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Gene: Sox21 MGI:2654070

Gene Summary

Name:

SRY (sex determining region Y)-box 21

Synonyms:

Sox25

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
enlarged heart	Sox21^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal brain morphology	Sox21^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased lymphocyte cell number	Sox21^em1(IMPC)Mbp	HOM	Early adult	7.55×10^-08
increased monocyte cell number	Sox21^em1(IMPC)Mbp	HOM	Early adult	4.17×10^-08
abnormal lymph node morphology	Sox21^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased bone mineral content	Sox21^em1(IMPC)Mbp	HOM	Early adult	5.62×10^-06
decreased exploration in new environment	Sox21^em1(IMPC)Mbp	HOM	Early adult	6.18×10^-05
corneal opacity	Sox21^em1(IMPC)Mbp	HOM	Early adult	1.42×10^-05
hyperactivity	Sox21^em1(IMPC)Mbp	HOM	Early adult	1.28×10^-05
decreased circulating HDL cholesterol level	Sox21^em1(IMPC)Mbp	HOM	Early adult	2.87×10^-13
eye hemorrhage	Sox21^em1(IMPC)Mbp	HOM	Early adult	9.36×10^-08
decreased total body fat amount	Sox21^em1(IMPC)Mbp	HOM	Early adult	8.07×10^-05
abnormal skin morphology	Sox21^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged kidney	Sox21^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased locomotor activity	Sox21^em1(IMPC)Mbp	HOM	Early adult	2.65×10^-12
cataract	Sox21^em1(IMPC)Mbp	HOM	Early adult	2.59×10^-06
increased neutrophil cell number	Sox21^em1(IMPC)Mbp	HOM	Early adult	4.37×10^-06
decreased circulating cholesterol level	Sox21^em1(IMPC)Mbp	HOM	Early adult	9.29×10^-09
increased lean body mass	Sox21^em1(IMPC)Mbp	HOM	Early adult	6.72×10^-05
abnormal kidney morphology	Sox21^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal eyelid morphology	Sox21^em1(IMPC)Mbp	HOM	Early adult	7.42×10^-13
abnormal coat/ hair morphology	Sox21^em1(IMPC)Mbp	HOM	Early adult	1.98×10^-16
hydrocephaly	Sox21^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased startle reflex	Sox21^em1(IMPC)Mbp	HOM	Early adult	4.03×10^-06
small liver	Sox21^em1(IMPC)Mbp	HOM	Early adult	0.00
increased mean corpuscular volume	Sox21^em1(IMPC)Mbp	HOM	Early adult	4.13×10^-07
abnormal heart morphology	Sox21^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased grip strength	Sox21^em1(IMPC)Mbp	HOM	Early adult	3.63×10^-07
enlarged lymph nodes	Sox21^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal liver morphology	Sox21^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased body length	Sox21^em1(IMPC)Mbp	HOM	Early adult	1.51×10^-12
abnormal vitreous body morphology	Sox21^em1(IMPC)Mbp	HOM	Early adult	1.32×10^-06
decreased circulating serum albumin level	Sox21^em1(IMPC)Mbp	HOM	Early adult	8.51×10^-06
decreased bone mineral density	Sox21^em1(IMPC)Mbp	HOM	Early adult	2.50×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

42 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Human diseases caused by Sox21 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 Sox21 (0 diseases)
Human diseases predicted to be associated with Sox21 (1725 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Sox21 by phenotypic similarity.

Disease	Matching phenotypes	Source
Striate Palmoplantar Keratoderma	Abnormal hair morphology, Palmoplantar keratoderma, Abnormality of the nail	ORPHA:50942
Keratosis Palmoplantaris Striata Iii	Abnormal hair morphology, Palmoplantar keratoderma, Abnormality of the nail	OMIM:607654
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Graham Little-Piccardi-Lassueur Syndrome	Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis	ORPHA:505
Ringed Hair	Abnormal hair morphology	OMIM:180600
Hairy Nose Tip	Abnormal hair morphology	OMIM:139630
Discoid Fibromas, Familial Multiple	Abnormal hair morphology	OMIM:190340
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Palmoplantar kera...	ORPHA:2722
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Spa...	OMIM:617294
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Plantar hyperkeratosis, Nail dystrophy	OMIM:616487
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph...	OMIM:158000
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
L-Ferritin Deficiency	Alopecia	OMIM:615604
Erythrokeratodermia Variabilis Et Progressiva 5	Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis	OMIM:617756
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p...	ORPHA:189
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Hypotrichosis 1	Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai...	OMIM:605389
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Alopecia of scalp, Trichodysplasia	ORPHA:79129
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Candidiasis, Familial, 1	Alopecia	OMIM:114580
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony...	OMIM:104100
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Nail dystrophy, Nail pits	OMIM:601705
Hypotrichosis 10	Sparse eyebrow, Sparse eyelashes, Sparse body hair	OMIM:614238
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Angioma Serpiginosum, X-Linked	Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair	OMIM:300652
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Hypertrichosis Lanuginosa Congenita	Congenital, generalized hypertrichosis, Double eyebrow	OMIM:145700
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Moynahan Syndrome	Sparse hair, Hyperkeratosis, Alopecia	ORPHA:2574
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Sparse body hair, Abnormal testis morphology, Pili torti, Apla...	ORPHA:202
Hypertrichosis, Congenital Generalized	Congenital, generalized hypertrichosis, Hirsutism	OMIM:307150
Kerion Celsi	Alopecia	ORPHA:499
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Ptosis, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Throm...	OMIM:610539
Anonychia With Flexural Pigmentation	Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular hyperkeratosis, Anonychia	ORPHA:69125
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis	ORPHA:1008
Ectodermal Dysplasia 9, Hair/Nail Type	Concave nail, Absent eyelashes, Nail dystrophy, Atrichia, Nail dysplasia, Sparse hair, Absent hair	OMIM:614931
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, Nail dysplasia	OMIM:212360
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia	ORPHA:346
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glo...	OMIM:619644
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi...	ORPHA:129
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Glomerulopathy, Hemolytic-uremic syndrome, Hy...	ORPHA:2169
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera...	OMIM:300918
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Plantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Palmar hyperkeratosis, Hyperker...	ORPHA:79397
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Hypertrichosis, Anterior Cervical	Anterior cervical hypertrichosis	OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type	Congenital, generalized hypertrichosis	OMIM:145701
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Osteomyelitis, Microcytic anemia, Abnormal...	ORPHA:232
Mucopolysaccharidosis-Plus Syndrome	Synophrys, Flexion contracture, Low anterior hairline, Leukopenia, Coarse hair, Hypoalbuminemia, ...	OMIM:617303
Hemophagocytic Lymphohistiocytosis, Familial, 1	Decreased HDL cholesterol concentration, Leukopenia, Hypoalbuminemia, Hyponatremia, Hepatomegaly,...	OMIM:267700
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Olmsted Syndrome 2	Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar...	OMIM:619208
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Palmoplantar keratoderma, Fingernail dysplasia, Sparse hair, Onychogryposis of fingerna...	ORPHA:2251
Immunodeficiency 27A	Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric ly...	OMIM:209950
Leishmaniasis	Abnormal bleeding, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Elevated hepatic t...	ORPHA:507
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Broad-based gait, Cataract, Reduced systolic function, Failure to thrive in infancy...	OMIM:618805
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Self-mutilation, Hemolytic anem...	OMIM:619487
Bone Marrow Failure Syndrome 3	Aplastic anemia, Pancreatic steatosis, Reduced bone mineral density, Retinal dysplasia, Hernia, N...	OMIM:617052
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Pa...	OMIM:129500
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Ventriculomegaly, Subcutaneous hemorrhage, Corneal opacity, Abnormality of the live...	ORPHA:1980
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Palmoplantar keratoderma, Nail dystroph...	ORPHA:2890
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia, Streak ovary	OMIM:241090
Erythrokeratodermia Variabilis Et Progressiva 2	Palmoplantar keratoderma, Hypertrichosis	OMIM:617524
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Tremor, Hypoalbuminemia, Hepatic f...	ORPHA:247585
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri...	OMIM:117850
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ...	OMIM:617021
Hemophagocytic Lymphohistiocytosis, Familial, 2	Leukopenia, Hypoalbuminemia, Hyponatremia, Hepatomegaly, Hypoproteinemia, Ataxia, Hepatosplenomeg...	OMIM:603553
Epidermolysis Bullosa, Junctional 5A, Intermediate	Absent pubic hair, Nail dystrophy, Absent axillary hair, Onycholysis of distal fingernails, Alope...	OMIM:619816
Schöpf-Schulz-Passarge Syndrome	Alopecia, Ovarian neoplasm, Palmoplantar keratoderma, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Hepatoportal Sclerosis	Portal vein thrombosis, Leukopenia, Hypoalbuminemia, Abnormal bleeding, Portal hypertension, Intr...	ORPHA:64743
Cortisone Reductase Deficiency 1	Alopecia, Hirsutism	OMIM:604931
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
H Syndrome	Microcytic anemia, Corneal arcus, Hernia, Micropenis, Alopecia, Abnormality of the kidney, Hepato...	ORPHA:168569
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaun...	OMIM:619902
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Flexion contracture, Leukopenia, Hypoalbuminemia, Conjunctivitis, Hernia, Atrial septal defect, P...	ORPHA:505248
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly...	ORPHA:540
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:158061
Porphyria Cutanea Tarda	Facial hypertrichosis, Alopecia, Onycholysis	OMIM:176100
Oliver-Mcfarlane Syndrome	Alopecia, Decreased response to growth hormone stimulation test, Long eyebrows, Cryptorchidism, L...	OMIM:275400
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Follicular hyperkeratosis, Sparse hair, Pili torti	OMIM:607903
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Hype...	ORPHA:79395
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Failure to thrive, Epicanthus, Cardiomegaly, Conjugated hyperbilirubine...	OMIM:269920
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t...	OMIM:262000
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Orthok...	OMIM:614594
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad...	ORPHA:3202
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll...	OMIM:616099
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Dysmetria, Gait ataxia, Steppa...	ORPHA:14
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Knee flex...	OMIM:608836
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hepatocellular carcinom...	OMIM:277900
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Tremor, Flexion contracture, Renal cyst, Dysmetria, Hypoalbuminemia, Hepatic fibrosis...	OMIM:212065
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Diffuse a...	OMIM:616050
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pericardial effusion, Thrombocytopenia, Spleno...	ORPHA:464329
Flynn-Aird Syndrome	Hyperkeratosis, Alopecia, Alopecia of scalp	OMIM:136300
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys...	ORPHA:2325
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Anorexia, Leukopenia, Hypoalbuminemia, Lethar...	ORPHA:99826
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalb...	OMIM:226990
Keratoderma Hereditarium Mutilans	Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Abnormal toenail morphology, Abn...	ORPHA:494
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail	ORPHA:1882
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase...	OMIM:613752
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Anorexia, Ab...	ORPHA:99827
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia	OMIM:242510
Epidermolysis Bullosa, Junctional 1A, Intermediate	Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails	OMIM:226650
Congenital Enterovirus Infection	Abnormal bleeding, Ventriculomegaly, Abnormal macrophage morphology, Pericardial effusion, Myocar...	ORPHA:292
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re...	OMIM:617610
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomer...	OMIM:603278
Erythrokeratodermia Variabilis	Alopecia, Abnormal hair morphology, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Abnormali...	ORPHA:317
Pineocytoma	Abnormal eyelid morphology, Hydrocephalus, Cognitive impairment, Difficulty walking, Episodic ata...	ORPHA:251912
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Hemolytic anemia, Reticulocytosis, Anorexia, Rickets, Hepatosplenomegaly, Nephrocalc...	OMIM:611590
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, A...	ORPHA:247598
Shwachman-Diamond Syndrome	Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, P...	ORPHA:811
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,...	ORPHA:231222
Lujo Hemorrhagic Fever	Stiff neck, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Leukopeni...	ORPHA:319213
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Jaundice, Increased mean corpuscular vo...	OMIM:613839
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ...	ORPHA:54370
Al Amyloidosis	Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnormality of the liver, Hyp...	ORPHA:85443
Reni Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Ataxia, Mesangial hypercellularit...	OMIM:617575
Sialidosis Type 2	Hepatomegaly, Inguinal hernia, Ataxia, Corneal opacity, Tremor, Splenomegaly, Nephropathy, Flexio...	ORPHA:87876
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Absent facial hair, Abnormality of...	ORPHA:90368
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Ventriculomegal...	ORPHA:858
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J...	OMIM:603552
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:242300
Wolcott-Rallison Syndrome	Hyponatremia, Hepatomegaly, Renal insufficiency, Acute hepatic failure, Elevated hepatic transami...	ORPHA:1667
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center	OMIM:235550
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Mental deterioration, Truncal...	OMIM:208920
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Prolonged bleeding following procedure, Nephrocalcinosis, Hepatic steatosis, Tubuloin...	ORPHA:79259
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp...	ORPHA:79153
Analbuminemia	Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles...	OMIM:616000
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Decreased response to growth hormone stimulation test, Cryptorchidism, Long eyelashes, ...	ORPHA:3363
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Nail dystrophy, Palmoplantar keratoderma, Alopecia totalis	ORPHA:1366
16Q24.3 Microdeletion Syndrome	Ventriculomegaly, Ventricular septal defect, Optic nerve hypoplasia, Highly arched eyebrow, Abnor...	ORPHA:261250
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Failure to thrive, Ventricular septal defect, Tracheo...	OMIM:612561
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity, Craniosynostosis, Cardiomegaly	ORPHA:88643
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Gómez-López-Hernández Syndrome	Telecanthus, Ataxia, Corneal opacity, Hydrocephalus, Cognitive impairment, Alopecia of scalp	ORPHA:1532
Mucolipidosis Type Iii	Craniofacial hyperostosis, Inguinal hernia, Abnormal heart valve morphology, Corneal opacity, Joi...	ORPHA:577
1Q21.1 Microduplication Syndrome	Failure to thrive, Cataract, Hypospadias, Hydrocephalus, Attention deficit hyperactivity disorder...	ORPHA:250994
Trichohepatoenteric Syndrome 1	Brittle hair, Hypoalbuminemia, Hepatic fibrosis, Sparse hair, Hepatomegaly, Hypospadias, Increase...	OMIM:222470
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoa...	OMIM:619013
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Decreased glomerul...	OMIM:232220
Dyskeratosis Congenita, Autosomal Dominant 1	Alopecia, Aplastic anemia, Ataxia, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Premature gr...	OMIM:127550
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu...	OMIM:618849
Diamond-Blackfan Anemia	Pure red cell aplasia, Low anterior hairline, Reticulocytopenia, Leukopenia, Neutropenia, Atrial ...	ORPHA:124
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Alg1-Cdg	Renal insufficiency, Abnormality of the kidney, Limitation of joint mobility, Abnormal heart morp...	ORPHA:79327
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, P...	OMIM:612541
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor...	OMIM:615382
Galloway-Mowat Syndrome 6	Epicanthus, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia,...	OMIM:618347
Hyperlysinemia, Type I	Short attention span, Hyperactivity, Ectopia lentis, Hyperlysinuria, Cognitive impairment, Hyperl...	OMIM:238700
Mucolipidosis Ii Alpha/Beta	Osteopenia, Brittle hair, Increased serum beta-hexosaminidase, Cardiomegaly, Sparse hair, Megaloc...	OMIM:252500
Alg6-Cdg	Ataxia, Jaundice, Decreased LDL cholesterol concentration, Abnormality of the liver, Hypoalbumine...	ORPHA:79320
Refractory Celiac Disease	Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Microcytic anemia, Increased...	ORPHA:398063
