ORPHA:2123
Porphyria Cutanea Tarda, Type I	Hypertrichosis, Hyperpigmentation of the skin	OMIM:176090
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Nail dystrophy, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase ...	OMIM:615895
Immunodeficiency 23	Increased circulating IgG level, Increased circulating IgE level, Hodgkin lymphoma, Failure to th...	OMIM:615816
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Scapular winging, Upper limb muscle weakn...	ORPHA:353
Familial Cervical Artery Dissection	Striae distensae, Stroke, Transient ischemic attack, Recurrent cerebral hemorrhage, Thin skin, Su...	ORPHA:36382
Hajdu-Cheney Syndrome	Hirsutism, Synophrys, Long eyelashes, Short nail, Thick eyebrow, Umbilical hernia, Cryptorchidism	OMIM:102500
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve...	ORPHA:226307
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Increased circulating IgE level	OMIM:618523
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Inflammatory abnormality of the eye, Arthritis, Skin rash, Pleural effusion, Lympho...	ORPHA:36412
Microcephalic Primordial Dwarfism, Montreal Type	Premature graying of hair, Alopecia of scalp, Low-set, posteriorly rotated ears, Prematurely aged...	ORPHA:2617
Spermatogenic Failure 63	Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility	OMIM:619689
Myopathy, Distal, 3	Muscular dystrophy, Distal amyotrophy, Rimmed vacuoles, EMG: myopathic abnormalities, Joint contr...	OMIM:610099
Waardenburg Syndrome, Type 2A	Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo...	OMIM:193510
Primary Intestinal Lymphangiectasia	Decreased circulating total IgM, Hypocalcemia, Hypoproteinemia, Decreased circulating antibody le...	ORPHA:90362
Erythrokeratodermia Variabilis Et Progressiva 6	Parakeratosis, Abnormal hair morphology	OMIM:618531
Pyle Disease	Limited elbow extension, Reduced bone mineral density, Thin bony cortex	OMIM:265900
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Muscular dystrophy, Muscle fiber necrosis, Limb muscle weakness, Limb-girdle muscle weakness, Cen...	OMIM:616812
Griscelli Syndrome, Type 2	Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos...	OMIM:607624
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Recurrent lower respiratory tract infections, Recurrent infections, Hypoproteinemia...	OMIM:226300
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Nail dystrophy, Leukopenia	OMIM:615190
Yellow Nail Syndrome	Yellow nails, Slow-growing nails	OMIM:153300
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Jaberi-Elahi Syndrome	Optic atrophy, Brittle hair, Low-set ears, Sparse eyelashes, Sparse eyebrow, Sparse hair, Protrud...	OMIM:617988
Prolidase Deficiency	Skin ulcer, Hepatomegaly, Hirsutism, Aplasia/Hypoplasia of the skin, Papule, White forelock, Thin...	ORPHA:742
Mandibuloacral Dysplasia With Type B Lipodystrophy	Progeroid facial appearance, Decreased adipose tissue around neck, Hyperinsulinemia, Brittle hair...	OMIM:608612
Dyskeratosis Congenita, Autosomal Dominant 6	Aplastic anemia, Bone marrow hypocellularity, Nail dystrophy, Pancytopenia	OMIM:616553
Leukonychia Totalis	Blepharitis, Abnormal eyelash morphology	ORPHA:2387
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Recurrent infections, Malar rash, Increased susceptibility to spontaneous sister chromatid exchange	OMIM:618097
Recessive Dystrophic Epidermolysis Bullosa Inversa	Nail dystrophy, Anemia, Anonychia	ORPHA:79409
Generalized Eruptive Keratoacanthoma	Ectropion, Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis	ORPHA:411777
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
19Q13.11 Microdeletion Syndrome	Nail dysplasia, Sparse or absent eyelashes, Hypospadias, Cachexia, Bifid scrotum, Sparse lateral ...	ORPHA:217346
Bone Marrow Failure Syndrome 5	Nail dystrophy, Anemia, Erythroid hypoplasia, Reticular hyperpigmentation, Pure red cell aplasia,...	OMIM:618165
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Thin skin, Failure to thrive, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Intrauterine growth...	ORPHA:261304
Ovarian Dysgenesis 2	Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hirsutism, Hypergonadotro...	OMIM:300510
Choroidal Atrophy-Alopecia Syndrome	Sparse or absent eyelashes, Ectodermal dysplasia, Abnormal fingernail morphology, Abnormal toenai...	ORPHA:1433
Focal Facial Dermal Dysplasia 3, Setleis Type	Distichiasis, Low anterior hairline, Sparse hair, Aged leonine appearance, Absent lower eyelashes	OMIM:227260
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Distal amyotrophy, Upper limb muscle weakness, Limb muscle weakness, Fiber type grouping, Angulat...	OMIM:608340
Immunodeficiency, Common Variable, 7	Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific...	OMIM:614699
Keratoderma Hereditarium Mutilans	Abnormality of the nail, Hyperkeratosis, Abnormal toenail morphology, Honeycomb palmoplantar hype...	ORPHA:494
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin, Ascites	OMIM:174050
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Lymphadenopat...	OMIM:606367
Reticular Dysgenesis	Anemia, Decreased circulating antibody level, Failure to thrive, Leukopenia, Weight loss, Aplasia...	ORPHA:33355
Erythrokeratoderma ''En Cocardes''	Abnormality of skin pigmentation	ORPHA:315
Acrodermatitis Enteropathica	Cheilitis, Corneal erosion, Abnormal eyelid morphology, Blepharitis, Pustule, Abnormal eyebrow mo...	ORPHA:37
Dermoodontodysplasia	Toenail dysplasia, Sparse scalp hair, Thin skin, Sparse body hair, Fingernail dysplasia, Melanocy...	ORPHA:1660
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Decreased circulating IgG level, Decreased circulating total IgM, Aga...	OMIM:613502
Sea-Blue Histiocytosis	Blepharitis	ORPHA:158029
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers, Fatty replacement o...	OMIM:618823
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Wolman Disease	Hepatomegaly, Anemia, Cachexia, Bone-marrow foam cells, Splenomegaly, Adrenal calcification, Adre...	ORPHA:75233
Agammaglobulinemia 10, Autosomal Dominant	Agammaglobulinemia, Decreased circulating IgG level, Transient neutropenia, Decreased circulating...	OMIM:619707
Bone Marrow Failure Syndrome 3	Aplastic anemia, Nail dystrophy, Hyperechogenic pancreas, Neutropenia, Acute myeloid leukemia, An...	OMIM:617052
Dermatoleukodystrophy	Macrotia, Premature skin wrinkling, Progeroid facial appearance	OMIM:221790
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Coffin-Siris Syndrome 5	Dystrophic toenail, Sparse scalp hair, Long eyelashes, Low anterior hairline, Thick eyebrow, Hypo...	OMIM:616938
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Abnormal B cell count, Decreased proportion of class-switched memory B cells	OMIM:613493
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Hirsutism, T lymphocytopenia, Decreas...	OMIM:617237
Witkop Syndrome	Ridged nail, Abnormal sweat gland morphology, Hypoplastic fifth toenail, Nail pits, Sparse hair, ...	OMIM:189500
Aredyld Syndrome	Hepatomegaly, Cachexia, Refractory anemia with ringed sideroblasts, Sparse body hair, Splenomegal...	ORPHA:1133
Spermatogenic Failure 79	Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility	OMIM:620196
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch...	OMIM:308230
Cardiofaciocutaneous Syndrome	Optic atrophy, Dystrophic fingernails, Excessive wrinkled skin, Sparse or absent eyelashes, Low-s...	ORPHA:1340
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Proximal muscle weakness in upper limbs, Limb muscle weakness, Increased variability in muscle fi...	OMIM:613954
Spermatogenic Failure 10	Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility	OMIM:614822
Spermatogenic Failure 11	Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility	OMIM:615081
Cranioectodermal Dysplasia 1	Hepatomegaly, Thin nail, Telecanthus, Slow-growing hair, Hypocalcemia, Short nail, Sparse hair, E...	OMIM:218330
Spermatogenic Failure 47	Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella	OMIM:619102
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Nail dystrophy, Mixed hearing impairment, Small nail, Microtia, Thyroid hypoplasia, Prolonged neo...	OMIM:620186
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Hypopigmented skin patches, Hyperpigmentation of the skin, Onychogryposis of fingernail, Ridged f...	ORPHA:2251
Griscelli Syndrome	Premature graying of hair, Abnormal circulating lipid concentration, Hepatomegaly, Silver-gray ha...	ORPHA:381
Metatropic Dysplasia	Abnormal cortical bone morphology, Abnormal enchondral ossification, Joint stiffness, Camptodacty...	ORPHA:2635
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Premature graying of hair, Nail dystrophy, Anemia, Thrombocytopenia, Lymphopenia, Cryptorchidism	OMIM:620365
Punctate Palmoplantar Keratoderma Type 1	Nail dystrophy, Pancreatic adenocarcinoma, Palmoplantar hyperkeratosis, Palmoplantar keratoderma,...	ORPHA:79501
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Neutropenia, Absent circulating B cells	OMIM:613501
Congenital Myopathy 20	Scapular winging, Nemaline bodies, Congenital contracture, Increased variability in muscle fiber ...	OMIM:620310
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dry hair, Nail dystrophy, High anterior hairline, Woolly scalp hair, Sparse scalp hair, Onycholys...	OMIM:620519
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Hemophagocytosis, Lymphadenopathy, Decreased circulating antibody level, Abnormal natural...	OMIM:613101
Congenital Myopathy 3 With Rigid Spine	Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Facial palsy, Increased vari...	OMIM:602771
Dermoodontodysplasia	Trichodysplasia, Thin skin, Nail dysplasia	OMIM:125640
Spermatogenic Failure 7	Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility	OMIM:612997
Burkitt Lymphoma	Decreased proportion of CD4-positive helper T cells, Abnormal lymph node morphology, Abnormality ...	ORPHA:543
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atrophic scars, Sparse scalp hair, Sparse eyelashes, Thin skin, Sparse eyebrow, Short stature, Gr...	ORPHA:75496
Meige Disease	Absence of lymph node germinal center, Angiosarcoma, Lymph node hypoplasia	ORPHA:90186
Restrictive Dermopathy 1	Short umbilical cord, Absent eyelashes, Sparse eyelashes, Hydropic placenta, Short nail, Sparse e...	OMIM:275210
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgE, T lymphocytopenia, Decreased proportion of memory B cells, Decreased c...	OMIM:619510
Idiopathic Chronic Eosinophilic Pneumonia	Hypereosinophilia, Increased circulating IgE level, Leukocytosis, Weight loss	ORPHA:2902
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hyperconvex nail, Nail dystrophy, Absent eyelashes, Lacrimal duct atresia, Patchy alopecia, Spars...	OMIM:106260
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat...	ORPHA:2585
Dihydropyrimidine Dehydrogenase Deficiency	Short nail, Long eyelashes	ORPHA:1675
Myopathy, X-Linked, With Excessive Autophagy	Muscle fiber necrosis, Skeletal muscle autophagosome accumulation, Skeletal muscle atrophy, Flexi...	OMIM:310440
Mirage Syndrome	Anemia, Adrenal hypoplasia, Decreased body weight, Hypergonadotropic hypogonadism, Decreased test...	OMIM:617053
Spermatogenic Failure 24	Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile...	OMIM:617959
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit...	OMIM:611102
Immunodeficiency 10	Nail dysplasia, Autoimmune hemolytic anemia, Increased circulating IgG3 level, Hepatomegaly, Lymp...	OMIM:612783
Eosinophilic Fasciitis	Eosinophilia, Abnormal eosinophil morphology, Weight loss	ORPHA:3165
Igg4-Related Aortitis	Increased circulating antibody level, Increased circulating IgE level, Reduced circulating comple...	ORPHA:449400
Combined Immunodeficiency Due To Dock8 Deficiency	B lymphocytopenia, T lymphocytopenia	ORPHA:217390
Immunodeficiency 32A	Granuloma, Lymphadenopathy, Lymphadenitis	OMIM:614893
Glycogen Storage Disease Ixd	Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Distal amyotr...	OMIM:300559
Tangier Disease	Nail dysplasia, Nail dystrophy, Splenomegaly	OMIM:205400
Polyembryoma	Isosexual precocious puberty, Increased serum testosterone level, Abnormality of the endocrine sy...	ORPHA:180229
Normosmic Congenital Hypogonadotropic Hypogonadism	Delayed puberty, Absence of secondary sex characteristics, Hypoplasia of the ovary, Impotence, Fe...	ORPHA:432
Undifferentiated Pleomorphic Sarcoma	Soft tissue sarcoma, Weight loss, Abnormal peritoneum morphology	ORPHA:2023
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:619165
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Congenital Multicore Myopathy With External Ophthalmoplegia	Internally nucleated skeletal muscle fibers, Muscular dystrophy, Tibialis anterior muscle atrophy...	ORPHA:98905
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy	Anterior cervical hypertrichosis	OMIM:239840
Congenital Heart Defects And Ectodermal Dysplasia	High anterior hairline, Medial flaring of the eyebrow, Sparse scalp hair, Thin skin, Fragile nail...	OMIM:617364
Dyskeratosis Congenita	Premature graying of hair, Nail dystrophy, Neoplasm of the pancreas, Hepatomegaly, Periodontitis,...	ORPHA:1775
Immunodeficiency 46	Chronic oral candidiasis, Sepsis, Recurrent sinopulmonary infections, Conjunctivitis, Meningitis	OMIM:616740
Classic Mycosis Fungoides	Hypopigmented skin patches, Irregular hyperpigmentation, Lymphadenopathy, Abnormality of the nail...	ORPHA:2584
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Nail dystrophy, Brittle hair, Protruding ear, Dry hair, Cupped ear	ORPHA:93947
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Horizontal eyebrow, Blepharitis, Pustule, Recurrent gastroen...	ORPHA:294023
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Short stature, Reduced sperm motility, Splenomegaly, Disproportionate short-trunk sho...	OMIM:602271
Asherman Syndrome	Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc...	ORPHA:137686
Larsen Syndrome	Short nail, Cryptorchidism, Spina bifida occulta	OMIM:150250
Immunodeficiency 54	Hepatomegaly, Chromosome breakage, Recurrent viral infections, Splenomegaly, Recurrent respirator...	OMIM:609981
Ullrich Congenital Muscular Dystrophy	Torticollis, Elbow flexion contracture, EMG: myopathic abnormalities, Increased variability in mu...	ORPHA:75840
Childhood-Onset Nemaline Myopathy	Generalized limb muscle atrophy, Facial diplegia, Scapular winging, EMG: myopathic abnormalities,...	ORPHA:171439
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Muscle fiber splitting, Muscular dystrophy, Rimmed vacuoles, Facial palsy, Flexion contracture, P...	OMIM:603511
Congenital Myopathy 10A, Severe Variant	Facial palsy, EMG: myopathic abnormalities, Muscle fiber necrosis, Camptodactyly of finger, Incre...	OMIM:614399
Laryngeal Neuroendocrine Tumor	Adrenocorticotropic hormone excess, Neoplasm of the larynx, Inappropriate antidiuretic hormone se...	ORPHA:100083
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Dyskeratosis Congenita, Autosomal Dominant 1	Premature graying of hair, Aplastic anemia, Nail dystrophy, Anemia, Ridged nail, Increased mean c...	OMIM:127550
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
46,Xx Gonadal Dysgenesis	Abnormality of secondary sexual hair, Gonadal dysgenesis, Premature ovarian insufficiency, Delaye...	ORPHA:243
Spermatogenic Failure 41	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm	OMIM:618670
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphadenopathy, Lymphocytosis, Thyroiditis, Weight loss, Eosinophilia, Hepatitis	ORPHA:139402
Nicolaides-Baraitser Syndrome	Excessive wrinkled skin, Curly eyelashes, Highly arched eyebrow, Abnormal testis morphology, Long...	ORPHA:3051
Acrocapitofemoral Dysplasia	Short nail, Broad nail	OMIM:607778
Hemochromatosis, Type 1	Hepatomegaly, Hepatocellular carcinoma, Pleural effusion, Ascites, Increased circulating iron con...	OMIM:235200
Congenital Myopathy 10B, Mild Variant	Increased endomysial connective tissue, Generalized limb muscle atrophy, Type 1 and type 2 muscle...	OMIM:620249
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Myositis, Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Skel...	OMIM:615422
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Decreased circulating an...	ORPHA:397596
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Recurrent loss of toenails and fingernails, Nail dystrophy	OMIM:245660
Kaposi Sarcoma	Hypermelanotic macule, Venous insufficiency, Papule, Skin nodule, Macule, Abnormality of the sple...	ORPHA:33276
Chylous Ascites	Lymphedema, Pancreatitis, Ascites, Neoplasm	ORPHA:1160
Cushing Disease	Increased body weight, Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Lymphopenia, St...	ORPHA:96253
Splenoportal Vascular Anomalies	Hyperammonemia, Splenomegaly, Ascites	OMIM:271500
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent abscess formation, Abnormal circulating interferon-gamma concentration, Hepatomegaly, R...	ORPHA:79124
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Myopathy, Myofibrillar, 7	Shoulder flexion contracture, Type 2 muscle fiber predominance, Elbow flexion contracture, Z-band...	OMIM:617114
Osteogenesis Imperfecta, Type Xxii	Multiple prenatal fractures, Reduced bone mineral density, Recurrent fractures, Thin bony cortex	OMIM:619795
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Brittle hair, Periorbital wrinkles, Absent eyelashes, Hypoplastic nipples, Absent nipple, Dry ski...	OMIM:305100
Creatine Phosphokinase, Elevated Serum	Muscular dystrophy, Inflammatory myopathy, EMG: myopathic abnormalities, Abnormal muscle fiber mo...	OMIM:123320
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia, ...	OMIM:608184
Hypodontia-Dysplasia Of Nails Syndrome	Hypoplastic fingernail, Abnormality of the nail, Abnormal fingernail morphology, Fragile nails, T...	ORPHA:2228
Immunodeficiency 70	Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Verruca...	OMIM:618969
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Fine hair, Cryptorchidism, Sparse hair	ORPHA:1174
Dermatitis, Atopic	Keratoconus, Atopic dermatitis, Eczematoid dermatitis, Conjunctivitis, Cataract, Recurrent skin i...	OMIM:603165
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Reticulum Cell Sarcoma	Sarcoma, Neoplasm	OMIM:267730
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Pelvic girdle muscle wea...	ORPHA:119
Immunodeficiency, Common Variable, 11	Abnormal T cell count, Decreased proportion of class-switched memory B cells	OMIM:615767
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Refra...	ORPHA:75564
Immunodeficiency 62	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:618459
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Pancytopenia, Abnorm...	ORPHA:507
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Palpebral edema, Hydrops fetalis, Predominantly lower limb lymphedema, Absent eyelashes, Pleural ...	ORPHA:69735
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Decreased circulating IgG level, Leukopenia, Splenomegaly, Lymphopenia, Decreased c...	OMIM:620210
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Nail dysplasia, Nail dystrophy, Anemia, Hyperpigmentation of the skin, Alopecia	OMIM:175500
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Reduced natural killer cel...	OMIM:615592
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Neutrophilia, Decr...	OMIM:619281
Sting-Associated Vasculopathy, Infantile-Onset	Nail dystrophy, Anemia, Periungual erythema, Paratracheal lymphadenopathy, Nailfold capillary tor...	OMIM:615934
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Brittle hair, Sparse eyebrow, Hydrocele testis	OMIM:618810
Diencephalic Syndrome	Cachexia, Neoplasm of the nervous system, Decreased body weight, Abnormality of the hypothalamus-...	ORPHA:1672
Wiskott-Aldrich Syndrome	Chronic otitis media, Hematemesis, Sinusitis, Epistaxis, Hematochezia, Vasculitis, Inflammation o...	ORPHA:906
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets	OMIM:619065
Cyclic Neutropenia	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Lymphopenia, Tooth abscess, Thrombocyto...	ORPHA:2686
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Nail dysplasia, Nail dystrophy, Anonychia	OMIM:226730
Majeed Syndrome	Hepatomegaly, Hypochromic microcytic anemia, Cachexia, Leukocytosis, Failure to thrive, Splenomeg...	ORPHA:77297
Woolly Hair-Skin Fragility Syndrome	Palmoplantar keratoderma, Acantholysis, Woolly hair	OMIM:620415
Alveolar Echinococcosis	Abnormal adrenal morphology, Liver abscess, Anemia, Jaundice, Cholangitis, Increased circulating ...	ORPHA:284
Proteus Syndrome	Calvarial hyperostosis, Facial hyperostosis, Mandibular hyperostosis, Thin bony cortex	OMIM:176920
Follicular Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology, Lymphoma, Splenomeg...	ORPHA:545
Hyperbilirubinemia, Rotor Type	Abnormality of skin pigmentation	OMIM:237450
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Ichthyosis, Hystrix-Like, With Deafness	Scarring alopecia of scalp, Absent eyelashes, Hyperkeratosis, Sparse scalp hair, Cobblestone-like...	OMIM:602540
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
17Q23.1Q23.2 Microdeletion Syndrome	Chronic otitis media, Highly arched eyebrow, Pulmonary arterial hypertension, Long eyelashes, Ble...	ORPHA:261279
Waardenburg Syndrome, Type 4B	Premature graying of hair, Hypopigmented skin patches, Heterochromia iridis, White forelock, Whit...	OMIM:613265
Olmsted Syndrome 2	Parakeratosis, Perioral hyperkeratosis, Hyperkeratosis, Woolly hair, Sparse hair, Palmoplantar hy...	OMIM:619208
Cushing Syndrome Due To Ectopic Acth Secretion	Pheochromocytoma, Increased body weight, Adrenal hyperplasia, Pulmonary carcinoid tumor, Lymphope...	ORPHA:99889
Congenital Myopathy 1B, Autosomal Recessive	Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Facial palsy, Nemaline bodie...	OMIM:255320
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Flexi...	OMIM:618484
Hip Dysplasia, Beukes Type	Abnormality of bone mineral density, Abnormal bone ossification, Abnormal ossification involving ...	ORPHA:2114
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni...	ORPHA:983
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hodgkin lymphoma, Splenomegaly, Reduced natural killer cell count, Neutropenia, T-cell lymphoma, ...	ORPHA:158057
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Ectodermal Dysplasia-Syndactyly Syndrome 1	Coarse hair, Small nail, Ectodermal dysplasia, Patchy alopecia, Sparse scalp hair, Sparse eyelash...	OMIM:613573
Hereditary Folate Malabsorption	Pancytopenia, Megaloblastic anemia, Decreased circulating antibody level, Failure to thrive, Thro...	ORPHA:90045
Woolly Hair Nevus	Woolly scalp hair, Curly hair, Precocious puberty, Congenital posterior occipital alopecia, Enlar...	ORPHA:79414
Acquired Partial Lipodystrophy	Lymphocytosis, Hearing impairment, Generalized hirsutism, Progeroid facial appearance	ORPHA:79087
Dyskeratosis Congenita, Autosomal Dominant 3	Nail dysplasia, Premature graying of hair, Nail dystrophy, Aplastic anemia, Neutropenia, Anemia, ...	OMIM:613990
Immunodeficiency 81	Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Decreased pro...	OMIM:619374
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, Myeloproliferative diso...	ORPHA:3226
Fanconi Anemia, Complementation Group S	Ovarian neoplasm, Breast carcinoma, Long eyelashes, Chromosome breakage, Low anterior hairline, E...	OMIM:617883
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pancreatitis, Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical dis...	OMIM:610475
Boucher-Neuhauser Syndrome	Decreased circulating gonadotropin concentration, Hypogonadotropic hypogonadism	OMIM:215470
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Myopathy, Myofibrillar, 4	Muscle fiber splitting, Autophagic vacuoles, EMG: myopathic abnormalities, Myofibrillar myopathy	OMIM:609452
Aspergillosis	Increased circulating IgE level, Hematological neoplasm, Eosinophilia, Hepatitis, Neutropenia	ORPHA:1163
Carvajal Syndrome	Woolly hair	ORPHA:65282
Combined Oxidative Phosphorylation Deficiency 10	Hyperalaninemia, Ascites, Pleural effusion, Pericardial effusion, Hyperammonemia, Oligohydramnios	OMIM:614702
Aids Wasting Syndrome	Cachexia, Weight loss, Abnormal gonadotropin-releasing hormone concentration	ORPHA:90081
Bone Marrow Failure Syndrome 2	Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia	OMIM:615715
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Fibroma, Lymphadenopathy, Decreased circulating antibody level, Hypothyroidism, Hepatosplenomegal...	OMIM:619750
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Increased variability in muscle fiber diameter, Macroglossia, Skeletal muscle atrophy	OMIM:151800
Dyskeratosis Congenita, Autosomal Recessive 8	Nail dystrophy, Pancytopenia, B lymphocytopenia, Sparse scalp hair, Bone marrow hypocellularity, ...	OMIM:620133
Congenital Erythropoietic Porphyria	Ectropion, Increased erythrocyte protoporphyrin concentration, Loss of eyelashes, Reduced haptogl...	ORPHA:79277
Hydrops Fetalis	Polyhydramnios, Lymphedema, Pleural effusion, Ascites, Generalized edema, Pericardial effusion, N...	ORPHA:1041
Osteopetrosis, Autosomal Recessive 4	Increased bone mineral density, Osteopetrosis, Recurrent fractures	OMIM:611490
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Lethal Recessive Chondrodysplasia	Generalized osteosclerosis	ORPHA:1423
Immunodeficiency 26 With Or Without Neurologic Abnormalities	B lymphocytopenia, Abnormal natural killer cell morphology, T lymphocytopenia	OMIM:615966
Esophagitis, Eosinophilic, 2	Eosinophilia, Failure to thrive	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia, Failure to thrive	OMIM:610247
Revesz Syndrome	Aplastic anemia, Nail dystrophy, Macrocytic anemia, Bone marrow hypocellularity, Nail pits, Ridge...	OMIM:268130
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormal fingernail morphology, Thin skin, Sparse body hair, Sparse hair	ORPHA:1810
Hypotrichosis Simplex Of The Scalp	Slow-growing scalp hair, Alopecia of scalp, Parakeratosis, Hyperkeratosis, Sparse scalp hair, Fin...	ORPHA:90368
Ck Syndrome	Joint hypermobility, Abnormal cortical bone morphology	OMIM:300831
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Absent circulating B cells	OMIM:613500
Trichodermodysplasia-Dental Alterations Syndrome	Adenoma sebaceum, Sparse or absent eyelashes, Brittle hair, Sparse scalp hair, Sparse lateral eye...	ORPHA:3353
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia	OMIM:152800
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Premature graying of hair, Nail dysplasia, Nail dystrophy, Postnatal growth retardation, Anemia, ...	OMIM:612199
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abs...	OMIM:150550
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Nail dystrophy, Lymphadenopathy, Iron deficiency anemia, Reduced pro...	ORPHA:37042