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Congestive heart failure, Dilat...	ORPHA:367
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Hepatomegaly, Corneal opacity, Large for gestational age	ORPHA:2432
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrh...	ORPHA:98870
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Corneal opacity, Splen...	ORPHA:93476
Thrombocytopenia 5	Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula...	OMIM:616216
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Palmoplantar keratoderma,...	OMIM:612843
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,...	OMIM:607765
Woolly Hair, Autosomal Dominant	Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Palmoplant...	OMIM:194300
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Osteopor...	OMIM:612562
Griscelli Syndrome	Encephalocele, Hepatomegaly, Abnormal eyebrow morphology, Ataxia, Abnormality of neutrophils, Abn...	ORPHA:381
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair	ORPHA:2985
Winchester Syndrome	Corneal opacity, Hirsutism, Osteolysis involving tarsal bones, Carpal osteolysis, Generalized ost...	OMIM:277950
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis...	ORPHA:340
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Osteopenia, Aplastic anemia, Eosinophilia, Cellulitis, Acute lymphoblasti...	ORPHA:486
Nephrotic Syndrome, Type 2	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:600995
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El...	OMIM:615559
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated circulating creatine kinase concentration, Abnormal left ventricular function, Leukopeni...	OMIM:301056
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Elevated circulating creatinine concentration, Cholestasis, Anemia, Perimembranous ...	OMIM:608104
Tyrosinemia, Type I	Acute hepatic failure, Hepatocellular carcinoma, Nephrocalcinosis, Renal Fanconi syndrome, Hypoph...	OMIM:276700
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom...	OMIM:616860
Lichen Planopilaris	Hyperkeratosis, Alopecia, Onycholysis, Abnormal fingernail morphology	ORPHA:525
Congenital Disorder Of Glycosylation, Type Ib	Abnormal bleeding, Hepatomegaly, Hepatic failure, Renal cyst, Proximal tubulopathy, Hypoalbuminem...	OMIM:602579
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Wilson Disease	Acute hepatic failure, Increased body weight, Acute hepatitis, Hepatic steatosis, Hepatomegaly, H...	ORPHA:905
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Stom...	OMIM:185000
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, High-output congestive heart failur...	ORPHA:231226
Potocki-Lupski Syndrome	Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Abnormal repetitive manneris...	OMIM:610883
Bacterial Toxic-Shock Syndrome	Fasciitis, Elevated circulating creatine kinase concentration, Increased circulating myelocyte co...	ORPHA:36234
Mucopolysaccharidosis Type 3	Progressive neurologic deterioration, Cardiomegaly, Adenoiditis, Synophrys, Flexion contracture, ...	ORPHA:581
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia	ORPHA:94124
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated hepatic transaminase, Short attention span, Elevated circulating creatine kinase concent...	ORPHA:88618
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity	OMIM:616871
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Developmental And Epileptic Encephalopathy 36	Abnormal bleeding, Hepatomegaly, Hydrocephalus, Flexion contracture, Optic atrophy, Self-mutilation	OMIM:300884
Alg12-Cdg	Hyponatremia, Retinal detachment, Ventriculomegaly, Elevated hepatic transaminase, Hypospadias, E...	ORPHA:79324
Squalene Synthase Deficiency	Epicanthus, Bicuspid aortic valve, Hypospadias, Optic nerve hypoplasia, Increased circulating far...	OMIM:618156
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Hypertension, Nephrotic sy...	ORPHA:84090
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteoly...	ORPHA:100024
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Osteolysis involving bones of the upper limbs, Intracranial hemorrhage, Abnormality of the liver,...	ORPHA:464321
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Anemia of inadequate production, Hi...	ORPHA:231214
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Abnormal dental enamel morp...	ORPHA:251004
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Patchy alopecia	OMIM:247100
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia	OMIM:607250
Mantle Cell Lymphoma	Splenomegaly, Weight loss, Anorexia, Lymphadenopathy	ORPHA:52416
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Elevated circulating alpha-feto...	OMIM:251880
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Aortopulmonary wi...	ORPHA:97214
Trichotillomania	Alopecia	OMIM:613229
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Dandy-Walker malformation, Hepatomegaly, Portal...	OMIM:208540
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Proteinuria, Epistaxis, Elevated circulating C-reactive protein c...	OMIM:614034
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Macrocytic anemia, Sparse eyelashes, Persistence of hemoglobin F, Increased mean corpuscular volu...	OMIM:300946
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,...	OMIM:615573
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph...	OMIM:616730
Refractory Anemia With Excess Blasts	Abnormal bleeding, Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of ...	ORPHA:86839
Pachyonychia Congenita	Alopecia, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyperkeratoses in flex...	ORPHA:2309
Diarrhea 13	Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hypoalbuminemia	OMIM:620357
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ataxia, Hydrocephalus, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, ...	OMIM:618709
Hereditary Mucoepithelial Dysplasia	Sparse hair, Hyperkeratosis, Alopecia, Fine hair	ORPHA:1839
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, H...	OMIM:607823
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Progressive cerebellar ataxia, Ataxia, Corneal dystrophy, Corneal opacity	ORPHA:3177
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:2850
Neuraminidase Deficiency	Hepatomegaly, Inguinal hernia, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cat...	OMIM:256550
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Hyperactivity, Progressive neurologic deterioration, Cardiomegaly, Heparan sulfate ...	OMIM:252920
Immunodeficiency 15B	Monocytosis, Failure to thrive, Reduced natural killer cell count	OMIM:615592
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Sparse hair, Alope...	OMIM:604536
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Peritoneal effusion, Pericardial effusion, Abnormal lymphatic vessel morphology,...	ORPHA:90362
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Methylmalonic ac...	OMIM:277410
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm...	ORPHA:85445
Congenital Rubella Syndrome	Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Ventricular septal defect, Corneal o...	ORPHA:290
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Vasculitis, Decr...	OMIM:617718
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Hypoalbuminemia, Vesicoureteral reflux, Atrial septal defect, Spina bifida occult...	OMIM:235510
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ...	OMIM:617609
Primary Sclerosing Cholangitis	Osteopenia, Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Hypoalbumin...	ORPHA:171
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Immunodeficiency 104	Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary to re...	OMIM:608971
Atypical Teratoid Rhabdoid Tumor	Irritability, Hydrocephalus, Limitation of joint mobility, Ataxia	ORPHA:99966
Gaucher Disease	Osteopenia, Elevated circulating C-reactive protein concentration, Tremor, Osteoarthritis, Abnorm...	ORPHA:355
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Follicula...	OMIM:613102
Peroxisome Biogenesis Disorder 3B	Abnormal bleeding, Hepatomegaly, Ataxia, Elevated circulating phytanic acid concentration, Osteop...	OMIM:266510
Hurler Syndrome	Progressive neurologic deterioration, Flexion contracture, Hernia, Endocardial fibroelastosis, Re...	OMIM:607014
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Hepatic cysts, Malformation of the hepatic ductal plate, Asplen...	OMIM:615415
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Renal insufficiency, Proteinuria, Corneal opacity, Congenital diaphragmatic hernia, I...	OMIM:166300
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Hyperactivity, Aggressive behavior, Tremor, Hydrocephalus, Optic atrophy, Elbow...	OMIM:619470
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Dystonia, Proteinuria, Ataxia, Ventriculomegaly...	OMIM:251300
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Pulmonary embolism, ...	ORPHA:567548
Juvenile Sialidosis Type 2	Hepatomegaly, Inguinal hernia, Cataract, Ataxia, Abnormality of the kidney, Corneal opacity, Opti...	ORPHA:93399
Congenital Sialidosis Type 2	Abnormal EKG, Hepatomegaly, Inguinal hernia, Ataxia, Abnormality of the kidney, Corneal opacity, ...	ORPHA:93400
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Aqueductal stenosis, Biliary atresia, Dextrotransposition of the great ar...	OMIM:306955
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Hepatomegaly, Acute hepatic failure, Dicarboxylic aciduria, Eleva...	OMIM:613070
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f...	ORPHA:64753
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Hepatomegaly, Hyperactivity, Elevated hepatic transaminase, V...	OMIM:615673
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Dysphagia, Wei...	ORPHA:2070
Fibrodysplasia Ossificans Progressiva	Alopecia	ORPHA:337
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal blood ion concentration, Iron deficiency anemia, Tubulointerstitial nephritis, Hypoalbum...	ORPHA:37042
Leptospirosis	Hepatomegaly, Pericarditis, Papilledema, First degree atrioventricular block, Anorexia, Cellular ...	ORPHA:509
Alpha-Mannosidosis, Adult Form	Aortic regurgitation, Optic disc pallor, Pancytopenia, Osteopenia, Ataxia, Confusion, Corneal opa...	ORPHA:309288
Smith-Lemli-Opitz Syndrome	Renal cyst, Hypoalbuminemia, Holoprosencephaly, Hypocholesterolemia, Atrial septal defect, Microp...	OMIM:270400
Avian Influenza	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu...	ORPHA:454836
Castleman Disease	Myelofibrosis, Renal insufficiency, Generalized lymphadenopathy, Elevated circulating C-reactive ...	ORPHA:160
Dermatopathia Pigmentosa Reticularis	Alopecia of scalp, Nail dystrophy, Palmoplantar hyperkeratosis	OMIM:125595
Glycogen Storage Disease Ia	Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Proteinuria, Hepatocellular carci...	OMIM:232200
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Corneal opacity, Chronic noninfectious lymphaden...	ORPHA:31150
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Orbital craniosynostosis, Hydrocephalus, Optic atrophy, Dandy-Walker malformation	ORPHA:1538
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Keratoconus, Alopecia, Decreased circulating ceruloplasmin concent...	OMIM:242150
Congenital Ichthyosiform Erythroderma	Alopecia, Palmoplantar keratoderma, Abnormality of the nail	ORPHA:79394
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:615234
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Hypoalbuminemia, Proteinuria	OMIM:614652
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Pulmonary embolism, Iron deficiency anemia, Hypoalbuminemia, Budd-Chiari syndrome, ...	OMIM:226300
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Hyperkalemia, Elevated...	OMIM:602088
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Sparse eyebrow, Alopecia, Sparse eyelashes, Nail dysplasia	OMIM:615704
Multiple Sulfatase Deficiency	Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Joint stiffness, Sp...	ORPHA:585
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Bathing Suit Ichthyosis	Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Sparse hair	ORPHA:100976
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Diaphanospondylodysostosis	Delayed vertebral ossification, Inguinal hernia, Absent in utero ossification of vertebral bodies...	OMIM:608022
Classic Mycosis Fungoides	Hyperkeratosis, Alopecia, Abnormality of the nail	ORPHA:2584
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis	OMIM:609638
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Ventriculomegaly, Cataract, Corneal opacity, Elevated circulating creatine ki...	OMIM:613153
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Palmoplant...	OMIM:605676
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Dystonia, Anorexia, Splenomegaly, Optic atrophy, Hyperammonemi...	ORPHA:79312
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Postural tremor, Action tremor, Unsteady gait, ...	OMIM:254900
Nasu-Hakola Disease	Hydrocephalus, Bone cyst, Limitation of joint mobility, Reduced bone mineral density, Acute leuke...	ORPHA:2770
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Congenital Disorder Of Glycosylation, Type Iil	Abnormal bleeding, Hepatomegaly, Pancytopenia, Ventriculomegaly, Ventricular septal defect, Eleva...	OMIM:614576
Gm1 Gangliosidosis	Tremor, Generalized hirsutism, Ataxia, Hepatosplenomegaly, Cardiomyopathy, Gait disturbance, Cogn...	ORPHA:354
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal cardiac septum morphology, Corneal opacity, Reduced bone mineral density	ORPHA:2370
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis...	ORPHA:79319
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Splenomegaly, Hyperlipidemia, Jaundice, Lym...	ORPHA:79477
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Corneal dystrophy, Anorexia, Atrioventricular b...	ORPHA:324
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Brittle hair, Sparse eyebrow, Micropenis, Developmental cataract, Hypocholesterolem...	OMIM:618810
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Waddling gait, Thick eyebrow, Elevated hepatic transaminase, Left atrial...	OMIM:300280
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Inguinal hernia, Transient neutropenia, Ventricular septal defect, Chronic neu...	ORPHA:500095
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Dystonia, Failure to th...	OMIM:618278
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Ogden Syndrome	Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato...	OMIM:300855
Diamond-Blackfan Anemia 1	Macrocytic anemia, Failure to thrive, Ventricular septal defect, Tricuspid stenosis, Epicanthus, ...	OMIM:105650
Leukocyte Adhesion Deficiency, Type Iii	Abnormal bleeding, Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocyto...	OMIM:612840
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Secundum atrial septal defect, Conjugated hyperbilirubinemia, Aqueductal stenosis, Pr...	OMIM:619534
Helsmoortel-Van Der Aa Syndrome	Ectropion of lower eyelids, Enuresis nocturna, Eyelid coloboma, Compulsive behaviors, Atrial sept...	OMIM:615873
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Thin nail, Abnormal hair morphology, Hyperkeratosis, Palmoplantar keratoderma, Small nail	OMIM:242100
Majeed Syndrome	Osteomyelitis, Anemia of inadequate production, Microcytic anemia, Flexion contracture, Hepatospl...	OMIM:609628
Cln3 Disease	Cataract, Ataxia, Aggressive behavior, Vacuolated lymphocytes, Optic atrophy, Mental deterioratio...	ORPHA:228346
Neonatal Lupus Erythematosus	Aplastic anemia, Heart block, Atrioventricular block, Abnormality of the liver, Neutropenia, Abno...	ORPHA:398124
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventriculomegaly, Splenomegaly, Hydroc...	OMIM:610333
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Multinodular goiter, Palmoplantar keratoderma, Nail dystrophy, Alopecia of scalp	OMIM:618373
Generalized Pustular Psoriasis	Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive...	ORPHA:247353
Alpha-Mannosidosis	Craniofacial hyperostosis, Inguinal hernia, Hepatomegaly, Corneal opacity, Cataract, Splenomegaly...	ORPHA:61
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus, Cognitive impairment	ORPHA:2807
Hypotrichosis 14	Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair	OMIM:618275
Retinopathy Of Prematurity	Vitreous hemorrhage, Small for gestational age, Tractional retinal detachment	ORPHA:90050
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
Rhabdoid Tumor	Renal neoplasm, Hypercalcemia, Lymphadenopathy, Anemia, Hypertension, Hematuria, Irritability, We...	ORPHA:69077
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Dystonia, Mental deterioration	OMIM:615924
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Alopecia	OMIM:203550
Alopecia-Intellectual Disability Syndrome 4	Bilateral cryptorchidism, Alopecia	OMIM:618840
Reticuloendotheliosis, X-Linked	Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly	OMIM:312500
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Absent axillary hair, Alopecia of...	ORPHA:2269
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Failure to thrive, Abnormal circulating selenium concentration, Decreased serum iron, Corneal ero...	ORPHA:89842
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Pericardial effusion, Polycystic kidney dysplasia, Hypere...	OMIM:613885
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypospadias, Corneal opacity, Dilated cardiomyopathy, Flexion contracture, Micropenis, Developmen...	OMIM:618815
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Elevated circulating aspar...	OMIM:615558
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Angina pectoris, Corneal opacity, Splenome...	ORPHA:79292
Schimke Immuno-Osseous Dysplasia	Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change glomerulonephritis, Decreas...	ORPHA:1830
Harel-Yoon Syndrome	Ataxia, Corneal opacity, Inability to walk, Optic atrophy, Developmental cataract, Upslanted palp...	OMIM:617183
Mulibrey Nanism	Hepatomegaly, Nephroblastoma, Corneal dystrophy, Cardiomegaly, Congestive heart failure, Myocardi...	OMIM:253250
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Macular atrophy, Vitreou...	OMIM:312700
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl...	ORPHA:449395
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Cachexia, Absence of subcutaneou...	OMIM:610965
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:1490
Alg9-Cdg	Right ventricular dilatation, Abnormal left ventricular outflow tract morphology, Abnormal bone o...	ORPHA:79328
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Schnitzler Syndrome	Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenop...	ORPHA:37748
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow	OMIM:614564
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Lymphoid Interstitial Pneumonia	Hepatomegaly, Raynaud phenomenon, Mediastinal lymphadenopathy, Weight loss, Keratoconjunctivitis ...	ORPHA:79128
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Joint laxity, Small for gestational age, Elevated circulating aspar...	OMIM:617093
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Epicanthus, Cataract, Corneal opacity, Aggressive behavior, Myopic astigmatis...	OMIM:152950
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Posterior embryotoxon, I...	ORPHA:1473
Ethanolaminosis	Cardiomegaly	OMIM:227150
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Posterior embryotoxon, Ventricular septal defect, Hyp...	ORPHA:912
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Progressive neurologic deterioration, Abnormal tricuspid valve morph...	ORPHA:580
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Hydrocele testis, Sparse body hair	ORPHA:69735
Maternal Uniparental Disomy Of Chromosome 4	Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Ata...	ORPHA:96180
Ataxia-Oculomotor Apraxia 4	Ataxia, Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemia, Cognitive...	OMIM:616267
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Failure to thrive, Cataract, Epicanthus, Palpebral...	OMIM:214110
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Recurrent urinary ...	OMIM:617585
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Lung abscess, Abnormal pericardium morphology, Cong...	ORPHA:67
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hypouricemi...	OMIM:613179
Mucous Membrane Pemphigoid	Atypical scarring of skin, Corneal opacity	ORPHA:46486
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Confusio...	OMIM:212140
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Anorexia, Hypersplenism, Thromboc...	ORPHA:98850
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Developmental c...	OMIM:616834
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i...	ORPHA:363400
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hyperalaninemia, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive in infancy, Cardi...	OMIM:619064
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Cardiomegaly, Splenomegaly, Congestive hea...	OMIM:235200
Mevalonic Aciduria	Elevated hepatic transaminase, Normocytic hypoplastic anemia, Optic disc pallor, Cataract, Ataxia...	OMIM:610377
Chylomicron Retention Disease	Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho...	OMIM:246700
Alpha-Heavy Chain Disease	Alopecia	ORPHA:100025
Edinburgh Malformation Syndrome	Hydrocephalus, Jaundice, Frontal hirsutism, Failure to thrive, Neonatal hyperbilirubinemia	OMIM:129850
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma...	OMIM:256300
Atelis Syndrome 2	Epicanthus, Remnants of the hyaloid vascular system, Thrombocytopenia, Dysmetria, Supravalvar pul...	OMIM:620185
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Osteopenia, Inguinal hernia, Ventriculomegaly, Recurrent fractures, ...	OMIM:618188
Pontocerebellar Hypoplasia, Type 15	Chronic neutropenia, Hydrocephalus, Anemia, Dystonia, Thrombocytopenia	OMIM:619302
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Elevated circulating aspartate aminotransferase concentration, Elevated circulatin...	OMIM:607091
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Progressive neurologic deterioration, Optic atrophy, Prolonged pro...	OMIM:618329
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Cataract, Postural tremor, Ataxia, Abnormal erythroc...	ORPHA:79239
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio...	OMIM:613101
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated circulating C-reactive protein concentration, Neutropenia, Hepatosplenomegaly, Acute lym...	ORPHA:158057
Cronkhite-Canada Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Dystrophic toenail, Patchy alopec...	ORPHA:2930
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:656
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo...	ORPHA:85450
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong...	OMIM:604765
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Inguinal hernia, Large for gestational age, Umbilical hernia, Nephroblastoma, Enlarged kidney	OMIM:618272
Cystinosis	Renal insufficiency, Proteinuria, Corneal opacity, Portal hypertension, Rickets, Renal tubular dy...	ORPHA:213
Cirrhotic Cardiomyopathy	Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Abnorma...	ORPHA:57777
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Cryptorchidism, Atrichia, Nail dystrophy, Decreased t...	ORPHA:1867
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormality of the spleen, Abnormality of the pancreas, Abnormal lym...	ORPHA:543
Nicolaides-Baraitser Syndrome	Alopecia, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, Cryptorchidism, Long eye...	ORPHA:3051
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Acrocephalopolydactylous Dysplasia	Omphalocele, Hepatomegaly, Epicanthus, Pancreatic fibrosis, Craniosynostosis, Upslanted palpebral...	OMIM:200995
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,...	ORPHA:730
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Tremor, Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly	OMIM:611808
Refsum Disease, Classic	Cataract, Ataxia, Cardiomegaly, Congestive heart failure, Elevated circulating phytanic acid conc...	OMIM:266500
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Progressive neurologic deterioration, Congestive hear...	ORPHA:90065
Phenylketonuria	Maternal hyperphenylalaninemia, Hyperactivity, Cataract, Increased level of hippuric acid in urin...	OMIM:261600
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent urinary tract infections, Ventricular septal defect, Joint hypermobility,...	OMIM:620210
Sialidosis Type 1	Urinary excretion of sialylated oligosaccharides, Ataxia, Corneal opacity, Cataract, Tremor, Sple...	ORPHA:812
Cach Syndrome	Cataract, Progressive neurologic deterioration, Flexion contracture, Optic atrophy, Renal hypopla...	ORPHA:135
Peroxisome Biogenesis Disorder 5A (Zellweger)	Conjugated hyperbilirubinemia, Renal cyst, Atrial septal defect, Lethargy, Intrahepatic biliary d...	OMIM:614866
Chédiak-Higashi Syndrome	Tremor, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes,...	ORPHA:167
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Elevated circulating creatine kinase concentration, Inability to walk, Hydrocephalus, Flexion con...	OMIM:613155
Retinal Capillary Malformation	Vitreous hemorrhage, Retinal capillary hemangioma, Hyphema	ORPHA:71213
Immunodeficiency 96	Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu...	OMIM:619774
Galactosialidosis	Corneal opacity	ORPHA:351
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kid...	ORPHA:54251
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Cataract, Ataxia, Congenital hepatic fibrosis, Chronic kidne...	ORPHA:3156
Lowry-Maclean Syndrome	Osteopenia, Inguinal hernia, Hypospadias, Corneal opacity, Congenital diaphragmatic hernia, Crani...	ORPHA:2409
Localized Junctional Epidermolysis Bullosa	Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N...	ORPHA:251393
Hemochromatosis, Type 3	Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin...	OMIM:604250
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Increased bone mineral density, Osteomyelitis, Craniosynostosis, Sple...	OMIM:259700
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Ataxia, Tremor, Elevated circulating phytanic acid concentration, Depression, Pigmentar...	OMIM:614307
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Joint laxity, Epicanthus, Ventricular septal defect, Nephroblastoma, Hydrocephalus, Hernia, Leuke...	OMIM:602501
Hemochromatosis, Type 4	Hepatomegaly, Cataract, Increased circulating ferritin concentration, Elevated transferrin satura...	OMIM:606069
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic non...	OMIM:603909
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Tremor, Nephropathy, Iris coloboma, Hepatomegaly, Multicystic kidney dys...	ORPHA:1454
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension, Hydrocephalus, Thrombocytopenia	OMIM:166990
Pseudo-Torch Syndrome 1	Increased CSF protein concentration, Hepatomegaly, Renal insufficiency, Ventriculomegaly, Petechi...	OMIM:251290
Immunodeficiency 43	Lung abscess, Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemi...	OMIM:241600
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomegaly, Stiff interphalangeal joints, Lethargy, Hepatomegaly, Portal hypertension, Osteopor...	ORPHA:465508
Hurler Syndrome	Hepatomegaly, Angina pectoris, Abnormal heart valve morphology, Camptodactyly of finger, Abnormal...	ORPHA:93473
Mucolipidosis Iv	Corneal opacity, Progressive neurologic deterioration, Optic atrophy, Opacification of the cornea...	OMIM:252650
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Cellulitis, Lymphadeni...	OMIM:618986
Farber Disease	Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Corneal opacity, ...	ORPHA:333
Glycogen Storage Disease Of Heart, Lethal Congenital	Cataract, Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST ...	OMIM:261740
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Sparse eyebrow, Orthokeratosis, Bile duct ...	OMIM:607626
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Hypocalcemia, Hepatomegaly, Increased bone mineral density, Leukocy...	OMIM:259720
Dubowitz Syndrome	Sparse scalp hair, Inguinal hernia, Short attention span, Aplastic anemia, Hypospadias, Hyperacti...	OMIM:223370
Ménétrier Disease	Gastrointestinal hemorrhage, Anorexia, Hypochromic microcytic anemia, Weight loss, Hypoalbuminemi...	ORPHA:2494
Oslam Syndrome	Radioulnar synostosis, Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ...	ORPHA:1451
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615895
Kaufman Oculocerebrofacial Syndrome	Optic disc pallor, Epicanthus, Telecanthus, Ventricular septal defect, Blepharophimosis, Sparse e...	OMIM:244450
Multiple Sulfatase Deficiency	Hepatomegaly, Ventriculomegaly, Ataxia, Corneal opacity, Splenomegaly, Hydrocephalus, Mucopolysac...	OMIM:272200
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic...	ORPHA:42
Roifman Syndrome	Noncompaction cardiomyopathy, Hepatomegaly, Hip contracture, Ventricular septal defect, Eosinophi...	OMIM:616651
Whipple Disease	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Hyponatremia, Ataxia, Myocardial infarct...	ORPHA:3452
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Hurler-Scheie Syndrome	Aortic regurgitation, Hepatomegaly, Inguinal hernia, Corneal opacity, Camptodactyly of finger, Jo...	OMIM:607015
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventriculomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Chronic k...	OMIM:615630
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair	ORPHA:50812
Pseudo-Torch Syndrome 3	Proteinuria, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Leu...	OMIM:618886
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Anorexia, Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:86893
Autosomal Recessive Cutis Laxa Type 2A	Abnormal bleeding, Dilated fourth ventricle, Inguinal hernia, Ataxia, Thick hair, Corneal opacity...	ORPHA:357058
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Epicanthus, Proteinuria, Hiatus hernia, Stage 5 chronic kidney disea...	OMIM:617729
Primary Myelofibrosis	Abnormal bleeding, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Port...	ORPHA:824
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Prolong...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Prolong...	ORPHA:529799
Beemer Lethal Malformation Syndrome	Hydrocephalus, Thrombocytopenia	OMIM:209970
Congenital Hydrocephalus	Hydrocephalus, Optic atrophy, Abnormal heart morphology, Colpocephaly, Downslanted palpebral fiss...	ORPHA:2185
Chediak-Higashi Syndrome	Tremor, Leukopenia, Giant neutrophil granules, Neutropenia, Iris hypopigmentation, Impaired neutr...	OMIM:214500
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Hyphema, Leukocoria, Microcor...	OMIM:221900
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Hepatic steatosis, Joint...	OMIM:613658
Congenital Muscular Dystrophy, Fukuyama Type	Cataract, Camptodactyly of finger, Hydrocephalus, Dilated cardiomyopathy, Flexion contracture, Op...	ORPHA:272
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly, Pancytopenia, Cataract, Ataxia, Progressive psychomotor deterioration, Epiphyseal s...	ORPHA:251009
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Felty Syndrome	Hepatomegaly, Pericarditis, Recurrent urinary tract infections, Splenomegaly, Cellulitis, Limitat...	ORPHA:47612
Exudative Vitreoretinopathy 4	Osteopenia, Vitreous hemorrhage, Subcapsular cataract, Tractional retinal detachment	OMIM:601813
Hypomelanosis Of Ito	Alopecia	OMIM:300337
Juvenile Polyposis Of Infancy	Abnormal bleeding, Gastrointestinal hemorrhage, Refractory anemia, Subcutaneous lipoma, Cachexia,...	ORPHA:79076
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Elevated circulating C-reacti...	OMIM:619381
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Ventriculomegaly, Corneal opacity, Scarring, Craniosynostosis, Atrophic scars, Hypoalbu...	ORPHA:79396
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Nail pits, Fine hair, Hypoplastic nipples, Abnormalit...	ORPHA:978
Tularemia	Brain abscess, Tachycardia, Confusion, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, ...	ORPHA:3392
Immunodeficiency 75 With Lymphoproliferation	Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H...	OMIM:619126
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Osteopenia, Oligosacchariduria, Cortical thickening of long bone dia...	ORPHA:309282
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Retinal detachment, Waddling gait, Joint laxity, Corneal opacity, Osteoporosis, Incre...	ORPHA:2788
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Increased circulating ferritin concentration, Anisopoikilocytosis,...	ORPHA:300298
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Medial flaring of the eyebrow, Retinal detachment, Ventriculomegaly, Cataract, Ataxia, Aggressive...	OMIM:619833
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Abnormal circulating lipid concentration, Proteinuria, Alopecia, Decreased body...	ORPHA:2298
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus, Elevated circulating alpha-aminoadipic semialdehyde concentration	OMIM:266100
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, Gait ataxia, Upslanted palpebra...	ORPHA:496790
Pediatric-Onset Graves Disease	Abnormal eyelid morphology, Tremor, Hepatomegaly, Hyperactivity, Emotional lability, Elevated hep...	ORPHA:525731
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
2,4-Dienoyl-Coa Reductase Deficiency	Failure to thrive, Ataxia, Hydrocephalus, Optic atrophy, Increased CSF lactate, Choreoathetosis, ...	OMIM:616034
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Ventriculomegaly, Ventricular septal defect, Dextrocardia, ...	ORPHA:99776
Rhizomelic Chondrodysplasia Punctata	Alopecia, Sparse body hair	ORPHA:177
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Lipodystrop...	OMIM:617591
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Hemolytic anemia, Decreased HDL cholester...	ORPHA:650
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Autoimmune Polyendocrinopathy Type 2	Hypoparathyroidism, Alopecia	ORPHA:3143
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Abnormality of the anterior pituitary, Coarse hair, Posterior pituitary h...	ORPHA:75389
Cinca Syndrome	Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, H...	OMIM:607115
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Thick eyebrow, Epicanthus, Abnormal heart valve morphology, Corneal opacity, Joint ...	OMIM:253220
Legionnaires Disease	Hyponatremia, Pericarditis, Renal insufficiency, Proteinuria, Ataxia, Anorexia, Myocarditis, Sple...	ORPHA:549
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia...	OMIM:602450
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Normocytic anemia, Hepatomegaly, Renal insufficiency, Ataxia, Epista...	ORPHA:33226
Hemifacial Atrophy, Progressive	Patchy alopecia, Poliosis	OMIM:141300
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport...	OMIM:212050
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hypomethioninemia, Megaloblastic anemia, Pulmonary embolism, Hyperhomocystinemia, Neutropenia, Le...	ORPHA:79282
Primary Biliary Cholangitis	Orthostatic hypotension, Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic fa...	ORPHA:186
Proteus-Like Syndrome	Communicating hydrocephalus, Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Hydr...	ORPHA:2969