Focal Facial Dermal Dysplasia Type Iii	Highly arched eyebrow, Prematurely aged appearance, Redundant skin, Distichiasis, Sparse lateral ...	ORPHA:1807
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Cutis marmorata, Brittle hair	OMIM:236200
Ichthyosis, Annular Epidermolytic, 1	Hyperparakeratosis, Abnormal hair morphology, Abnormality of the nail, Palmoplantar hyperkeratosi...	OMIM:607602
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Lymphatic Malformation 5	Yellow nails	OMIM:153200
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Decreased proportion of class-switched memory B cel...	OMIM:614700
Hypotonia, Infantile, With Psychomotor Retardation	Increased variability in muscle fiber diameter, Myopathy	OMIM:616816
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Autoimmune hemolytic anemia, Decreased circulating total IgM, Increased circulating interleukin 6...	OMIM:620430
Xp22.3 Microdeletion Syndrome	Sacral dimple, Secondary amenorrhea, Aplasia/Hypoplasia of the skin, Short stature, Polycystic ov...	ORPHA:1643
Transaldolase Deficiency	Anemia, Premature skin wrinkling, Thrombocytopenia, Hepatosplenomegaly, Telangiectasia	ORPHA:101028
Gorham-Stout Disease	Osteopenia, Abnormal bone ossification, Osteolysis involving bones of the lower limbs, Osteolysis...	ORPHA:73
Trichothiodystrophy	Alopecia of scalp, Dystrophic fingernails, Anemia, Protruding ear, Ridged nail, Increased mean co...	ORPHA:33364
Oculocutaneous Albinism Type 3	Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit...	ORPHA:79433
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly, Abnormality of the menstrual cycle	ORPHA:721
Pseudopelade Of Brocq	Abnormal hair morphology, Abnormality of the nail, Sparse scalp hair, Aplasia/Hypoplasia of the e...	ORPHA:129
Elastoderma	Cutis laxa, Premature skin wrinkling	ORPHA:228240
Nijmegen Breakage Syndrome-Like Disorder	Chromosomal breakage induced by ionizing radiation, Decreased circulating antibody level	OMIM:613078
Spermatogenic Failure 70	Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia	OMIM:619828
Glycogen Storage Disease Iv	Hydrops fetalis, Polyhydramnios, Ascites, Hepatosplenomegaly, Edema, Abnormal circulating creatin...	OMIM:232500
Fetal Parvovirus Syndrome	Hydrops fetalis, Ascites, Increased nuchal translucency	ORPHA:295
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Meningioma	Enlarged pituitary gland, Reduced circulating prolactin concentration, Decreased circulating ACTH...	ORPHA:2495
Eosinophilic Gastroenteritis	Eosinophilia, Anemia, Leukocytosis, Weight loss	ORPHA:2070
Cutis Laxa, Autosomal Recessive, Type Iiia	Short stature, Thin skin, Failure to thrive, Sparse hair, Intrauterine growth retardation, Crypto...	OMIM:219150
Li-Fraumeni Syndrome	Acute leukemia, Prostate neoplasm, Neoplasm of the pancreas, Soft tissue sarcoma, Choriocarcinoma...	OMIM:151623
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Dystrophic fingernails, Abnormal hair morphology, Increased circulating IgE level, Lymphoma, Eosi...	ORPHA:2314
Autosomal Dominant Deafness-Onychodystrophy Syndrome	Absent fingernail, Absent toenail, Absent fifth fingernail, Aplasia/Hypoplasia of the nails, Hypo...	ORPHA:79499
Proteus-Like Syndrome	Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland, Splenomegaly	ORPHA:2969
Elejalde Neuroectodermal Melanolysosomal Syndrome	Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos...	OMIM:256710
Grant Syndrome	Joint hypermobility, Abnormal cortical bone morphology, Decreased skull ossification	ORPHA:2097
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Nail dysplasia, Nail dystrophy, Anemia, Alopecia	OMIM:226600
Bazex-Dupré-Christol Syndrome	Trichorrhexis nodosa, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Macrotia, Spars...	ORPHA:113
Immunodeficiency 9	Abnormal natural killer cell count, Hypoplasia of the thymus, Failure to thrive, Decreased circul...	OMIM:612782
Tooth Agenesis, Selective, 4	Dystrophic fingernails, Dystrophic toenail, Sparse scalp hair, Sparse body hair, Short eyelashes,...	OMIM:150400
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Fatty replacement o...	ORPHA:397744
Cutis Laxa, Autosomal Dominant 2	Cutis laxa, Premature skin wrinkling	OMIM:614434
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Leukonychia, Hyperkeratosis, Onycholysis, Punctate palmoplantar hyperkeratosis, Acantholysis, Fol...	OMIM:616295
Immunodeficiency 60 And Autoimmunity	Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni...	OMIM:618394
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, Brittle hair, B lymphocytopenia, Sensorineural hearing impairment,...	OMIM:616084
Agammaglobulinemia 6, Autosomal Recessive	Recurrent otitis media, Recurrent bronchitis, Recurrent pneumonia, Conjunctivitis, Recurrent bact...	OMIM:612692
Hepatoerythropoietic Porphyria	Ectropion, Loss of eyelashes, Scarring alopecia of scalp, Keratoconjunctivitis, Recurrent bacteri...	ORPHA:95159
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho...	OMIM:615607
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Abnormal pancreas ...	ORPHA:449432
Satoyoshi Syndrome	Amenorrhea, Sparse or absent eyelashes, Abnormal hair morphology, Hypoplasia of the ovary, Abnorm...	ORPHA:3130
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia, Lymphadenopathy	ORPHA:158014
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Isolated Follicle Stimulating Hormone Deficiency	Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at...	ORPHA:52901
Atypical Werner Syndrome	Premature graying of hair, Delayed puberty, White forelock, Abnormal hair whorl, Peripheral arter...	ORPHA:79474
Myoglobinuria, Recurrent	Ragged-red muscle fibers	OMIM:550500
Craniofaciofrontodigital Syndrome	Premature skin wrinkling, Thick hair, Sacral hypertrichosis, Cutis laxa, Low anterior hairline, C...	ORPHA:363705
Albinism, Oculocutaneous, Type Ii	Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles...	OMIM:203200
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Spinal muscular atrophy, Increased variability in muscle fiber diameter, Flexion contracture, Ske...	OMIM:616867
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmented micronodu...	OMIM:610489
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Short nail, Sparse scalp hair	OMIM:271640
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Hypotrichosis 8	Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Sparse eyebrow, Nail ...	OMIM:278150
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Decreased proportion of class-switched memory ...	OMIM:618944
Ovarian Fibrothecoma	Fibrosarcoma, Ovarian fibroma, Hirsutism, Pleural effusion, Ascites, Peritonitis, Diffuse leiomyo...	ORPHA:314478
Pituitary Adenoma 4, Acth-Secreting	Hirsutism, Thin skin, Oligomenorrhea, Pituitary adenoma, Obesity, Abdominal obesity, Increased ci...	OMIM:219090
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level,...	OMIM:616100
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis	OMIM:617772
Syndromic Diarrhea	Trichorrhexis nodosa, Hypopigmentation of hair, Brittle hair, Uncombable hair, Hypoplasia of the ...	ORPHA:84064
N Syndrome	Abnormality of chromosome stability, Leukemia, Neoplasm	OMIM:310465
Geroderma Osteodysplasticum	Premature skin wrinkling, Abnormal hair morphology, Cutis laxa, Neonatal wrinkled skin of hands a...	OMIM:231070
Perrault Syndrome 4	Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus...	OMIM:615300
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Increased circulating IgG level, Splenomegaly, Decr...	OMIM:618495
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Nail dystrophy, Anemia, Hyperpigmentation of the skin, Alopecia, Hypopigmentation of the skin, Ge...	ORPHA:79396
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy, Hypopigmentation of hair, Neoplasm of the breast, Abnormal eye...	ORPHA:2221
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Esophageal neoplasm, Hepatomegaly, Ascites	ORPHA:2198
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Trichohepatoenteric Syndrome 1	Trichorrhexis nodosa, Jaundice, Brittle hair, Microtia, Low-set ears, Woolly hair, Curly hair, In...	OMIM:222470
Combined Oxidative Phosphorylation Deficiency 36	Sensorineural hearing impairment, Low-set ears, Premature skin wrinkling	OMIM:617950
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Decreased cir...	OMIM:301000
Aggressive Systemic Mastocytosis	Anemia, Increased proportion of CD25+ mast cells, Lymphadenopathy, Pancytopenia, Leukocytosis, Po...	ORPHA:98850
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Skin ulcer, Venous insufficiency, Aplasia/Hypoplasia of the skin, Thin skin, Abnormal cerebral va...	ORPHA:743
Lichen Planopilaris	Hypopigmented skin patches, Hyperkeratosis, Onycholysis, Abnormal fingernail morphology, Alopecia	ORPHA:525
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Dyskeratosis Congenita, X-Linked	Premature graying of hair, Nail dystrophy, Acute myeloid leukemia, Squamous cell carcinoma, Ptery...	OMIM:305000
Yellow Nail Syndrome	Yellow nails, Renal neoplasm, Toenail dysplasia, Lymphedema, Neoplasm of the lung, Sinusitis, Ony...	ORPHA:662
Cataract-Intellectual Disability-Hypogonadism Syndrome	Low-set, posteriorly rotated ears, Abnormal antihelix morphology, Prematurely aged appearance, Lo...	ORPHA:1387
Thyroid Hormone Resistance, Selective Pituitary	Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti...	OMIM:145650
Maffucci Syndrome	Neoplasm of the parathyroid gland, Hemangiomatosis, Ovarian neoplasm, Neoplasm of the adrenal cor...	ORPHA:163634
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615270
Melanoma-Pancreatic Cancer Syndrome	Squamous cell carcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Sarcoma, Pancreatic ade...	OMIM:606719
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Subperiosteal bone formation, Osteosclerosis of the base of the skull	OMIM:609993
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Facial edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites...	OMIM:265300
Spermatogenic Failure 81	Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility	OMIM:620277
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Delayed puberty, Absence of secondary sex characteristics, Small pituitary gland, Impotence, Abno...	ORPHA:2232
Spermatogenic Failure 29	Male infertility, Immotile sperm, Non-obstructive azoospermia	OMIM:618091
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Recurrent infections, Hepatocellular carcinoma, Ascites, Splenomegaly	OMIM:619463
Lethal Congenital Contracture Syndrome Type 1	Limitation of joint mobility, Abnormal cortical bone morphology, Recurrent fractures	ORPHA:1486
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy	ORPHA:1962
Laryngotracheoesophageal Cleft Type 4	Cachexia, Abnormal mesentery morphology, Abnormality of the spleen	ORPHA:93941
Florid Cemento-Osseous Dysplasia	Multiple bony cystic lesions, Abnormal bone structure, Abnormal trabecular bone morphology, Mandi...	ORPHA:83451
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Infertility, Splenomegaly, Amenorrhea, Hypogonadotropic hyp...	OMIM:602390
Ataxia-Telangiectasia	Delayed puberty, Abnormal hair morphology, Decreased circulating IgA level, Lymphoma, Hypoplasia ...	OMIM:208900
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Anasarca, Polyhydramnios, Hypocalcemia, Decreased circulating antibody leve...	OMIM:618183
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:609129
Hepatoportal Sclerosis	Recurrent infections, Hyperbilirubinemia, Hepatocellular carcinoma, Ascites, Splenomegaly, Hypoal...	ORPHA:64743
Immunodeficiency 22	Chronic oral candidiasis, Panniculitis, Recurrent lower respiratory tract infections, Decreased c...	OMIM:615758
Multiminicore Myopathy	Muscular dystrophy, Proximal muscle weakness in upper limbs, Minicore myopathy, Abnormal muscle f...	ORPHA:598
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Nail dystrophy, Hypoparathyroidism, Cholelithiasis, Asplenia, Vitiligo, Alopecia universalis, Pig...	OMIM:240300
Refractory Anemia	Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Single lineage m...	ORPHA:98826
Hemophagocytic Lymphohistiocytosis, Familial, 4	Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Neutropenia	OMIM:603552
Nephrosialidosis	Pericardial effusion, Ascites	OMIM:256150
Eec Syndrome	Nail dystrophy, Decreased response to growth hormone stimulation test, Anterior hypopituitarism, ...	ORPHA:1896
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Abnormal cerebral vascular morphology, Thin skin, Aplasia/Hypoplasia of the skin, Venous insuffic...	ORPHA:745
Wells Syndrome	Eosinophilia	ORPHA:901
Dyskeratosis Congenita, Digenic	Nail dystrophy, Anemia, Sparse eyelashes, Abnormality of skin pigmentation, Decreased testicular ...	OMIM:620040
Obesity Due To Congenital Leptin Deficiency	Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se...	ORPHA:66628
Acquired Ichthyosis	Sarcoma, Neoplasm, Lymphoma, Multiple myeloma	ORPHA:454
X-Linked Centronuclear Myopathy	Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated skeletal muscle fibers, ...	ORPHA:596
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Stillbirth, Thin skin, Disproportionate short-limb short stature	OMIM:259410
Lacrimal Duct Defect	Lacrimal duct atresia, Sinusitis, Dacryocystitis, Conjunctivitis, Dacryocystocele	OMIM:149700
Deafness, Autosomal Recessive 9	Sensorineural hearing impairment, Absent brainstem auditory responses	OMIM:601071
Classic Hodgkin Lymphoma	Hepatomegaly, Lymphadenopathy, Lymphoma, Bone marrow hypocellularity, Splenomegaly, Weight loss, ...	ORPHA:391
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Ascites, Edema, Hypoalbuminemia, Elevated circulating creatinine concentration, Oli...	OMIM:608104
46,Xy Partial Gonadal Dysgenesis	Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor...	ORPHA:251510
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Delayed puberty, Brittle hair, Chordee, Type II diabetes mellitus, Sparse hair, Fine hair	OMIM:618891
Bloom Syndrome	Squamous cell carcinoma, Malar rash, Leukemia, Abnormality of chromosome stability, Lymphoma, Dec...	OMIM:210900
Fanconi Anemia, Complementation Group G	Leukemia, Abnormality of chromosome stability, Myelodysplasia	OMIM:614082
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Webbed neck, Cigarette-paper scars, Short stature, Thin skin, Moderately short stature, Prominent...	OMIM:612350
Hawkinsinuria	Hypothyroidism, Fine hair, Sparse hair	ORPHA:2118
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Abnormal sweat gland morphology, Abnormality of the nail, Absent eyelashes, Sparse scalp hair, Ab...	OMIM:607823
Ramon Syndrome	Hyperkeratosis, Abnormality of retinal pigmentation, Generalized hirsutism	ORPHA:3019
Scleroderma, Familial Progressive	Chromosome breakage, Calcinosis, Abnormal abdomen morphology, Abnormality of chromosome stability	OMIM:181750
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Cheilitis, Hyperconvex fingernails, Sparse hair, Thin fingernail, Abnormal hair morphology, Abnor...	ORPHA:2273
Congenital Disorder Of Glycosylation, Type Il	Hydrops fetalis, Hepatomegaly, Ascites, Pericardial effusion, Splenomegaly, Hypoalbuminemia, Hypo...	OMIM:608776
Obesity Due To Leptin Receptor Gene Deficiency	Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se...	ORPHA:179494
Peripheral Primitive Neuroectodermal Tumor	Spinal cord tumor, Pelvic mass, Neoplasm of the pancreas, Pancreatitis, Ovarian neoplasm, Ascites...	ORPHA:370348
Schnitzler Syndrome	Increased bone mineral density, Arthritis	ORPHA:37748
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Myelodysplasia...	ORPHA:231401
Primary Ciliary Dyskinesia	Male infertility, Transposition of the great arteries, Abnormal inferior vena cava morphology, As...	ORPHA:244
X-Linked Agammaglobulinemia	Anemia, Alopecia, Abnormality of the tonsils, Abnormality of the lymphatic system, Failure to thr...	ORPHA:47
Wrinkly Skin Syndrome	Short nail, Fragile nails, Sparse hair, Umbilical hernia, Cryptorchidism	OMIM:278250
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Abnor...	ORPHA:54251
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Anterior hypopituit...	ORPHA:2235
Autosomal Agammaglobulinemia	Chronic otitis media, Sepsis, Recurrent respiratory infections, Recurrent infections, Arthritis, ...	ORPHA:33110
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Thin skin, Failure to thrive, Moderately short stature	ORPHA:157965
Deafness, Autosomal Recessive 104	Prelingual sensorineural hearing impairment, Absent brainstem auditory responses	OMIM:616515
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Abcd Syndrome	Aganglionic megacolon, Total intestinal aganglionosis, Abnormal auditory evoked potentials, Heari...	OMIM:600501
Proximal Myopathy With Extrapyramidal Signs	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Centr...	ORPHA:401768
Cog5-Cdg	Abnormality of the frontal hairline, Premature skin wrinkling, Sensorineural hearing impairment, ...	ORPHA:263487
Trichothiodystrophy 2, Photosensitive	Tiger tail banding, Coarse hair, Cutaneous photosensitivity	OMIM:616390
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Nail dysplasia, Abnormality of skin pigmentation, Sparse eyebrow, Sparse scalp hair	OMIM:225050
Darier Disease	Hypermelanotic macule, Abnormal hair morphology, Abnormality of the nail, Abnormality of skin pig...	ORPHA:218
Oculodentodigital Dysplasia	Optic atrophy, Brittle hair, Slow-growing hair, Abnormality of the nail, Abnormal pinna morpholog...	ORPHA:2710
Campomelic Dysplasia	Spinal dysraphism, Short nail, Spina bifida	OMIM:114290
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Vitreoretinopathy, Neovascular Inflammatory	Vitreous hemorrhage, Posterior retinal neovascularization, Peripheral retinal neovascularization,...	OMIM:193235
Galactose Epimerase Deficiency	Jaundice, Splenomegaly, Weight loss, Hepatomegaly	ORPHA:79238
Immunodeficiency By Defective Expression Of Mhc Class Ii	Autoimmune hemolytic anemia, Sclerosing cholangitis, Pancytopenia, Panhypogammaglobulinemia, Neut...	ORPHA:572
Free Sialic Acid Storage Disease	Hydrops fetalis, Hepatomegaly, Ascites, Splenomegaly, Recurrent respiratory infections	ORPHA:834
Sialidosis Type 2	Hydrops fetalis, Hepatomegaly, Ascites, Splenomegaly, Pedal edema	ORPHA:87876
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Splenomegaly, Polyhydramnios, Oligohydramnios, Ascites	ORPHA:1046
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia	OMIM:253600
Ectodermal Dysplasia-Skin Fragility Syndrome	Nail dystrophy, Sparse hair, Palmoplantar keratoderma, Alopecia universalis, Follicular hyperkera...	ORPHA:158668
Secondary Intestinal Lymphangiectasia	Anasarca, Decreased circulating total IgM, Intestinal lymphedema, Recurrent infections, Decreased...	ORPHA:90363
Cirrhotic Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Pulmonary edema, Peripheral edema,...	ORPHA:57777
Vogt-Koyanagi-Harada Disease	Premature graying of hair, Hypopigmented skin patches, Abnormal eyelash morphology, Sparse scalp ...	ORPHA:3437
Mulibrey Nanism	Hydrops fetalis, Hepatomegaly, Recurrent lower respiratory tract infections, Ascites, Nephroblastoma	OMIM:253250
Cardiofaciocutaneous Syndrome 2	Low-set ears, Absent eyebrow, Curly hair, Posteriorly rotated ears, Sparse hair, Fine hair	OMIM:615278
Premature Ovarian Failure 22	Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second...	OMIM:620548
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Central hypothyroidism, Hypochromi...	ORPHA:514
Autoimmune Hepatitis	Increased circulating antibody level, Sclerosing cholangitis, Increased circulating IgG level, Th...	ORPHA:2137
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	EMG: myopathic abnormalities, Limb muscle weakness, Increased variability in muscle fiber diamete...	ORPHA:486815
Ciliary Dyskinesia, Primary, 50	Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit...	OMIM:620356
Wolcott-Rallison Syndrome	Hepatomegaly, Recurrent infections, Hyperbilirubinemia, Dehydration, Ascites, Hyperammonemia, Hyp...	ORPHA:1667
Microphthalmia, Syndromic 8	Cryptorchidism, Premature skin wrinkling	OMIM:601349
Piebald Trait	Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven...	OMIM:172800
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Decreased circulating ACTH concentratio...	ORPHA:199299
Premature Ovarian Failure 5	Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the ovary, Reduced antral fo...	OMIM:611548
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy...	ORPHA:91
Werner Syndrome	Premature graying of hair, White forelock, Hypogonadism, Neoplasm, Acral lentiginous melanoma, Pi...	ORPHA:902
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Dystrophic fingernails, Hyperconvex fingernails, Dystrophic toenail, Sparse eyelashes, Sparse eye...	ORPHA:1071
Stormorken Syndrome	Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Tafro Syndrome	Hepatomegaly, Increased circulating interleukin 6 concentration, Elevated circulating C-reactive ...	ORPHA:457077
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Abnormal female external genitalia morphology, Streak ovary, Abnormal vagina ...	ORPHA:168563
Naxos Disease	Abnormality of hair texture, Sparse scalp hair, Woolly hair, Curly hair	ORPHA:34217
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	High anterior hairline, Hypoplastic aortic arch, Webbed neck, Highly arched eyebrow, Slow-growing...	OMIM:617506
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Mulibrey Nanism	Cachexia, Hepatomegaly	ORPHA:2576
Oocyte/Zygote/Embryo Maturation Arrest 17	Amenorrhea, Female infertility	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Amenorrhea, Female infertility	OMIM:620383
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Increased variability in muscle fiber diameter	OMIM:617915
Whim Syndrome 1	Verrucae, Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia	OMIM:193670
Myofibromatosis, Infantile, 1	Fibroma, Myofibromatosis	OMIM:228550
Premature Ovarian Failure 6	Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ...	OMIM:612310
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Decreased circulating antibody level, Hepatic cysts, Lymphopenia	OMIM:617425
Palmoplantar Keratoderma, Epidermolytic, 2	Curly hair	OMIM:620411
Igg4-Related Kidney Disease	Decreased circulating complement C3 concentration, Abnormality of the anterior pituitary, Lymphad...	ORPHA:449395
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, A...	ORPHA:251380
Poems Syndrome	Leukonychia, Hepatomegaly, Increased circulating antibody level, Visceromegaly, Ascites, Pleural ...	ORPHA:2905
Nut Midline Carcinoma	Pancreatic squamous cell carcinoma, Squamous cell carcinoma, Oropharyngeal squamous cell carcinom...	ORPHA:443167
Autoinflammation With Episodic Fever And Lymphadenopathy	Lymphadenopathy, Microcytic anemia, Splenomegaly, Recurrent tonsillitis	OMIM:618852
Ovarian Dysgenesis 10	Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f...	OMIM:619834
Dermatoosteolysis, Kirghizian Type	Abnormality of the nail, Dystrophic fingernails, Dystrophic toenail	ORPHA:1657
Chondrodysplasia, Blomstrand Type	Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification	OMIM:215045
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hirsutism, Short stature, Hepatosplenomegaly, Splenomegaly, Primary amenorrhea, Dia...	OMIM:612526
Xeroderma Pigmentosum	Ectropion, Entropion, Pterygium, Conjunctival telangiectasia, Blepharitis, Keratitis, Telangiecta...	ORPHA:910
Ovarian Dysgenesis 9	Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci...	OMIM:619665
Insensitivity To Pain, Congenital, With Anhidrosis	Nail dysplasia, Nail dystrophy, Sparse scalp hair	OMIM:256800
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA le...	OMIM:618048
Cholestasis, Progressive Familial Intrahepatic, 5	Pleural effusion, Ascites, Hyperammonemia, Nonimmune hydrops fetalis, Elevated circulating alpha-...	OMIM:617049
Idiopathic Hypereosinophilic Syndrome	Anemia, Thrombocytosis, Portal fibrosis, Cholangitis, Pancreatitis, Myeloproliferative disorder, ...	ORPHA:3260
Congenital Toxoplasmosis	Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Elevated circulating hepatic transaminase concen...	ORPHA:858
Amelo-Onycho-Hypohidrotic Syndrome	Hyperkeratosis, Onycholysis, Abnormal fingernail morphology, Hypoplastic toenails, Fine hair	ORPHA:1028
Combined Oxidative Phosphorylation Deficiency 5	Edema, Hyperammonemia, Ascites	OMIM:611719
Incontinentia Pigmenti	Irregular hyperpigmentation, Hypopigmented skin patches, Hypoplastic fingernail, Spina bifida occ...	ORPHA:464
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive	Congenital absence of skin of limbs, Aplasia cutis congenita	OMIM:600360
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Bone marrow hypocellularity, Leukopenia, Monocytosis	OMIM:616871
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Nail dystrophy, Hyperpigmentation of the skin, Abnormal hair morphology	ORPHA:90154
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari...	OMIM:618849
Angiostrongyliasis	Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level...	ORPHA:74
Spermatogenic Failure 44	Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas...	OMIM:619044
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, Bone marrow hy...	OMIM:301078
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m...	ORPHA:90650
Iga Pemphigus	Eosinophilia, Increased circulating IgA level, Cutaneous abscess, Monoclonal elevation of circula...	ORPHA:555905
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy...	OMIM:617228
Hypohidrotic Ectodermal Dysplasia	Trichorrhexis nodosa, Breast aplasia, Slow-growing hair, Abnormal hair quantity, Abnormality of t...	ORPHA:238468
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 23 concentration, Hypochromic microcytic anemia, Reduced circulat...	OMIM:619632
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Coarse metaphyseal trabecularization, Sclerosis of mi...	ORPHA:85188
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Congenital Pulmonary Lymphangiectasia	Hydrops fetalis, Hepatomegaly, Chylopericardium, Pleural effusion, Ascites, Splenomegaly	ORPHA:2414
Charcot-Marie-Tooth Disease, Type 4B1	Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials	OMIM:601382
Barber-Say Syndrome	Dermal translucency, Premature skin wrinkling, Redundant skin, Hypoplastic nipples, Low-set ears,...	OMIM:209885
Pulmonary Blastoma	Pleuropulmonary blastoma, Weight loss	ORPHA:64741
Silver-Russell Syndrome 2	Short stature, Thin skin, Intrauterine growth retardation	OMIM:618905
Dysosteosclerosis	Increased bone mineral density, Coarse metaphyseal trabecularization, Recurrent fractures, Cranio...	ORPHA:1782
Drug-Induced Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90157
X-Linked Ehlers-Danlos Syndrome	Short stature, Thin skin	ORPHA:75497
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Polyhydramnios, Hepatomegaly, Hypocalcemia, Hypoproteinemia, Lymphedema, Ascites, Downslanted pal...	OMIM:235255