Kleeblattschaedel	Recurrent corneal erosions, Hydrocephalus, Elbow ankylosis, Craniosynostosis	OMIM:148800
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E...	ORPHA:90044
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hyperalaninemia, Tricuspid regurgitation, Cardiomegaly, Hyperammonemia, ...	OMIM:619051
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine...	OMIM:255120
Dyskeratosis Congenita, Autosomal Recessive 6	Sparse hair, Alopecia, Nail dystrophy	OMIM:616353
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Tubulointerstitial nephritis, Re...	ORPHA:470
Deafness-Lymphedema-Leukemia Syndrome	Prolonged bleeding time, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acu...	ORPHA:3226
Hsd10 Disease, Infantile Type	Restlessness, Cardiomegaly, Optic atrophy, Hyperammonemia, Increased CSF lactate, Choreoathetosis...	ORPHA:391428
Cockayne Syndrome Type 3	Dry hair, Progressive neurologic deterioration, Flexion contracture, Premature graying of hair, M...	ORPHA:90324
Satoyoshi Syndrome	Alopecia, Alopecia universalis	OMIM:600705
B4Galt1-Cdg	Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Small for gestational age, Elevat...	ORPHA:79332
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Rhegmatogenous retinal detachment, Cataract, Reduced bone mineral density...	ORPHA:891
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Hemolytic anemia, Hepatomegal...	ORPHA:809
Oculocerebrocutaneous Syndrome	Cryptorchidism, Alopecia	OMIM:164180
Acute Promyelocytic Leukemia	Abnormal bleeding, Pancytopenia, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Thrombocytopen...	ORPHA:520
Systemic Lupus Erythematosus 17	Alopecia	OMIM:301080
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom...	OMIM:259710
Erythroderma, Lethal Congenital	Failure to thrive, Hypoalbuminemia	OMIM:227090
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Urinary incontinence, Asplenia, Abnormal pupil morphology, Flexion contrac...	ORPHA:261552
Mucopolysaccharidosis Type 1	Inguinal hernia, Abnormal heart valve morphology, Abnormality of the tonsils, Corneal opacity, Jo...	ORPHA:579
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Hyperactivity, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly, S...	OMIM:252930
Histiocytosis-Lymphadenopathy Plus Syndrome	Cardiomegaly, Corneal arcus, Joint contracture of the 5th finger, Atrial septal defect, Micropeni...	OMIM:602782
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Proteinuria, Small for gestational age, Cor pulmonale, Macronodular cirrhosis, Abnormal T cell mo...	OMIM:215250
Developmental Delay, Language Impairment, And Ocular Abnormalities	Inguinal hernia, Hyperactivity, Impulsivity, Aggressive behavior, Myelomeningocele, Myopic astigm...	OMIM:620141
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Highly arched eyebrow, Synophrys, Palmoplantar hyperkeratosis, Dystrophic toenail, Nail...	ORPHA:3253
Secondary Intestinal Lymphangiectasia	Right ventricular failure, Decreased prealbumin level, Reduced circulating transferrin concentrat...	ORPHA:90363
Classic Hodgkin Lymphoma	Hepatomegaly, Ataxia, Anorexia, Splenomegaly, Osteolysis, Lymphadenopathy, Weight loss, Bone marr...	ORPHA:391
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, 4-hydroxyphenylacetic aciduria, Conjugated hyper...	OMIM:617156
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Hydrocephalus, Urethral atresia, Transposition of the great arteries, Atrioventricu...	OMIM:314390
Roifman Syndrome	Hip contracture, Noncompaction cardiomyopathy, Eosinophilia, Delayed proximal femoral epiphyseal ...	ORPHA:353298
Wagro Syndrome	Cataract, Proteinuria, Corneal opacity, Aggressive behavior, Obesity, Hypertension, Agitation, Lo...	OMIM:612469
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Hypocholesterol...	ORPHA:71
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Corneal opacity, Unilateral renal agenesis, Acute leukemia, Attention defici...	ORPHA:281090
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cel...	ORPHA:98848
Congenital Disorder Of Deglycosylation 1	Oral-pharyngeal dysphagia, Dysmetria, Hepatic fibrosis, Chondroitin sulfate excretion in urine, H...	OMIM:615273
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, We...	ORPHA:103910
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Chromosome 6Pter-P24 Deletion Syndrome	Joint laxity, Posterior embryotoxon, Epicanthus, Ventricular septal defect, Short palpebral fissu...	OMIM:612582
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hepatomegaly, Short attention span, Hyperactivity, Epicanthus, Highly arched eyebrow, Aggressive ...	OMIM:618342
Greig Cephalopolysyndactyly Syndrome	Inguinal hernia, Ventriculomegaly, Hypospadias, Craniosynostosis, Hydrocephalus, Abnormal heart m...	OMIM:175700
Incontinentia Pigmenti	Spina bifida occulta, Alopecia, Abnormal dental enamel morphology, Gait disturbance, Cognitive im...	ORPHA:464
Familial Cold Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Lymphadenopath...	OMIM:611762
Smith-Magenis Syndrome	Retinal detachment, Hyperactivity, Hypertriglyceridemia, Synophrys, Abnormal renal morphology, Se...	OMIM:182290
Isolated Atp Synthase Deficiency	Hepatomegaly, Cataract, Ataxia, Dilated cardiomyopathy, Optic atrophy, Renal hypoplasia, Hyperamm...	ORPHA:254913
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia	OMIM:616576
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Ataxia-Telangiectasia	Elevated hepatic transaminase, Hypopigmentation of hair, Failure to thrive, Telangiectasia of the...	ORPHA:100
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Abnormal pupil morphology, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Le...	ORPHA:534
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Alopecia, Small pituitary gland	OMIM:612079
Galactokinase Deficiency	Psychomotor deterioration, Hepatomegaly, Cataract, Small for gestational age, Hepatosplenomegaly,...	ORPHA:79237
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Red-brown urine, T...	ORPHA:228308
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Restless legs, Postural tremor, Hydrocephalus, Inability to walk by childhood/adolescence, Flexio...	ORPHA:99947
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Failure to thrive, Jaundice, Ly...	ORPHA:276
Beckwith-Wiedemann Syndrome	Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, V...	ORPHA:116
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypomethioninemia, Megaloblastic anemia, Tremor, Cystathioninuria, Hyperhomocystinemia, Neutropen...	OMIM:277400
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Pulmonary embolism, Vitreous hemorrhage, Purpura	OMIM:612304
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatosplenomegaly, Lym...	OMIM:619750
Juvenile Huntington Disease	Broad-based gait, Hyperactivity, Ataxia, Gait ataxia, Bradykinesia, Progressive cerebellar ataxia...	ORPHA:248111
Bleeding Disorder, Platelet-Type, 21	Alopecia	OMIM:617443
Congenital Lethal Erythroderma	Failure to thrive, Hypoalbuminemia	ORPHA:1954
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Meacham Syndrome	Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the ...	OMIM:608978
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Sparse scalp hair, Inguinal hernia, Epicanthus, Abnormality of the kidney, Sagittal craniosynosto...	ORPHA:459061
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia, Retinal detachment, Cataract, Optic nerve hypoplasia, Highly arched eyebrow, Retina...	OMIM:620157
Familial Dysautonomia	Hyponatremia, Glomerulopathy, Orthostatic hypotension, Renal insufficiency, Tachycardia, Ataxia, ...	ORPHA:1764
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Inguinal hernia, Hyperactivity, Joint stiffness, Heparan sulfate excretion in urine...	OMIM:252900
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Epicanthus, Hydrocephalus, Hepatic failure, Renal tubular dysfunct...	OMIM:614886
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Epicanthus, Ataxia, Hydrocephalus, Craniofacial osteosclerosis, Optic atrophy, ...	OMIM:618476
Familial Acute Necrotizing Encephalopathy	Increased CSF protein concentration, Choroid hemorrhage, Gait disturbance	ORPHA:88619
Galactosemia I	Hemolytic anemia, Hepatomegaly, Cataract, Elevated circulating aspartate aminotransferase concent...	OMIM:230400
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopa...	ORPHA:829
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Patent urachus, Atrial septal defect, Scimitar anomaly, Micropen...	OMIM:618280
Incontinentia Pigmenti	Ridged nail, Alopecia, Supernumerary nipple, Nail pits, Fine hair, Hyperkeratosis, Coarse hair, B...	OMIM:308300
Cockayne Syndrome	Dry hair, Urinary incontinence, Congenital contracture, Progressive gait ataxia, Lentiglobus, Ret...	ORPHA:191
Schimke Immunoosseous Dysplasia	Osteopenia, Abnormal T cell morphology, Coarse hair, Neutropenia, Waddling gait, Nephrotic syndro...	OMIM:242900
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia	OMIM:215100
Sézary Syndrome	Alopecia, Palmoplantar keratoderma, Nail dystrophy	ORPHA:3162
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Leukopenia, Hepatomegaly, Renal artery ane...	OMIM:615688
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Pterygium, Cardiac arrest, Cardiomegaly, Left ven...	OMIM:618052
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ...	OMIM:614172
Oculocerebral Hypopigmentation Syndrome, Cross Type	Inguinal hernia, Ureteral stenosis, Ataxia, Hypopigmentation of hair, Corneal opacity, Cataract, ...	ORPHA:2719
Focal Dermal Hypoplasia	Acute hepatic failure, Congenital diaphragmatic hernia, Hypoplasia of the iris, Hernia, Iris colo...	ORPHA:2092
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Short Stature, Microcephaly, And Endocrine Dysfunction	Abnormal circulating lipid concentration, Inguinal hernia, Ataxia, Broad-based gait, Unilateral r...	OMIM:616541
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Omenn Syndrome	Hepatomegaly, Alopecia, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopa...	ORPHA:39041
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Elevated hepatic transaminase, Ventriculomegaly, Dystonia, Hypospadias, Ataxia, Small for gestati...	OMIM:615471
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac...	OMIM:610202
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene...	ORPHA:53
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Microvesicular hepatic steatosis, Decreased CSF biopterin level, Reduced bone mineral density, De...	ORPHA:404454
Triploidy	Omphalocele, Hepatomegaly, Hypoplasia of penis, Cataract, Hypospadias, Abnormality of the pancrea...	ORPHA:3376
Congenital Analbuminemia	Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Sparse hair, Alopecia, Palmoplantar keratoderma, Abnormal fingernail morphology	ORPHA:659
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Tran...	ORPHA:40923
Vitreoretinochoroidopathy	Retinal detachment, Pulverulent cataract, Developmental cataract, Microcornea, Vitreous hemorrhag...	OMIM:193220
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Decreased testicular size, Thin eyebrow	ORPHA:3242
Centrifugal Lipodystrophy	Alopecia	ORPHA:90156
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Methylmalonic Acidemia With Homocystinuria	Lethargy, Hydrocephalus, Failure to thrive, Gait disturbance	ORPHA:26
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis	ORPHA:66661
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Leukocytosis, Osteoporosis, Lymp...	ORPHA:98849
Phacoanaphylactic Uveitis	Hypopyon, Keratitis, Abnormal pupil morphology, Hyphema, Abnormal corneal endothelium morphology,...	ORPHA:209959
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormality of the spleen, Hepatic fibrosis, Bacterial endocarditis, Ecchymosis, Papilledema, Hep...	ORPHA:2072
Relapsing Fever	Abnormal bleeding, Elevated hepatic transaminase, Tachycardia, Neutrophilia, Epistaxis, Elevated ...	ORPHA:91547
Trisomy 17P	Hypoplasia of penis, Urethral valve, Cataract, Hydrocephalus, Flexion contracture, Urethral steno...	ORPHA:261290
Rapp-Hodgkin Syndrome	Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive...	OMIM:129400
Chudley-Mccullough Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:604213
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Uveal Melanoma	Retinal detachment, Iris melanoma, Inferior lens subluxation, Vitreous hemorrhage, Zonular catara...	ORPHA:39044
Adenocarcinoma Of The Esophagus	Obesity, Lymphadenopathy	ORPHA:99976
Williams-Beuren Region Duplication Syndrome	Small for gestational age, Unilateral renal agenesis, Hydrocephalus, Long eyelashes, Gait disturb...	OMIM:609757
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Cardiomegaly, Ventricular tachycardia, Atrioventricular block, Re...	ORPHA:137675
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Telecanthus, Ventricular septal defect, Hydrocephalus, Abnormal localization of kidney, Mitral re...	ORPHA:83473
Menkes Disease	Sparse hair, Alopecia, Brittle hair	OMIM:309400
Oculomaxillofacial Dysostosis	Corneal opacity, Camptodactyly of finger, Abnormal eyelid morphology, Abnormal eyelash morphology...	ORPHA:1794
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Anorexia, Leu...	ORPHA:50918
Fucosidosis	Hepatomegaly, Thick eyebrow, Failure to thrive, Cardiomegaly, Splenomegaly, Vacuolated lymphocyte...	OMIM:230000
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Epidermal hyperkeratosis, Absent e...	OMIM:137940
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia	ORPHA:88630
Muscle-Eye-Brain Disease	Cataract, Elevated circulating creatine kinase concentration, Hydrocephalus, Meningocele, Optic a...	ORPHA:588
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Renal interst...	ORPHA:91500
Mucopolysaccharidosis, Type Ivb	Joint laxity, Hepatomegaly, Inguinal hernia, Ataxia, Corneal opacity, Grayish enamel, Joint stiff...	OMIM:253010
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Hydroureter, Ataxia, Cataract, Megaloblastic anemia, Tr...	OMIM:222300
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of C...	ORPHA:169154
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Patc...	OMIM:615387
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating...	OMIM:620282
22Q11.2 Deletion Syndrome	Abnormal eyelid morphology, Hypoplasia of the thymus, Hypocalcemia, Vesicoureteral reflux, Atrial...	ORPHA:567
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Hyperconvex fingernails, Alopecia, Hypoplastic fingernail	ORPHA:257
Chromosome Xq13 Duplication Syndrome	Medial flaring of the eyebrow, Ptosis, Hyperactivity, Epicanthus, Highly arched eyebrow, Autoimmu...	OMIM:301069
Papillary Tumor Of The Pineal Region	Abnormal eyelid morphology, Hydrocephalus, Cognitive impairment, Difficulty walking, Episodic ata...	ORPHA:251915
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Arthritis, B lymphocytopenia,...	ORPHA:397596
Emanuel Syndrome	Inguinal hernia, Torticollis, Ventricular septal defect, Truncus arteriosus, Congenital diaphragm...	OMIM:609029
Fried Syndrome	Hydrocephalus, Gait disturbance, Aggressive behavior	ORPHA:85335
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Encephalocele, Alopecia, Failure to thrive, Cataract, Abnormal pulmo...	ORPHA:974
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Sagittal craniosynostosis, Dandy-Walker malformation	OMIM:123155
Williams Syndrome	Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase conc...	ORPHA:904
Carpenter Syndrome 1	Microcornea, Atrial septal defect, Spina bifida occulta, Sagittal craniosynostosis, Obesity, Tran...	OMIM:201000
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Ventriculomegaly, Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Hepati...	OMIM:304790
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Ventriculomegaly, Petechiae, Akinesia, Cardiomegaly, Progressive neurologic deterio...	OMIM:608013
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Inguinal hernia, Papilledema, Abnormal heart valve morphology, Abnormality of retin...	OMIM:309900
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Trichorrhexis nodosa, Small nail, Pili torti, Fragile nails, Sparse lateral eyebrow	OMIM:261990
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyngeal dysphagia, Weight loss, Elevated...	ORPHA:100083
Pearson Syndrome	Renal cyst, Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytos...	ORPHA:699
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hypospadias, Renal agenesis, Craniosynostosis, Hydrocephalus, Renal hypoplasia, Obesity, Radiouln...	ORPHA:171839
Ophthalmomandibulomelic Dysplasia	Corneal opacity, Camptodactyly of finger, Limitation of joint mobility, Radioulnar synostosis, Ab...	ORPHA:2741
Craniofaciofrontodigital Syndrome	Osteopenia, Bicuspid aortic valve, Cardiomegaly, Large for gestational age, Low anterior hairline...	ORPHA:363705
Short Syndrome	Alopecia, Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Corneal opacity, Pos...	ORPHA:3163
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity	ORPHA:90654
Joubert Syndrome 14	Encephalocele, Epicanthus, Ataxia, Ventricular septal defect, Highly arched eyebrow, Hydrocephalu...	OMIM:614424
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Renal cyst, Neutropenia, Vesicoureteral reflux, Joint contracture, Patent f...	OMIM:618460
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Hydrocep...	ORPHA:163596
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Sudden c...	OMIM:201475
Immunodeficiency, Common Variable, 2	Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Conjunctivitis	OMIM:240500
Encephalocraniocutaneous Lipomatosis	Alopecia, Dandy-Walker malformation, Ventricular septal defect, Sclerocornea, Limbal dermoid, Hyd...	OMIM:613001
Graft Versus Host Disease	Elevated hepatic transaminase, Fasciitis, Tachycardia, Dupuytren contracture, Lipodystrophy, Limi...	ORPHA:39812
Lathosterolosis	Elevated hepatic transaminase, Epicanthus, Cataract, Bilobate gallbladder, Increased mean platele...	OMIM:607330
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Adrenal hyperplasia, Hirsutism	OMIM:615830
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Waddling gait, Cataract, Elevated circulating creatine kinase concentration, Congestive heart fai...	ORPHA:52430
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bicuspid aortic valve, Synophrys, Tics, Compulsive behaviors, Micropenis, Decreased body weight, ...	OMIM:619475
Walker-Warburg Syndrome	Retinal detachment, Hypoplasia of penis, Ventriculomegaly, Corneal opacity, Cataract, Hydrocephal...	ORPHA:899
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Epicanthus, Craniosynostosis, Hydrocephalus, Umbilical hernia, Downslanted palpebral fissures	ORPHA:1516
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Narrow palpebral fissure, Truncal ataxia, Aortic valve s...	OMIM:220220
Sarcoidosis	Abnormal cerebrospinal fluid morphology, Heart block, Increased T cell count, Ventricular tachyca...	ORPHA:797
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Lymphadenopathy, Hepatosplenomegaly	OMIM:618261
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormality of the spleen...	ORPHA:1834
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Microvesicular hepatic steatosis, Hepatic steatosis, Accessory spleen, Hepatomegaly, Lymphadenopa...	OMIM:619418
Tbck-Related Intellectual Disability Syndrome	Neurogenic bladder, Thick eyebrow, Ventricular septal defect, Ventriculomegaly, Corneal opacity, ...	ORPHA:488632
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Cardiomegaly, Pericardial effusion, Optic atrophy, Hyperammonemia, Bra...	OMIM:614702
Scheie Syndrome	Aortic regurgitation, Hepatomegaly, Corneal opacity, Joint stiffness, Splenomegaly, Limitation of...	ORPHA:93474
Omenn Syndrome	Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, L...	OMIM:603554
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Hydrocephalus, Elevated circulating c...	OMIM:619111
Liver Disease, Severe Congenital	Dry hair, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Amin...	OMIM:619991
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Telecanthus, Ventricular septal defect, Hypospadias, Small for gestational age, Cardi...	OMIM:616897
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Renal insufficiency, Glomerulopathy, Abnormal heart valve morphology, Proteinuria, ...	ORPHA:36412
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Minimal change glomerulonephritis, Pulmonary embolism, Hyperlipidemia, Chronic k...	ORPHA:567546
Distal Triplication 15Q	Telecanthus, Abnormality of the kidney, Craniosynostosis, Large for gestational age, Corneal dyst...	ORPHA:314588
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Petechiae, Hypospadias, Thrombocytopenia, Hydro...	OMIM:617053
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Failure to thrive,...	OMIM:618495
Porphyria Cutanea Tarda	Abnormal circulating porphyrin concentration, Elevated hepatic iron concentration, Hepatic steato...	ORPHA:101330
Optic Atrophy 11	Hyperactivity, Ataxia, Optic nerve hypoplasia, Splenomegaly, Gait apraxia, Optic atrophy, Dysmetr...	OMIM:617302
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased proportion of memory T cells, Increased B cell count, Lymphadenopathy, Hepatosplenomegaly	OMIM:618982
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, Ataxia, Iris hypopigmentation, Abnormality of neutrophils, Hydrocephalus, White hair, O...	ORPHA:2720
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Fanconi Anemia, Complementation Group D2	Ectopic kidney, Reticulocytopenia, Neutropenia, Micropenis, Pelvic kidney, Renal duplication, Ann...	OMIM:227646
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Anorexia, Knee osteoarthrit...	ORPHA:1304
Congenital Disorder Of Glycosylation, Type Im	Sparse eyebrow, Hyperkeratosis, Alopecia, Sparse eyelashes	OMIM:610768
Peroxisome Biogenesis Disorder 1A (Zellweger)	Subependymal cysts, Aminoaciduria, Loss of ambulation, Intrahepatic biliary dysgenesis, Hepatomeg...	OMIM:214100
Attrv122I Amyloidosis	Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr...	ORPHA:85451
Intellectual Developmental Disorder, X-Linked 30	Short attention span, Hyperactivity, Restlessness, Aggressive behavior, Hydrocephalus, Upslanted ...	OMIM:300558
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology	ORPHA:3453
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Elevated circulating creatine kinase concentration, Intraventricular h...	OMIM:619055
Tay-Sachs Disease	Short attention span, Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, ...	ORPHA:845
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Small for gestational age, Cardiomegaly, Perimembranous ventricular septal defect, A...	OMIM:620135
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Developmental cataract, Retinal dysplasia, Ocular anterio...	ORPHA:324416
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Retinal detachment, Occipital encephalocele, Cataract, Optic nerve hypo...	ORPHA:370959
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, Failure to thrive, Absence of lymph node germinal center, T lymphocytopenia, B lymph...	ORPHA:277
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Joint laxity, Hyperactivity, Epicanthus, Hypospadias, Optic nerve hypoplasia, Hyperopic astigmati...	ORPHA:363686
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Chanarin-Dorfman Syndrome	Alopecia	OMIM:275630
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Renal cyst, Micropenis, Pelvic kidney, Abnormal repetitive mannerisms, Hypospadias, Astigmatism, ...	ORPHA:464311
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Elevated hepatic transaminase, Broad-based gait, Multiple joint contractures, Hypospa...	ORPHA:2959
Morquio Syndrome C	Corneal opacity	OMIM:252300
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho...	OMIM:301078
Congenitally Uncorrected Transposition Of The Great Arteries	Cardiac shunt, Cardiomegaly, Dextrotransposition of the great arteries, Abnormality of blood circ...	ORPHA:860
3C Syndrome	Inguinal hernia, Hypoplasia of penis, Ventricular septal defect, Abnormal mitral valve morphology...	ORPHA:7
Tenorio Syndrome	Osteopenia, Joint laxity, Ventriculomegaly, Telecanthus, Raynaud phenomenon, Hydrocephalus, Enure...	OMIM:616260
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Hypoplasia of penis, Telangiectasia of the skin, Epicanthus, Telecant...	ORPHA:99812
Osteootohepatoenteric Syndrome	Proteinuria, Recurrent fractures, Microvesicular hepatic steatosis, Hydrocephalus, Grade II vesic...	OMIM:619377
Mucoepithelial Dysplasia, Hereditary	Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Follicular hyperkeratosis, Sparse hair, Ch...	OMIM:158310
Emanuel Syndrome	Inguinal hernia, Multiple joint contractures, Ventricular septal defect, Truncus arteriosus, Cong...	ORPHA:96170
Hajdu-Cheney Syndrome	Osteopenia, Synophrys, Low anterior hairline, Coarse hair, Hernia, Decreased skull ossification, ...	ORPHA:955
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Abnormal pulmonary valve morphology, Craniosynostosis, Abnormality of hair texture,...	ORPHA:667
Cantu Syndrome	Epicanthus, Bicuspid aortic valve, Curly eyelashes, Cardiomegaly, Pericardial effusion, Large for...	OMIM:239850
Metatropic Dysplasia	Cataract, Camptodactyly of finger, Abnormal enchondral ossification, Joint stiffness, Hydrocephal...	ORPHA:2635
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Synophrys, Lobar holoprosencephaly, Ups...	OMIM:609637
Alexander Disease	Ataxia, Hydrocephalus, Dysmetria, Microcoria, Increased CSF protein concentration	OMIM:203450
Johnson Neuroectodermal Syndrome	Sparse hair, Absent eyebrow, Alopecia, Absent eyelashes	ORPHA:2316
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Renal cyst, Atrial septal defect, Hepatoblastoma, Hepatomegaly, ...	OMIM:312870
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Acantholysis, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alo...	ORPHA:158687
Rosaï-Dorfman Disease	Osteolysis, Anemia, Lymphadenopathy	ORPHA:158014
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Lipodystrophy, Elevated circulating C-reactive protein concentration, Ly...	OMIM:618048
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy, Arthritis	ORPHA:42642
Exudative Vitreoretinopathy 1	Retinal detachment, Recurrent fractures, Vitreous hemorrhage, Retinal neovascularization, Subcaps...	OMIM:133780
Sitosterolemia 1	Abnormal bleeding, Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, ...	OMIM:210250
Bartsocas-Papas Syndrome	Corneal opacity, Alopecia totalis, Renal hypoplasia/aplasia, Ankyloblepharon, Sparse or absent ey...	ORPHA:1234
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis	ORPHA:157991
Aregenerative Anemia	Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Depres...	ORPHA:101096
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent...	OMIM:136120
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Inguinal hernia, Tricuspid regurgitation, Corneal opacity, Joint stiffness, Splenom...	OMIM:253200
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Alopecia, Proteinuria, Raynaud phenomenon, Pericardial effusion,...	ORPHA:93552
Endocrine-Cerebroosteodysplasia	Ventriculomegaly, Hypospadias, Hydrocephalus, Ankyloblepharon, Holoprosencephaly, Microphallus, H...	OMIM:612651
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Elevated circulating creatine kinase...	OMIM:617713
Autoimmune Hypoparathyroidism	Prolonged QT interval, Calcium nephrolithiasis, Increased bone mineral density, Cataract, Confusi...	ORPHA:36913
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Hyperactivity, Epicanthus, Ventricular septal defect, Hypospadias, Craniosy...	ORPHA:254346
Holoprosencephaly	Hypoplasia of penis, Congenital diaphragmatic hernia, Abnormality of the spleen, Synophrys, Holop...	ORPHA:2162
Coccidioidomycosis	Abnormality of the spleen, Abnormality of the liver, Abnormality of the kidney, Abscess, Mediasti...	ORPHA:228123
Fucosidosis	Hepatomegaly, Lipoatrophy, Corneal opacity, Cardiomegaly, Abnormality of the gallbladder, Mucopol...	ORPHA:349
Fanconi Anemia	Abnormal eyelid morphology, Reduced bone mineral density, Leukopenia, Abnormality of the liver, A...	ORPHA:84
Adams-Oliver Syndrome 2	Alopecia, Low anterior hairline, Small nail	OMIM:614219
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Hypospadias, Hydrocephalus, Double outlet right ventricle, Low posteri...	OMIM:220210
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B ...	OMIM:150550
Leigh Syndrome	Multiple joint contractures, Progressive neurologic deterioration, Choreoathetosis, Complex organ...	ORPHA:506
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Long palpebral fissure, Downslanted palpeb...	OMIM:602562
Mucopolysaccharidosis Type 4	Abnormal heart valve morphology, Abnormal dental enamel morphology, Corneal opacity, Grayish enam...	ORPHA:582
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden...	ORPHA:545
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Vesicoureteral reflux, Axial malrotation of the kidney, Atrial septal defec...	OMIM:274000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Retinal detachment, Exaggerated startle response, Cataract, Elevated circulating c...	OMIM:253800
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Dystonia, Ataxia, Tremor, Glutaric aciduria, Chronic kidney disease,...	ORPHA:25
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Agel Amyloidosis	Deficit in phonologic short-term memory, Cataract, Proteinuria, Ataxia, Bilateral ptosis, Stage 5...	ORPHA:85448
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Cataract, Ataxia, Elevated circulating creat...	ORPHA:79095
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal...	ORPHA:79124
Pmm2-Cdg	Osteopenia, Multiple joint contractures, Intracranial hemorrhage, Hypoalbuminemia, Hepatic fibros...	ORPHA:79318
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Lymphadenopathy, Failure to thrive, Reduced natural killer cell count	OMIM:609981
Pleural Mesothelioma	Hepatomegaly, Abnormal cardiovascular system physiology, Weight loss, Lymphadenopathy, Dysphagia	ORPHA:50251
Fg Syndrome Type 1	Limited elbow extension and supination, Inguinal hernia, Broad-based gait, Progressive flexion co...	ORPHA:93932
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus, Telecanthus, Corneal opacity, Craniosynostosis, Unilateral renal age...	ORPHA:1064
Masa Syndrome	Hydrocephalus, Shuffling gait, Ventriculomegaly	OMIM:303350
Cockayne Syndrome A	Dry hair, Tremor, Ivory epiphyses of the phalanges of the hand, Sparse hair, Micropenis, Loss of ...	OMIM:216400
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepato...	ORPHA:99931
Mucopolysaccharidosis Type 2, Attenuated Form	Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoi...	ORPHA:217093
Beck-Fahrner Syndrome	Ventricular septal defect, Joint hypermobility, Lacrimal duct stenosis, Cardiomegaly, Depression,...	OMIM:618798
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, ...	ORPHA:508
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Sparse hair, Hyperkeratosis, Alopecia, Abnormal toenail morphology	ORPHA:1005
Scheie Syndrome	Aortic regurgitation, Aortic valve stenosis, Corneal opacity, Retinal degeneration	OMIM:607016
Mucopolysaccharidosis Type 7	Inguinal hernia, Corneal opacity, Joint stiffness, Splenomegaly, Hepatitis, Epiphyseal stippling,...	ORPHA:584
Satoyoshi Syndrome	Abnormal hair morphology, Sparse or absent eyelashes, Hypoplasia of the ovary, Abnormality of the...	ORPHA:3130
Brittle Cornea Syndrome 2	Keratoconus, Inguinal hernia, Flat cornea, Recurrent fractures, Sclerocornea, Keratoglobus, Gait ...	OMIM:614170
Flynn-Aird Syndrome	Alopecia	ORPHA:2047
Hutchinson-Gilford Progeria Syndrome	Alopecia	OMIM:176670
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Renal insufficiency, Cataract, Renal cyst, Opisthotonus, Nephrocal...	ORPHA:445038
Aicardi-Goutières Syndrome	Multiple joint contractures, Cardiomegaly, Tremor, Chronic CSF lymphocytosis, Eyelid coloboma, Mi...	ORPHA:51
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Leukocytosis, Sp...	OMIM:603903
Q Fever	Anorexia, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis, Hepatomega...	ORPHA:781
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Alopecia, Supernumerary nipple	ORPHA:3224
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Sparse hair, Atrial septal defect, Absent ey...	OMIM:115150
7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Dysmetria, Abnormal optic disc morphology, Atrial septal defect,...	ORPHA:96121
Mucopolysaccharidosis Type 2, Severe Form	Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoi...	ORPHA:217085
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Occipital encephalocele, Retinal atrophy, Ventriculomegaly, Elevated circulat...	OMIM:236670
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Oromandibular dystonia, Compulsive behaviors,...	ORPHA:2388
Nephronophthisis 18	Hydrocephalus, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Cholestasi...	OMIM:615862
3-Methylglutaconic Aciduria, Type Viib	Abnormal bleeding, Dystonia, Ataxia, Cataract, Tremor, Congestive heart failure, Flexion contract...	OMIM:616271
Retinoblastoma	Hypopyon, Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema,...	ORPHA:790
Oculocerebrocutaneous Syndrome	Alopecia, Ventriculomegaly, Corneal opacity, Congenital diaphragmatic hernia, Hydrocephalus, Eyel...	ORPHA:1647
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic ...	OMIM:614096
De Barsy Syndrome	Osteopenia, Inguinal hernia, Cataract, Lipodystrophy, Ventricular septal defect, Corneal opacity,...	ORPHA:2962
Brachyolmia Type 1, Toledo Type	Precocious costochondral ossification, Increased urinary disaccharide excretion, Gait disturbance...	OMIM:271630
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Curly hair, Hyperactivity, Epicanthus, Aggressive behavior, Sparse eyebrow, Hyposegmentation of n...	OMIM:620075
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, M...	OMIM:256040
Vici Syndrome	Elevated circulating creatine kinase concentration, Albinism, T lymphocytopenia, Leukopenia, Abno...	OMIM:242840
Jacobsen Syndrome	Epicanthus, Telecanthus, Hypospadias, Ventricular septal defect, Abnormal eyelash morphology, Hyd...	OMIM:147791
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Pericardial effusion, Hematochezia, Hypoalbuminemia...	OMIM:618183
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
Caspase 8 Deficiency	Splenomegaly, Failure to thrive, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e...	ORPHA:2399
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Hip contracture, Thin bony cortex, Peripheral opacification of the cornea, Corneal op...	OMIM:259600
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Cataract, Ventricular septal defect, Abnormal r...	ORPHA:488618
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Optic disc pallor, Hyperactivity, Multiple joint contractures, Ventricular ...	ORPHA:464306
Gracile Bone Dysplasia	Failure to thrive, Asplenia, Hydrocephalus, Micropenis, Hypocalcemia, Aniridia, Hypoplastic splee...	OMIM:602361
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	ORPHA:85414
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Periostosis, Hyperostosis, Hypoalbuminemia	OMIM:614441
Gomez-Lopez-Hernandez Syndrome	Alopecia, Hyperactivity, Ataxia, Craniosynostosis, Depression, Self-injurious behavior, Cognitive...	OMIM:601853
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy...	ORPHA:906
Central Precocious Puberty In Male	Hydrocephalus, Abnormality of secondary sexual hair, Attention deficit hyperactivity disorder, Ag...	ORPHA:649929