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Capi...	ORPHA:508533
Granulomatous Disease, Chronic, X-Linked	Recurrent Klebsiella infections, Recurrent E. coli infections, Hepatomegaly, Recurrent Staphyloco...	OMIM:306400
Complete Androgen Insensitivity Syndrome	Delayed puberty, Increased circulating antimullerian hormone concentration, Abnormal circulating ...	ORPHA:99429
Immunodeficiency 67	Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Transient neutropenia, ...	OMIM:607676
Arthrogryposis Multiplex Congenita 6	Increased variability in muscle fiber diameter, Arthrogryposis multiplex congenita, Nemaline bodies	OMIM:619334
Gracile Bone Dysplasia	Failure to thrive, Hypoplastic spleen, Asplenia	OMIM:602361
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio...	ORPHA:905
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Cachexia, Slender build, Weight loss	OMIM:613662
De Barsy Syndrome	Postnatal growth retardation, Hypoplastic aortic arch, Prominent veins on trunk, Short stature, T...	ORPHA:2962
Acth-Independent Macronodular Adrenal Hyperplasia	Decreased circulating ACTH concentration, Mental deterioration, Macronodular adrenal hyperplasia,...	OMIM:219080
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Ectropion, Recurrent otitis media, Corneal opacity, Synophrys, Long palpebral fissure, Downslante...	OMIM:602562
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Failure to thrive, Weight loss	OMIM:612075
Renpenning Syndrome	Cachexia, Decreased testicular size, Thin eyebrow, Diabetes mellitus, Abnormal hairshaft morpholo...	ORPHA:3242
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Lack of T cell fun...	ORPHA:35078
Ichthyosis, Congenital, Autosomal Recessive 2	Thin nail, Abnormal hair morphology, Small nail, Hyperkeratosis, Palmoplantar keratoderma, Alopecia	OMIM:242100
Recon Progeroid Syndrome	Anemia, Hyperconvex thumb nails, Hirsutism, Short stature, Thin skin, Growth delay, Thrombocytope...	OMIM:620370
Immunodeficiency 40	Eosinophilic granuloma, Thrombocytopenia, T lymphocytopenia	OMIM:616433
Spermatogenic Failure 38	Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m...	OMIM:618433
Uv-Sensitive Syndrome 1	Pigmentation anomalies of sun-exposed skin, Freckling	OMIM:600630
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Abnormality of nail color, High anterior hairline, Abnormal hair quantity, Abnormal fingernail mo...	ORPHA:3220
Alg8-Cdg	Optic atrophy, Anemia, Premature skin wrinkling, Low-set ears, Cutis laxa, Thrombocytopenia, Abno...	ORPHA:79325
Tularemia	Cervical lymphadenopathy, Anemia, Increased circulating antibody level, Mediastinal lymphadenopat...	ORPHA:3392
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased variability in muscle fiber diameter	OMIM:613752
Candidiasis, Familial, 1	Cutaneous anergy	OMIM:114580
Weaver Syndrome	Thin nail, Low-set, posteriorly rotated ears, Redundant skin, Deep-set nails, Macrotia, Abnormal ...	ORPHA:3447
Spermatogenic Failure 86	Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru...	OMIM:620499
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Lymphadenitis, Granuloma, Hepatosplenom...	OMIM:618935
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Craniolenticulosutural Dysplasia	Coarse hair, Sparse hair, Brittle hair	ORPHA:50814
Cortisone Reductase Deficiency 1	Infertility, Hirsutism, Precocious puberty, Oligomenorrhea, Obesity, Alopecia	OMIM:604931
Perrault Syndrome 6	Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas...	OMIM:617565
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Isolated Congenital Alacrima	Corneal erosion, Lacrimal gland hypoplasia, Distichiasis, Ptosis, Keratitis, Conjunctivitis, Lacr...	ORPHA:91416
Myopathic Ehlers-Danlos Syndrome	Ankle flexion contracture, Weakness of facial musculature, Foot joint contracture, Congenital mus...	ORPHA:536516
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Fetal Encasement Syndrome	Thin skin, Tetralogy of Fallot	OMIM:613630
Icf Syndrome	Recurrent respiratory infections, Decreased circulating antibody level, Abnormality of chromosome...	ORPHA:2268
Idiopathic Hypercalciuria	Osteopenia, Osteoporosis	ORPHA:2197
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Nail dystrophy, Decreased response to growth hormone stimulation test, Abnormality of the periung...	ORPHA:293978
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Brittle hair	OMIM:619184
Nicolaides-Baraitser Syndrome	Excessive wrinkled skin, Premature skin wrinkling, Periorbital wrinkles, Sparse scalp hair, Low p...	OMIM:601358
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hypoplastic fingernail, Synophrys, Increased nuchal translucency, Blepharitis, Recurrent aspirati...	ORPHA:280633
Premature Ovarian Failure 10	Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,...	OMIM:612885
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Hypospadias, Aortic root aneurysm, Short stature, Thin skin, Coarc...	OMIM:617602
Mcdonough Syndrome	Cachexia, Cryptorchidism, Synophrys	ORPHA:2471
Adams-Oliver Syndrome 5	Hypoplastic toenails, Dystrophic toenail, Absent toenail, Splenomegaly, Umbilical hernia, Hypersp...	OMIM:616028
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Leukocyt...	OMIM:243150
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Ciliary Dyskinesia, Primary, 14	Male infertility, Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motil...	OMIM:613807
Hereditary Acrokeratotic Poikiloderma	Irregular hyperpigmentation, Hypopigmented skin patches, Nail dystrophy, Dystrophic fingernails, ...	ORPHA:2907
Cutis Laxa, Autosomal Recessive, Type Iiib	Thin skin, Sparse hair, Intrauterine growth retardation, Fine hair, Cryptorchidism, Prominent sup...	OMIM:614438
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9	Leukopenia, Leukemia	OMIM:620400
Igg4-Related Ophthalmic Disease	Enlarged lacrimal glands, Abnormality of the anterior pituitary, Lymphadenopathy, Cholangitis, Pa...	ORPHA:449563
Lacrimoauriculodentodigital Syndrome	Recurrent corneal erosions, Corneal neovascularization, Abnormal lacrimal duct morphology, Hypopl...	ORPHA:2363
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Xanthelasma, Gastrointestinal inflammation, Hepatomegal...	ORPHA:186
Craniometaphyseal Dysplasia	Osteopetrosis, Craniofacial hyperostosis	ORPHA:1522
Ovarian Fibroma	Basal cell carcinoma, Odontogenic keratocysts of the jaw, Ovarian fibroma, Pleural effusion, Asci...	ORPHA:314473
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Nail dystrophy, Decreased response to growth hormone stimulation test, Absence of Stensen duct, F...	OMIM:604292
Ullrich Congenital Muscular Dystrophy 1A	Muscular dystrophy, Reduced muscle collagen VI, Torticollis, Facial palsy, Muscle fiber necrosis,...	OMIM:254090
Periventricular Nodular Heterotopia	Thin skin, Periventricular heterotopia, Patent ductus arteriosus, Aortic aneurysm	ORPHA:98892
Dengue Fever	Skin rash, Hypoproteinemia, Ascites, Hepatomegaly	ORPHA:99828
Moebius Syndrome	Blepharitis, Ptosis, Epicanthus, Corneal opacity	ORPHA:570
Short Syndrome	Thin skin, Ovarian cyst, Prominent superficial veins, Intrauterine growth retardation, Birth leng...	OMIM:269880
Loeffler Endocarditis	Eosinophilia, Weight loss	ORPHA:75566
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cirrhosis, Anemia, Macrovesicular hepatic steatosis, Cachexia, Hypergonadotropic hypogonadism, We...	ORPHA:298
Congenital Myopathy 4A, Autosomal Dominant	Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated skeletal muscle fibers, ...	OMIM:255310
Hypophosphatemic Rickets, X-Linked Recessive	Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteo...	OMIM:300554
Autoinflammatory Disease, Systemic, X-Linked	B lymphocytopenia, Complete or near-complete absence of specific antibody response to unconjugate...	OMIM:301081
Aquagenic Palmoplantar Keratoderma	Excessive skin wrinkling on dorsum of hands and fingers	ORPHA:498359
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Craniolenticulosutural Dysplasia	Optic atrophy, Brittle hair, Sparse hair, Cryptorchidism, Coarse hair	OMIM:607812
Autoimmune Polyendocrinopathy Type 4	Aplasia/Hypoplasia of the spleen, Central diabetes insipidus, Non-caseating epithelioid cell gran...	ORPHA:227990
Ovarian Hyperstimulation Syndrome	Ascites	OMIM:608115
Premature Ovarian Failure 18	Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second...	OMIM:619203
Cap Myopathy	Lower limb amyotrophy, Facial palsy, Increased variability in muscle fiber diameter, Generalized ...	ORPHA:171881
Infantile Myofibromatosis	Fibroma, Neoplasm of the pancreas, Abnormal hair morphology, Gingival fibromatosis, Neoplasm of t...	ORPHA:2591
Autosomal Recessive Spastic Paraplegia Type 46	Abnormal sperm head morphology, Infertility, Cognitive impairment, Decreased testicular size, Red...	ORPHA:320391
Fg Syndrome 3	Sensorineural hearing impairment, Cryptorchidism, Sparse hair, Frontal upsweep of hair, Fine hair	OMIM:300406
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Telecanthus, Abnormality of chromosome stability, Lymphoma, Low ant...	ORPHA:99812
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Nonimmune hydrops fetalis, Ascites, Oligohydramnios	OMIM:617021
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Anasarca, Minimal change glomerulonephritis, Hyperlipidemia, Ascites, Pleural ef...	ORPHA:567546
Tumoral Calcinosis, Normophosphatemic, Familial	Conjunctivitis	OMIM:610455
Classical-Like Ehlers-Danlos Syndrome Type 1	Thin skin, Stroke, Adrenal hypoplasia, Precocious atherosclerosis	ORPHA:230839
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Abnormal fingernail morphology, Weight loss	ORPHA:1164
Adult Syndrome	Breast hypoplasia, Skin ulcer, Toenail dysplasia, Abnormality of the nail, Hypoplastic nipples, S...	ORPHA:978
Progressive Osseous Heteroplasia	Abnormality of the parathyroid gland, Sarcoma	ORPHA:2762
Igg4-Related Pachymeningitis	Pancreatitis, Parotitis, Lymphadenitis, Reduced circulating complement concentration, Increased c...	ORPHA:449427
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Polyhydramnios, Hepatomegaly, Ascites, Nonimmune hydrops fetalis, Hepatosplenomegaly, Hypoalbumin...	ORPHA:367
Absence Of Fingerprints-Congenital Milia Syndrome	Thin skin, Milia	ORPHA:1658
Trichothiodystrophy 8, Nonphotosensitive	Trichorrhexis nodosa, Woolly hair, Cutis laxa, Sparse eyebrow, Sparse hair, Protruding ear	OMIM:619691
Hereditary Mucoepithelial Dysplasia	Hyperkeratosis, Fine hair, Sparse hair, Alopecia	ORPHA:1839
Mosaic Variegated Aneuploidy Syndrome 4	Abnormality of chromosome stability	OMIM:620153
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Nail dysplasia, Telecanthus, Xerostomia, Hypoplastic nipples, Sparse scalp hair, Sparse eyelashes...	OMIM:129900
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Reduced natural killer cell count, T lymphocytopenia	OMIM:242860
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Increased variability in muscle fiber diameter, Myopathy	OMIM:125250
Asplenia, Isolated Congenital	Howell-Jolly bodies, Thrombocytosis, Asplenia	OMIM:271400
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia	OMIM:207731
Amyotrophic Lateral Sclerosis 21	Distal lower limb muscle weakness, Rimmed vacuoles, Hand muscle weakness, Increased variability i...	OMIM:606070
Mandibuloacral Dysplasia	Postnatal growth retardation, Hyperinsulinemia, Hypoplastic fingernail, Thin skin, Sparse hair, I...	ORPHA:2457
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Cutaneous abscess, Decreased circulating IgG level, Lymphopenia,...	OMIM:619752
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Thin bony ...	OMIM:600081
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Lymphoma, Bone marrow hypo...	ORPHA:47612
Boutonneuse Fever	Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Th...	ORPHA:83313
Autoimmune Polyendocrinopathy Type 3	Aplasia/Hypoplasia of the spleen, Central diabetes insipidus, Non-caseating epithelioid cell gran...	ORPHA:227982
Intrahepatic Cholestasis Of Pregnancy	Increased serum bile acid concentration, Hyperbilirubinemia, Ascites, Abnormal circulating interl...	ORPHA:69665
Immunodeficiency 114, Folate-Responsive	Hepatomegaly, Megaloblastic anemia, Increased circulating IgE level, Decreased circulating IgG le...	OMIM:620603
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Amaurosis-Hypertrichosis Syndrome	Optic atrophy, Abnormal eyelash morphology, Synophrys, Thick eyebrow, Coarse hair	ORPHA:1021
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Osteopetrosis, Autosomal Recessive 1	Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Increased bone mineral density, Patholog...	OMIM:259700
Beemer-Ertbruggen Syndrome	Increased bone mineral density	ORPHA:1237
Cog7-Cdg	Jaundice, Hepatosplenomegaly, Excessive wrinkled skin	ORPHA:79333
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Decreased circulating antibody lev...	OMIM:300635
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Decreased ...	OMIM:619705
Leukocyte Adhesion Deficiency, Type Iii	Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Extramedu...	OMIM:612840
Arthrochalasia Ehlers-Danlos Syndrome	Thin skin, Severe short stature	ORPHA:1899
Functioning Gonadotropic Adenoma	Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h...	ORPHA:91348
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Recurrent urinary tract infections, Acute pancreatitis, Chilblains, Ascites, Perica...	OMIM:619487
Ciliary Dyskinesia, Primary, 51	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:620438
Agel Amyloidosis	Nail dystrophy, Abnormal spleen morphology, Sparse hair	ORPHA:85448
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Increased bone mineral density, Thin bony cortex, Osteopenia	ORPHA:85184
Hypothyroidism, Congenital, Nongoitrous, 1	Elevated circulating thyroid-stimulating hormone concentration, Goiter, Hypothyroidism, Thyroid h...	OMIM:275200
Tempi Syndrome	Increased circulating IgG level, Transudative pleural effusion, Hemangioma, Ascites	ORPHA:284227
Osteogenesis Imperfecta, Type Xviii	Generalized osteoporosis, Joint hypermobility, Recurrent fractures, Thin bony cortex	OMIM:617952
Epithelial Recurrent Erosion Dystrophy	Recurrent corneal erosions, Corneal dystrophy, Subepithelial corneal opacities, Corneal scarring,...	ORPHA:293381
Limb-Mammary Syndrome	Nail dysplasia, Chronic irritative conjunctivitis, Breast aplasia, Lacrimal duct atresia, Hypopla...	ORPHA:69085
Perrault Syndrome 3	Hypergonadotropic hypogonadism, Short stature, Elevated circulating follicle stimulating hormone ...	OMIM:614129
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy, Weight loss	ORPHA:42642
Bone Marrow Failure Syndrome 4	Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocytopenia, Leuk...	OMIM:618116
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Sparse facial hair, Sensorineural hearing impairment, Sparse axillary hair, Progeroid facial appe...	OMIM:608154
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Fine hair, High-frequency sensorineural hearing impairment, Low-set ears, Sparse scalp hair	ORPHA:2324
Albinism-Deafness Syndrome	Piebald skin depigmentation, Albinism, Patchy hypo- and hyperpigmentation, Ocular albinism	OMIM:300700
Systemic Lupus Erythematosus 17	Decreased circulating complement C3 concentration, Thrombocytopenia, Leukopenia, Lymphopenia, Aut...	OMIM:301080
Argininosuccinic Aciduria	Trichorrhexis nodosa, Dry hair, Brittle hair	OMIM:207900
Lmna-Related Cardiocutaneous Progeria Syndrome	Premature graying of hair, Premature skin wrinkling, Absent eyelashes, Absent eyebrow, Pulmonary ...	ORPHA:363618
Premature Ovarian Failure 13	Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen...	OMIM:617442
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Polyhydramnios, Hepatomegaly, Hypocalcemia, Hypoproteinemia, Ascites, Downslanted palpebral fissu...	ORPHA:1655
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Increased proportion of CD4-positive T cells, Increased circulating IgA level, L...	OMIM:617099
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Recurrent urinary tract infections, Men...	OMIM:307200
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
46,Xy Sex Reversal 11	Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Vanishing testis, G...	OMIM:273250
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Severe cytomegalovirus infection, Sepsis, Hepatomegaly, Hypokalemia, Persis...	OMIM:619573
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Atrophic scars, Distichiasis, Sparse lateral eyebrow, Low anterior hairline, Sp...	ORPHA:79133
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter	OMIM:614096
21Q22.11Q22.12 Microdeletion Syndrome	Nail dystrophy, Periorbital hyperpigmentation, Anemia, Small nail, Hypoplastic nipples, Thrombocy...	ORPHA:261323
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Adult Idiopathic Neutropenia	Increased circulating IgM level, Lymphopenia, Monocytopenia, Monocytosis, Neutropenia	ORPHA:2688
Lymphatic Filariasis	Lymphangiectasis, Lymphadenopathy, Circulating immune complexes, Abnormality of the lymphatic sys...	ORPHA:2035
Glycosylphosphatidylinositol Biosynthesis Defect 25	Coarse hair, Sparse hair	OMIM:619985
Classic Galactosemia	Sepsis, Hepatomegaly, Ascites	ORPHA:79239
Coccidioidomycosis	Mediastinal lymphadenopathy, Lymphadenopathy, Pancreatitis, Abnormality of the endocrine system, ...	ORPHA:228123
Cardiomyopathy, Familial Restrictive, 6	Hydrops fetalis, Ascites, Hepatomegaly	OMIM:619433
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic...	OMIM:619375
Flynn-Aird Syndrome	Cachexia, Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality of the thyroid gl...	ORPHA:2047
Immunodeficiency 92	Hepatomegaly, Abnormal B cell proliferation, Cholangitis, Sclerosing cholangitis, Decreased propo...	OMIM:619652
H Syndrome	Delayed puberty, Lymphadenopathy, Azoospermia, Decreased testicular size, Short stature, Abnormal...	ORPHA:168569
Gaucher Disease Type 1	Decreased HDL cholesterol concentration, Pinguecula, Hepatomegaly, Increased circulating antibody...	ORPHA:77259
Specific Granule Deficiency 1	Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida...	OMIM:245480
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va...	OMIM:617765
Marshall-Smith Syndrome	Brittle hair, Highly arched eyebrow, Optic nerve hypoplasia, Bilateral conductive hearing impairm...	OMIM:602535
Down Syndrome	Keratoconus, Blepharitis, Epicanthus, Cataract, Upslanted palpebral fissure	ORPHA:870
Otopalatodigital Syndrome, Type I	Nail dysplasia, Nail dystrophy	OMIM:311300
Osteopetrosis, Autosomal Recessive 2	Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis, Recurrent fractures, Decreased osteocl...	OMIM:259710
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G...	OMIM:233420
Heme Oxygenase 1 Deficiency	Hepatomegaly, Increased circulating interleukin 6 concentration, Lymphadenopathy, Asplenia, Coomb...	OMIM:614034
Familial Hyperprolactinemia	Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea	ORPHA:397685
Isolated Congenital Hypoglossia/Aglossia	Hamartoma, Weight loss	ORPHA:141152
Malignant Peritoneal Mesothelioma	Pedal edema, Ascites, Peritonitis, Neoplasm	ORPHA:168811
Congenital Generalized Lipodystrophy	Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Precocious puberty in females, Hyperinsulinemia, L...	ORPHA:528
Albers-Schönberg Osteopetrosis	Arthritis, Recurrent fractures, Osteoarthritis, Generalized osteosclerosis, Mandibular osteomyeli...	ORPHA:53
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Aplastic/hypoplastic toenail, Hypoplasia of penis, Hypothyroidism, Thin skin, Aplasia/Hypoplasia ...	ORPHA:1812
Alopecia Universalis	Abnormality of the nail, Absent eyelashes, Patchy alopecia, Absent eyebrow, Vitiligo, Alopecia un...	ORPHA:701
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Abnormality of chromosome stability	OMIM:600546
Hennekam Syndrome	Hydrops fetalis, Hypocalcemia, Chylothorax, Decreased circulating antibody level, Lymphedema, Asc...	ORPHA:2136
Griscelli Syndrome Type 2	Premature graying of hair, Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Hypopigment...	ORPHA:79477
Warburg-Cinotti Syndrome	Corneal neovascularization, Limbal stem cell deficiency, Decreased corneal thickness, Epicanthus,...	OMIM:618175
Hemochromatosis, Type 3	Cirrhosis, Anemia, Elevated circulating hepatic transaminase concentration, Impotence, Lymphopeni...	OMIM:604250
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormal auditory evoked potentials, Low posterior hairline, Long eyelashes, Abnormality of visua...	OMIM:617523
Christianson Syndrome	Cachexia, Thick eyebrow	ORPHA:85278
Orofaciodigital Syndrome Type 1	Chronic otitis media, Brittle hair, Dry skin, Hearing impairment, Sparse hair, Pancreatic cysts, ...	ORPHA:2750
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex	OMIM:619638
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Sarcoma, Synovial	Synovial sarcoma	OMIM:300813
Alveolar Soft Part Sarcoma	Alveolar soft part sarcoma	OMIM:606243
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Nail dystrophy, Alopecia of scalp, Hypoplasia of the thymus, Absent ...	ORPHA:436252
Whipple Disease	Hepatomegaly, Anemia, Mediastinal lymphadenopathy, Cachexia, Hypothyroidism, Splenomegaly	ORPHA:3452
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hepatomegaly, Anemia, Cholangitis, Rhizomelia, Cholestasis, Sparse scalp hair, Hepatic fibrosis, ...	OMIM:266920
Simpson-Golabi-Behmel Syndrome, Type 1	Polysplenia, Short nail, Splenomegaly, Umbilical hernia, Cryptorchidism, Supernumerary nipple, Hy...	OMIM:312870
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	B lymphocytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Decreas...	OMIM:614069
Immunodeficiency, Common Variable, 13	B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level, Pancytopenia	OMIM:616873
Premature Ovarian Failure 8	Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm...	OMIM:615723
Lead Poisoning	Abnormal T cell morphology, Delayed puberty, Anemia, Decreased male libido, Decreased female libi...	ORPHA:330015
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Progeroid facial appearance, Infertility, Delayed menarche, Hypothyroidism, Oligomenorrhea, Heari...	ORPHA:412057
Pearson Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Anemia, Hypoparathyroidism, ...	ORPHA:699
Reynolds Syndrome	Hepatomegaly, Arthritis, Skin rash, Xerostomia, Ascites, Infectious encephalitis, Keratoconjuncti...	ORPHA:779
Lenz-Majewski Hyperostotic Dwarfism	Hypospadias, Anterior pituitary hypoplasia, Prominent scalp veins, Short stature, Thin skin, Chor...	OMIM:151050
Rothmund-Thomson Syndrome, Type 2	Premature graying of hair, Nail dystrophy, Annular pancreas, Absent eyelashes, Sparse scalp hair,...	OMIM:268400
Osteogenesis Imperfecta, Type Xiii	Reduced bone mineral density, Limitation of knee mobility, Increased bone mineral density, Osteop...	OMIM:614856
Fg Syndrome Type 1	Small pituitary gland, Sensorineural hearing impairment, Optic nerve hypoplasia, Microtia, Facial...	ORPHA:93932
Indolent Systemic Mastocytosis	Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytosis, Splenomegaly, Abnormal m...	ORPHA:98848
Chronic Beryllium Disease	Abnormal proportion of CD4-positive T cells, Mediastinal lymphadenopathy, Weight loss	ORPHA:133
Niemann-Pick Disease, Type A	Splenomegaly, Recurrent respiratory infections, Hepatomegaly, Ascites	OMIM:257200
Polycystic Ovary Syndrome 1	Hirsutism, Enlarged polycystic ovaries, Oligomenorrhea, Obesity, Amenorrhea	OMIM:184700
Bloom Syndrome	Neoplasm of the skin, Malignant genitourinary tract tumor, Neoplasm, Acute myeloid leukemia, Recu...	ORPHA:125
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Abnormal subcutaneous fat tissue distribution, Redundant neck skin, Excessive wrinkled skin, Thic...	ORPHA:357074
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, De...	OMIM:617780
Diastrophic Dysplasia	Joint stiffness, Joint hypermobility, Camptodactyly of finger, Increased bone mineral density	ORPHA:628
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ...	OMIM:608203
Disabling Pansclerotic Morphea Of Childhood	Neutropenia, Lymphopenia	OMIM:620443
Autosomal Recessive Cutis Laxa Type 2A	Hearing impairment, Excessive wrinkled skin, Thick hair, Progeroid facial appearance	ORPHA:357058
Oculocerebral Hypopigmentation Syndrome, Cross Type	Anemia, Hypopigmentation of hair, Short stature, Thin skin, Growth delay, Cryptorchidism	ORPHA:2719
Weismann-Netter Syndrome	Abnormal cortical bone morphology	ORPHA:3344
Necrotizing Enterocolitis	Neonatal sepsis, Ascites, Hyponatremia, Peritonitis, Edema	ORPHA:391673
Riboflavin Transporter Deficiency	Cachexia, Hypogonadism, Diabetes insipidus	ORPHA:97229
45,X/46,Xy Mixed Gonadal Dysgenesis	Nail dysplasia, Ambiguous genitalia, male, Delayed puberty, Bifid scrotum, Low posterior hairline...	ORPHA:1772
Spondyloepiphyseal Dysplasia Tarda	Limited elbow movement, Localized osteoporosis, Stiff knee, Hip osteoarthritis, Increased bone mi...	ORPHA:93284
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recur...	OMIM:241530
Kaufman Oculocerebrofacial Syndrome	Clitoral hypertrophy, Preauricular skin tag, Short stature, Thin skin, Coarctation of aorta, Spar...	OMIM:244450
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Abnormality of skeletal muscle fiber size, Nemaline bodies, Joint contracture, Skeletal muscle at...	OMIM:620278
Familial Atrial Myxoma	Bacterial endocarditis, Cardiac myxoma, Ascites, Pedal edema	ORPHA:615
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6	Vitiligo	OMIM:193200
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Periorbital wrinkles, Absent eyelashes, Hypoplastic nipples, Ectodermal dysplasia, Absent nipple,...	OMIM:614941
Alexander Disease Type I	Cachexia, Failure to thrive	ORPHA:363717
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Osteopetrosis	OMIM:617306
Non-Functioning Pituitary Adenoma	Erectile dysfunction, Anemia of inadequate production, Impotence, Female hypogonadism, Hypogonadi...	ORPHA:91349
Spinocerebellar Ataxia 48	Cachexia	OMIM:618093
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Bilateral ptosis, Corneal neovascularization, Corneal scarring, Lagophthalmos, Recurrent respirat...	ORPHA:404454
Riddle Syndrome	Chromosomal breakage induced by ionizing radiation, Arthritis, Conjunctival telangiectasia, Decre...	ORPHA:420741
Progeria-Short Stature-Pigmented Nevi Syndrome	Delayed puberty, Progeroid facial appearance, Premature ovarian insufficiency, Neoplasm of the pa...	ORPHA:2959
Fanconi Anemia, Complementation Group V	Elevated circulating alpha-fetoprotein concentration, Chromosomal breakage induced by crosslinkin...	OMIM:617243
Pediatric Systemic Lupus Erythematosus	Malar rash, Arthritis, Skin rash, Discoid lupus rash, Myositis, Ascites, Pleural effusion, Perica...	ORPHA:93552