Syndromic Diarrhea	Brittle hair, Bicuspid aortic valve, Abnormality of the liver, Hypoplasia of the thymus, Hepatic ...	ORPHA:84064
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Cataract, Optic nerve hypoplasia, Elevated circulating creatine kinase concen...	OMIM:615181
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Hepatoblastoma, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis,...	OMIM:130650
Juvenile Xanthogranuloma	Hyphema, Asymmetry of iris pigmentation, Myeloproliferative disorder, Iritis, Blepharitis	ORPHA:158000
Agammaglobulinemia, X-Linked	Recurrent urinary tract infections, Hepatocellular carcinoma, Enteroviral hepatitis, Cor pulmonal...	OMIM:300755
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Cryptorchidism, Alopecia, Fine hair	ORPHA:228390
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Overweight, Hydrocephalus, Flexion contracture, ...	OMIM:616222
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Camptodactyly of finger, Unilateral renal agenesis, Highly arched eyebrow, Secundum atrial septal...	OMIM:619951
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes	OMIM:616367
Bresek Syndrome	Cryptorchidism, Alopecia, Decreased testicular size	ORPHA:85284
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Poems Syndrome	Sclerosis of hand bone, Papilledema, Thrombocytosis, Lipodystrophy, Sclerosis of foot bone, Peric...	ORPHA:2905
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Alopecia, Lipodystrophy, Corneal opacity, Abnormal nasolacrimal system...	ORPHA:2396
6P22 Microdeletion Syndrome	Epicanthus, Hydrocephalus, Hydronephrosis, Hernia	ORPHA:251046
Krabbe Disease	Failure to thrive, Autoimmune thrombocytopenia, Hydrocephalus, Optic atrophy, Motor deterioration...	OMIM:245200
Cockayne Syndrome B	Dry hair, Tremor, Ivory epiphyses of the phalanges of the hand, Microcornea, Hypoplasia of the ir...	OMIM:133540
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, H...	OMIM:615122
Proboscis Lateralis	Abnormal morphology of bony orbit of skull, Microcornea, Eyelid coloboma, Abnormality of the ocul...	ORPHA:141099
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec...	OMIM:618935
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Tremor, Congenital malformation of the left heart, Wide penis, Synophrys, Vesicourete...	ORPHA:3455
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Ataxia, Cardiomegaly, Congestive heart failure, Unsteady gait, Optic atrophy, Limb ataxia, Gait a...	OMIM:619259
Lathosterolosis	Hepatomegaly, Hypoplasia of penis, Cataract, Epicanthus, Intrahepatic cholestasis, Meningocele, A...	ORPHA:46059
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis, Lymphadenopathy	OMIM:617772
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Spa...	OMIM:602400
Amyloidosis, Hereditary, Transthyretin-Related	Ptosis, Ataxia, Urinary incontinence, Confusion, Cardiomegaly, Tremor, Limb ataxia, Cardiomyopath...	OMIM:105210
Scrub Typhus	Abnormal bleeding, Renal insufficiency, Tremor, Myocarditis, Splenomegaly, Lymphadenopathy, Hypot...	ORPHA:83317
Behçet Disease	Myocardial infarction, Pulmonary embolism, Anorexia, Glomerulopathy, Ataxia, Confusion, Vasculiti...	ORPHA:117
Sneddon Syndrome	Bicuspid aortic valve, Cerebral hemorrhage, Tremor, Hypertension, Atrophic scars, Ischemic stroke...	OMIM:182410
Rabin-Pappas Syndrome	Hyponatremia, Retinal detachment, Cataract, Failure to thrive in infancy, Optic nerve hypoplasia,...	OMIM:620155
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia	OMIM:600785
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormalit...	ORPHA:79456
Intellectual Developmental Disorder, Autosomal Recessive 68	Small for gestational age, Synophrys, Hydrocephalus, Narrow palpebral fissure, Broad eyebrow	OMIM:618302
Chime Syndrome	Epicanthus, Ventricular septal defect, Abnormality of the kidney, Corneal opacity, Tetralogy of F...	ORPHA:3474
Diencephalic Syndrome	Cachexia, Hydrocephalus, Long penis, Optic atrophy, Decreased body weight	ORPHA:1672
Sjogren-Larsson Syndrome	Retinal pigment epithelial atrophy, Opacification of the corneal epithelium, Flexion contracture,...	OMIM:270200
Hogue-Janssen Syndrome 2	Joint hypermobility, Unilateral renal agenesis, Inability to walk, Abnormal hair whorl, Hydroceph...	OMIM:616362
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Medial flaring of the eyebrow, Short attention span, Tricuspid regu...	OMIM:612863
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB...	OMIM:232300
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Inability to walk, Hydrocephalus, Optic atrophy, Ataxia	OMIM:618174
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Nephropathy, Arrhythmia, Abnor...	ORPHA:85447
Intellectual Developmental Disorder, Autosomal Dominant 65	Ataxia, Aggressive behavior, Synophrys, Noncommunicating hydrocephalus, Low posterior hairline, U...	OMIM:619320
Edinburgh Malformation Syndrome	Joint stiffness, Brushfield spots, Hydrocephalus, Synophrys, Low posterior hairline, Failure to t...	ORPHA:1895
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulati...	OMIM:612852
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	ORPHA:3261
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Multicystic kidney dysplasia, Ventriculomegaly, Corneal opacity, Cataract, ...	ORPHA:1052
Neurofibromatosis Type 1	Abnormal hair quantity, Abnormality of retinal pigmentation, Cataract, Ataxia, Corneal opacity, A...	ORPHA:636
Cutis Laxa, Autosomal Dominant 3	Aortic regurgitation, Osteopenia, Joint laxity, Corneal opacity, Unilateral renal agenesis, Devel...	OMIM:616603
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Ataxia, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Abnormality of the liver...	ORPHA:254892
Boutonneuse Fever	Elevated hepatic transaminase, Renal insufficiency, Petechiae, Cervical lymphadenopathy, Vasculit...	ORPHA:83313
Keutel Syndrome	Alopecia	ORPHA:85202
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrh...	ORPHA:3260
Greig Cephalopolysyndactyly Syndrome	Telecanthus, Craniosynostosis, Congenital diaphragmatic hernia, Hydrocephalus, Umbilical hernia	ORPHA:380
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Exaggerated startle response, Ataxia, Urinary incontinence...	OMIM:268800
Kury-Isidor Syndrome	Alopecia, Hypertrichosis	OMIM:619762
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Hirsutism, Enlarged kidney	ORPHA:90301
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Failure to thrive, Multiple muscular ventricular septal defects, Hypoalbuminemia, Pulmonic stenos...	OMIM:615508
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Cataract, Optic atrophy	OMIM:615191
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Osteoarthritis, Reduced bone mineral density, Intracranial hemorrhage, Sha...	ORPHA:740
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Peritoniti...	ORPHA:2686
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated cir...	OMIM:614921
Denys-Drash Syndrome	Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, Epicanthus, Congenital diaphrag...	OMIM:194080
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Ptosis, Urinary incontinence, Subarachnoid hemor...	ORPHA:2356
Knobloch Syndrome	Retinal detachment, Occipital encephalocele, Cataract, Epicanthus, Dextrocardia, Ectopia lentis, ...	ORPHA:1571
Corneal Dystrophy, Reis-Bucklers Type	Palpebral edema, Corneal opacity, Corneal dystrophy, Corneal erosion, Opacification of the cornea...	OMIM:608470
Sanjad-Sakati Syndrome	Hypoplasia of penis, Corneal opacity, Abnormal dental enamel morphology, Patchy osteosclerosis, H...	ORPHA:2323
Monosomy 18P	Alopecia, Low posterior hairline	ORPHA:1598
Macrocephaly/Autism Syndrome	Joint laxity, Hepatomegaly, Short attention span, Epicanthus, Penile freckling, Large for gestati...	OMIM:605309
Neurooculocardiogenitourinary Syndrome	Epicanthus, Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Peters anomaly, Atr...	OMIM:618652
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Sparse scalp hair, Epicanthus, Hydrocephalus, Low posterior hairline, Pulmonic stenosis, Hypertro...	ORPHA:2701
Thanatophoric Dysplasia Type 2	Encephalocele, Abnormality of the kidney, Hydrocephalus, Limitation of joint mobility, Joint hype...	ORPHA:93274
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased s...	OMIM:616959
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Sideroblastic anemia, Brittle hair, Ataxia, Splenomegaly, Schistocyt...	OMIM:616084
Congenital Myopathy 8	Congestive heart failure, Cardiomegaly	OMIM:618654
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m...	ORPHA:615
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspart...	OMIM:613154
Mucopolysaccharidosis Type 6	Abnormal heart valve morphology, Joint stiffness, Splenomegaly, Mucopolysacchariduria, Cognitive ...	ORPHA:583
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Eunuchoid habitus, Joint hypermobility, Cardiomegaly, Synophrys, Abnormality of the p...	ORPHA:2463
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Alopecia, Hyperphosphaturia, Corneal opacity, Recurrent fractures, Horseshoe kidney, ...	OMIM:163200
Vitreoretinopathy, Neovascular Inflammatory	Retinal detachment, Peripheral retinal neovascularization, Vitreous hemorrhage, Posterior retinal...	OMIM:193235
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Cryptorchidism, Patchy alopecia, Decreased testicular size	ORPHA:85279
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Lateral ventricular asymmetry, Hyperextensibility of the fin...	OMIM:616914
Hydrocephalus-Obesity-Hypogonadism Syndrome	Sparse facial hair, Absent facial hair, Hydrocephalus, Obesity, Low posterior hairline, Mitral va...	ORPHA:2183
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Hepatomegaly, Alopecia, Absent eyebrow, Splenomegaly, Jaundice, Los...	OMIM:263700
Hajdu-Cheney Syndrome	Osteopenia, Synophrys, Renal cyst, Iris coloboma, Joint laxity, Hypospadias, Osteoporosis, Umbili...	OMIM:102500
Axenfeld-Rieger Syndrome, Type 2	Inguinal hernia, Telecanthus, Hypospadias, Hydrocephalus, Abnormal heart morphology, Microcornea,...	OMIM:601499
Mogs-Cdg	Hepatomegaly, Alopecia, Fair hair, Cardiomegaly, Hirsutism, Optic atrophy, Hepatosplenomegaly, Lo...	ORPHA:79330
Osteogenesis Imperfecta	Osteopenia, Osteoarthritis, Flexion contracture, Loss of ambulation, Decreased skull ossification...	ORPHA:666
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Lipodystrophy, Failure to thrive in infancy, Elevated circulating C-reactive protei...	OMIM:617099
Holocarboxylase Synthetase Deficiency	Alopecia	ORPHA:79242
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Palm...	OMIM:106260
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc...	OMIM:619846
Dubowitz Syndrome	Sparse scalp hair, Ptosis, Cataract, Hypospadias, Epicanthus, Abnormality of neutrophils, Cranios...	ORPHA:235
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Encephalocele, Pancreatic f...	ORPHA:564
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus, Truncal ataxia	OMIM:220200
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Emot...	OMIM:608643
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Congenital-Onset Steinert Myotonic Dystrophy	Bradyphrenia, Bundle branch block, Short attention span, Hyperactivity, Cataract, First degree at...	ORPHA:589821
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele, Congenital diaphragmatic hernia, Attention deficit hyperact...	ORPHA:261102
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Cataract, Ataxia, Conjugated hyperbilirubinemia, Splenomegaly, In...	OMIM:608885
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Sclerocornea, Holoprosencephaly, Atrial sep...	ORPHA:818
Marden-Walker Syndrome	Epispadias, Abnormal penis morphology, Multicystic kidney dysplasia, Hypospadias, Abnormality of ...	ORPHA:2461
Mitochondrial Complex I Deficiency, Nuclear Type 36	Optic disc pallor, Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyper...	OMIM:619170
8Q21.11 Microdeletion Syndrome	Ptosis, Hypoplasia of penis, Cataract, Corneal opacity, Camptodactyly of finger, Sclerocornea, Ep...	ORPHA:284160
Alagille Syndrome 1	Multiple small medullary renal cysts, Microcornea, Vesicoureteral reflux, Atrial septal defect, A...	OMIM:118450
Otopalatodigital Syndrome Type 2	Omphalocele, Encephalocele, Increased bone mineral density, Cataract, Abnormal heart valve morpho...	ORPHA:90652
Vitamin K Antagonist Embryofetopathy	Cataract, Myelomeningocele, Hydrocephalus, Optic atrophy, Epiphyseal stippling	ORPHA:1914
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Osteopenia, Cataract, Splenomegaly, Inability to walk, Optic atrophy, R...	OMIM:617913
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cataract, Foot joint contractur...	ORPHA:90321
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Elevated hepatic transaminase, Proteinuria, Raynaud phenomenon, Micr...	OMIM:192315
Distal Deletion 6P	Posterior embryotoxon, Epicanthus, Corneal opacity, Hypoplasia of the iris, Self-injurious behavi...	ORPHA:96125
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Recurrent fractures, Abnormal lymph node morphology, Papil...	ORPHA:97290
1Q21.1 Microdeletion Syndrome	Inguinal hernia, Cataract, Epicanthus, Hydrocephalus, Depression, Joint hyperflexibility, Abnorma...	ORPHA:250989
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Hyperextensibility of the finger joints, Ventricular septal defect, Hypospadi...	ORPHA:163979
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Absent peripheral lymph nodes in presence of infection, Increased T cell count, Nail ...	ORPHA:98813
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven...	ORPHA:3092
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Cataract, Portal hyper...	OMIM:620005
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Ptosis, Intrahepatic cholestasis with episodic jaund...	ORPHA:100085
Stromme Syndrome	Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Hydrocephalus, Bilateral renal ...	OMIM:243605
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Cardiac arrest, Eosino...	ORPHA:139402
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Abnormal trabecular bone morphology, Splenomegaly, Hydrocephalus, Optic atrophy, An...	OMIM:612301
Cerebrotendinous Xanthomatosis	Optic disc pallor, Cataract, Ataxia, Angina pectoris, Myocardial infarction, Osteoporosis, Xanthe...	OMIM:213700
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Transient ischemic attack, Elevated circulating creatine kinase concentration, Card...	ORPHA:365
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Ventriculomegaly, Hypospadias, Nephroblastoma, Small for gestationa...	OMIM:257300
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto...	OMIM:614700
Sting-Associated Vasculopathy, Infantile-Onset	Failure to thrive, Elevated circulating C-reactive protein concentration, Follicular hyperplasia,...	OMIM:615934
Papillorenal Syndrome	Renal cyst, Macular degeneration, Vesicoureteral reflux, Joint laxity, Multicystic kidney dysplas...	OMIM:120330
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Atrial septal d...	OMIM:245600
Cystinosis, Nephropathic	Progressive neurologic deterioration, Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syn...	OMIM:219800
Glutaric Acidemia I	Hepatomegaly, Ketonuria, Glutaric aciduria, Hydrocephalus, Opisthotonus, Choreoathetosis, Lateral...	OMIM:231670
Biemond Syndrome Ii	Hydrocephalus, Iris coloboma	OMIM:210350
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Alopecia, Anterior pituitary hypoplasia	ORPHA:453533
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Cho...	ORPHA:293173
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma, Ataxia, Ventriculomegaly, Dystonia	OMIM:230650
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Nail dystrophy, Nail dysplasia	OMIM:175500
Thanatophoric Dysplasia	Abnormality of the kidney, Joint stiffness, Hydrocephalus, Joint hyperflexibility, Atrial septal ...	ORPHA:2655
Mucopolysaccharidosis, Type Iiid	Synophrys, Coarse hair, Oppositional defiant disorder, Hepatomegaly, Hyperactivity, Hirsutism, In...	OMIM:252940
Desmosterolosis	Increased bone mineral density, Epicanthus, Renal agenesis, Renal hypoplasia/aplasia, Splenomegal...	ORPHA:35107
Crouzon Syndrome	Hydrocephalus, Optic atrophy, Multiple suture craniosynostosis, Conjunctivitis, Iris coloboma, Pt...	ORPHA:207
Pentalogy Of Cantrell	Omphalocele, Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium m...	ORPHA:1335
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Idiopathic Aplastic Anemia	Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi...	ORPHA:88
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac ...	OMIM:115197
Wolf-Hirschhorn Syndrome	Congenital diaphragmatic hernia, Sclerocornea, Hernia, Atrial septal defect, Megalocornea, Iris c...	ORPHA:280
Dextrocardia	Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Hydrocephalus, Abn...	ORPHA:1666
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Generalized joint laxity, Flexion contracture, Atrial se...	ORPHA:536471
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Short attention span, Failure to thrive, Ventricular septal defect, Overweight, Hydrocephalus, He...	OMIM:619575
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Psychomotor deterioration, Inguinal hernia, Lipodystrophy, Thick hair, Subretinal pigment epithel...	ORPHA:357074
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Sparse eyebrow, Cryptorc...	ORPHA:2232
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Craniosynostosis, Hydrocephalus, Frontal encephalocele, Optic atrophy	ORPHA:1528
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
African Trypanosomiasis	Urinary incontinence, Tremor, Choreoathetosis, Conjunctivitis, Iritis, Delirium, Abnormal EKG, He...	ORPHA:3385
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Broad eyebrow, Broad-based gait, Hypospadias, Optic nerve hypoplasia, Corneal dystrophy, Aggressi...	ORPHA:495875
Hemihyperplasia-Multiple Lipomatosis Syndrome	Lipoatrophy, Telangiectasia of the skin, Abnormality of the lymphatic system, Multiple lipomas, N...	ORPHA:276280
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Optic atrophy, Leukocoria, Hy...	OMIM:310600
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Hydrocephalus, Cardiomegaly	OMIM:300886
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity, Coarse metaphyseal trabecularization	OMIM:618961
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Septic ar...	OMIM:617780
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Nephrocal...	OMIM:614473
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Unilambdoid synostosis, Long eyelashes, Ventriculomegaly	OMIM:618577
Koolen-De Vries Syndrome Due To A Point Mutation	Bicuspid aortic valve, Fetal pyelectasis, Vesicoureteral reflux, Atrial septal defect, Renal dupl...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Bicuspid aortic valve, Fetal pyelectasis, Vesicoureteral reflux, Atrial septal defect, Renal dupl...	ORPHA:363958
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Spontaneous hemolytic crises, Ataxia, Cataract, Conjugated hyperbili...	ORPHA:168577
1Q44 Microdeletion Syndrome	Epicanthus, Telecanthus, Synophrys, Hydrocephalus, Horseshoe kidney, Upslanted palpebral fissure,...	ORPHA:238769
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Elevated circulating creatine kinase concentration, Supraventricular arrhyth...	OMIM:611773
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Fasciitis, Elevated circulating C-reactive protein concentration, Splenomegaly, Leu...	ORPHA:32960
Juvenile Polyposis Syndrome	Hematochezia, Hypokalemia, Hypoalbuminemia, Failure to thrive, Anemia	OMIM:174900
Joubert Syndrome With Ocular Defect	Encephalocele, Ataxia, Dextrocardia, Highly arched eyebrow, Tremor, Hydrocephalus, Gait disturban...	ORPHA:220493
Congenital Myopathy 22A, Classic	Waddling gait, Hip contracture, Tricuspid regurgitation, Bilateral ptosis, Achilles tendon contra...	OMIM:620351
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim...	ORPHA:331206
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia	OMIM:618282
Pelvis-Shoulder Dysplasia	Waddling gait, Camptodactyly of finger, Spina bifida, Hydrocephalus, Microcornea, Retinal colobom...	ORPHA:2839
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Mediastinal lym...	ORPHA:83469
Fibrodysplasia Ossificans Progressiva	Alopecia	OMIM:135100
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell ...	OMIM:618987
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Failure to thrive, Impulsivity, Aggressive behavior, Overweight, Hydrocephalus, Flexion contractu...	ORPHA:500055
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Shallow orbits, Megalocornea, Pericardial effusion, Inguinal her...	ORPHA:1272
Pettigrew Syndrome	Ventriculomegaly, Aggressive behavior, Aqueductal stenosis, Hydrocephalus, Flexion contracture, O...	OMIM:304340
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Delayed vertebral ossification, Small for gestational age, Hydrocephalus, Flexion contracture, Ga...	OMIM:613330
Tuberous Sclerosis Complex	Renal cyst, Subependymal nodules, Internal hemorrhage, Hyperactivity, Abnormality of the kidney, ...	ORPHA:805
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Ureteral duplication, Cholangitis, Renal cyst, Macular degeneration, Hepatic fibrosis...	OMIM:266920
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia	OMIM:600142
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Immunodeficiency 87 And Autoimmunity	Elevated circulating C-reactive protein concentration, Atrial septal defect, Atrioventricular can...	OMIM:619573
Ane Syndrome	Alopecia, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, R...	ORPHA:157954
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Widow's peak, Reduction of neutrophil motility, Compulsive behaviors, Cellulitis	OMIM:266265
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Bilateral cryptorchidism, Absent e...	ORPHA:544488
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Cold Agglutinin Disease	Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:56425
Bartsocas-Papas Syndrome 2	Corneal opacity, Antecubital pterygium, Ankyloblepharon, Popliteal pterygium, Axillary pterygium	OMIM:619339
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Pancytopenia, Generalized dystonia, Ataxia, Cataract, Aggressive behavior, Dilated c...	OMIM:618321
Joubert Syndrome With Renal Defect	Encephalocele, Renal insufficiency, Ataxia, Highly arched eyebrow, Tremor, Hydrocephalus, Gait di...	ORPHA:220497
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Hydrocephalus, Abnormal mast cell morphology, Scarring	ORPHA:398189
Multiple Myeloma	Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphaden...	ORPHA:29073
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Pulmonary embolism, Hydroceph...	ORPHA:3205
Mucolipidosis Iii Gamma	Aortic regurgitation, Increased serum beta-hexosaminidase, Joint stiffness, Opacification of the ...	OMIM:252605
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Joint laxity, Hydrocephalus	OMIM:236660
Cardiofaciocutaneous Syndrome	Brittle hair, Sparse hair, Atrial septal defect, Dystrophic fingernails, Abnormal eyelash morphol...	ORPHA:1340
Microphthalmia With Linear Skin Defects Syndrome	Congenital diaphragmatic hernia, Sclerocornea, Abnormal eyelid morphology, Epispadias, Retinal dy...	ORPHA:2556
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Retinal dysplasia, Ventriculomegaly	OMIM:614830
Diabetic Embryopathy	Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality of the pan...	ORPHA:1926
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Ridged fingernail, Abnormality of...	ORPHA:37
Cantú Syndrome	Epicanthus, Abnormal heart valve morphology, Curly eyelashes, Cardiomegaly, Low anterior hairline...	ORPHA:1517
Dural Sinus Malformation	Papilledema, Ataxia, Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrh...	ORPHA:97339
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Elevated circulating creatine kinase concentration, Limited elbow movement, Cardiom...	ORPHA:268
Alexander Disease Type I	Ataxia, Cachexia, Hydrocephalus, Dysphagia, Failure to thrive	ORPHA:363717
Gorlin Syndrome	Vertebral fusion, Epicanthus, Cataract, Telecanthus, Hydrocephalus, Iris coloboma	ORPHA:377
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Cryptorchidism, Small nail	ORPHA:166035
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Tricuspid regurgitation, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Mi...	OMIM:620233
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Cryptorchidism, Fine hair, Premature graying of hair, Nail dysplasia	OMIM:613990
Al-Gazali Syndrome	Osteopenia, Proximal radio-ulnar synostosis, Corneal opacity, Recurrent fractures, Sclerocornea, ...	OMIM:609465
Intellectual Developmental Disorder, Autosomal Dominant 39	Aggressive behavior, Hydrocephalus, Obesity, Polyphagia, Self-mutilation	OMIM:616521
Lymphangiectasia, Intestinal	Abnormal hair morphology, Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia	OMIM:152800
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Nail dystrophy, Nail dysplasia	OMIM:226600
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Generalized lipodys...	OMIM:619183
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus,...	ORPHA:2437
Immunodeficiency, Common Variable, 10	Alopecia totalis, Trachyonychia, Decreased response to growth hormone stimulation test	OMIM:615577
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Anorexia, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fanconi syndr...	OMIM:557000
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Amelogenesis imperfecta, Hypoplasi...	ORPHA:169090
Aicardi-Goutieres Syndrome 7	Generalized lymphadenopathy, Hepatic steatosis, Hemolytic anemia, Hepatomegaly, Pericardial effus...	OMIM:615846
Alpha-N-Acetylgalactosaminidase Deficiency	Cataract, Oligosacchariduria, Cardiomegaly	ORPHA:3137
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Absence of lymph node germinal center, Autoimmune thr...	OMIM:608184
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair, Enamel hypoplasia, Cardiomegaly	OMIM:613576
Nephroblastoma	Weight loss, Hematuria, Hypertension, Lymphadenopathy, Neoplasm of the liver, Aniridia, Nephrobla...	ORPHA:654
Dyskeratosis Congenita	Abnormality of neutrophils, White hair, Premature graying of hair, Sparse hair, Hepatomegaly, Alo...	ORPHA:1775
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Anorexia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Weight loss...	ORPHA:514
Transcobalamin Deficiency	Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop...	ORPHA:859
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Hydrocephalus, Abnorm...	ORPHA:2075
Familial Papillary Or Follicular Thyroid Carcinoma	Papillary renal cell carcinoma, Recurrent fractures, Chronic noninfectious lymphadenopathy, Abnor...	ORPHA:319487
Trichothiodystrophy 3, Photosensitive	Failure to thrive, Brittle hair, Cataract, Developmental cataract, Neutropenia, Tiger tail bandin...	OMIM:616395
Meckel Syndrome, Type 1	Occipital encephalocele, Asplenia, Iris coloboma, Dandy-Walker malformation, Accessory spleen, Ma...	OMIM:249000
Ataxia-Telangiectasia	Conjunctival telangiectasia, Failure to thrive, Ataxia, Elevated circulating alpha-fetoprotein co...	OMIM:208900
Lateral Meningocele Syndrome	Vertebral fusion, Inguinal hernia, Neurogenic bladder, Ventricular septal defect, Bicuspid aortic...	OMIM:130720
Kabuki Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Microcornea, Hypospadias, Highly arched eye...	ORPHA:2322
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Cataract, Pericardial effusion, Hydrocephalus, Upslanted palpebral fissure, Cam...	OMIM:617822
Fryns Syndrome	Omphalocele, Multicystic kidney dysplasia, Ventriculomegaly, Hypospadias, Corneal opacity, Congen...	ORPHA:2059
Hyperlysinemia	Short attention span, Hyperactivity, Failure to thrive, Abnormal CSF ornithine concentration, Cra...	ORPHA:2203
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Elevated circulating creatine kinase concentration, Hydrocephalus, Flexion contracture,...	OMIM:615249
Pgm3-Cdg	Hemolytic anemia, Failure to thrive, Membranoproliferative glomerulonephritis, Abnormal proportio...	ORPHA:443811
Mucopolysaccharidosis, Type Iva	Waddling gait, Hepatomegaly, Inguinal hernia, Joint laxity, Abnormal heart valve morphology, Gray...	OMIM:253000
Joubert Syndrome	Encephalocele, Ataxia, Highly arched eyebrow, Situs inversus totalis, Tremor, Hydrocephalus, Gait...	ORPHA:475
Kimura Disease	Lymphadenopathy, Eosinophilia, Follicular hyperplasia	ORPHA:482
Monosomy 18Q	Epicanthus, Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, C...	ORPHA:1600
Insensitivity To Pain, Congenital, With Anhidrosis	Sparse scalp hair, Hyperactivity, Osteomyelitis, Keratitis, Corneal scarring, Corneal ulceration,...	OMIM:256800
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Inguinal hernia, Ventricular septal defect, Dextrocardia, Congenital diaphragm...	OMIM:614294
Dent Disease	Elevated circulating creatine kinase concentration, Delayed epiphyseal ossification, Nephrocalcin...	ORPHA:1652
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Alopecia, Nail dystrophy, Cholelithiasis, Alopecia universalis	OMIM:240300
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Dystonia, Corneal opacity, Elevated circulating creatine kinase concentration, ...	OMIM:175780
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven...	OMIM:601005
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Inability to wal...	ORPHA:324410
Adrenoleukodystrophy	Alopecia	OMIM:300100
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Elevated circulating creatine kinase concent...	OMIM:300257
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Anemia,...	OMIM:618838
Chops Syndrome	Curly hair, Cataract, Ventricular septal defect, Thick hair, Tracheomalacia, Splenomegaly, Synoph...	OMIM:616368
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Peritonitis, Vasculitis, Limitation of joint m...	ORPHA:343
Premature Aging Syndrome, Penttinen Type	Failure to thrive, Lipoatrophy, Corneal opacity, Recurrent fractures, Osteoporosis, Corneal strom...	OMIM:601812
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Leukopenia, Tubulointerstitial nephritis, Corneal pe...	ORPHA:289390
Primary Ciliary Dyskinesia	Abnormal atrial arrangement, Atrial situs ambiguous, Asplenia, Situs inversus totalis, Hydrocepha...	ORPHA:244
Kawasaki Disease	Pericarditis, Abnormality of nail color, Abnormal heart valve morphology, Proteinuria, Myocarditi...	ORPHA:2331
American Trypanosomiasis	Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, Lymphadenopathy, Cardiomyopath...	ORPHA:3386
Developmental And Epileptic Encephalopathy 95	Joint laxity, Hepatomegaly, Inguinal hernia, Multiple joint contractures, Ataxia, Highly arched e...	OMIM:618143
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu...	ORPHA:100075
Naxos Disease	Prolonged QRS complex, Cardiomegaly, Sudden cardiac death, Sparse eyebrow, Dilated cardiomyopathy...	OMIM:601214
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelid morphology, Fine hair, Lym...	ORPHA:2221
Trisomy 1Q	Omphalocele, Multicystic kidney dysplasia, Ventricular septal defect, Camptodactyly of finger, Co...	ORPHA:261344
Igg4-Related Ophthalmic Disease	Palpebral edema, Abnormality of the kidney, Cholangitis, Eosinophilia, Elevated circulating C-rea...	ORPHA:449563
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Epicanthus, Aqueductal stenosis, Almond-shaped palpebral fissure, Synophrys, Hydro...	OMIM:619512
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hypomethioninemia, Ataxia, Hydrocephalus, Optic atrophy, Hyperhomocystinemia, Cystathioninemia, G...	ORPHA:395
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Ventricular septal defect, Hydrocephalus, Knee flexion contracture, Mitral regurgitation, Long pa...	OMIM:603387
Meckel Syndrome, Type 3	Hepatomegaly, Multicystic kidney dysplasia, Occipital encephalocele, Malformation of the hepatic ...	OMIM:607361
Staphylococcal Necrotizing Pneumonia	Shock, Neutrophilia, Confusion, Elevated circulating C-reactive protein concentration, Leukocytos...	ORPHA:36238
Digeorge Syndrome	Sclerocornea, Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemia, Hepatic steatos...	OMIM:188400
X-Linked Agammaglobulinemia	Alopecia	ORPHA:47
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Decreased CSF copper concentration, Cardiomegaly, Glandular hypospadias,...	OMIM:620306
Alexander Disease	Osteopenia, Ataxia, Sudden cardiac death, Tremor, Aqueductal stenosis, Hydrocephalus, Depression,...	ORPHA:58
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Highly arched eyebrow, Hydrocephalus, Abnormal renal morphology, Abnormal heart morphology, Upsla...	OMIM:239300
Desmosterolosis	Ventriculomegaly, Failure to thrive, Epicanthus, Generalized osteosclerosis, Hydrocephalus, Abnor...	OMIM:602398
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Lens luxation, Ectopia lentis, Hydrocephalus, Limitation of joint mobility, Advanc...	OMIM:224400
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Telecanthus, Hydrocephalus, Absent extraocular muscles, Ventriculomegaly, Abnorma...	OMIM:109120
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Trisomy 8P	Multiple joint contractures, Abnormal atrioventricular connection, Hydrocephalus, Fetal pyelectas...	ORPHA:264450
3Mc Syndrome 3	Corneal opacity, Highly arched eyebrow, Epicanthus inversus, Horseshoe kidney, Radioulnar synosto...	OMIM:248340
Mandibuloacral Dysplasia	Sparse hair, Alopecia, Hypoplastic fingernail	ORPHA:2457
Short-Rib Thoracic Dysplasia 12	Omphalocele, Hepatomegaly, Inguinal hernia, Epicanthus, Ventricular septal defect, Splenomegaly, ...	OMIM:269860
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ...	ORPHA:758
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Myelofibrosis, Large for gestational age, Sparse hair, Atrial septal defect, Joint laxity, Hypera...	OMIM:607721
Bohring-Opitz Syndrome	Ventriculomegaly, Retinal atrophy, Cardiomegaly, Inability to walk, Synophrys, Limitation of join...	ORPHA:97297
Central Neurocytoma	Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus, Depression, Lethargy	ORPHA:73256
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom...	OMIM:120200
Biemond Syndrome Type 2	Hydrocephalus, Hypospadias, Obesity	ORPHA:141333
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Mosaic Trisomy 1	Omphalocele, Hepatic agenesis, Ventricular septal defect, Camptodactyly of finger, Congenital dia...	ORPHA:1692
Glycine Encephalopathy With Normal Serum Glycine	Joint laxity, Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion c...	OMIM:617301
Pontocerebellar Hypoplasia, Type 7	Ventriculomegaly, Epicanthus, Ataxia, Synophrys, Hydrocephalus, Optic atrophy, Opisthotonus, Chor...	OMIM:614969
Linear Skin Defects With Multiple Congenital Anomalies 1	Atrial septal defect, Overriding aorta, Ventricular septal defect, Hypospadias, Congenital diaphr...	OMIM:309801
Cushing Syndrome Due To Ectopic Acth Secretion	Myocardial infarction, Anorexia, Neoplasm of the thymus, Pancreatoblastoma, Increased body weight...	ORPHA:99889
Werner Syndrome	Hypertriglyceridemia, Cataract, Elevated hemoglobin A1c, Elevated circulating aspartate aminotran...	OMIM:277700
Herpes Simplex Virus Encephalitis	Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ...	ORPHA:1930
Wiedemann-Rautenstrauch Syndrome	Secundum atrial septal defect, Flexion contracture, Hypoplasia of the thymus, Dandy-Walker malfor...	OMIM:264090