Craniofrontonasal Dysplasia	Sensorineural hearing impairment, Abnormality of hair texture, Woolly hair, Low posterior hairlin...	ORPHA:1520
Nestor-Guillermo Progeria Syndrome	Nail dystrophy, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Spotty hyperpigmentation, Al...	OMIM:614008
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Atypical scarring of skin, Striae distensae, Thin skin	OMIM:225310
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res...	OMIM:301106
Premature Ovarian Failure 21	Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho...	OMIM:620311
Myoclonus, Intractable, Neonatal	Increased variability in muscle fiber diameter	OMIM:617235
Giant Axonal Neuropathy	Facial palsy, Abnormal pituitary gland morphology, Pili canaliculi, Woolly hair	ORPHA:643
Adult Syndrome	Breast hypoplasia, Alopecia of scalp, Hypoplastic nipples, Sparse scalp hair, Absent nipple, Thin...	OMIM:103285
22Q11.2 Deletion Syndrome	Chronic otitis media, Gastrointestinal hemorrhage, Corneal neovascularization, Telecanthus, Sebor...	ORPHA:567
Pituicytoma	Central diabetes insipidus, Decreased response to growth hormone stimulation test, Memory impairm...	ORPHA:251623
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Abnormal bone ossification, Delayed patellar ossification	ORPHA:163649
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	Vitiligo	OMIM:606579
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Hyperkeratosis, Hypopigmentation of the skin, Iris hypopigmentation, Al...	ORPHA:79431
Premature Ovarian Failure 20	Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulati...	OMIM:619938
Spermatogenic Failure 85	Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi...	OMIM:620490
Premature Aging Syndrome, Penttinen Type	Elevated circulating thyroid-stimulating hormone concentration, Skin nodule, Thin skin, Failure t...	OMIM:601812
Focal Dermal Hypoplasia	Abnormality of the nail, Aplasia/Hypoplasia of the skin, Cognitive impairment, Skin nodule, Macul...	ORPHA:2092
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Abnormal circulating hormone concentration, Infertility, Oligomenorrhea, Hepati...	ORPHA:280356
Nijmegen Breakage Syndrome	Acute leukemia, Rhabdomyosarcoma, T-cell lymphoma, Abnormal hair morphology, Abnormal hair quanti...	ORPHA:647
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly	OMIM:611762
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Nail dysplasia, Aplasia/Hypoplasia of the eyebrow, Hydrops fetalis, Ascites, Epicanthus, Sparse h...	OMIM:614091
Acrokeratosis Verruciformis	Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Acantholysis, Ridged nail	OMIM:101900
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Cryptorchidism, Leukope...	OMIM:612541
Onychotrichodysplasia And Neutropenia	Trichorrhexis nodosa, Hypoplastic fingernail, Curly eyelashes, Lymphocytosis, Chronic neutropenia...	OMIM:258360
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Neoplasm of the thyroid gland, Arteriovenous malformation, Ovarian neoplasm, Venous insufficiency...	ORPHA:137608
Premature Ovarian Failure 9	Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati...	OMIM:615724
Thymic Neuroendocrine Tumor	Neoplasm of the endocrine system, Mediastinal lymphadenopathy, Abnormal vena cava morphology, Pro...	ORPHA:97289
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia	ORPHA:3204
Post-Traumatic Pituitary Deficiency	Abnormality of secondary sexual hair, Delayed puberty, Central diabetes insipidus, Decreased resp...	ORPHA:95619
Lymphatic Malformation 7	Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc...	OMIM:617300
X-Linked Intellectual Disability, Nascimento Type	Nail dystrophy, Lumbar hypertrichosis, Low posterior hairline, Synophrys, Generalized hirsutism, ...	ORPHA:163956
Selective Igm Deficiency	Thyroid carcinoma, Decreased circulating total IgM, Decreased proportion of CD8-positive T cells,...	ORPHA:331235
Tricho-Dento-Osseous Syndrome	Increased bone mineral density	ORPHA:3352
Thymoma	Aplastic anemia, Neoplasm of the thyroid gland, Prostate neoplasm, Neoplasm of the gastrointestin...	ORPHA:99867
Marshall-Smith Syndrome	Thin skin, Failure to thrive, Generalized hirsutism	ORPHA:561
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Polyhydramnios, Hydrops fetalis, Telecanthus, Pleural effusion, Ascites	OMIM:616897
Progressive Multifocal Leukoencephalopathy	Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells	ORPHA:217260
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased proportion of CD3-positive T cells, Verrucae, Failure to thrive, Decreased circulating ...	ORPHA:275
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Adams-Oliver Syndrome	Cirrhosis, Arteriovenous malformation, Hypoplastic fingernail, Aplastic/hypoplastic toenail, Pulm...	ORPHA:974
Mucolipidosis Ii Alpha/Beta	Recurrent otitis media, Brittle hair, Sparse eyebrow, Splenomegaly, Sparse hair	OMIM:252500
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Premature graying of hair, Abnormal hair morphology, Cachexia, Weight loss, Type I diabetes mellitus	ORPHA:1979
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Increased variability in muscle fiber diameter, Muscle fiber atrophy, Ge...	OMIM:616866
Rodrigues Blindness	Protruding ear, Fine hair, Ectodermal dysplasia, Sparse hair	OMIM:268320
Neuraminidase Deficiency	Hydrops fetalis, Hepatomegaly, Ascites, Splenomegaly, Facial edema	OMIM:256550
Macrocephaly/Autism Syndrome	Large for gestational age, Hepatomegaly, Decreased circulating antibody level, Obesity, Splenomeg...	OMIM:605309
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Weakness of facial musculature, Inflammatory myopathy, Elbow flexion c...	ORPHA:1145
Osteopetrosis, Autosomal Recessive 8	Osteopetrosis	OMIM:615085
Short Syndrome	Excessive wrinkled skin, Sensorineural hearing impairment, Sparse hair, Diabetes mellitus, Alopecia	ORPHA:3163
Typical Nemaline Myopathy	Facial diplegia, Facial palsy, Nemaline bodies, Arthrogryposis multiplex congenita, Limb-girdle m...	ORPHA:171436
Gapo Syndrome	Optic atrophy, Prematurely aged appearance, Oligozoospermia, Low-set ears, Sparse eyelashes, Hear...	ORPHA:2067
Autosomal Recessive Hypophosphatemic Rickets	Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de...	ORPHA:289176
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Abnormal hair morphology, Slow-growing hair, Aplasia/Hypoplasia of the earlobes, Abnormal antihel...	ORPHA:3082
Cholestasis, Progressive Familial Intrahepatic, 3	Splenomegaly, Ascites, Hepatomegaly, Increased serum bile acid concentration	OMIM:602347
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Delayed puberty, Elevated circulating hepatic transaminase concentrati...	ORPHA:99413
Mosaic Monosomy X	Cholestatic liver disease, Delayed puberty, Elevated circulating hepatic transaminase concentrati...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Delayed puberty, Elevated circulating hepatic transaminase concentrati...	ORPHA:99226
Turner Syndrome	Cholestatic liver disease, Delayed puberty, Elevated circulating hepatic transaminase concentrati...	ORPHA:881
Lipodystrophy, Familial Partial, Type 3	Cirrhosis, Hyperinsulinemia, Maternal diabetes, Hirsutism, Oligomenorrhea, Type II diabetes melli...	OMIM:604367
Cutis Laxa, Autosomal Dominant 3	Premature skin wrinkling, Low-set ears, Cutis laxa, Protruding ear, Dermal translucency	OMIM:616603
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hepatomegaly, Increased circulating Interferon-alpha concentration, Chilblains	OMIM:615010
Ciliary Dyskinesia, Primary, 37	Hypothyroidism, Goiter, Right aortic arch, Female infertility	OMIM:617577
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Diaphyseal cortical sclerosis, Osteopenia, Fractures of the long bones, Patchy osteosclerosis, Os...	OMIM:112250
Mandibuloacral Dysplasia With Type A Lipodystrophy	Breast aplasia, Absent eyelashes, Short stature, Thin skin, Abnormal eyebrow morphology, Dermal a...	ORPHA:90153
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ...	ORPHA:90793
Common Variable Immunodeficiency	Lymphadenopathy, Decreased circulating antibody level, Lymphoma, Gastrointestinal stroma tumor, S...	ORPHA:1572
Nasolacrimal Duct Cyst	Chronic irritative conjunctivitis, Recurrent infections, Abnormal lacrimal sac morphology, Ectrop...	ORPHA:141083
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Thin skin, Atrophic scars	OMIM:225320
Ring Chromosome 12 Syndrome	Breast hypoplasia, Hirsutism, Dystrophic toenail, Cryptorchidism	ORPHA:1439
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Decreased circulating antibody level, Leukocytosis	OMIM:618042
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Muscle fiber necrosis, Incr...	OMIM:258450
Bazex-Dupre-Christol Syndrome	Trichorrhexis nodosa, Trichoepithelioma, Hyperpigmentation of the skin, Sparse hair, Pili torti, ...	OMIM:301845
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrh...	OMIM:618841
Fontaine Progeroid Syndrome	Dermal translucency, Premature skin wrinkling, Small nail, Prematurely aged appearance, Redundant...	OMIM:612289
Tetrasomy 12P	Cachexia, Sparse eyebrow, Sparse hair	ORPHA:884
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Hypoplastic spleen, Polysplenia	OMIM:620642
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Cachexia, Failure to thrive in infancy	OMIM:616801
Lymphatic Malformation 6	Polyhydramnios, Chylothorax, Genital edema, Lymphedema, Pleural effusion, Ascites, Generalized ed...	OMIM:616843
Immunodeficiency, Common Variable, 6	Autoimmune thrombocytopenia, Abnormal T cell count, Abnormal B cell count	OMIM:613496
Leydig Cell Hypoplasia	Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi...	ORPHA:755
Tangier Disease	Nail dystrophy, Anemia, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Thrombocytopenia	ORPHA:31150
Werner Syndrome	Alopecia of scalp, Prematurely aged appearance, Elevated hemoglobin A1c, Hypogonadism, Subcutaneo...	OMIM:277700
Leopard Syndrome 2	Low-set ears, Dry skin, Curly hair	OMIM:611554
Immunodeficiency 47	Decreased circulating total IgG, Normocytic anemia, Cirrhosis, Hepatomegaly, Accessory spleen, Ch...	OMIM:300972
Distal Duplication 6P	Aplasia/Hypoplasia of the earlobes, Abnormal hair quantity, Abnormal eyelash morphology, Low-set ...	ORPHA:1745
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Delayed puberty, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Elevat...	ORPHA:264580
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Short stature, Failure to thrive, Female infertility, Mitochondr...	OMIM:619518
Pseudomyxoma Peritonei	Inflammation of the large intestine, Ascites	ORPHA:26790
Lysosomal Acid Lipase Deficiency	Jaundice, Anemia, Vacuolated lymphocytes, Bone-marrow foam cells, Cachexia, Microvesicular hepati...	ORPHA:275761
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Delayed puberty, Sensorineural hearing impairment, Hypothyroidism, Hearing impairment, Macrotia, ...	OMIM:616817
Mucopolysaccharidosis Type 7	Hydrops fetalis, Lymphedema, Ascites, Splenomegaly, Recurrent respiratory infections, Hepatitis	ORPHA:584
Klippel-Trénaunay Syndrome	Hydrops fetalis, Hepatomegaly, Ascites, Hemangioma, Edema	ORPHA:90308
Immunodeficiency 61	Decreased circulating IgG4 level, Decreased circulating total IgM, Obesity, Decreased circulating...	OMIM:300310
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Aortic root aneurysm, Short attention span, Hypothyroidism, Thin skin, Hyperthyroidism, Attention...	ORPHA:449291
Opitz-Kaveggia Syndrome	Sensorineural hearing impairment, Facial wrinkling, Cryptorchidism, Microtia, first degree, Spars...	OMIM:305450
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina...	OMIM:277000
Ablepharon-Macrostomia Syndrome	Hypoplastic fingernail, Premature skin wrinkling, Absent eyelashes, Hypoplastic nipples, Microtia...	OMIM:200110
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Sparse hair	ORPHA:1264
Familial Pancreatic Carcinoma	Jaundice, Pancreatic adenocarcinoma, Lymphadenopathy, Peritoneal abscess, Melanoma, Colon cancer,...	ORPHA:1333
Neurotrophic Keratopathy	Recurrent corneal erosions, Astigmatism, Corneal ulceration, Corneal stromal edema, Corneal scarr...	ORPHA:137596
Fraxf Syndrome	Folate-dependent fragile site at Xq28	ORPHA:100974
Optic Atrophy 8	Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,...	OMIM:616648
Fanconi Anemia, Complementation Group D1	T-cell acute lymphoblastic leukemias, Acute myeloid leukemia, Chromosomal breakage induced by cro...	OMIM:605724
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Failure to thrive, Neutrophilia, Hepatosplenomeg...	OMIM:619644
Pseudohypoparathyroidism Type 1B	Increased bone mineral density, Increased bone density with cystic changes, Diaphyseal sclerosis	ORPHA:94089
Liposarcoma	Sarcoma, Weight loss	ORPHA:69078
Ectodermal Dysplasia-Blindness Syndrome	Hyperkeratosis, Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse hair, Fi...	ORPHA:1806
Sulfite Oxidase Deficiency, Isolated	Multifocal epileptiform discharges, Macrotia, Fine hair	OMIM:272300
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic root aneurysm, Atrophic scars, Short stature, Thin skin, Thick eyebrow	ORPHA:230851
Stuve-Wiedemann Syndrome 1	Premature skin wrinkling, Low-set ears, Abnormal autonomic nervous system physiology, Sparse hair	OMIM:601559
Osteogenesis Imperfecta, Type Ii	Thin skin, Small for gestational age, Disproportionate short-limb short stature	OMIM:166210
Eosinophilic Granulomatosis With Polyangiitis	Eosinophilia, Weight loss	ORPHA:183
Meier-Gorlin Syndrome 1	Breast hypoplasia, Clitoral hypertrophy, Hypoplastic labia minora, Birth length less than 3rd per...	OMIM:224690
Trichotillomania	Alopecia	OMIM:613229
Lowry-Wood Syndrome	Abnormality of nail color, Abnormality of retinal pigmentation	ORPHA:1824
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Generalized reticulate brown pigmentation, Generalized hypopigmentation, Spotty hyperpigmentation...	ORPHA:158681
Hyper-Igd Syndrome	Lymphadenopathy, Increased circulating IgA level, Leukocytosis, Lymphadenitis, Increased circulat...	OMIM:260920
Nephroblastoma	Lymphadenopathy, Neoplasm of the lung, Weight loss, Neoplasm, Nephroblastoma, Neoplasm of the liver	ORPHA:654
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Nail dysplasia, Nail dystrophy, Dystrophic fingernails, Follicular hyperkeratosis, Periungual ery...	OMIM:308205
Large Congenital Melanocytic Nevus	Hypopigmented skin patches, Abnormality of skin pigmentation, Generalized hirsutism, Congenital g...	ORPHA:626
Fumarase Deficiency	Decreased fumarate hydratase activity, Polyhydramnios, Conjunctival icterus, Hyperbilirubinemia, ...	OMIM:606812
Dent Disease 1	Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Recurrent fractur...	OMIM:300009
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Low-set ears, Patchy alopecia, Hypothyroidism, Hearing impairment, Posteriorly rotated ears, Spar...	OMIM:617763
Oculocutaneous Albinism Type 4	Hypopigmentation of hair, Hypopigmentation of the skin, White hair, Iris hypopigmentation, Abnorm...	ORPHA:79435
Microsporidiosis	Adrenocortical abnormality, Pancreatitis, Cholangitis, Cachexia, Thyroiditis, Lymphadenitis, Bili...	ORPHA:2552
Reactive Arthritis	Abnormality of the nail, Dystrophic fingernails, Hyperkeratosis	ORPHA:29207
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Abnormal hair quantity, Decreased circulating antibody level, Lymphopenia	ORPHA:1116
Netherton Syndrome	Trichorrhexis nodosa, Abnormal hair morphology, Sparse scalp hair, Dry skin, Sparse eyelashes, Ur...	ORPHA:634
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Rimmed vacuoles, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Ge...	ORPHA:52430
Acrofacial Dysostosis Syndrome Of Rodriguez	Deep-set nails, Thin skin, Short stature	OMIM:201170
Mucopolysaccharidosis, Type Iiib	Hirsutism, Synophrys, Hearing impairment, Splenomegaly, Coarse hair	OMIM:252920
Xfe Progeroid Syndrome	Hypoalbuminemia, Ascites, Defective DNA repair after ultraviolet radiation damage	OMIM:610965
Acute Promyelocytic Leukemia	Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Weight loss, N...	ORPHA:520
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal neck blood vessel morphology, Abnormal lymph node morphology, Papillary thyroid carcinom...	ORPHA:319487
Leopard Syndrome 3	Sensorineural hearing impairment, Low-set ears, Dry skin, Low posterior hairline, Curly hair, Pos...	OMIM:613707
Venous Malformations, Multiple Cutaneous And Mucosal	Venous malformation	OMIM:600195
Good Syndrome	Mediastinal lymphadenopathy, Anemia, Abnormal leukocyte morphology, Decreased circulating antibod...	ORPHA:169105
Porokeratosis Of Mibelli	Aplasia/Hypoplasia of the skin	ORPHA:735
Pneumocystosis	Increased circulating antibody level, Abnormal neutrophil count, Weight loss, Neoplasm	ORPHA:723
Refractory Celiac Disease	Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Lymphoma, Increased proportion of H...	ORPHA:398063
Spondylodysplastic Ehlers-Danlos Syndrome	Numerous nevi, Ascending tubular aorta aneurysm, Atrophic scars, Sparse scalp hair, Prominent sca...	ORPHA:536471
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi...	ORPHA:325124
Immunodeficiency 96	Defective T cell proliferation, Increased mean corpuscular volume, Increased proportion of gamma-...	OMIM:619774
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Woolly hair	OMIM:611528
Transcobalamin Ii Deficiency	Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, F...	OMIM:275350
Microphthalmia, Syndromic 9	Multilobulated spleen, Right aortic arch with mirror image branching, Truncus arteriosus, Pulmona...	OMIM:601186
Glass Syndrome	Nail dysplasia, Long eyelashes, Short stature, Thin skin, Sparse hair	OMIM:612313
Familial Cold Autoinflammatory Syndrome 1	Arthritis, Skin rash, Uveitis, Conjunctivitis	OMIM:120100
Histiocytosis-Lymphadenopathy Plus Syndrome	Alopecia of scalp, Hepatomegaly, Decreased response to growth hormone stimulation test, Lymphaden...	OMIM:602782
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Neoplasm of the lung, Ne...	ORPHA:1332
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Atresia of the external auditory canal, Conductive hearing impairment, Fine hair, Aplasia/Hypopla...	ORPHA:3236
Prolactinoma	Delayed puberty, Erectile dysfunction, Dyspareunia, Impotence, Female hypogonadism, Hypogonadism,...	ORPHA:2965
Sarcoidosis	Enlarged lacrimal glands, Abnormality of the adrenal glands, Hepatomegaly, Abnormal lymph node mo...	ORPHA:797
Juvenile Hyaline Fibromatosis	Skin ulcer, Abnormal hair morphology, Aplasia/Hypoplasia of the skin, Papule, Subcutaneous nodule	ORPHA:2028
Night Blindness, Congenital Stationary, Type 1C	Abnormality of skin pigmentation	OMIM:613216
Autosomal Recessive Spastic Paraplegia Type 44	Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok...	ORPHA:320401
Frasier Syndrome	Ambiguous genitalia, male, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Primary am...	ORPHA:347
Noonan Syndrome 5	Small nail, Low-set ears, Dry skin, Curly hair, Sparse eyebrow, Fine hair, Cryptorchidism, Thicke...	OMIM:611553
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Postnatal growth retardation, Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Elevated c...	ORPHA:79240
Epidermolysis Bullosa Simplex With Pyloric Atresia	Nail dystrophy, Scarring alopecia of scalp	ORPHA:158684
Kikuchi-Fujimoto Disease	Elevated circulating hepatic transaminase concentration, Lymphocytosis, Papule, Skin nodule, Macu...	ORPHA:50918
Woodhouse-Sakati Syndrome	Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the uterus, Decreased response to...	ORPHA:3464
Noonan Syndrome 6	Juvenile myelomonocytic leukemia, Sensorineural hearing impairment, Long eyebrows, Low-set ears, ...	OMIM:613224
Perrault Syndrome 2	Amenorrhea, Streak ovary	OMIM:614926
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Hyperbilirubinemia, Ascites, Splenomegaly, Elevated circulating alpha-fetoprotein c...	OMIM:251880
Carney Complex	Ductal carcinoma in situ, Multiple lentigines, Neoplasm of the pancreas, Increased body weight, P...	ORPHA:1359
Inflammatory Pseudotumor Of The Liver	Cirrhosis, Increased hepatitis B virus antibody level, Abnormal liver sonography, Biliary tract a...	ORPHA:90003
Congenital Enterovirus Infection	Myocarditis, Sepsis, Hydrops fetalis, Polyhydramnios, Skin rash, Pleural effusion, Fetal ascites,...	ORPHA:292
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Thin bony ...	OMIM:264700
Glucocorticoid Deficiency 5	Hyperpigmentation of the skin	OMIM:617825
Anaplastic Thyroid Carcinoma	Lymphadenopathy, Anaplastic thyroid carcinoma, Neoplasm of the lung, Neoplasm of the skeletal sys...	ORPHA:142
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Synophrys, Cafe-au-lait spot, Thin skin, Thin eyebrow, Widow's peak	OMIM:617804
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper...	ORPHA:399808
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Osteoporosis, Ankylosis, Recurrent fractures	OMIM:239000
Intermediate Uveitis	Optic neuritis, Band keratopathy, Vasculitis, Tubulointerstitial nephritis, Anterior uveitis, Cat...	ORPHA:279914
Mucopolysaccharidosis, Type Iiia	Hirsutism, Synophrys, Hearing impairment, Splenomegaly, Coarse hair	OMIM:252900
Cockayne Syndrome	Delayed puberty, Optic atrophy, Decreased nerve conduction velocity, Premature skin wrinkling, Cu...	ORPHA:191
Acitretin/Etretinate Embryopathy	Hypoplasia of the thymus	ORPHA:40366
Chromosome 17Q12 Deletion Syndrome	Nail dysplasia, Nail dystrophy, Small nail, Highly arched eyebrow, Sparse eyebrow, Ovarian cyst, ...	OMIM:614527
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ...	ORPHA:1916
Vitamin D-Dependent Rickets, Type 2A	Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Thin bony ...	OMIM:277440
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Erectile dysfunction, Hepatocellular carcinoma, Decreased libido, Infert...	ORPHA:465508
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level, Small for ge...	OMIM:215250
Wiedemann-Rautenstrauch Syndrome	Alopecia of scalp, Broad eyebrow, Hypospadias, Small nail, Long penis, Increased serum testostero...	OMIM:264090
2Q32Q33 Microdeletion Syndrome	Decreased testicular size, Fine hair, Low-set ears, Sparse hair	ORPHA:251019
Mandibuloacral Dysplasia Progeroid Syndrome	Nail dystrophy, Sparse eyebrow, Elevated hemoglobin A1c, Sparse hair, Palmoplantar hyperkeratosis	OMIM:619127
Thrombocytopenia-Absent Radius Syndrome	Anemia, Decreased circulating antibody level, Leukocytosis, Hepatosplenomegaly, Facial capillary ...	OMIM:274000
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se...	ORPHA:90796
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Polyhydramnios, Hydrops fetalis, Hepatomegaly, Splenomegaly, Fetal ascites	OMIM:619462
Junctional Epidermolysis Bullosa With Pyloric Atresia	Nail dystrophy	ORPHA:79403
Insulin Autoimmune Syndrome	Hyperinsulinemic hypoglycemia, Increased circulating antibody level, Weight loss, Insulin-resista...	ORPHA:411593
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia, Widow's peak	OMIM:266265
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Hirsutism, Synophrys, Decreased circulating IgG level, Decreased circulating total IgM, Decreased...	OMIM:300861
Osteopathia Striata-Cranial Sclerosis Syndrome	Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecularization, Facial hyper...	ORPHA:2780
Cahmr Syndrome	Generalized hypertrichosis	OMIM:211770
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia, Generalized hirsutism	ORPHA:1933
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Highly arched eyebrow, Sparse pubic hair, Female infertility, Am...	OMIM:110100
Adult-Onset Still Disease	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Neutrophilia, S...	ORPHA:829
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal neck blood vessel morphology, Abnormal lymph node morphology, Papillary thyroid carcinom...	ORPHA:97290
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypsarrhythmia, EEG with occipital epileptiform discharges, Synophrys, EEG with parietal epilepti...	OMIM:619428
Oculocutaneous Albinism Type 1B	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret...	ORPHA:79434
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cachexia, Hepatomegaly, Hepatic steatosis	ORPHA:42
Mucopolysaccharidosis, Type Iiic	Hirsutism, Synophrys, Hearing impairment, Splenomegaly, Hypertrichosis, Coarse hair	OMIM:252930
Camurati-Engelmann Disease	Increased bone mineral density, Cortical thickening of long bone diaphyses, Sclerosis of skull ba...	OMIM:131300
Dermatofibrosarcoma Protuberans	Fibrosarcoma, Neoplasm of the skin	ORPHA:31112
Primary Sclerosing Cholangitis	Hepatomegaly, Pancreatitis, Neoplasm of the gallbladder, Thyroiditis, Adenocarcinoma of the large...	ORPHA:171
Chand Syndrome	Nail dysplasia, Curly hair	OMIM:214350
Hutchinson-Gilford Progeria Syndrome	Generalized abnormality of skin, Dystrophic fingernails, Loss of eyelashes, Premature skin wrinkl...	ORPHA:740
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Sensorineural hearing impairment, EEG abnormality, Facial palsy, Absent brainstem auditory responses	OMIM:617519
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Failure to thrive, T...	OMIM:617591
Ciliary Dyskinesia, Primary, 41	Infertility, Immotile sperm	OMIM:618449
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Periorbital wrinkles, Sparse eyelashes, Sparse eyebrow, Sparse hair, Hypohidrotic ectodermal dysp...	OMIM:224900
Paraneoplastic Pemphigus	B-cell lymphoma, Sarcoma, Thymoma	ORPHA:63455
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Fine hair, High anterior hairline, Long eyelashes	ORPHA:231137
Melnick-Needles Syndrome	Joint hypermobility, Osteolytic defects of the phalanges of the hand, Craniofacial hyperostosis, ...	ORPHA:2484
Gastrointestinal Stromal Tumor	Esophageal neoplasm, Neoplasm of the stomach, Anemia, Neoplasm of the rectum, Neoplasm of the sma...	ORPHA:44890
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Increased variability in muscle fiber diameter, Flexion contracture	OMIM:619026
Ovarian Dysgenesis 3	Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu...	OMIM:614324
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Neoplasm of the nervous system, Neoplasm of the eye, Neoplasm of the lung, Ascites,...	ORPHA:100085
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents	OMIM:616435
Cockayne Syndrome A	Dry hair, Optic atrophy, Decreased nerve conduction velocity, Cutaneous photosensitivity, Prematu...	OMIM:216400
Cirrhosis, Familial	Fulminant hepatitis, Increased level of propylene glycol in blood, Ascites	OMIM:215600
Lig4 Syndrome	Pancytopenia, Hypothyroidism, Failure to thrive, Acute lymphoblastic leukemia, Low anterior hairl...	OMIM:606593
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy, Weight loss	ORPHA:50251
Renpenning Syndrome 1	Brittle hair, Decreased testicular size, Hearing impairment, Sparse lateral eyebrow, Macrotia, Sp...	OMIM:309500
Desmosterolosis	Abnormal cortical gyration, Lissencephaly, Polymicrogyria, Aplasia/Hypoplasia of the skin, Growth...	ORPHA:35107
Fragile X Syndrome	Chronic otitis media, Folate-dependent fragile site at Xq28, Sinusitis, Otitis media	ORPHA:908
Autoimmune Polyendocrine Syndrome, Type Ii	Cirrhosis, Iron deficiency anemia, Asplenia, Hypothyroidism, Chronic hepatitis, Primary adrenal i...	OMIM:269200
Copper Deficiency, Familial Benign	Early balding, Anemia, Curly hair	OMIM:121270
Vulto-Van Silfhout-De Vries Syndrome	Horizontal eyebrow, Fine hair, Widow's peak	OMIM:615828
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia	OMIM:618948
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Broad eyebrow, Highly arched eyebrow, Hirsutism, Low-set ears, Dry skin, Woolly hair, Low anterio...	OMIM:619244
Ovarian Hyperstimulation Syndrome	Pulmonary edema, Hirsutism, Pleural effusion, Ascites, Generalized edema, Peripheral edema	ORPHA:64739
Noonan Syndrome 12	Decreased response to growth hormone stimulation test, Thrombocytopenia, Glabellar hemangioma, Ly...	OMIM:618624
Intellectual Developmental Disorder, Autosomal Dominant 34	Hearing impairment, Coarse hair, Synophrys, Curly hair	OMIM:616351
Agammaglobulinemia 1, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Recurrent pneumoni...	OMIM:601495
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Neuroendocrine neoplasm, Decreased circulating ACTH concentration, Memory impairment, Macronodula...	ORPHA:189427
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Abnormal circulating cytokine concentration, Jaundice, Anemia, Lymphad...	ORPHA:540
Lymphangioleiomyomatosis	Retinal hamartoma, Renal neoplasm, Chylopericardium, Chylothorax, Lymphedema, Ascites, Recurrent ...	ORPHA:538
Trichorhinophalangeal Syndrome Type 1	Leukonychia, Sparse eyelashes, Sparse eyebrow, Fragile nails, Sparse hair	ORPHA:77258
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Hypokalemia, Adrenocortical adenoma, Abnormal abdomen mor...	ORPHA:97282
Ablepharon Macrostomia Syndrome	Breast hypoplasia, Excessive wrinkled skin, Absent eyelashes, Microtia, Redundant skin, Dry skin,...	ORPHA:920
Mogs-Cdg	Hepatomegaly, Hirsutism, Inappropriate antidiuretic hormone secretion, Decreased circulating anti...	ORPHA:79330
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Decreased circulating total IgM, Anemia, Lymphadenopathy, B lymp...	OMIM:619381
Lipodystrophy, Familial Partial, Type 7	Decreased adipose tissue around neck, Orthostatic hypotension, Low-set ears, Sparse scalp hair, F...	OMIM:606721
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Low-set ears, Hypogonadism, Fine hair, Cryptorchidism, Alopecia	ORPHA:228390
Immunodeficiency 55	Lymphadenopathy, Lymphopenia, Absent natural killer cells, Myelodysplasia, Neutropenia	OMIM:617827
Cardiofaciocutaneous Syndrome 4	Decreased response to growth hormone stimulation test, Alopecia of scalp, Optic nerve hypoplasia,...	OMIM:615280
Bannayan-Riley-Ruvalcaba Syndrome	Thyroid carcinoma, Intestinal polyposis, Lipoma, Capillary hemangioma, Cachexia, Neoplasm of the ...	ORPHA:109
Insulin-Resistance Syndrome Type B	Increased body weight, Biliary cirrhosis, Hodgkin lymphoma, Leukopenia, Fasting hyperinsulinemia,...	ORPHA:2298
Ravine Syndrome	Abnormal auditory evoked potentials	ORPHA:99852
Hypoglossia With Situs Inversus	Polysplenia, Asplenia	OMIM:612776
Wiedemann-Rautenstrauch Syndrome	Severe intrauterine growth retardation, Aplasia/Hypoplasia of the nails, Sparse hair, Intrauterin...	ORPHA:3455
Myopathy With Lactic Acidosis, Hereditary	Increased variability in muscle fiber diameter, Rhabdomyolysis, Skeletal muscle atrophy, Increase...	OMIM:255125
Congenital Myopathy 22A, Classic	Ragged-red muscle fibers, Scapular winging, Congenital finger flexion contractures, Limb muscle w...	OMIM:620351
Congenital Sialidosis Type 2	Hepatomegaly, Generalized hypertrichosis, Ascites, Hepatosplenomegaly, Edema	ORPHA:93400
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Knee flexion contracture, Elbow flexion contracture, Increased variabi...	OMIM:619461
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Nail dystrophy, Sparse scalp hair, Sparse eyelashes, Onycholysis, Sparse eyebrow, Fine hair	OMIM:614748
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Thrombocyto...	ORPHA:100026
Thymic Carcinoma	Mediastinal lymphadenopathy, Neoplasm of the thymus, Weight loss	ORPHA:99868
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Knee osteoarthritis, Osteoarthritis of the elbow, Ascites, Pericarditis	ORPHA:2848
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Hypospadias, Abnormal vagina morphology, Cryptorchidism, Obesity, Abnormality of the uterus, Stre...	OMIM:194072
Lymphedema-Distichiasis Syndrome	Ectropion, Corneal erosion, Recurrent urinary tract infections, Distichiasis, Ptosis, Arrhythmia,...	ORPHA:33001
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Increased serum bile acid concentration, Decreased circulating copper concentration, Decreased ci...	OMIM:242150
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Delayed puberty, Sensorineural hearing impairment, Synophrys, Hypothyroidism, Macrotia, Low anter...	ORPHA:391408
Focal Dermal Hypoplasia	Nail dysplasia, Optic atrophy, Nail dystrophy, Mixed hearing impairment, Ridged nail, Brittle hai...	OMIM:305600
Farber Disease	Hydrops fetalis, Arthritis, Ascites, Hepatosplenomegaly, Recurrent upper respiratory tract infect...	ORPHA:333
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Nail dysplasia, Curly eyelashes, Facial hirsutism, Microtia, Low posterior hairline, Curly hair, ...	ORPHA:163654
Congenital Disorder Of Glycosylation, Type Iie	Jaundice, Excessive wrinkled skin, Sensorineural hearing impairment, Low-set ears, Low anterior h...	OMIM:608779
Vici Syndrome	Hypopigmentation of hair, Cutaneous anergy, T lymphocytopenia, Failure to thrive, Decreased circu...	OMIM:242840
Xeroderma Pigmentosum, Complementation Group E	Ectropion, Entropion, Keratitis, Conjunctivitis, Telangiectasia	OMIM:278740
Ehlers-Danlos Syndrome, Classic-Like, 2	Prematurely aged appearance, Redundant skin, Low posterior hairline, Macrotia, Thin eyebrow, Brui...	OMIM:618000
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Polyhydramnios, Hypertyrosinemia, Hyperbilirubinemia, Ascites, Conjugated hyperbilirubinemia, Hyp...	OMIM:617156
Autoimmune Disease, Susceptibility To, 1	Vitiligo	OMIM:607836
Macrophage Activation Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Hemophagocytosis, Abnormal natural killer cell count, Incr...	ORPHA:158061
Prolidase Deficiency	Hepatomegaly, Anemia, Increased circulating antibody level, Facial hirsutism, Low posterior hairl...	OMIM:170100
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Cachexia, Severe failure to thrive	ORPHA:371364
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Portal hypertension, Hypothyroidism, Hashimoto thyroiditis, Splenomeg...	OMIM:613385
Caroli Disease	Hepatomegaly, Cholangitis, Conjunctival icterus, Ascites, Splenomegaly, Conjugated hyperbilirubin...	ORPHA:53035
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Lipoma, Odontoma, Thyroid nodule, Desmoid tumors, Fibroadenoma of the b...	ORPHA:247806
Peroxisome Biogenesis Disorder 2A (Zellweger)	Clitoral hypertrophy, Jaundice, Hepatomegaly, Intrahepatic biliary dysgenesis, Hypoplasia of the ...	OMIM:214110
Premature Ovarian Failure 7	Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus	OMIM:612964
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Ischemic stroke, Corneal neovascularization, Astigmatism, Polycoria, Microcornea, Corneal opacity...	OMIM:175780
Cogan Syndrome	Large vessel vasculitis, Aortic regurgitation, Inflammatory abnormality of the eye, Vasculitis, E...	ORPHA:1467
Oculocutaneous Albinism Type 2	Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, White ...	ORPHA:79432
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Sensorineural hearing impairment, Low-set ears, Synophrys, Curly hair, Hyposegmentation of neutro...	OMIM:620075
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Adrenocortical adenoma, Pheochromocytoma, Neoplasm of the...	ORPHA:97261
Yao Syndrome	Arthritis, Skin rash, Pericarditis, Inflammatory abnormality of the skin, Keratoconjunctivitis si...	OMIM:617321
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Hemophagocytosis, Weight loss	ORPHA:86884
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Liver Disease, Severe Congenital	Nail dystrophy, Hypoproteinemia, Ascites, Hyperammonemia, Splenomegaly, Hypocalcemia, Chronic gas...	OMIM:619991
Cowden Syndrome 1	Carcinoma, Thyroiditis, Decreased circulating antibody level, Lymphopenia, Hamartomatous polyposi...	OMIM:158350
Autoimmune Hypoparathyroidism	Increased bone mineral density	ORPHA:36913
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Schimke Immuno-Osseous Dysplasia	Abnormality of thyroid physiology, Anemia, Pancreatitis, Abnormal proportion of naive CD4 T cells...	ORPHA:1830
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced hematocrit, Anemia, Hepatomegaly, Anemia of inadequate production, Persistence of hemoglo...	OMIM:613673
Spondyloarthropathy, Susceptibility To, 1	Hip osteoarthritis, Aortic regurgitation, Inflammation of the large intestine, Sacroiliac arthrit...	OMIM:106300
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
X-Linked Dominant Chondrodysplasia Punctata	Scaling skin, Scarring alopecia of scalp, Abnormality of the nail, Sensorineural hearing impairme...	ORPHA:35173
Oligoarticular Juvenile Idiopathic Arthritis	Knee osteoarthritis, Arthritis, Band keratopathy, Rheumatoid arthritis, Cataract, Oligoarthritis,...	ORPHA:85410
Costello Syndrome	Low-set, posteriorly rotated ears, Abnormal hair morphology, Redundant skin, Woolly hair, Deep-se...	ORPHA:3071
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Weight loss, Chronic myelogenous leukemia, Thrombocytosis, ...	ORPHA:71493
Immunodeficiency 43	Lung abscess, B lymphocytopenia, Decreased circulating IgG level, Abnormal circulating IgA level,...	OMIM:241600
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hearing impairment, EEG abnormality, Brittle hair	OMIM:124000
Ring Chromosome 10 Syndrome	Cachexia	ORPHA:1438
Neurofibromatosis Type 1	Delayed puberty, Rhabdomyosarcoma, Spinal neurofibroma, Abnormality of the endocrine system, Pheo...	ORPHA:636
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Neutropenia	OMIM:618752
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm...	ORPHA:98754
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormal cortical bone morphology	OMIM:614886
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Subcutaneous nodule, Weight loss	ORPHA:33577
Neuropathy, Congenital Hypomyelinating, 3	Cachexia	OMIM:618186
Arterial Tortuosity Syndrome	Ischemic stroke, Aortic root aneurysm, Aortic tortuosity, Pulmonary artery stenosis, Thin skin, G...	OMIM:208050
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Refractory anemia with ringed siderobl...	OMIM:619523
Gardner Syndrome	Neoplasm of the pancreas, Lipoma, Odontoma, Thyroid nodule, Ampulla of Vater carcinoma, Desmoid t...	ORPHA:79665
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Chromosomal breakage induced by crosslinking agents	OMIM:619060
Ehlers-Danlos Syndrome, Periodontal Type, 1	Thin skin, Atrophic scars, Prominent superficial veins	OMIM:130080
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Thrombocytopenia, Hemolytic anemia, Lymphopenia	OMIM:616744
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Metacarpal osteolysis, Ankle flexion contracture, Ankylosis of feet small joints, Car...	OMIM:259600
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Dystrophic toenail, Low posterior hairline, Long eyelashes, Low anterior hairline, Supernumerary ...	OMIM:604314
Partial Androgen Insensitivity Syndrome	Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu...	ORPHA:90797
Polycythemia Vera	Acute leukemia, Hepatomegaly, Leukocytosis, Portal hypertension, Portal vein thrombosis, Polycyth...	ORPHA:729
Helsmoortel-Van Der Aa Syndrome	High anterior hairline, Decreased response to growth hormone stimulation test, Short stature, Thi...	OMIM:615873
Noonan Syndrome 8	Palmoplantar cutis laxa, Cryptorchidism, Low-set ears, Curly hair	OMIM:615355
Dysostosis, Stanescu Type	Increased bone mineral density, Massively thickened long bone cortices	ORPHA:1798
Cornelia De Lange Syndrome	Curly eyelashes, Highly arched eyebrow, Hypoplastic nipples, Low posterior hairline, Synophrys, L...	ORPHA:199
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy	OMIM:620514
Mosaic Variegated Aneuploidy Syndrome	Rhabdomyosarcoma, Polyhydramnios, Intestinal polyposis, Stomach cancer, Ascites, Vaginal neoplasm...	ORPHA:1052
Arterial Tortuosity Syndrome	Abnormal carotid artery morphology, Vascular dilatation, Aortic aneurysm, Aortic root aneurysm, P...	ORPHA:3342
Fragile X Syndrome	Folate-dependent fragile site at Xq28	OMIM:300624
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm...	ORPHA:98793
Tonne-Kalscheuer Syndrome	Small nail, Decreased testicular size, Concave nail, Fine hair, Cryptorchidism	OMIM:300978
46,Xy Sex Reversal 1	Gonadal dysgenesis, Abnormal female external genitalia morphology, Absence of secondary sex chara...	OMIM:400044
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Muscle fiber necrosis, Limb...	OMIM:157640
Xeroderma Pigmentosum, Variant Type	Ectropion, Cutaneous telangiectasia, Entropion, Keratitis, Conjunctivitis	OMIM:278750
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance	OMIM:619173
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Aplasia of the uterus, Aplasia of the fallopian tube, Aplasia of the...	OMIM:158330
Vascular Ehlers-Danlos Syndrome	Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric vessels, Arteriovenous...	ORPHA:286
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm...	ORPHA:177904
Ogden Syndrome	Redundant neck skin, Redundant skin, Cutis laxa, Fine hair, Jaundice, Minimal subcutaneous fat, P...	OMIM:300855
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Adrenocortical adenoma, Neoplasm of the small intestine, ...	ORPHA:97278
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm...	ORPHA:177901
Congenital Myopathy 22B, Severe Fetal	Polyhydramnios, Hepatomegaly, Pleural effusion, Ascites, Synophrys, Downslanted palpebral fissure...	OMIM:620369
Cartilage-Hair Hypoplasia	Basal cell carcinoma, Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Macrocy...	OMIM:250250
Adrenomyeloneuropathy	Adrenocortical abnormality, Erectile dysfunction, Frontal balding, Adrenocorticotropic hormone ex...	ORPHA:139399
Pachydermoperiostosis	Abnormal cortical bone morphology, Arthritis, Limitation of joint mobility, Osteoporosis, Osteoly...	ORPHA:2796
Multiple Sulfatase Deficiency	Optic atrophy, Sensorineural hearing impairment, Thick eyebrow, Splenomegaly, Abnormality of peri...	ORPHA:585
Ciliary Dyskinesia, Primary, 18	Absent outer dynein arms, Male infertility, Abdominal situs ambiguus, Immotile sperm, Absent inne...	OMIM:614874
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Male infertility, Hepatomegaly, Anemia, Abnormal lymph node morphology,...	ORPHA:85450
Zika Virus Disease	Myelitis, Arthritis, Skin rash, Infectious encephalitis, Conjunctivitis, Lens subluxation, Mening...	ORPHA:448237
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic disc pallor, Synophrys	OMIM:619260
Dysosteosclerosis	Osteopenia, Clavicular sclerosis, Sclerosis of hand bone, Sclerosis of skull base, Sclerotic scap...	OMIM:224300
Avian Influenza	Sepsis, Myelitis, Elevated circulating C-reactive protein concentration, Pleural effusion, Elevat...	ORPHA:454836
Hypocalcemic Vitamin D-Dependent Rickets	Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin bony cortex,...	ORPHA:289157
Whim Syndrome	Neutropenia, Parotitis, Decreased circulating antibody level, Lymphadenitis, Abnormal neutrophil ...	ORPHA:51636
Pseudo-Torch Syndrome 2	Hepatomegaly, Pleural effusion, Ascites	OMIM:617397
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased circulating total IgG, Decreased lymphocyte proliferation in response to mitogen, Decre...	ORPHA:221139
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy, T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia	OMIM:607944
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Sensorineural hearing impairment, Progeroid facial appearance	ORPHA:50811
Camurati-Engelmann Disease	Delayed puberty, Hepatomegaly, Anemia, Cachexia, Slender build, Leukopenia, Splenomegaly, Hypogon...	ORPHA:1328
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Postnatal growth retardation, Aortic root aneurysm, Ascending tubular aorta aneurysm, Stroke, Atr...	ORPHA:536467
Immunodeficiency 31C	Autoimmune hemolytic anemia, Delayed puberty, Hepatomegaly, Impaired lymphocyte transformation wi...	OMIM:614162
Vaginal Atresia	Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ...	ORPHA:65681
Braddock-Carey Syndrome 1	Curly hair, Macrotia, Posteriorly rotated ears, Thrombocytopenia, Sparse hair	OMIM:619980
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Elevated circulating thyroid-stimulating hormone concentration, Anemi...	OMIM:242900
Idiopathic Achalasia	Weight loss	ORPHA:930
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Clitoral hypertrophy, Premature thelarche, D...	ORPHA:90795
Chronic Graft Versus Host Disease	Nail dystrophy, Recurrent infections, Arthritis, Xerostomia, Pleural effusion, Ascites, Onycholys...	ORPHA:99921
Fanconi Anemia, Complementation Group J	Chromosomal breakage induced by crosslinking agents	OMIM:609054
Cockayne Syndrome B	Optic atrophy, Decreased nerve conduction velocity, Abnormal hair morphology, Cutaneous photosens...	OMIM:133540
Ayme-Gripp Syndrome	Broad eyebrow, Nail dystrophy, Sparse scalp hair	OMIM:601088
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Premature skin wrinkling, Poikilocytosis, Macrotia, Prominent antihelix, Acant...	OMIM:618947
Fanconi Anemia, Complementation Group O	Chromosome breakage	OMIM:613390
Osteopetrosis, Autosomal Recessive 3	Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis	OMIM:259730
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c...	ORPHA:35858
X-Linked Intellectual Disability, Cabezas Type	Cachexia, Synophrys, Decreased testicular size, Obesity, Abnormal hair pattern, Hypogonadism	ORPHA:85293
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Trichiasis, Nail dystrophy, Anemia, Hyperpigmentation of the skin, Hypopigmentation of the skin, ...	ORPHA:95455
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:620481
Fetal Hydantoin Syndrome	Hypoplastic fingernail, Low-set, posteriorly rotated ears, Abnormal pinna morphology, Low posteri...	ORPHA:1912
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Polysplenia, Reduced progressive sperm motility	OMIM:619608
Hypokalemic Periodic Paralysis	Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets	ORPHA:681
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hypoplasia of the ovary, Leukocytosis, Decreased testicular size, Short stature, Micropenis, Intr...	OMIM:619321
Pycnodysostosis	Generalized osteosclerosis, Increased bone mineral density, Osteolytic defects of the distal phal...	ORPHA:763
Blau Syndrome	Iritis, Arthritis, Band keratopathy, Hypertension, Cataract, Synovitis, Eczematoid dermatitis, Pe...	OMIM:186580
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Verrucae, Hodgkin lymphoma, Lymphopenia, Lymphoproliferative disorde...	OMIM:614868
Neuroocular Syndrome	Brittle hair, Highly arched eyebrow, Small nail, Unilateral deafness, Low-set ears, Distichiasis,...	OMIM:619539
Celiac Disease, Susceptibility To, 1	Delayed puberty, Iron deficiency anemia, Macrocytic anemia, Thyroiditis, Lymphoma, Failure to thr...	OMIM:212750
Woodhouse-Sakati Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ...	OMIM:241080
Wilson Disease	Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilirubinemia...	OMIM:277900
Ulerythema Ophryogenesis	Sparse lateral eyebrow, Erythematous papule, Dermal atrophy, Hyperkeratotic papule	ORPHA:3406
Muckle-Wells Syndrome	Recurrent aphthous stomatitis, Elevated circulating C-reactive protein concentration, Conjunctiva...	OMIM:191900
Stüve-Wiedemann Syndrome	Osteopenia, Abnormal cortical bone morphology, Elbow flexion contracture, Limitation of joint mob...	ORPHA:3206
Bardet-Biedl Syndrome	Childhood-onset truncal obesity, Elevated circulating hepatic transaminase concentration, Hypopla...	ORPHA:110
Trichorhinophalangeal Syndrome, Type I	Leukonychia, Thin nail, Slow-growing hair, Sparse scalp hair, Sparse lateral eyebrow, Thin eyebro...	OMIM:190350
Autosomal Recessive Multiple Pterygium Syndrome	Absence of labia majora, Webbed neck, Aortic aneurysm, Hypoplasia of penis, Aplasia/Hypoplasia of...	ORPHA:2990
Cartilage-Hair Hypoplasia	Hepatomegaly, Hypocalcemia, Abnormality of chromosome stability, Decreased circulating antibody l...	ORPHA:175
Sjogren Syndrome	Rheumatoid arthritis, Tubulointerstitial nephritis, Keratoconjunctivitis sicca	OMIM:270150
Geroderma Osteodysplastica	Growth delay, Thin skin, Severe short stature	ORPHA:2078
Short-Rib Thoracic Dysplasia 12	Polyhydramnios, Hepatomegaly, Hypoplastic nipples, Ascites, Splenomegaly, Epicanthus, Edema, Hama...	OMIM:269860
Severe Generalized Junctional Epidermolysis Bullosa	Nail dystrophy, Anemia, Abnormality of the nail, Anonychia, Paronychia, Alopecia	ORPHA:79404
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Adrenocortical adenoma, Neoplasm of the small intestine, ...	ORPHA:97283
Proteus Syndrome	Ovarian neoplasm, Diabetes insipidus, Testicular neoplasm, Enlarged polycystic ovaries, Neoplasm ...	ORPHA:744
Silver-Russell Syndrome	Cachexia, Decreased testicular size, Precocious puberty, Obesity, Premature adrenarche, Failure t...	ORPHA:813
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hepatomegaly, Male hypogonadism, Elevated circulating hepatic transaminase concentration, Elevate...	OMIM:615381
Fibrous Dysplasia Of Bone	Rickets, Osteomalacia, Abnormal bone structure, Cortical irregularity, Thin bony cortex, Patholog...	ORPHA:249
Adams-Oliver Syndrome 4	Hypoplastic toenails, Aplasia cutis congenita, Toenail dysplasia, Patent ductus arteriosus	OMIM:615297
Diffuse Alveolar Hemorrhage	Decreased circulating complement C3 concentration, Anemia, Leukocytosis, Thrombocytopenia, Weight...	ORPHA:90060
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul...	OMIM:612949
Lyme Disease	Arthritis, Arrhythmia, Atrioventricular block, Meningitis, Infectious encephalitis, Uveitis	ORPHA:91546
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Failure to thrive, Decreased circulating antibody level, Decreased circulating IgA level	OMIM:617744
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Anemia, Accessory spleen, Portal hypertension, Hypothyroidism, Decreased circulating IgG level, S...	OMIM:620005
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Muckle-Wells Syndrome	Recurrent aphthous stomatitis, Arthritis, Skin rash, Vasculitis, Episcleritis, Conjunctivitis, Uv...	ORPHA:575
Fanconi Anemia, Complementation Group P	Short palpebral fissure, Blepharophimosis, Squamous cell carcinoma, Chromosomal breakage induced ...	OMIM:613951
Oculocerebrocutaneous Syndrome	Focal dermal aplasia/hypoplasia, Cryptorchidism, Gray matter heterotopia, Alopecia	OMIM:164180
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s...	OMIM:614878
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Increased circulating interleukin 8 concentration, Broad eyebrow, Recurrent pneumonia, Bronchiect...	OMIM:301220
Juvenile Polyposis Of Infancy	Anemia, Cachexia, Hamartomatous polyposis, Hemangioma, Hemangioblastoma, Adenomatous colonic poly...	ORPHA:79076
Castleman Disease	Jaundice, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Increased circulating interleukin...	ORPHA:160
Kenny-Caffey Syndrome, Type 2	Increased bone mineral density, Thickened cortex of long bones	OMIM:127000
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Decreased circulating antibody level, Leukoc...	OMIM:615688
Ciliary Dyskinesia, Primary, 12	Short stature, Immotile sperm, Abnormal central microtubular pair morphology of respiratory motil...	OMIM:612650
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Myositis, Skin rash, Erysipelas, Conjunctival hyperemia, Conjunctivi...	OMIM:142680
Lethal Congenital Contracture Syndrome 9	Abnormality of the diaphragm, Wrist flexion contracture, Congenital contracture, Arthrogryposis m...	OMIM:616503
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Osteopetrosis	OMIM:618541
Familial Adenomatous Polyposis	Lipoma, Odontoma, Pituitary adenoma, Desmoid tumors, Neoplasm of the gastrointestinal tract, Duod...	ORPHA:733
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Hypocalcemia, Hyperbilirubinemia, Ascites, Hepatosplenomegaly, Splenomegaly	OMIM:259720
Tyrosinemia, Type I	Hypophosphatemic rickets, Hepatomegaly, Hypertyrosinemia, Hepatocellular carcinoma, Ascites, Sple...	OMIM:276700
Alg9-Cdg	Hepatomegaly, Rhizomelia, Periportal fibrosis, Hypoplasia of the ovary, Hypoplastic nipples, Bico...	ORPHA:79328
Noonan Syndrome 9	Sparse eyebrow, Cryptorchidism, Curly hair	OMIM:616559
Cutis Laxa, Autosomal Recessive, Type Iib	Excessive wrinkled skin, Redundant skin, Lack of skin elasticity, Protruding ear, Bruising suscep...	OMIM:612940
Smith-Kingsmore Syndrome	Large for gestational age, Curly hair, Thrombocytopenia, Cryptorchidism, Decreased circulating Ig...	OMIM:616638
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Increased circulating IgE level, Increased circulating...	OMIM:620565
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Woolly hair	OMIM:607450
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi...	OMIM:619418
Glycogen Storage Disease Ixc	Postnatal growth retardation, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase ...	OMIM:613027
Peutz-Jeghers Syndrome	Multiple lentigines, Anemia, Enlarged polycystic ovaries, Melanonychia, Pancreatic adenocarcinoma	ORPHA:2869
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Budd-Chiari Syndrome	Hepatomegaly, Ascites, Splenomegaly, Peritonitis, Cholecystitis	ORPHA:131
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Anemia, Hepatomegaly, Increased circulating interleukin 6 concentration, Congenital hyd...	OMIM:620376
Hemophagocytic Lymphohistiocytosis, Familial, 2	Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Leukopenia, Splenomegaly, Hepatosplenome...	OMIM:603553
Ogden Syndrome	Low-set ears, Cutis laxa, Macrotia, Aplasia/Hypoplasia of the eyebrow, Fine hair, Cryptorchidism	ORPHA:276432
Lethal Congenital Contracture Syndrome 10	Hypoplasia of the thymus	OMIM:617022
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Iris coloboma, Microcornea, Corneal opacity, Persistent pupillary membrane, Hyphema, Shallow ante...	OMIM:221900
Short Stature, Developmental Delay, And Congenital Heart Defects	Developmental cataract, Uveitis	OMIM:617044
Cleidocranial Dysplasia	Dystrophic fingernails, Dystrophic toenail, Spina bifida occulta	ORPHA:1452
Acrofacial Dysostosis, Palagonia Type	Aplasia/Hypoplasia of the skin, Sparse eyelashes, Sparse lateral eyebrow, Dermal atrophy, Short s...	ORPHA:1787
Rajab Interstitial Lung Disease With Brain Calcifications 1	Anasarca, Hypocalcemia, Recurrent urinary tract infections, Ascites, Unconjugated hyperbilirubine...	OMIM:613658
Phacoanaphylactic Uveitis	Abnormal corneal endothelium morphology, Hypopyon, Posterior synechiae of the anterior chamber, C...	ORPHA:209959
Peritoneal Cystic Mesothelioma	Dyspareunia, Menorrhagia, Weight loss, Peritonitis, Metrorrhagia	ORPHA:168816
Cryptogenic Organizing Pneumonia	Neutrophilia, Leukocytosis, Weight loss	ORPHA:1302
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Stomatitis, Adrenocortical adenoma, Skin rash, Abnormal a...	ORPHA:97280
Prader-Willi Syndrome	Decreased circulating inhibin B concentration, Decreased response to growth hormone stimulation t...	ORPHA:739
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Premature ovarian insufficiency, Hypoplasia of the uterus, Lacrimal gland aplasia, Decreased circ...	ORPHA:572333
Q Fever	Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Granuloma, Cryoglobu...	ORPHA:781
Microscopic Polyangiitis	Congestive heart failure, Gastrointestinal hemorrhage, Pancreatitis, Arthritis, Skin rash, Vascul...	ORPHA:727
Renal Nutcracker Syndrome	Anemia, Infertility, Renal artery stenosis, Dyspareunia, Vulval varicose vein, Varicocele, Dysmen...	ORPHA:71273
Noonan Syndrome 14	Low-set ears, Dry skin, Low posterior hairline, Curly hair, Sparse eyebrow, Posteriorly rotated e...	OMIM:619745
Pelizaeus-Merzbacher Disease	Cachexia, Failure to thrive in infancy	ORPHA:702
Ciliary Dyskinesia, Primary, 46	Reduced sperm motility	OMIM:619436
Malt Lymphoma	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Abnormality of the thyroid gla...	ORPHA:52417
Gaucher Disease, Perinatal Lethal	Polyhydramnios, Hepatomegaly, Ascites, Nonimmune hydrops fetalis, Splenomegaly, Hepatosplenomegaly	OMIM:608013
Mccune-Albright Syndrome	Hepatocellular adenoma, Cholestasis, Bone marrow hypocellularity, Ovarian cyst, Abnormal endocrin...	ORPHA:562
Hall-Riggs Syndrome	Slow-growing hair, Thick hair, Coarse hair	ORPHA:2107
Trichorhinophalangeal Syndrome, Type Iii	Sparse lateral eyebrow, Fine hair, Protruding ear, Sparse hair	OMIM:190351
Glycogen Storage Disease Vii	Increased muscle glycogen content, Increased variability in muscle fiber diameter	OMIM:232800
Fish-Eye Disease	Lymphadenopathy, Splenomegaly	ORPHA:79292
Cold Agglutinin Disease	Lymphadenopathy, Splenomegaly, Hemolytic anemia	ORPHA:56425
Cardiofaciocutaneous Syndrome 3	Curly hair	OMIM:615279
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Delayed puberty, Anemia, Cholelithiasis, Pancytopenia, Cachexia, Hepatosplenomegaly, Abnormality ...	ORPHA:2072
Achalasia, Familial Esophageal	Rheumatoid arthritis, Keratoconjunctivitis sicca	OMIM:200400
Optic Atrophy 11	Increased variability in muscle fiber diameter, Fiber type grouping, Facial diplegia	OMIM:617302
Rothmund-Thomson Syndrome	Nail dysplasia, Aplastic anemia, Anemia, Small nail, Abnormality of the nail, Infertility, Aplasi...	ORPHA:2909
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p...	OMIM:601455
Pycnodysostosis	Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand	OMIM:265800
Atrophoderma Vermiculata	Periauricular skin pits, Atrophic scars, Hypoplastic pilosebaceous units, Skin pit, Hyperkeratoti...	ORPHA:79100
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Dermatosparaxis Ehlers-Danlos Syndrome	Thin skin, Severe short stature	ORPHA:1901
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impaired oxidative b...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impaired oxidative b...	OMIM:233710
Osteopetrosis, Autosomal Recessive 7	Femur fracture, Osteopetrosis, Abnormal trabecular bone morphology	OMIM:612301
Radial-Renal Syndrome	Chromosome breakage	OMIM:179280
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Increased serum bile acid concentration, Recurrent urinary tract infections, Ascites...	ORPHA:731
Mitchell-Riley Syndrome	Hyperbilirubinemia, Ascites	OMIM:615710
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Craniofacial osteosclerosis, Osteopetrosis, Increased skull ossification, Diaphyseal sclerosis	OMIM:618476
Systemic Capillary Leak Syndrome	Pancreatitis, Leukocytosis, Weight loss, Multiple myeloma	ORPHA:188
Neuroblastoma	Anemia, Lymphadenopathy, Neoplasm of the nervous system, Neuroblastoma, Thrombocytopenia, Weight ...	ORPHA:635
Dent Disease	Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Recurrent fractur...	ORPHA:1652
Fusariosis	Lung abscess, Brain abscess, Granuloma, Hematological neoplasm, Abnormality of the spleen, Perito...	ORPHA:228119
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Anemia, B lymphocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Leukopenia, Thrombocyt...	ORPHA:508542
Car T Cell Therapy-Associated Cytokine Release Syndrome	Abnormal circulating cytokine concentration, Pulmonary edema, Increased circulating interleukin 6...	ORPHA:542323
Acromesomelic Dysplasia, Grebe Type	Sarcoma	ORPHA:2098
Multiple Myeloma	Anemia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgA level, Decrea...	ORPHA:29073
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Optic atrophy, Hyposegmentation of neutrophil nuclei, Cutis laxa, Thick eyebrow, Fine hair	OMIM:614800
Tsh-Secreting Pituitary Adenoma	Delayed puberty, Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adre...	ORPHA:91347
Kyphoscoliotic Ehlers-Danlos Syndrome	Aortic aneurysm, Synophrys, Short stature, Thin skin, Cerebral hemorrhage, Atypical scarring of s...	ORPHA:536545
Autosomal Dominant Optic Atrophy Plus Syndrome	Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud...	ORPHA:1215
Sheehan Syndrome	Normochromic anemia, Dyspareunia, Impotence, Decreased circulating cortisol level, Sparse axillar...	ORPHA:91355
Noonan Syndrome 4	High anterior hairline, Low-set ears, Curly hair, Sparse eyebrow, Thrombocytopenia, Posteriorly r...	OMIM:610733
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Fa...	OMIM:601596
Kosaki Overgrowth Syndrome	Xanthelasma, Progressive neurologic deterioration, Thin skin	OMIM:616592
Lenz-Majewski Hyperostotic Dwarfism	Cranial hyperostosis, Osteopetrosis, Abnormal cortical bone morphology, Increased bone mineral de...	ORPHA:2658
Ciliary Dyskinesia, Primary, 11	Short stature, Reduced sperm motility, Abnormal central microtubular pair morphology of respirato...	OMIM:612649
Livedoid Vasculopathy	Ischemic stroke, Abnormal capillary morphology, Skin ulcer, Anemia, Venous insufficiency, Erythem...	ORPHA:542643
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Increased bone mineral density, Coarse metaphyseal trabecularization, Thickened cortex of long bones	OMIM:620558
Native American Myopathy	Abnormality of skeletal muscle fiber size, Camptodactyly, Congenital contracture, Muscle fiber at...	ORPHA:168572
Cinca Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Splenomegaly, Abnormality...	ORPHA:1451
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Anemia, Abnormality of the lymphatic system, Abnormal lymphatic vessel morph...	ORPHA:464329
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Postnatal growth retardation, Juvenile myelomonocytic leukemia, Webbed neck, Highly arched eyebro...	OMIM:613563
Rothmund-Thomson Syndrome Type 1	Nail dysplasia, Aplastic anemia, Premature ovarian insufficiency, Anemia, Sparse or absent eyelas...	ORPHA:221008
Spinocerebellar Ataxia-Dysmorphism Syndrome	Optic atrophy, Low-set, posteriorly rotated ears, Coarse hair	ORPHA:1185
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Microtia, Synophrys, Hearing impairment, Long eyelashes, Macrotia, Fine hair	OMIM:620250
Loeys-Dietz Syndrome	Vascular dilatation, Arterial tortuosity, Aortic aneurysm, Arterial dissection, Aortic dissection...	ORPHA:60030
Crimean-Congo Hemorrhagic Fever	Morbilliform rash, Myocarditis, Hepatomegaly, Increased circulating IgG level, Parotitis, Acute p...	ORPHA:99827
Noonan Syndrome	Postnatal growth retardation, Juvenile myelomonocytic leukemia, Hepatomegaly, Webbed neck, Abnorm...	ORPHA:648
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Ragged-red muscle fibers, Scapular winging, Muscle fiber necrosis, Increased variability in muscl...	OMIM:607459
Ciliary Dyskinesia, Primary, 26	Absent outer dynein arms, Infertility, Reduced sperm motility	OMIM:615500
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impaired oxidative b...	OMIM:233690
Koolen-De Vries Syndrome	Hypopigmentation of hair, Abnormality of hair texture, Dry skin, Hypothyroidism, Protruding ear, ...	ORPHA:96169
Cardiomyopathy, Familial Hypertrophic, 4	Pericardial effusion, Hepatomegaly, Ascites, Pulmonary edema	OMIM:115197
Chediak-Higashi Syndrome	Anemia, Hemophagocytosis, Lymphadenopathy, Leukopenia, Impaired neutrophil bactericidal activity,...	OMIM:214500
Simple Cryoglobulinemia	Monoclonal elevation of IgG, Chronic lymphatic leukemia, Monoclonal elevation of circulating IgA,...	ORPHA:91139
Immunodeficiency, Common Variable, 10	Decreased response to growth hormone stimulation test, Decreased circulating total IgM, Decreased...	OMIM:615577
Osteogenesis Imperfecta, Type X	Osteopenia, Decreased calvarial ossification, Joint hypermobility, Thin bony cortex, Generalized ...	OMIM:613848
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi...	ORPHA:90794
Xeroderma Pigmentosum, Complementation Group C	Ectropion, Entropion, Keratitis, Conjunctivitis, Telangiectasia	OMIM:278720
Diffuse Cutaneous Mastocytosis	Lymphocytosis, Lymphadenopathy, Myeloproliferative disorder, Abnormality of the spleen	ORPHA:79456
Klatskin Tumor	Hepatomegaly, Jaundice, Lymphadenopathy, Weight loss, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Mucopolysaccharidosis-Plus Syndrome	Optic atrophy, Anemia, Hirsutism, Low posterior hairline, Long eyelashes, Synophrys, Bone marrow ...	OMIM:617303
Hypermobile Ehlers-Danlos Syndrome	Venous insufficiency, Aortic root aneurysm, Ascending tubular aorta aneurysm, Arterial dissection...	ORPHA:285
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Splenomegaly, Failure to thrive in infancy, Abscess	OMIM:612852
Oculocerebrocutaneous Syndrome	Hypopigmented skin patches, Skin tags, Polymicrogyria, Aplasia/Hypoplasia of the skin, Preauricul...	ORPHA:1647
Fowler Urethral Sphincter Dysfunction Syndrome	Hirsutism, Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea, Polycystic ovaries	ORPHA:2795
Familial Mediterranean Fever	Pancreatitis, Arthritis, Skin rash, Ascites, Pericarditis, Erysipelas, Osteoarthritis, Peritoniti...	ORPHA:342
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia, Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma	ORPHA:220295
Progressive Hemifacial Atrophy	Aplasia/Hypoplasia of the skin	ORPHA:1214
Familial Adenomatous Polyposis 1	Fibroma, Osteoma, Duodenal polyposis, Adrenocortical adenoma, Adenomatous colonic polyposis, Carc...	OMIM:175100
Chops Syndrome	Optic atrophy, Thick hair, Synophrys, Long eyelashes, Curly hair, Hearing impairment, Thick eyebr...	OMIM:616368
Fanconi Anemia, Complementation Group N	Acute myeloid leukemia, Medulloblastoma, Neuroblastoma, Epicanthus, Nephroblastoma, Chromosomal b...	OMIM:610832
Infantile Krabbe Disease	Cachexia, Failure to thrive	ORPHA:206436
Lacrimoauriculodentodigital Syndrome 2	Lacrimal duct atresia, Absent lacrimal punctum, Lacrimal duct aplasia, Conjunctivitis	OMIM:620192
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Decreased nerve conduction velocity, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
Brucellosis	Lung abscess, Liver abscess, Anemia, Lymphadenopathy, Hepatomegaly, Increased circulating IgG lev...	ORPHA:1304
Diamond-Blackfan Anemia 21	Anemia, Erythroid hypoplasia, Low-set ears, Synophrys, Horizontal eyebrow, Cutis marmorata, Throm...	OMIM:620072
Kawasaki Disease	Abnormality of nail color, Myocarditis, Cheilitis, Recurrent pharyngitis, Elevated circulating C-...	ORPHA:2331
Waardenburg Syndrome	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir...	ORPHA:3440
Purine Nucleoside Phosphorylase Deficiency	Abnormal T cell morphology, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T c...	ORPHA:760
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Legionnaires Disease	Jaundice, Pancreatitis, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, ...	ORPHA:549
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Iron deficiency anemia, Chronic noninfectious lymphadenopathy, Carcinoid tumor, Aty...	ORPHA:100075
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased variability in muscle fiber diameter, Myopathy	OMIM:604377
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Hypoplastic fingernail, Hyperconvex fingernails, Aplasia/Hypoplasia of the skin, Papule, Skin ves...	ORPHA:257
Juvenile Amyotrophic Lateral Sclerosis	Cachexia	ORPHA:300605
Mohr-Tranebjaerg Syndrome	Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp...	ORPHA:52368
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El...	OMIM:300835
Leopard Syndrome 1	Delayed puberty, Multiple lentigines, Hypospadias, Webbed neck, Hypoplasia of the ovary, Delayed ...	OMIM:151100
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Von Willebrand Disease	Venous insufficiency, Gastrointestinal angiodysplasia, Menorrhagia, Thrombocytopenia, Microcytic ...	ORPHA:903
Giant Axonal Neuropathy 1, Autosomal Recessive	Facial palsy, Curly hair	OMIM:256850
Limited Cutaneous Systemic Sclerosis	Hypopigmented skin patches, Abnormality of skin pigmentation	ORPHA:220402
Lipodystrophy, Congenital Generalized, Type 4	Hyperinsulinemia, Hepatomegaly, Hirsutism, Failure to thrive, Splenomegaly, Decreased circulating...	OMIM:613327
Kasabach-Merritt Phenomenon	Hepatic hemangioma, Anemia, Capillary hemangioma, Neoplasm of the skin, Tufted angioma, Abnormal ...	ORPHA:2330
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Nail dystrophy, Anemia, Iron deficiency anemia, Anonychia	ORPHA:79408
Tropical Endomyocardial Fibrosis	Hepatomegaly, Increased circulating interleukin 6 concentration, Cachexia, Splenomegaly, Eosinoph...	ORPHA:75565
Schwartz-Jampel Syndrome	Cachexia, Decreased body weight, Distichiasis, Decreased testicular size, Abnormal eyebrow morpho...	ORPHA:800
Carney Triad	Leiomyosarcoma, Adrenocortical adenoma, Pheochromocytoma, Ascites, Gastrointestinal stroma tumor,...	ORPHA:139411
2P15P16.1 Microdeletion Syndrome	Optic atrophy, Optic nerve hypoplasia, Low-set ears, Facial palsy, Long eyelashes, Decreased test...	ORPHA:261349
Perlman Syndrome	Polyhydramnios, Nephroblastomatosis, Renal hamartoma, Ascites, Visceromegaly, Nephroblastoma, Edema	OMIM:267000
Autosomal Dominant Cutis Laxa	Redundant neck skin, Premature skin wrinkling, Prematurely aged appearance, Redundant skin, Low-s...	ORPHA:90348
Noonan Syndrome 7	Low-set ears, Low posterior hairline, Curly hair, Large earlobe, Thickened helices	OMIM:613706
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis	OMIM:266810
Ciliary Dyskinesia, Primary, 34	Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti...	OMIM:617091
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	High anterior hairline, Recurrent otitis media, Excessive wrinkled skin, Prematurely aged appeara...	OMIM:619950
X-Linked Creatine Transporter Deficiency	Cachexia	ORPHA:52503
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Rhabdomyosarcoma, Dysgammaglobulinemia, B lymphocytopenia, Lymphoma,...	OMIM:251260
Parkes Weber Syndrome	Spinal arteriovenous malformation, Skin ulcer, Arteriovenous malformation, Venous malformation, V...	ORPHA:90307
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Truncus Arteriosus	Anomalous origin of the left common carotid artery from the brachiocephalic artery, Abnormal supe...	ORPHA:3384
Treacher-Collins Syndrome	Abnormality of the adrenal glands, Rectovaginal fistula, Abnormal hair morphology, Hypoplasia of ...	ORPHA:861
Retinoblastoma	Rhabdomyosarcoma, Leiomyosarcoma, Retinoblastoma, Lymphoma, Ewing sarcoma, Melanoma, Glioma, Pine...	ORPHA:790
X-Linked Hypophosphatemia	Rickets, Reduced bone mineral density, Vertebral hyperostosis, Arthritis, Limitation of joint mob...	ORPHA:89936
Gm1-Gangliosidosis, Type Ii	Joint stiffness, Thin bony cortex	OMIM:230600
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Slow-growing scalp hair, Abnormality of the nail, Sparse scalp hair, Hypoplastic pilosebaceous un...	OMIM:601345
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia...	OMIM:278850
Fanconi Anemia	Short palpebral fissure, Recurrent urinary tract infections, Abnormality of chromosome stability,...	ORPHA:84
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Large for gestational age, Curly hair, Hemangioma, Intestinal polyp, Cryptorchidism, Decreased ci...	ORPHA:457485
Gorlin-Chaudhry-Moss Syndrome	Conductive hearing impairment, Generalized hirsutism, Low anterior hairline, Coarse hair	ORPHA:2095
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Leukocytosis, Increased circulating IgD level,...	OMIM:610377
Sweet Syndrome	Anemia, Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Sterile absces...	ORPHA:3243
Sclerosing Cholangitis, Neonatal	Splenomegaly, Hepatomegaly, Ascites, Sclerosing cholangitis	OMIM:617394
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Upslanted palpebral fissure, Ascites, Epicanthus	OMIM:200995
Gallbladder Neuroendocrine Tumor	Neoplasm of the nervous system, Ascites, Biliary tract neoplasm, Cholecystitis, Neuroendocrine ne...	ORPHA:100086
Lymphatic Malformation 12	Polyhydramnios, Lymphedema, Recurrent upper and lower respiratory tract infections, Nonimmune hyd...	OMIM:620014
Terminal Osseous Dysplasia	Fibroma	OMIM:300244
Familial Osteodysplasia, Anderson Type	Abnormal cortical bone morphology, Recurrent fractures, Increased susceptibility to fractures	ORPHA:2769
Infection-Related Hemolytic Uremic Syndrome	Hyperkalemia, Myocarditis, Increased circulating interleukin 6 concentration, Pancreatitis, Hypoc...	ORPHA:544482
Malakoplakia	Prostate neoplasm, Skin ulcer, Papule, Orchitis, Subcutaneous nodule, Abnormality of the menstrua...	ORPHA:556
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformation of the hepatic...	OMIM:615415
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy, Carcinoid tumor, Atypical pulmonary carcinoi...	ORPHA:100080
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Increased muscle glycogen content, Weakness of facial musculature, EMG: myopathic abnormalities, ...	ORPHA:502423
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Redundant neck skin, Highly arched eyebrow, Low-set ears, Low posterior hairline, Curly hair, Pos...	OMIM:617360
Desmoid Tumor	Fibroma, Neoplasm of the skin, Intestinal polyposis, Desmoid tumors	ORPHA:873
12Q14 Microdeletion Syndrome	Osteopoikilosis	ORPHA:94063
Oculopharyngodistal Myopathy 1	Distal amyotrophy, Rimmed vacuoles, Facial palsy, Autophagic vacuoles, EMG: myopathic abnormaliti...	OMIM:164310
Laron Syndrome	Delayed puberty, Prematurely aged appearance, Abnormality of the endocrine system	ORPHA:633
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Decreased serum leptin, Oligomenorrhea, Decreased adiponectin level, Polycystic ova...	ORPHA:79085
Tuberous Sclerosis 2	Retinal hamartoma, Adenoma sebaceum, Cardiac rhabdomyoma, Subungual fibromas, Chordoma, Subependy...	OMIM:613254
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Oligozoospermia, Melanocytic nevus, Varicose veins, Cryptorchidism, Keloids	OMIM:314300
Superficial Epidermolytic Ichthyosis	Thin skin	ORPHA:455
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Pancreatitis, Decreased serum leptin, Oligomenorrhea, Decreased adiponectin level, ...	ORPHA:435651
Even-Plus Syndrome	Highly arched eyebrow, Synophrys, Severe short stature, Sparse hair, Aplasia cutis congenita	OMIM:616854
Thanatophoric Dysplasia Type 1	Hearing impairment, Redundant skin, Excessive wrinkled skin	ORPHA:1860
Familial Multiple Nevi Flammei	Hypermelanotic macule, Skin ulcer, Arteriovenous malformation, Nevus flammeus, Venous insufficien...	ORPHA:624
Neuroblastoma, Susceptibility To, 1	Anemia, Neuroblastoma, Failure to thrive, Weight loss, Ganglioneuroma, Ganglioneuroblastoma	OMIM:256700
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Small nail, Abnormality of the endocrine system, Abnormal vena cava morphology, Absent eyelashes,...	ORPHA:166035
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Optic nerve hypoplasia, Fine hair	ORPHA:363686
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Nail dysplasia, Sensorineural hearing impairment, Low-set ears, Thrombocytopenia, Bruising suscep...	OMIM:612394
Xq28 (MECP2) duplication	Failure to thrive, Decreased circulating IgA level	DECIPHER:45
Multiple Endocrine Neoplasia Type 4	Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop...	ORPHA:276152
Combined Oxidative Phosphorylation Deficiency 19	Increased variability in muscle fiber diameter	OMIM:615595
Seckel Syndrome	Prematurely aged appearance, Absent earlobe, Abnormal earlobe morphology, Sparse scalp hair	ORPHA:808
Lassa Fever	Facial edema, Sepsis, Increased circulating IgM level, Conjunctivitis	ORPHA:99824
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy, Weight loss	ORPHA:411703
Intellectual Disability, Buenos-Aires Type	Hyperconvex thumb nails, Macrotia, Fine hair, Abnormal fingernail morphology	ORPHA:3079
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Delayed puberty, Abnormal circulating interferon-gamma concentration...	ORPHA:391487
Otopalatodigital Syndrome Type 2	Tarsal synostosis, Increased bone mineral density, Synostosis of carpal bones, Camptodactyly of f...	ORPHA:90652
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cirrhosis, Jaundice, Pancreatitis, Cholelithiasis, Hepatocellular carc...	ORPHA:65682
Gjc2-Related Late-Onset Primary Lymphedema	Varicose veins, Abnormal lymphatic vessel morphology, Hypoplasia of lymphatic vessels, Venous ins...	ORPHA:568051
Rett Syndrome	Cachexia	OMIM:312750
Fraser Syndrome 3	Cryptophthalmos, Nonimmune hydrops fetalis, Ascites, Oligohydramnios	OMIM:617667
Glucocorticoid Resistance, Generalized	Increased circulating androstenedione concentration, Increased serum testosterone level, Infertil...	OMIM:615962
Hydatidiform Mole	Enlarged uterus	ORPHA:99927
Hemophagocytic Lymphohistiocytosis, Familial, 1	Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Leukopenia, Splenomegaly	OMIM:267700
Antiphospholipid Syndrome, Familial	Scleritis, Iritis, Keratitis	OMIM:107320
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormality of the lymphatic system, Ovarian serous cystadenoma, Abnormal venous morphology, Abno...	ORPHA:276280
Myasthenic Syndrome, Congenital, 19	Increased variability in muscle fiber diameter, Facial palsy	OMIM:616720
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Galloway-Mowat Syndrome 9	Macrotia, Low-set ears, Coarse hair	OMIM:619603
Papa Syndrome	Lymphadenopathy, Increased circulating antibody level	ORPHA:69126
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hyperbilirubinemia, Ascites	ORPHA:464321
Sweeney-Cox Syndrome	Small nail, Bilateral cryptorchidism, Asplenia, Generalized hirsutism, Low anterior hairline, Wid...	OMIM:617746
Solitary Fibrous Tumor	Genital neoplasm, Abnormal peritoneum morphology, Neoplasm of the nervous system, Hypoinsulinemia...	ORPHA:2126
Plasminogen Deficiency, Type I	Periodontitis, Decreased level of plasminogen, Nephritis, Conjunctivitis, Recurrent upper respira...	OMIM:217090
Amyotrophic Lateral Sclerosis	Cachexia	ORPHA:803
Renal-Hepatic-Pancreatic Dysplasia 1	Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Cholestasis, Biliary cirrhosis, Portal hyperten...	OMIM:208540
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Ragged-red muscle fibers, Increased variability in muscle fiber diameter	ORPHA:70595
Orotic Aciduria	Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia...	OMIM:258900
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Familial Colorectal Cancer Type X	Neoplasm of the thyroid gland, Basal cell carcinoma, Neoplasm of the pancreas, Neoplasm of the re...	ORPHA:440437
Acrofacial Dysostosis, Catania Type	Cryptorchidism, Abnormal hair pattern, Low-set, posteriorly rotated ears, Coarse hair	ORPHA:1786
Bone Dysplasia, Lethal Holmgren Type	Failure to thrive, Hepatomegaly, Anemia, Weight loss	ORPHA:1842
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Pulmonary carcinoid tumor, Weight loss, Elev...	ORPHA:97287
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Holocarboxylase Synthetase Deficiency	Thrombocytopenia, Weight loss, Alopecia	ORPHA:79242
Atresia Of Urethra	Recurrent urinary tract infections, Oligohydramnios, Ascites	ORPHA:105
Cerebrofaciothoracic Dysplasia	Low-set, posteriorly rotated ears, Low posterior hairline, Synophrys, Abnormal hair pattern, Thic...	ORPHA:1394
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Hepatomegaly, Elevated circulating...	ORPHA:97214
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Megaloblastic anemia, Abnormality of hair texture, Hypogonadism	ORPHA:79351
Clapo Syndrome	Nevus flammeus, Venous malformation, Failure to thrive, Lymphangioma, Varicose veins	ORPHA:168984
Osteogenesis Imperfecta, Type I	Thin skin, Aortic aneurysm	OMIM:166200
Trisomy 20P	Low-set, posteriorly rotated ears, Thick hair, Highly arched eyebrow, Abnormal antihelix morpholo...	ORPHA:261318
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Recurrent cutaneous abscess formation, Eosinophilia, Cutaneous a...	OMIM:147060
Glycogen Storage Disease Of Heart, Lethal Congenital	Pulmonary edema, Pleural effusion, Ascites, Pericardial effusion, Peripheral edema, Anasarca	OMIM:261740
Senior-Boichis Syndrome	Increased total bilirubin, Hepatosplenomegaly, Ascites	ORPHA:84081
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Thin bony cortex, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis	OMIM:309583
Panhypophysitis	Central diabetes insipidus, Normochromic anemia, Decreased male libido, Reduced circulating prola...	ORPHA:95513
Nocardiosis	Scleritis, Sepsis, Thyroiditis, Meningitis, Lymphadenitis, Severe infection, Pericarditis, Kerati...	ORPHA:31204
Cardiofacioneurodevelopmental Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the nails, Abdominal situs inversus, Asplenia	OMIM:619123
Generalized Pustular Psoriasis	Congestive heart failure, Cheilitis, Sepsis, Arthritis, Palmoplantar pustulosis, Pustule, Erythro...	ORPHA:247353
Bare Lymphocyte Syndrome, Type Ii	Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia	OMIM:209920
Pyomyositis	Recurrent cutaneous abscess formation, Weight loss, Leukocytosis, Testicular teratoma	ORPHA:764
Cutis Laxa, Autosomal Recessive, Type Ic	Adrenal hypoplasia, Hypoplasia of the thymus, Accessory spleen	OMIM:613177
Ascites, Chylous	Chylous ascites	OMIM:208300
Alstrom Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Hyperinsulinemia, Elevated c...	OMIM:203800
Raine Syndrome	Increased bone mineral density, Subperiosteal bone formation, Arthrogryposis multiplex congenita	OMIM:259775
Relapsing Fever	Jaundice, Anemia, Leukocytosis, Neutrophilia, Thrombocytopenia, Leukopenia	ORPHA:91547
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Woolly hair	OMIM:610193
Adenohypophysitis	Normochromic anemia, Decreased male libido, Reduced circulating prolactin concentration, Pituitar...	ORPHA:95512
Generalized Glucocorticoid Resistance Syndrome	Frontal balding, Abnormal circulating testosterone concentration, Stroke, Hirsutism, Oligozoosper...	ORPHA:786
Keppen-Lubinsky Syndrome	Decreased testicular size, Premature skin wrinkling, Progeroid facial appearance	ORPHA:435628
Lynch Syndrome	Neoplasm of the stomach, Neoplasm of the pancreas, Intestinal polyposis, Neoplasm of the skin, Ma...	ORPHA:144
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Venous malformation, Webbed neck, Capillary malformation	OMIM:612918
Retinoblastoma	Retinoblastoma, Lymphoma, Ewing sarcoma, Osteosarcoma, Pinealoma, Leukemia	OMIM:180200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Muscular dystrophy, Increased variability in muscle fiber diameter	OMIM:616538
Primary Sjögren Syndrome	Decreased circulating complement C3 concentration, Normocytic anemia, Lymphadenopathy, Normochrom...	ORPHA:289390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Muscular dystrophy, Skeletal muscle hypertrophy, Congenital contracture, Increased variability in...	OMIM:613150
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Liver abscess, Cholangitis, Recurrent tonsillitis, Lymphoma, Viral hepatitis, Decreased specific ...	ORPHA:183675
Ebola Hemorrhagic Fever	Increased circulating antibody level, Acute pancreatitis, Thrombocytopenia, Leukopenia, Lymphopen...	ORPHA:319218
Cockayne Syndrome Type 1	Optic atrophy, Anemia, Cutaneous photosensitivity, Absent brainstem auditory responses, Cryptorch...	ORPHA:90321
Relapsing Polychondritis	Myocarditis, Large vessel vasculitis, Recurrent aphthous stomatitis, Inflammatory abnormality of ...	ORPHA:728
Biotinidase Deficiency	Recurrent candida infections, Skin rash, Eczematoid dermatitis, Hyperammonemia, Recurrent viral i...	ORPHA:79241
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Osteolysis	ORPHA:35687
Frontonasal Dysplasia 2	Low-set ears, Bilateral cryptorchidism, Sparse eyelashes, Sparse eyebrow, Sparse hair, Alopecia t...	OMIM:613451
Adrenocortical Carcinoma	Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Increased b...	ORPHA:1501
Autosomal Dominant Polycystic Kidney Disease	Aortic root aneurysm, Pituitary growth hormone cell adenoma, Polycystic liver disease, Reduced sp...	ORPHA:730
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Anemia, Aplasia/Hypoplasia of the earlobes, Sensorineural hearing impairment, Low-set ears, Dry s...	ORPHA:2637
Koolen-De Vries Syndrome	Abnormality of hair texture, Anteverted ears, Dry skin, Macrotia, Cryptorchidism, Overfolded heli...	OMIM:610443
Ritscher-Schinzel Syndrome 4	Macrotia, Cryptorchidism, Curly hair	OMIM:619435
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Type 1 fibers relatively smaller than type 2 fibers, Facial palsy	OMIM:619424
Aplasia Cutis Congenita	Aplasia cutis congenita over the scalp vertex, Skin ulcer, Aplasia cutis congenita, Congenital lo...	ORPHA:1114
Autosomal Recessive Malignant Osteopetrosis	Anemia, Lymphadenopathy, Optic nerve compression, Abnormality of hair texture, Hearing impairment...	ORPHA:667
Fanconi Anemia, Complementation Group I	Chromosomal breakage induced by crosslinking agents	OMIM:609053
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Hirschsprung Disease	Neoplasm of the thyroid gland, Intestinal polyposis, Weight loss, Failure to thrive in infancy	ORPHA:388
Dubowitz Syndrome	Hypoparathyroidism, Anemia, Low-set, posteriorly rotated ears, Cutaneous photosensitivity, Abnorm...	ORPHA:235
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Pancytopenia, Impaired T cell function, Th...	OMIM:614576
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy, Carcinoid tumor, Atypical pulmonary carcinoi...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy, Carcinoid tumor, Atypical pulmonary carcinoi...	ORPHA:100082
Digeorge Syndrome	Right aortic arch with mirror image branching, Ovarian cyst, Splenomegaly, Abnormal thymus morpho...	OMIM:188400
Viss Syndrome	Exostosis of the external auditory canal, Increased circulating IgG level, Increased circulating ...	OMIM:619472
Erythrocytosis, Familial, 2	Increased red blood cell mass, Stroke, Failure to thrive, Increased circulating hemoglobin concen...	OMIM:263400
Chronic Hiccup	Weight loss	ORPHA:396
Pseudoxanthoma Elasticum	Excessive wrinkled skin, Hypothyroidism, Lack of skin elasticity, Telangiectasia of the skin, Bru...	ORPHA:758
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Anemia, White hair, Agammaglobulinemia, Lymphopenia, Fine hair, Abnormality of the pancreas	ORPHA:935
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Anemia, Schistocytosis, Long eyelashes, Leukopenia, Thrombocytopenia, Lymphopenia, Hemolytic anem...	OMIM:301110
Fraser Syndrome 2	Hypoplasia of the thymus	OMIM:617666
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Osteomyelitis leading to amputation due to slow healing fractures, Hepatocellular carcinoma, Asci...	OMIM:256810
Leukocyte Adhesion Deficiency	Perianal abscess, Nail dystrophy, Severe periodontitis, Sinusitis, Nasolacrimal sac granuloma, Ch...	ORPHA:2968
Hereditary Elliptocytosis	Postnatal growth retardation, Skin ulcer, Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytos...	ORPHA:288
Trichohepatoneurodevelopmental Syndrome	Recurrent otitis media, Cholelithiasis, Thoracic hypertrichosis, Hypoplastic nipples, Low-set ear...	OMIM:618268
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Seborrheic dermatitis, Ascites, Aspiration pneumonia, Splenomegaly	OMIM:301072
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly	OMIM:619183
Fanconi Anemia, Complementation Group Q	Chromosome breakage	OMIM:615272
Xeroderma Pigmentosum, Complementation Group A	Ectropion, Entropion, Keratitis, Conjunctivitis, Telangiectasia	OMIM:278700
Scalp-Ear-Nipple Syndrome	Nail dysplasia, Breast aplasia, Cutaneous photosensitivity, Small earlobe, Microtia, Underdevelop...	OMIM:181270
Gaucher Disease Type 3	Increased bone mineral density, Osteolysis, Increased susceptibility to fractures	ORPHA:77261
Graves Disease	Increased circulating free T3, Decreased thyroid-stimulating hormone level, Graves disease, Onych...	OMIM:275000
Noonan Syndrome With Multiple Lentigines	Excessive wrinkled skin, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Sev...	ORPHA:500
Systemic Lupus Erythematosus	Decreased circulating complement C3 concentration, Lymphadenopathy, Leukopenia, Thrombocytopenia,...	ORPHA:536
Ciliary Dyskinesia, Primary, 22	Absent inner and outer dynein arms, Infertility, Reduced sperm motility	OMIM:615444
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Trisomy 18	Cachexia, Abnormal toenail morphology, Cryptorchidism	ORPHA:3380
S-Adenosylhomocysteine Hydrolase Deficiency	Abnormality of hair texture	ORPHA:88618
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Sepsis, Thick hair, Telecanthus, Long eyelashes, Decreased circulating IgG level, Increased circu...	ORPHA:505248
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density	OMIM:259900
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Delayed puberty, Xanthelasma, Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Anemia, Increas...	ORPHA:79259
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Defective T cell proliferation, Perianal abscess, Increased circulating IgG level, Increased circ...	OMIM:618213
Fanconi Anemia, Complementation Group C	Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia, Epicanthus, Chromosomal brea...	OMIM:227645
Late-Infantile/Juvenile Krabbe Disease	Abnormality of visual evoked potentials, EEG with persistent abnormal rhythmic activity, Delayed ...	ORPHA:206443
Autosomal Dominant Kenny-Caffey Syndrome	Decreased testicular size, Abnormal circulating follicle-stimulating hormone concentration, Anemi...	ORPHA:93325
Myopathy, Mitochondrial, And Ataxia	Increased variability in muscle fiber diameter, Distal amyotrophy	OMIM:617675
Non-Acquired Panhypopituitarism	Abnormality of secondary sexual hair, Delayed puberty, Absence of secondary sex characteristics, ...	ORPHA:90695
Isaacs Syndrome	Weight loss	ORPHA:84142
Adams-Oliver Syndrome 2	Small nail, Polymicrogyria, Low anterior hairline, Aplasia cutis congenita, Alopecia	OMIM:614219
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Decreased nerve conduction velocity, Cutaneous photosensitivity, Sensorineural hea...	OMIM:610651
Fanconi Anemia, Complementation Group L	Chromosome breakage, Upslanted palpebral fissure, Chromosomal breakage induced by crosslinking ag...	OMIM:614083
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Recurrent pharyngitis, Myositis, Arthritis, Skin rash, Vasculitis, Pericarditis, Erysipelas, Orch...	ORPHA:32960
Combined Immunodeficiency Due To Crac Channel Dysfunction	Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Acquired Generalized Lipodystrophy	Hyperinsulinemia, Generalized hirsutism, Insulin-resistant diabetes mellitus, Polycystic ovaries,...	ORPHA:79086
Fanconi Anemia, Complementation Group B	Abnormality of chromosome stability	OMIM:300514
Desmosterolosis	Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contracture of the hand	OMIM:602398
Granulomatosis With Polyangiitis	Chronic otitis media, Localized pulmonary hemorrhage, Retinal hemorrhage, Episcleritis, Sinusitis...	OMIM:608710
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis	OMIM:241410
Lymphatic Malformation 13	Lymphedema, Ascites, Hemangioma, Nonimmune hydrops fetalis, Cavernous hemangioma	OMIM:620244
Mixed Connective Tissue Disease	Mediastinal lymphadenopathy, Lymphadenopathy, Leukopenia, Splenomegaly, Hemolytic anemia	ORPHA:809
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Septate vagina, Pseudopapilledema	OMIM:146255
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Keutel Syndrome	Pulmonary artery stenosis, Short stature, Dermal atrophy, Alopecia	ORPHA:85202
Cowden Syndrome	Lipoma, Neoplasm of the skin, Neoplasm, Neoplasm of the central nervous system, Adenoma sebaceum,...	ORPHA:201
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Curly hair	OMIM:300986
Hallermann-Streiff Syndrome	Abnormality of hair texture, Hypothyroidism, Sparse eyelashes, Sparse body hair, Sparse eyebrow, ...	ORPHA:2108
Gm1 Gangliosidosis	Hirsutism, Failure to thrive, Generalized hirsutism, Splenomegaly, Hepatosplenomegaly, Weight loss	ORPHA:354
Mucopolysaccharidosis, Type Iiid	Recurrent otitis media, Facial hirsutism, Hirsutism, Low-set ears, Synophrys, Hearing impairment,...	OMIM:252940
Milroy Disease	Angiosarcoma, Neoplasm of the skin, Toenail dysplasia, Hydrocele testis	ORPHA:79452
Psoriasis-Related Juvenile Idiopathic Arthritis	Iritis, Malar rash, Skin rash, Oligoarthritis, Sacroiliac arthritis, Enthesitis, Iridocyclitis, A...	ORPHA:85436
Genitopatellar Syndrome	Low-set ears, Sparse scalp hair, Hearing impairment, Fine hair, Cryptorchidism	ORPHA:85201
Adult Krabbe Disease	Delayed brainstem auditory evoked response conduction time, EEG abnormality, Erectile dysfunction	ORPHA:206448
Hyperkeratosis Lenticularis Perstans	Skin ulcer, Aplasia/Hypoplasia of the skin, Papule	ORPHA:409
Johanson-Blizzard Syndrome	Hepatomegaly, Conjunctival icterus, Hypocalcemia, Abnormality of the nail, Hypoplastic nipples, S...	OMIM:243800
Proteasome-Associated Autoinflammatory Syndrome 1	Premature graying of hair, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increas...	OMIM:256040
Biliary, Renal, Neurologic, And Skeletal Syndrome	Elevated circulating creatinine concentration, Polyhydramnios, Recurrent lower respiratory tract ...	OMIM:619534
Takayasu Arteritis	Anemia, Weight loss	ORPHA:3287
Hermansky-Pudlak Syndrome	Basal cell carcinoma, Hypopigmentation of hair, Squamous cell carcinoma of the skin, Long eyelash...	ORPHA:79430
Ciliary Dyskinesia, Primary, 15	Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia	OMIM:613808
Lymphedema-Distichiasis Syndrome	Ectropion, Yellow nails, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Distichias...	OMIM:153400
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Thyroiditis, Incre...	ORPHA:79078
Barber-Say Syndrome	Sparse or absent eyelashes, Breast aplasia, Hypoplastic nipples, Aplasia/Hypoplasia of the skin, ...	ORPHA:1231
Leukodystrophy, Hypomyelinating, 5	Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ...	OMIM:610532
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Cachexia, Slender build, Weight loss	OMIM:603041
Familial Cutaneous Collagenoma	Abnormality of skin pigmentation	ORPHA:53296
Systemic-Onset Juvenile Idiopathic Arthritis	Lymphadenopathy, Splenomegaly	ORPHA:85414
Genitourinary And/Or Brain Malformation Syndrome	Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Polymicrogyria, Urogenital sinus anomaly, ...	OMIM:618820
Cardiofaciocutaneous Syndrome 1	Optic nerve dysplasia, Slow-growing hair, Absent eyelashes, Low-set ears, Low posterior hairline,...	OMIM:115150
Lumbar Syndrome	Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl...	ORPHA:83628
Fanconi Anemia, Complementation Group F	Pneumonia, Polyhydramnios, Chromosomal breakage induced by crosslinking agents	OMIM:603467
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Nail dysplasia, Delayed puberty, Anemia, Milia, Decreased body weight, Absent toenail, Failure to...	ORPHA:89842
Staphylococcal Necrotizing Pneumonia	Leukocytosis, Increased circulating procalcitonin concentration, Neutrophilia, Leukopenia, Diabet...	ORPHA:36238
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Anemia, Increased circulating antibody level, Pancytopenia, Hepatitis, Hypothyroidi...	OMIM:615846
Multiple Endocrine Neoplasia Type 1	Confetti-like hypopigmented macules, Adrenocortical abnormality, Neoplasm of the pancreas, Pheoch...	ORPHA:652
Pseudohypoparathyroidism Type 1A	Increased bone mineral density, Reduced bone mineral density, Ectopic ossification, Hyperostosis ...	ORPHA:79443
Gaucher Disease	Osteopenia, Increased bone mineral density, Abnormal bone structure, Joint stiffness, Osteoarthri...	ORPHA:355
Hereditary Orotic Aciduria	Anemia, Splenomegaly, Impaired T cell function	ORPHA:30
Biotinidase Deficiency	Hepatomegaly, Seborrheic dermatitis, Skin rash, Hyperammonemia, Splenomegaly, Conjunctivitis, Rec...	OMIM:253260
Ménétrier Disease	Hypochromic microcytic anemia, Multiple gastric polyps, Weight loss, Stomach cancer	ORPHA:2494
Amoebiasis Due To Entamoeba Histolytica	Lung abscess, Liver abscess, Anemia, Leukocytosis, Weight loss	ORPHA:67
Epidermolysis Bullosa, Lethal Acantholytic	Absent fingernail, Neonatal death, Anonychia, Alopecia totalis, Alopecia universalis, Skin erosio...	OMIM:609638
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Synostosis of joints	ORPHA:50945
Mucopolysaccharidosis, Type Vii	Recurrent otitis media, Sensorineural hearing impairment, Hirsutism, Hearing impairment, Thick ey...	OMIM:253220
Oculodentodigital Dysplasia, Autosomal Recessive	Low-set ears, Sparse eyelashes, Sparse hair, Large earlobe, Fine hair	OMIM:257850
Oculopharyngodistal Myopathy	Weight loss	ORPHA:98897
Stiff Skin Syndrome	Short stature, Aplasia/Hypoplasia of the skin, Type II diabetes mellitus, Subcutaneous nodule	ORPHA:2833
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Thin skin, Molluscoid pseudotumors	OMIM:225400
Weaver Syndrome	Thin nail, Deep-set nails, Macrotia, Cutis laxa, Sparse hair, Fine hair, Cryptorchidism, Hydrocel...	OMIM:277590
Cockayne Syndrome Type 2	Cryptorchidism, Hearing impairment, Macrotia, Male hypogonadism, Progeroid facial appearance	ORPHA:90322
Foix-Alajouanine Syndrome	Arteriovenous fistula, Venous malformation, Female sexual dysfunction, Male sexual dysfunction	ORPHA:79093
Attenuated Familial Adenomatous Polyposis	Fibroma, Neoplasm of the stomach, Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the c...	ORPHA:220460
Dubowitz Syndrome	Aplastic anemia, Lymphoma, Sparse scalp hair, Sparse lateral eyebrow, Neuroblastoma, Acute lympho...	OMIM:223370
Fanconi Anemia, Complementation Group E	Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia, Chromosomal breakage induced...	OMIM:600901
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Lymphadenopathy, Small intestine carcinoid, Zollinger-Ellison syndrome, E...	ORPHA:100078
Addison Disease	Delayed puberty, Normocytic anemia, Primary testicular failure, Hypoparathyroidism, Adrenal hypop...	ORPHA:85138
Osteogenesis Imperfecta	Osteopenia, Reduced bone mineral density, Abnormal cortical bone morphology, Fractures of the lon...	ORPHA:666
Hallermann-Streiff Syndrome	Low-set ears, Sparse scalp hair, Dry skin, Sparse eyelashes, Sparse eyebrow, Sparse hair, Optic d...	OMIM:234100
Glycogen Storage Disease Xii	Muscle fiber splitting, Increased variability in muscle fiber diameter, Myopathy	OMIM:611881
Ciliary Dyskinesia, Primary, 1	Asplenia	OMIM:244400
Huntington Disease-Like 2	Weight loss	OMIM:606438
Pseudohypoparathyroidism Type 1C	Increased bone mineral density, Ectopic ossification	ORPHA:79444
Spondyloocular Syndrome	Osteopenia, Femur fracture, Thin bony cortex	OMIM:605822
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Hypergonadotropic hypogonadism, Hypothyroidism, Failure to thrive, Decreased circul...	OMIM:212065
Noonan Syndrome 10	Low-set ears, Curly hair, Sparse eyebrow, Palmoplantar cutis laxa, Cryptorchidism	OMIM:616564
Congenital Disorder Of Glycosylation, Type Ig	Failure to thrive, Decreased circulating IgG level, Decreased circulating total IgM, Cryptorchidi...	OMIM:607143
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Increased circulating interleukin 6 concentration, Thrombocytosis, Iron deficie...	OMIM:301074
African Trypanosomiasis	Abnormality of renin-angiotensin system, Jaundice, Hepatomegaly, Lymphadenopathy, Erythematous ma...	ORPHA:3385
Fanconi Anemia, Complementation Group A	Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia, Chromosomal breakage induced...	OMIM:227650
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Abnormal salivary gland morphology, Mediastinal lymphadenopathy, Hepato...	OMIM:181000
Arthrogryposis, Distal, Type 2A	Hearing impairment, Cryptorchidism, Abnormal auditory evoked potentials	OMIM:193700
Faciocardiomelic Syndrome	Osteopenia, Thin bony cortex	OMIM:612731
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Poikilocytosis, Sideroblastic anemia,...	OMIM:301310
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Vascular dilatation, Aortic aneurysm, Atrophic scars, Arterial dissection, Aortic dissection, Wid...	ORPHA:1900
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Anemia, Broad eyebrow, Leukocytosis, Long eyelashes, Failure to thrive, Neutrophili...	ORPHA:99843
Weill-Marchesani Syndrome 1	Joint stiffness, Thin bony cortex	OMIM:277600
Herpes Simplex Virus Encephalitis	Neutrophilia, Leukocytosis	ORPHA:1930
Wrinkly Skin Syndrome	Excessive wrinkled skin, Excessive skin wrinkling on dorsum of hands and fingers, Prominent veins...	ORPHA:2834
Chondrodysplasia Punctata, Autosomal Dominant	Coarse hair, Sparse hair	OMIM:118650
Shigellosis	Myocarditis, Sepsis, Corneal ulceration, Acute colitis, Arthritis, Hypovolemic shock, Peritonitis...	ORPHA:810
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Hypothyroidism, Low anterior hairline, Dry hair	OMIM:618569
Waldenström Macroglobulinemia	Normocytic anemia, Lymphadenopathy, Splenomegaly, Monoclonal immunoglobulin M proteinemia, Abnorm...	ORPHA:33226
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Leukonychia, Panniculitis, Abnormal hair morphology, Chylothorax, Abnormal eyelash morphology, Ab...	ORPHA:2526
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Adult-Onset Autosomal Dominant Leukodystrophy	Erectile dysfunction, Orthostatic hypotension, Sensorineural hearing impairment, Abnormal auditor...	ORPHA:99027
Chédiak-Higashi Syndrome	Anemia, Increased proportion of CD25+ mast cells, Hemophagocytosis, Pancytopenia, Abnormal natura...	ORPHA:167
Fanconi Anemia, Complementation Group R	Chromosomal breakage induced by crosslinking agents	OMIM:617244
Rothmund-Thomson Syndrome Type 2	Finger symphalangism, Osteopenia, Abnormal trabecular bone morphology, Pathologic fracture, Synos...	ORPHA:221016
Mosaic Trisomy 9	Asplenia, Cryptorchidism, Abnormal liver lobulation, Small nail	ORPHA:99776
Huriez Syndrome	Abnormality of the nail, Aplasia/Hypoplasia of the skin, Small nail	ORPHA:384
Transketolase Deficiency	Cataract, Seborrheic dermatitis, Uveitis, Conjunctivitis	ORPHA:488618
Acute Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hemolytic anemia, Prolonge...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hemolytic anemia, Prolonge...	ORPHA:529808
Lateral Meningocele Syndrome	Low-set ears, Abnormality of the middle ear ossicles, Conductive hearing impairment, Posteriorly ...	OMIM:130720
Lysinuric Protein Intolerance	Anemia, Hemophagocytosis, Cutis laxa, Thrombocytopenia, Leukopenia, Splenomegaly, Sparse hair, Fi...	OMIM:222700
3-Hydroxy-3-Methylglutaric Aciduria	Jaundice, Anemia, Hepatomegaly, Acute pancreatitis, Leukocytosis, Leukopenia, Weight loss, Thromb...	ORPHA:20
Fanconi Anemia, Complementation Group D2	Deficient excision of UV-induced pyrimidine dimers in DNA, Blepharophimosis, Leukemia, Chromosoma...	OMIM:227646
Mucopolysaccharidosis Type 3	Chronic otitis media, Optic atrophy, Mixed hearing impairment, Recurrent tonsillitis, Thick hair,...	ORPHA:581
Sanjad-Sakati Syndrome	Patchy osteosclerosis	ORPHA:2323
Cutis Marmorata Telangiectatica Congenita	Arteriovenous malformation, Aplasia/Hypoplasia of the skin, Multiple cafe-au-lait spots, Cognitiv...	ORPHA:1556
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Fanconi Anemia, Complementation Group U	Chromosome breakage	OMIM:617247
Parathyroid Carcinoma	Fibroma, Parathyroid carcinoma, Thyroid carcinoma, Elevated circulating parathyroid hormone level...	ORPHA:143
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Right Atrial Isomerism	Abdominal situs ambiguus, Polysplenia, Asplenia	OMIM:208530
Mucolipidosis Type Ii	Sensorineural hearing impairment, White hair, Conductive hearing impairment, Hepatosplenomegaly, ...	ORPHA:576
Menkes Disease	Abnormal carotid artery morphology, Vascular dilatation, Hypopigmentation of hair, Venous insuffi...	ORPHA:565
Scrub Typhus	Lymphadenopathy, Splenomegaly	ORPHA:83317
Basal Cell Nevus Syndrome 2	Basal cell carcinoma, Medulloblastoma, Meningioma, Neurofibroma, Angiofibromas	OMIM:620343
Frank-Ter Haar Syndrome	Osteopenia, Camptodactyly, Cortical irregularity, Osteoporosis	OMIM:249420
Schinzel-Giedion Syndrome	Annular pancreas, Hypospadias, Generalized hypertrichosis, Central hypothyroidism, Hepatoblastoma...	ORPHA:798
Cerebellofaciodental Syndrome	Fine hair, Cryptorchidism, Low-set ears, Sparse eyebrow	OMIM:616202
Cerebrotendinous Xanthomatosis	Optic atrophy, Decreased nerve conduction velocity, Cholelithiasis, Prematurely aged appearance, ...	ORPHA:909
Beta-Ketothiolase Deficiency	Thrombocytosis, Leukocytosis, Weight loss, Hepatomegaly	ORPHA:134
Central Diabetes Insipidus	Failure to thrive, Weight loss, Diabetes insipidus	ORPHA:178029
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Esophageal neoplasm, Fibroma, Diffuse leiomyomatosis, Vaginal neoplasm, Failure to thrive, Trache...	ORPHA:1018
American Trypanosomiasis	Lymphadenopathy, Splenomegaly	ORPHA:3386
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Non-Functioning Paraganglioma	Paraganglioma, Weight loss, Paraganglioma of head and neck	ORPHA:94080
Listeriosis	Myocarditis, Unusual skin infection, Sepsis, Congestive heart failure, Pyelonephritis, Arteritis,...	ORPHA:533
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Low-set ears, Decreased testicular size, Sparse hair, Fine hair, Cryptorchidism	ORPHA:251028
Hereditary Central Diabetes Insipidus	Weight loss, Diabetes insipidus	ORPHA:30925
Dermatomyositis	Abnormality of the nail, Abnormal hair quantity, Abnormal eosinophil morphology, Breast carcinoma...	ORPHA:221
Oculodentodigital Dysplasia	Slow-growing hair, Abnormal pinna morphology, Conductive hearing impairment, Fragile nails, Spars...	OMIM:164200
Acute Radiation Syndrome	Thrombocytopenia, Granulocytopenia, Lymphopenia	ORPHA:454831
Cleidocranial Dysplasia 1	Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac...	OMIM:119600
Craniofrontonasal Syndrome	Breast hypoplasia, Ridged nail, Unilateral breast hypoplasia, Low posterior hairline, Curly hair,...	OMIM:304110
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Anasarca, Hepatomegaly, Ascites	OMIM:203700
Generalized Pseudohypoaldosteronism Type 1	Recurrent tonsillitis, Cholelithiasis, Glucocortocoid-insensitive primary hyperaldosteronism, Inc...	ORPHA:171876
Myotonic Dystrophy 2	Frontal balding, Decreased circulating IgG level, Elevated circulating follicle stimulating hormo...	OMIM:602668
Heterotaxy, Visceral, 2, Autosomal	Abdominal situs inversus, Polysplenia, Asplenia	OMIM:605376
Mayer-Rokitansky-Küster-Hauser Syndrome	Endometriosis, Aplasia of the uterus, Ectopic ovary, Hypoplasia of the vagina, Aplasia of the ovary	ORPHA:3109
Enlarged Parietal Foramina	Aplasia cutis congenita of scalp, Venous malformation, Abnormal cerebral vein morphology	ORPHA:60015
Sclerosteosis 1	Cortically dense long tubular bones, Sclerotic scapulae, Facial palsy secondary to cranial hypero...	OMIM:269500
Stevens-Johnson Syndrome	Sepsis, Gastrointestinal hemorrhage, Pancreatitis, Entropion, Corneal erosion, Conjunctivitis, Re...	ORPHA:36426
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Rhabdomyolysis, Flexion...	ORPHA:17
Classical-Like Ehlers-Danlos Syndrome Type 2	Sacral dimple, Webbed neck, Aortic root aneurysm, Prominent veins on trunk, Piezogenic pedal papu...	ORPHA:536532
Zollinger-Ellison Syndrome	Lipoma, Pituitary growth hormone cell adenoma, Pituitary corticotropic cell adenoma, Pituitary ad...	ORPHA:913
Familial Mediterranean Fever	Hepatomegaly, Leukocytosis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis	OMIM:249100
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Loose anagen hair, Low-set ears, Sparse scalp hair, Curly hair, Long eyelashes, Posteriorly rotat...	OMIM:607721
Renal Cysts And Diabetes Syndrome	Maturity-onset diabetes of the young, Elevated circulating hepatic transaminase concentration, Hy...	OMIM:137920
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Hypopigmentation of hair, Posteriorly rotated ears, Overfolded helix, Coarse hair, Wido...	ORPHA:1974
Monosomy 18Q	Bilateral cryptorchidism, Hypothyroidism, Astrocytoma, Slender build, Failure to thrive, Low ante...	ORPHA:1600
Niemann-Pick Disease Type C	Hydrops fetalis, Hepatomegaly, Ascites, Aspiration pneumonia, Hepatosplenomegaly, Splenomegaly, F...	ORPHA:646
Hajdu-Cheney Syndrome	Delayed puberty, Skin ulcer, Low-set ears, Dry skin, Synophrys, Hearing impairment, Abnormal fing...	ORPHA:955
Ciliary Dyskinesia, Primary, 5	Reduced sperm motility	OMIM:608647
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Mixed hearing impairment, Low-set, posteri...	ORPHA:444077
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Anemia, Hepatosplenomegaly, Lymphadenopathy, Weight loss	ORPHA:85408
Hypoadrenocorticism, Familial	Abnormality of skin pigmentation	OMIM:240200
Ciliary Dyskinesia With Defective Radial Spokes	Immotile sperm, Absent respiratory ciliary axoneme radial spokes	OMIM:242670
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Memory impairment, Subcortical dementia, Stroke, Vascular granular osmiophilic material depositio...	OMIM:125310
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Reduced sperm motility	OMIM:615434
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Alopecia of scalp, Weight loss	ORPHA:704
Al Amyloidosis	Abnormal salivary gland morphology, Anemia, Hepatomegaly, Increased circulating antibody level, H...	ORPHA:85443
Chime Syndrome	Acute leukemia, Skin ulcer, Hearing impairment, Sparse hair, Fine hair, Erythema	ORPHA:3474
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Thrombocytopenia, Vestibular areflexia, Hypochromic microcytic anemia, Absent brainstem auditory ...	ORPHA:3240
Weill-Marchesani Syndrome 2	Joint stiffness, Elbow flexion contracture, Flexion contracture of toe, Thin bony cortex	OMIM:608328
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Annular pancreas, Asplenia	ORPHA:210122
Giant Cell Arteritis	Mediastinal lymphadenopathy, Diabetes insipidus, Weight loss, Alopecia	ORPHA:397
Townes-Brocks Syndrome 2	Bifid uterus, Hypospadias, Rectovaginal fistula	OMIM:617466
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral...	ORPHA:168558
Curry-Jones Syndrome	Hypopigmented skin patches, Generalized hirsutism, Aplasia/Hypoplasia of the skin	ORPHA:1553
Cerebellar-Facial-Dental Syndrome	Low-set ears, Sparse eyebrow, Sparse hair, Fine hair, Cryptorchidism	ORPHA:444072
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral...	ORPHA:289548
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Periorbital dermoid cyst, Lacrimal duct stenosis, Conjunctivitis	OMIM:615560
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level, Lymphadenopathy	ORPHA:343
Hypercalcemia, Infantile, 1	Failure to thrive, Decreased circulating parathyroid hormone level, Weight loss	OMIM:143880
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia, Abnormality of the thyroid gland	ORPHA:1969
Huntington Disease	Decreased body mass index, Weight loss	ORPHA:399
Osteootohepatoenteric Syndrome	Anemia, Portal fibrosis, Microvesicular hepatic steatosis, Cholestasis, Failure to thrive, Prolon...	OMIM:619377
Cockayne Syndrome Type 3	Premature graying of hair, Cutaneous photosensitivity, Adult onset sensorineural hearing impairme...	ORPHA:90324
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating antibody level, Hepatomegaly, Decreased circulating IgA level, Long eyelashes	OMIM:606056
Lymphoid Interstitial Pneumonia	Failure to thrive, Hepatomegaly, Mediastinal lymphadenopathy, Weight loss	ORPHA:79128
Mandibuloacral Dysplasia With Type A Lipodystrophy	Postnatal growth retardation, Hepatomegaly, Hyperinsulinemia, Alopecia, Sparse scalp hair, Growth...	OMIM:248370
Craniotubular Dysplasia, Ikegawa Type	Sclerosis of skull base, Thin bony cortex	OMIM:619727
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss, Conjunctival hamartoma	ORPHA:312
Primary Hyperoxaluria	Generalized osteosclerosis, Recurrent fractures	ORPHA:416
Noonan Syndrome 2	Redundant neck skin, Low-set ears, Low posterior hairline, Curly hair, Acute lymphoblastic leukem...	OMIM:605275
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Congenital hypothyroidism, Precocious...	ORPHA:361
Toxic Epidermal Necrolysis	Sepsis, Gastrointestinal hemorrhage, Pancreatitis, Entropion, Corneal erosion, Conjunctivitis, Re...	ORPHA:537
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification, Weight loss	ORPHA:677
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hyperthyroid...	OMIM:613239
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla...	OMIM:202010
Microphthalmia With Linear Skin Defects Syndrome	Hypopigmented skin patches, Epispadias, Clitoral hypertrophy, Sacral dimple, Hypospadias, Abnorma...	ORPHA:2556
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Chand Syndrome	Nail dysplasia, Dry skin, Curly hair	ORPHA:1401
Saul-Wilson Syndrome	Neutropenia, Sensorineural hearing impairment, Hearing impairment, Prominent superficial veins, P...	OMIM:618150
Combined Pituitary Hormone Deficiencies, Genetic Forms	Abnormality of secondary sexual hair, Delayed puberty, Absence of secondary sex characteristics, ...	ORPHA:95494
Isolated Succinate-Coq Reductase Deficiency	Weight loss	ORPHA:3208
Hyperparathyroidism-Jaw Tumor Syndrome	Fibroma, Thyroid carcinoma, Elevated circulating parathyroid hormone level, Pancreatitis, Lipoma,...	ORPHA:99880
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Rat-Bite Fever	Pancreatitis, Anemia, Parotitis, Lymphadenitis, Weight loss	ORPHA:31205
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Splenomegaly, Impaired T cell function	OMIM:201100
Charcot-Marie-Tooth Disease Type 1F	Sensorineural hearing impairment, Optic nerve hypoplasia, Decreased nerve conduction velocity, Ab...	ORPHA:101085
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Anemia, Weight loss	ORPHA:324964
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Highly arched eyebrow, Hypoplastic nipples, Dry skin, Sparse lateral eyebrow, Conductive hearing ...	OMIM:280000
Leukodystrophy, Hypomyelinating, 13	Optic atrophy, Delayed brainstem auditory evoked response conduction time	OMIM:616881
Noonan Syndrome 1	Juvenile myelomonocytic leukemia, Male infertility, Amegakaryocytic thrombocytopenia, Sensorineur...	OMIM:163950
Scleromyxedema	Generalized abnormality of skin, Abnormality of central nervous system electrophysiology, Aged le...	ORPHA:167635
Tuberous Sclerosis Complex	Retinal hamartoma, Cardiac rhabdomyoma, Pancreatic endocrine tumor, Subependymal nodules, Pheochr...	ORPHA:805
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hilar lymph node enlargement, Mediastinal lymphadenopathy, Leukocytosis	OMIM:620233
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Cryptorchidism, Progeroid facial appearance	OMIM:300578
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Acute Adrenal Insufficiency	Delayed puberty, Normocytic anemia, Adrenal hypoplasia, Androgen insufficiency, Increased circula...	ORPHA:95409
Marburg Hemorrhagic Fever	Jaundice, Pancreatitis, Lymphadenopathy, Increased circulating antibody level, Neutrophilia in pr...	ORPHA:99826
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Cholelithiasis, B lymphocytopenia, Pancreatic hypoplasia, Biliary hyperplasia, Fail...	ORPHA:83617
Graft Versus Host Disease	Lymphadenopathy, Hepatosplenomegaly, Hemophagocytosis	ORPHA:39812
Pseudoaminopterin Syndrome	Highly arched eyebrow, Sparse scalp hair, Asplenia, Frontal upsweep of hair, Cryptorchidism	ORPHA:221120
Ataxia-Telangiectasia-Like Disorder 2	Cutaneous telangiectasia, Cutaneous photosensitivity, Sensorineural hearing impairment, Conjuncti...	OMIM:615919
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Postnatal growth retardation, Sacral dimple, Toenail dysplasia, Hirsutism, Intrauterine growth re...	OMIM:300966
Orofaciodigital Syndrome I	Low-set ears, Hearing impairment, Ovarian cyst, Sparse hair, Pancreatic cysts, Dry hair, Alopecia	OMIM:311200
D-Bifunctional Protein Deficiency	Increased circulating very long-chain fatty acid concentration, Polyhydramnios, Hepatomegaly, Spl...	OMIM:261515
Occipital Horn Syndrome	Orthostatic hypotension, Redundant skin, Bruising susceptibility, Pili torti, Coarse hair	OMIM:304150
Cap Polyposis	Weight loss, Colorectal polyposis	ORPHA:160148
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424019
Heterotaxy, Visceral, 1, X-Linked	Abdominal situs inversus, Hepatomegaly, Biliary atresia, Asplenia, Failure to thrive, Hypoplastic...	OMIM:306955
Cutis Laxa, Autosomal Dominant 1	Prematurely aged appearance, Redundant skin, Cutis laxa, Poor wound healing, Progeroid facial app...	OMIM:123700
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Asplenia	OMIM:619657
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Chronic otitis media, Scaling skin, Small pituitary gland, Thyroid hypoplasia, Cutis laxa, EEG ab...	OMIM:619503
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Abnormality of hair texture, Synophrys, Thick eyebrow, Hypoplastic sweat glands, EEG abnormality	ORPHA:73223
Campomelia, Cumming Type	Prematurely aged appearance, Pancreatic cysts	ORPHA:1318
Feingold Syndrome 1	Asplenia, Annular pancreas, Polysplenia, Accessory spleen	OMIM:164280
Reynolds Syndrome	Jaundice, Hepatomegaly, Cholestasis, Biliary cirrhosis, Splenomegaly, Lymphopenia	OMIM:613471
Porphyria, Congenital Erythropoietic	Hepatomegaly, Loss of eyelashes, Absent eyebrow, Elevated circulating uroporphyrin concentration,...	OMIM:263700
Malignant Atrophic Papulosis	Ischemic stroke, Arteritis, Papule, Peritonitis, Weight loss, Dermal atrophy	ORPHA:679
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Patent ductus arteriosus, Distichiasis, Peripheral arterial stenosis	OMIM:126320
Trisomy 10P	Low voltage EEG, EEG with focal spikes, Abnormal auditory evoked potentials, Low-set ears, Macrot...	ORPHA:171929
Marfan Syndrome	Cachexia, Slender build	ORPHA:558
Secondary Short Bowel Syndrome	Primary hypothyroidism, Cholestasis, Central hypothyroidism, Failure to thrive, Weight loss	ORPHA:95427
Hereditary Pheochromocytoma-Paraganglioma	Arachnoid hemangiomatosis, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Retinal capil...	ORPHA:29072
Distal Deletion 12Q	Annular pancreas, Maturity-onset diabetes of the young, Small nail, Prominent ear helix, Microtia...	ORPHA:96149
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Goiter, Hyperthyroidism, Weight loss	OMIM:188580
Generalized Arterial Calcification Of Infancy	Hydrops fetalis, Hypophosphatemic rickets, Polyhydramnios, Ascites, Pericardial effusion, Edema	ORPHA:51608
Branchiooculofacial Syndrome	Premature graying of hair, Supraauricular pit, Postnatal growth retardation, Hypoplastic fingerna...	OMIM:113620
Polymyositis	Hepatomegaly, Weight loss, Breast carcinoma	ORPHA:732
Perry Syndrome	Weight loss	ORPHA:178509
Glomuvenous Malformation	Localized skin lesion, Arteriovenous malformation, Gastrointestinal arteriovenous malformation, V...	ORPHA:83454
Primrose Syndrome	Dystrophic fingernails, Sparse scalp hair, Bilateral cryptorchidism, Synophrys, Cryptorchidism, S...	OMIM:259050
Sporadic Pheochromocytoma/Secreting Paraganglioma	Adrenal pheochromocytoma, Paraganglioma of head and neck, Paraganglioma, Weight loss, Extraadrena...	ORPHA:276621
Oculocerebrorenal Syndrome Of Lowe	Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Chronic...	ORPHA:534
Loeys-Dietz Syndrome 6	Arterial tortuosity, Vertebral artery aneurysm, Striae distensae, Transient ischemic attack, Aort...	OMIM:619656
Meckel Syndrome	Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Cystic liver diseas...	ORPHA:564
Costello Syndrome	Redundant neck skin, Lymphangiectasis, Thin nail, Low-set ears, Curly hair, Deep-set nails, Fragi...	OMIM:218040
Oculoectodermal Syndrome	Epidermal nevus, Transient ischemic attack, Preauricular skin tag, Growth delay, Coarctation of a...	OMIM:600268
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Aspartylglucosaminuria	Joint stiffness, Arthritis, Abnormal cortical bone morphology	ORPHA:93
Norrie Disease	Delayed puberty, Cachexia, Neoplasm of the eye, Cryptorchidism, Failure to thrive, Diabetes melli...	ORPHA:649
Coffin-Lowry Syndrome	Hyperconvex fingernails, Highly arched eyebrow, Sensorineural hearing impairment, Hearing impairm...	OMIM:303600
Okur-Chung Neurodevelopmental Syndrome	Highly arched eyebrow, Decreased circulating antibody level, Synophrys, Failure to thrive, Decrea...	OMIM:617062
Occipital Horn Syndrome	Jaundice, Vascular dilatation, Thick hair, Venous insufficiency, Cholestasis, Atypical scarring o...	ORPHA:198
Oeis Complex	Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl...	OMIM:258040
Focal Myositis	Weight loss	ORPHA:48918
Congenital Syphilis	Anemia, Lymphadenopathy, Thrombocytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis	ORPHA:499009
Aicardi Syndrome	Lipoma, Carcinoma, Metastatic angiosarcoma, Teratoma, Sparse lateral eyebrow, Hemangioma, Precoci...	OMIM:304050
Tropical Pancreatitis	Jaundice, Maternal diabetes, Abnormal pancreatic duct morphology, Pancreatic calcification, Weigh...	ORPHA:103918
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Short stature, Chordee, A...	OMIM:309801
Pontocerebellar Hypoplasia Type 7	Optic atrophy, Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of th...	ORPHA:284339
Leptospirosis	Optic neuritis, Skin rash, Meningitis, Hypotension, Retinal hemorrhage, Pericarditis, Conjunctiva...	ORPHA:509
Ehlers-Danlos Syndrome, Vascular Type	Alopecia of scalp, Anemia, Molluscoid pseudotumors, Cervical insufficiency, Cigarette-paper scars...	OMIM:130050
Epilepsy-Telangiectasia Syndrome	Decreased circulating antibody level, Decreased circulating IgA level	ORPHA:1951
Williams Syndrome	Osteopenia, Increased bone mineral density, Synostosis of joints, Osteoporosis, Joint stiffness, ...	ORPHA:904
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Vascular dilatation, Polymicrogyria, Atrophic scars, Aortic dissection, Atypical scarring of skin...	OMIM:618343
Toriello-Lacassie-Droste Syndrome	Epispadias, Hypospadias, Aplasia/Hypoplasia of the skin, Growth delay, Failure to thrive, Abnorma...	ORPHA:3339
Stickler Syndrome	Cachexia, Slender build	ORPHA:828
Meckel Syndrome, Type 1	Accessory spleen, Adrenal hypoplasia, Bile duct proliferation, Asplenia, Splenomegaly, Cryptorchi...	OMIM:249000
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Uterus didelphys, Septate vagina, Aplasia of the uterus, Vaginal atresia	ORPHA:2237
Branchioskeletogenital Syndrome	Mixed hearing impairment, Highly arched eyebrow, Attached earlobe, Periorbital wrinkles, Absent n...	ORPHA:1299
Glossopharyngeal Neuralgia	Weight loss, Schwannoma, Neoplasm	ORPHA:221098
Myhre Syndrome	Microtia, Low-set ears, Hearing impairment, Thick eyebrow, Sparse hair, Fine hair, Cryptorchidism	OMIM:139210
Cystinosis, Nephropathic	Delayed puberty, Male hypogonadism, Hepatomegaly, Hypopigmentation of hair, Primary hypothyroidis...	OMIM:219800
Loeys-Dietz Syndrome 4	Arterial tortuosity, Aortic root aneurysm, Ascending tubular aorta aneurysm, Aortic tortuosity, A...	OMIM:614816
Scimitar Syndrome	Partial anomalous pulmonary venous return, Descending aorta hypoplasia, Anomalous origin of left ...	ORPHA:185
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Bruising susceptibility, Progeroid facial appearance	OMIM:616914
Alström Syndrome	Elevated circulating hepatic transaminase concentration, Precocious puberty in females, Primary h...	ORPHA:64
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Precocious puberty, Obesity, Decreased circulating total IgM, Decreased circu...	ORPHA:369837
Bullous Pemphigoid	Diabetes mellitus, Weight loss	ORPHA:703
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Interstitial Cystitis	Abnormal labia morphology, Dyspareunia, Abnormality of the menstrual cycle, Abnormal vagina morph...	ORPHA:37202
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Pemphigus Erythematosus	Hypopigmented skin patches, Localized skin lesion, Focal dermal aplasia/hypoplasia, Erythematous ...	ORPHA:79480
Coffin-Siris Syndrome 1	Lumbosacral hirsutism, Abnormal pinna morphology, Low-set ears, Sparse scalp hair, Long eyelashes...	OMIM:135900
Schinzel-Giedion Midface Retraction Syndrome	Sclerosis of skull base, Increased density of long bones, Thickened cortex of long bones	OMIM:269150
De Sanctis-Cacchione Syndrome	Hypermelanotic macule, Bilateral cryptorchidism, Dermal atrophy, Severe short stature, Gonadal hy...	OMIM:278800
Osteosarcoma	Weight loss	ORPHA:668
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Weight loss, Goiter, Activating thyroid-stim...	ORPHA:424
Faundes-Banka Syndrome	Broad eyebrow, Hypoplasia of the lower eyelids, Sparse scalp hair, Long palpebral fissure, Downsl...	OMIM:619376
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss	ORPHA:216866
Melnick-Needles Syndrome	Frontal hirsutism, Macrotia, Recurrent otitis media, Coarse hair	OMIM:309350
Wild Type Attr Amyloidosis	Hepatomegaly, Weight loss	ORPHA:330001
Carney-Stratakis Syndrome	Weight loss, Paraganglioma, Gastrointestinal stroma tumor	ORPHA:97286
Polyarteritis Nodosa	Weight loss	ORPHA:767
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Zttk Syndrome	Optic atrophy, Protruding ear, Broad eyebrow, Low-set ears, Curly hair, Sparse eyebrow, Absent ga...	OMIM:617140
Microphthalmia With Limb Anomalies	Venous insufficiency, Short stature, Failure to thrive, Abnormal eyebrow morphology, Cryptorchidism	ORPHA:1106
Camptodactyly Syndrome, Guadalajara Type 3	Thickened cortex of long bones, Osteopenia	ORPHA:488434
Behçet Disease	Pancreatitis, Lymphadenopathy, Orchitis, Splenomegaly, Weight loss	ORPHA:117
Congenital Tufting Enteropathy	Cholestatic liver disease, Failure to thrive, Weight loss	ORPHA:92050
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Tetraamelia Syndrome 1	Adrenal gland agenesis, Asplenia	OMIM:273395
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Microtia, Low-set ears, Sparse scalp hair, Dry skin, Sparse eyelashes, Prolonged neonatal jaundic...	OMIM:210710
Autosomal Dominant Spastic Paraplegia Type 10	Varicose veins, Cognitive impairment	ORPHA:100991
Kindler Epidermolysis Bullosa	Anemia, Milia, Phimosis, Aplasia/Hypoplasia of the skin, Abnormal toenail morphology, Atypical sc...	ORPHA:2908
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina	OMIM:271520
Osteopetrosis With Renal Tubular Acidosis	Osteopetrosis, Recurrent fractures	ORPHA:2785
Heterotaxy, Visceral, 5, Autosomal	Abdominal situs ambiguus, Abdominal situs inversus, Asplenia	OMIM:270100
8P23.1 Microdeletion Syndrome	Obesity, Cryptorchidism, Weight loss	ORPHA:251071
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM, Annular pancreas, Decreased serum insulin-like growth factor 1	OMIM:618162
Meckel Syndrome 14	Ambiguous genitalia, Aplasia of the uterus	OMIM:619879
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Annular pancreas, Pulmonary lymphangiectasia, Asplenia	OMIM:265380
Perry Syndrome	Weight loss	OMIM:168605
Mend Syndrome	Low-set ears, Cryptorchidism, Abnormal auditory evoked potentials	ORPHA:401973
Familial Gestational Hyperthyroidism	Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Weight loss, Goiter, Activating thyroid-stim...	ORPHA:99819
Gitelman Syndrome	Delayed puberty, Neoplasm of the pancreas, Maternal diabetes, Iron deficiency anemia, Graves dise...	ORPHA:358
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus	ORPHA:3320
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Spinal neurofibroma, Granuloma, Hemangioma, Optic nerve glioma, Schwannoma, Subcutaneous neurofib...	ORPHA:363700
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Optic nerve hypoplasia, Aplasia of the uterus, Aplasia of the vagina	ORPHA:457284
Yellow Fever	Jaundice, Increased circulating interleukin 6 concentration, Acute pancreatitis, Leukocytosis, In...	ORPHA:99829
Igg4-Related Retroperitoneal Fibrosis	Hashimoto thyroiditis, Normocytic anemia, Weight loss, Hydrocele testis	ORPHA:49041
Granulomatosis With Polyangiitis	Pancreatitis, Diabetes insipidus, Abnormality of the hypothalamus-pituitary axis, Weight loss, Gr...	ORPHA:900
Classical Ehlers-Danlos Syndrome	Orthostatic hypotension, Prematurely aged appearance, Fragile skin, Ecchymosis, Acrocyanosis, Bru...	ORPHA:287
Linear Skin Defects With Multiple Congenital Anomalies 3	Failure to thrive, Thyroid C cell hyperplasia, Asymmetric, linear skin defects	OMIM:300952
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, High anterior hairline, Medial flaring of ...	OMIM:613406
Oromandibular Dystonia	Weight loss	ORPHA:93958
Niemann-Pick Disease, Type C2	Fetal ascites, Polyhydramnios, Splenomegaly, Hepatomegaly	OMIM:607625
Thoracic Outlet Syndrome	Varicose veins	ORPHA:97330
Postinfectious Vasculitis	Increased circulating antibody level, Increased circulating IgA level, Viral hepatitis, Cryoglobu...	ORPHA:48435
Pancreatic Triacylglycerol Lipase Deficiency	Exocrine pancreatic insufficiency, Iron deficiency anemia, Weight loss	ORPHA:309031
Fatal Familial Insomnia	Weight loss	OMIM:600072
Lacrimoauriculodentodigital Syndrome 1	Recurrent corneal erosions, Lacrimal gland aplasia, Hypoplasia of the lacrimal punctum, Telecanth...	OMIM:149730
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
Acquired Central Diabetes Insipidus	Weight loss, Diabetes insipidus	ORPHA:95626
Niemann-Pick Disease, Type C1	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:257220
Rheumatoid Arthritis	Weight loss	OMIM:180300
Phocomelia, Schinzel Type	Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis	ORPHA:2879
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Delayed puberty, Low-set, posteriorly rotated ears, Cyst of the ductus choledochus, Hypoplastic n...	ORPHA:480880
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Optic atrophy, Protruding ear, Broad lateral eyebrow, Optic nerve hypoplasia, Low-set ears, Curly...	ORPHA:500150
Loeys-Dietz Syndrome 3	Dilatation of the cerebral artery, Arterial tortuosity, Striae distensae, Aortic aneurysm, Atroph...	OMIM:613795
Varicose Veins	Varicose veins	OMIM:192200
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Bifid uterus, Abnormal reproductive system morphology	ORPHA:1521
Thyrotoxic Periodic Paralysis	Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goiter, Thyrotoxicos...	ORPHA:79102
Choreoacanthocytosis	Hepatomegaly, Abnormal erythrocyte enzyme concentration or activity, Splenomegaly, Weight loss, A...	ORPHA:2388
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Normochromic anemia,...	ORPHA:91500
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Juvenile Dermatomyositis	Weight loss, Alopecia	ORPHA:93672
Thauvin-Robinet-Faivre Syndrome	Large for gestational age, Varicose veins, Transient neutropenia	OMIM:617107
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Varicose veins, Venous malformation	OMIM:613089
Cardiac-Urogenital Syndrome	Penoscrotal hypospadias, Aplasia of the uterus, Bifid scrotum, Unilateral cryptorchidism, Ambiguo...	OMIM:618280
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal jugular vein morphology, Abnormal vena cava morphology, Atrial septal dila...	ORPHA:1677
Keppen-Lubinsky Syndrome	Lack of facial subcutaneous fat, Decreased serum leptin, Progeroid facial appearance	OMIM:614098
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Large for gestational age, Varicose veins, Chronic neutropenia, Transient neutropenia	ORPHA:500095
Isolated Permanent Neonatal Diabetes Mellitus	Pancreatic hypoplasia, Failure to thrive, Reduced pancreatic beta cells, Weight loss, Neonatal in...	ORPHA:99885
Exstrophy-Epispadias Complex	Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Bifid uterus, Cy...	ORPHA:322
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad eyebrow, Decreased circulating antibody level, Asplenia, Failure to thrive, Cryptorchidism,...	ORPHA:261537
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Mowat-Wilson Syndrome	Broad eyebrow, Decreased circulating antibody level, Decreased body weight, Asplenia, Horizontal ...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Broad eyebrow, Highly arched eyebrow, Decreased circulating antibody level, Asplenia, Failure to ...	ORPHA:261552
Baller-Gerold Syndrome	Anomalous splenoportal venous system, Rectovaginal fistula, Polymicrogyria, Perineal fistula, Sev...	OMIM:218600
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Kindler Syndrome	Ridged nail, Diffuse skin atrophy, Phimosis, Dermal atrophy, Spotty hypopigmentation	OMIM:173650
Velocardiofacial Syndrome	Impaired T cell function	OMIM:192430
Hereditary Late-Onset Parkinson Disease	Weight loss	ORPHA:411602
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Blau Syndrome	Lymphadenopathy, Anemia, Splenomegaly	ORPHA:90340
Pulmonary Alveolar Microlithiasis	Testicular microlithiasis, Hepatomegaly, Weight loss	ORPHA:60025
Congenital Fiber-Type Disproportion Myopathy	Failure to thrive, Weight loss	ORPHA:2020
Wolf-Hirschhorn Syndrome	Precocious puberty, Cryptorchidism, Aplasia of the uterus, Hypospadias	OMIM:194190
17Q11 Microdeletion Syndrome	Thickened cortex of long bones, Osteoporosis, Osteolysis, Osteopenia	ORPHA:97685
Hydrolethalus Syndrome 1	Bifid uterus, Hypospadias, Abnormal vagina morphology	OMIM:236680
Familial Cerebral Cavernous Malformation	Cerebral hemorrhage, Venous malformation, Cognitive impairment	ORPHA:221061
Progeroid Short Stature With Pigmented Nevi	Impaired T cell function	OMIM:176690
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Small scrotum, Cryptorchidism	OMIM:276820
Townes-Brocks Syndrome 1	Hypospadias, Rectovaginal fistula, Bifid scrotum, Rectoperineal fistula, Bifid uterus, Cryptorchi...	OMIM:107480
Adenocarcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424016
Neu-Laxova Syndrome 1	Bifid uterus, Cryptorchidism	OMIM:256520
Congenital Tracheal Stenosis	Fetal ascites, Polyhydramnios, Oligohydramnios	ORPHA:141127
Okamoto Syndrome	Bifid uterus	ORPHA:2729
Goodpasture Syndrome	Anemia, Weight loss	OMIM:233450
Primary Fanconi Renotubular Syndrome	Weight loss	ORPHA:3337
Pallister-Killian Syndrome	Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, Small scrotum...	OMIM:601803

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	Sex	Life Stage
Tibia - MPATH pathological process term dystrophy	Foxn1^{tm1.1(KOMP)Vlcg}	HOM		Early adult
Skin - MPATH pathological process term dystrophy	Foxn1^{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 Foxn1.

No publications found that use IMPC mice or data for Foxn1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Foxn1^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Foxn1^{tm8(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Foxn1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Foxn1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Foxn1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Foxn1^{tm1.1(KOMP)Vlcg}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice, Tissue

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Foxn1 MGI:102949

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Histopathology

X-ray

X-ray

Adult LacZ

Human diseases caused by Foxn1 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.0 Data