Gorlin-Chaudhry-Moss Syndrome	Sclerocornea, Abnormal eyelid morphology, Low anterior hairline, Upper eyelid coloboma, Coarse ha...	ORPHA:2095
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Aortic regurgitation, Hydrocephalus, Joint hyperflexibility, Gait disturbance, Umbilical hernia	ORPHA:2181
Classic Homocystinuria	Gastrointestinal hemorrhage, Hepatomegaly, Sparse scalp hair, Retinal detachment, Abnormality of ...	ORPHA:394
3Q29 Microduplication Syndrome	Cataract, Ventricular septal defect, Sclerocornea, Craniosynostosis, Obesity, Aniridia, Camptodac...	ORPHA:251038
Tetrasomy 15Q26	Hydrocephalus, Horseshoe kidney, Camptodactyly, Atrial septal defect, Downslanted palpebral fissu...	OMIM:614846
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Hepatomegaly, Cervical lymphadenopathy, Oligoarthritis, Hepatic amyl...	OMIM:142680
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia	ORPHA:412057
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Cataract, Limb joint contracture, Tremor, Atrial septal defect, Pat...	OMIM:620327
Mend Syndrome	Hyperactivity, Cataract, Telecanthus, Aggressive behavior, Elevated 8-dehydrocholesterol, Elevate...	ORPHA:401973
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Aggressive behavior, Synophrys, Irritability, Lymphopenia, Abnormal repetitive man...	ORPHA:391307
Mandibuloacral Dysplasia With Type B Lipodystrophy	Abnormal hair morphology, Alopecia, Nail dystrophy	ORPHA:90154
Mandibuloacral Dysplasia With Type B Lipodystrophy	Sparse hair, Alopecia, Brittle hair	OMIM:608612
Bronchial Neuroendocrine Tumor	Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Chronic noninfec...	ORPHA:97287
Rift Valley Fever	Abnormal bleeding, Elevated hepatic transaminase, Anorexia, Hematemesis, Thrombocytopenia, CSF pl...	ORPHA:319251
Dyskeratosis Congenita, Digenic	Nail dystrophy, Alopecia, Sparse eyelashes, Decreased testicular size	OMIM:620040
Noonan Syndrome 14	Aortic regurgitation, Curly hair, Epicanthus, Lacrimal duct stenosis, Sparse eyebrow, Mitral valv...	OMIM:619745
Pseudohypoparathyroidism Type 1A	Reduced bone mineral density, Choreoathetosis, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany,...	ORPHA:79443
Limb Body Wall Complex	Ventral hernia, Encephalocele, Ventricular septal defect, Abnormality of the kidney, Congenital d...	ORPHA:2369
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu...	ORPHA:100080
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Bicuspid aortic valve, Vesicoureteral reflux, Atrial septal defect, Patent foramen ov...	ORPHA:438213
Thymic Neuroendocrine Tumor	Osteopenia, Calcium nephrolithiasis, Chronic noninfectious lymphadenopathy, Hypercalcemia, Pancre...	ORPHA:97289
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Ataxia, Gait disturbance, Corneal opacity	ORPHA:578
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Eosinophilia, Anorexia, Hepatitis, Hepatosplenomegaly, Failure to thrive secondary to recurrent i...	ORPHA:169160
Fanconi Anemia, Complementation Group R	Radial dysplasia, Hydrocephalus, Bone marrow hypocellularity, Pelvic kidney, Anemia	OMIM:617244
Neurodegeneration With Brain Iron Accumulation 1	Urinary incontinence, Tremor, Choreoathetosis, Retinal degeneration, Eyelid apraxia, Hyperactivit...	OMIM:234200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Retinal detachment, Ventriculomegaly, Cataract, Remnants of the hyaloid vascular s...	OMIM:614643
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Immunodeficiency 10	Autoimmune hemolytic anemia, Lymphadenopathy, Hypoplasia of the iris, Thrombocytopenia, Amelogene...	OMIM:612783
Hennekam Syndrome	Epicanthus, Camptodactyly of finger, Sparse axillary hair, Ectopic kidney, Pericardial effusion, ...	ORPHA:2136
Neural Tube Defects, Susceptibility To	Urinary incontinence, Hydrocephalus, Myelomeningocele, Anencephaly, Multiple lipomas, Lipoma, Spi...	OMIM:182940
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Retinal hamartoma, Hydroceph...	ORPHA:538
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Hypoplasia of eyelid, Optic nerve hypoplasia, Leukocytosis, Flexion contracture, Optic ...	OMIM:619321
Isotretinoin-Like Syndrome	Inguinal hernia, Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Hydrocephalus, Con...	ORPHA:2306
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Inguinal hernia, Hypoplasia of penis, Ventriculomegaly, Abnormal dental enamel morphology, Supern...	ORPHA:1812
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Narrow palpebral fissure, Ocular...	OMIM:615145
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ...	ORPHA:308552
Pseudohypoparathyroidism Type 1B	Prolonged QT interval, Calcinosis, Increased bone mineral density, Cataract, Diaphyseal sclerosis...	ORPHA:94089
Pierson Syndrome	Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Proteinuria, Remnants ...	OMIM:609049
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Short attention span, Torticollis, Joint laxity, Epicanthus, Optic nerve hypoplas...	ORPHA:300570
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney	OMIM:613091
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Multicystic kidney dysplasia, Septo-optic dysplasia, Cataract, Hyd...	ORPHA:3301
Omphalocele-Cleft Palate Syndrome, Lethal	Omphalocele, Hydrocephalus	OMIM:258320
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Hydrocephalus, Bicuspid aortic valve	ORPHA:397951
Acalvaria	Omphalocele, Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Jacobsen Syndrome	Microcornea, Eyelid coloboma, Iris coloboma, Multicystic kidney dysplasia, Spina bifida, Annular ...	ORPHA:2308
Macs Syndrome	Sparse hair, Cryptorchidism, Alopecia, Sparse eyebrow	OMIM:613075
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hyperactivity, Hypouricemia, Ataxia, Autoimmune thrombocytopenia, Ab...	ORPHA:760
Hermansky-Pudlak Syndrome	Abnormal bleeding, Gastrointestinal hemorrhage, Renal insufficiency, Hypopigmentation of hair, Ca...	ORPHA:79430
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Hyperparathyroidism	ORPHA:93160
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Radial club hand, Hydrocephalus, Renal hypoplasia, Abnormal heart morphology	OMIM:276950
Elliptocytosis 3	Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr...	OMIM:617948
Dyggve-Melchior-Clausen Disease	Hyperactivity, Corneal opacity, Inability to walk, Diminished ability to concentrate, Difficulty ...	ORPHA:239
Fusariosis	Brain abscess, Fasciitis, Lung abscess, Osteomyelitis, Abnormality of the kidney, Keratitis, Abno...	ORPHA:228119
Legius Syndrome	Short attention span, Hyperactivity, Cataract, Acute monocytic leukemia, Paroxysmal atrial tachyc...	ORPHA:137605
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu...	ORPHA:100082
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Renal cyst, Bi...	OMIM:611134
Fraser Syndrome 1	Encephalocele, Absent eyebrow, Hypospadias, Corneal opacity, Renal hypoplasia/aplasia, Absent eye...	OMIM:219000
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Optic atrophy	ORPHA:352682
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Cataract, Congestive heart failure, Thromb...	ORPHA:508542
Mandibuloacral Dysplasia With Type A Lipodystrophy	Absent eyelashes, Abnormal eyebrow morphology, Alopecia, Breast aplasia	ORPHA:90153
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus, Cataract, Retinal coloboma, Obesity	OMIM:601794
Neuroocular Syndrome	Hyperextensibility of the finger joints, Brittle hair, Synophrys, Lens coloboma, Microcornea, Pat...	OMIM:619539
Mietens Syndrome	Cataract, Corneal opacity, Sclerocornea, Joint stiffness, Microcornea, Elbow ankylosis	ORPHA:2557
Lethal Congenital Contracture Syndrome 5	Small for gestational age, Elevated circulating creatine kinase concentration, Flexion contractur...	OMIM:615368
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Small for gestational age, Cardiomegaly, Delayed epiphyseal ossification, Hypertension, Pulmonary...	OMIM:613320
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Broad eyebrow, Neutrophilia, Ataxia, Scarring, Recurrent urinary tract infections, ...	ORPHA:99843
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Hydrocephalus, Flexion contracture, Limitation of joint mobility, Abnormal heart m...	ORPHA:1865
Joubert Syndrome With Oculorenal Defect	Encephalocele, Renal insufficiency, Ataxia, Highly arched eyebrow, Hydrocephalus, Nephropathy, Ir...	ORPHA:2318
Johanson-Blizzard Syndrome	Alopecia, Abnormal hair pattern	ORPHA:2315
Acrodysostosis 1 With Or Without Hormone Resistance	Epicanthus, Small for gestational age, Unilateral renal agenesis, Hydrocephalus, Neonatal epiphys...	OMIM:101800
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Weight loss, Hernia, Lymphadenopathy	ORPHA:26790
Gapo Syndrome	Sparse eyebrow, Early balding, Alopecia, Sparse eyelashes	ORPHA:2067
Pseudotrisomy 13 Syndrome	Omphalocele, Encephalocele, Ventricular septal defect, Dextrocardia, Renal agenesis, Complete atr...	OMIM:264480
Pseudoaminopterin Syndrome	Posterolateral diaphragmatic hernia, Sparse scalp hair, Inguinal hernia, Epicanthus, Highly arche...	ORPHA:221120
Peters Plus Syndrome	Ureteral duplication, Bicuspid pulmonary valve, Microcornea, Spina bifida occulta, Iris coloboma,...	ORPHA:709
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Sparse scalp hair, Renal insufficiency, Proteinuria, Sparse eyelashes, Sparse eyebrow, Fine hair,...	OMIM:614748
Chromosome 8Q21.11 Deletion Syndrome	Epicanthus, Cataract, Sclerocornea, Pigmentary retinopathy, Camptodactyly, Micropenis, Downslante...	OMIM:614230
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal eyelid morphology, Conjunctivitis, Sparse hair, Absent eyebrow, Alopecia, Abnormal denta...	ORPHA:2273
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Cryptorchidism, ...	OMIM:268400
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Septo-optic dysplasia, Hooded eyelid, Synophrys, Fetal pyelectasis, ...	OMIM:619841
Trichinellosis	Confusion, Abnormal cerebrospinal fluid morphology, Retinal hemorrhage, Memory impairment, Irrita...	ORPHA:863
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated circulating...	ORPHA:79126
Monosomy 9Q22.3	Hyperactivity, Cataract, Epicanthus, Large for gestational age, Hydrocephalus, Cardiac fibroma, J...	ORPHA:77301
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus	OMIM:615599
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Inguinal hernia, Joint hypermobility, Hydrocephalus, Failure to thrive, Downslanted p...	OMIM:612940
Pseudohypoparathyroidism Type 1C	Prolonged QT interval, Calcinosis, Increased bone mineral density, Cataract, Confusion, Choroid p...	ORPHA:79444
Lethal Congenital Contracture Syndrome 10	Omphalocele, Torticollis, Overriding aorta, Ventricular septal defect, Stiff neck, Cardiomegaly, ...	OMIM:617022
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombo...	ORPHA:1572
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect, Hypospadias, Hydrocephalus, Horseshoe kidney, Ventriculomegaly	OMIM:218350
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, Upslanted palpebral fis...	OMIM:617237
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, Raynaud phenomenon, Lymphadenopathy, T lymphocytopenia, Sclerosis of...	OMIM:607944
Holocarboxylase Synthetase Deficiency	Alopecia	OMIM:253270
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Tricuspid stenosis, Right ventricular failure, Arterial occlusion,...	ORPHA:100078
Carcinoid Syndrome	Elevated hepatic transaminase, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Ri...	ORPHA:100093
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Epicanthus, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meni...	ORPHA:1908
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Abnormal re...	ORPHA:1606
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Cataract, Telangiectasia of the skin, Joint hypermobility, Hydrocephalus, Flexion con...	OMIM:616007
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Fasciitis, Recurrent urinary tract infections, Auto...	ORPHA:331235
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Ventricular septal defect, Hypospadias, Sclerocornea, Hydrocephalus, Holopro...	ORPHA:77298
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Thick eyebrow, Ventriculomegaly, Hyperactivity, Hydrocephalus, Opti...	OMIM:617281
Gapo Syndrome	Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sparse hair, Bre...	OMIM:230740
Dyskeratosis Congenita, X-Linked	Premature graying of hair, Leukopenia, Conjunctivitis, Pterygium, Alopecia, Hypospadias, Ataxia, ...	OMIM:305000
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol...	ORPHA:98973
Roberts-Sc Phocomelia Syndrome	Knee flexion contracture, Eyelid coloboma, Shallow orbits, Sparse hair, Atrial septal defect, Wri...	OMIM:268300
Hyper-Igd Syndrome	Optic disc pallor, Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, L...	OMIM:260920
Medulloblastoma	Elevated hepatic transaminase, Ataxia, Cerebellar hemorrhage, Hydrocephalus, Dysmetria, Progressi...	ORPHA:616
Neurooculorenal Syndrome	Hypoplasia of the bladder, Decreased circulating cortisol level, Iris atrophy, Dextrocardia, Unil...	OMIM:620305
Cerebral Visual Impairment	Optic disc pallor, Short attention span, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, In...	ORPHA:447788
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Optic atrophy, Colpocephaly, Atrial septal defect, Do...	OMIM:615219
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Osteopenia, Recurrent fractures, Hydrocephalus, Reduced bone mineral...	OMIM:112240
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire...	OMIM:233710
Rubinstein-Taybi Syndrome 1	Flexion contracture, Low anterior hairline, Hepatic hemangioma, Atrial septal defect, Frontal hir...	OMIM:180849
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Temple Syndrome	Small for gestational age, Hydrocephalus, Polyphagia, Obesity	ORPHA:254516
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,...	ORPHA:35173
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Abnormal bleeding, Lymphopenia, Hypoproteinemia, Abnormal hair quantity	ORPHA:1116
15Q Overgrowth Syndrome	Telecanthus, Tricuspid regurgitation, Contracture of the proximal interphalangeal joint of the 2n...	ORPHA:314585
Xeroderma Pigmentosum	Conjunctival telangiectasia, Craniofacial hyperostosis, Alopecia, Cataract, Telangiectasia of the...	ORPHA:910
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire...	OMIM:233690
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Epicanthus, Lower limb dysmetria, Ventricular septal defect, Renal hypoplasia/aplasia, Hydrocepha...	ORPHA:363700
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Abnormal bleeding, Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia	OMIM:207731
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Dysphagia	ORPHA:163961
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Joint laxity, Inguinal hernia, Telecanthus, Craniosynostosis, Hydrocephalus, Mitral v...	OMIM:182212
Houge-Janssens Syndrome 1	Hydrocephalus, Gait ataxia, Downslanted palpebral fissures, Ventriculomegaly, Ptosis	OMIM:616355
Sandhoff Disease, Infantile Form	Mitral regurgitation, Mitral valve prolapse, Exaggerated startle response, Hepatosplenomegaly	ORPHA:309155
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Optic disc pallor, Failure to thrive, Cataract, Small for gestational a...	OMIM:619869
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Fine hair, Sparse hair	OMIM:613451
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane...	OMIM:243150
Cushing Disease	Myocardial infarction, Increased body weight, Ecchymosis, Leukocytosis, Osteoporosis, Depression,...	ORPHA:96253
Opitz-Kaveggia Syndrome	Inguinal hernia, Multiple joint contractures, Hypospadias, Epicanthus, Hydrocephalus, Abnormal he...	OMIM:305450
Scalp-Ear-Nipple Syndrome	Anisocoria, Multiple lipomas, Sparse hair, Supraventricular tachycardia, Iris coloboma, Renal hyp...	OMIM:181270
Chromosome 17P13.1 Deletion Syndrome	Joint laxity, Epicanthus, Telecanthus, Highly arched eyebrow, Spina bifida, Synophrys, Hydrocepha...	OMIM:613776
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Epicanthus, Telecanthus, Hydrocephalus, Optic atrophy, Right bundle branch block, Joi...	OMIM:618590
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Short attention span, Exaggerated startle response, Broad-based gait, Ataxia, Epicanthus, Telecan...	ORPHA:438216
Cousin Syndrome	Blepharophimosis, Hydrocephalus, Humeroradial synostosis, Low anterior hairline, Microcornea, Nar...	OMIM:260660
Galactosialidosis	Conjunctival telangiectasia, Visceromegaly, Opacification of the corneal stroma, Hepatosplenomegaly	OMIM:256540
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Craniosynostosis, Limited elbow movement, Decreased proportion of CD8-positive T ce...	ORPHA:508533
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Bartsocas-Papas Syndrome 1	Ectopic kidney, Cicatricial lagophthalmos, Flexion contracture, Ankyloblepharon, Pterygium, Micro...	OMIM:263650
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus, Optic atrophy, Ptosis	ORPHA:93262
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Keratoconj...	OMIM:269200
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom...	ORPHA:439
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Generalized osteoporosis, Autoimmune thrombocytopenia, C...	ORPHA:391487
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Rickets, Abnormal blood ion concentration, Abnormal tubulointerstitial morphol...	ORPHA:411629
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response, Ataxia, Optic atrophy, Irritability, Joint contracture, Failure to ...	OMIM:616881
Atopic Keratoconjunctivitis	Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s...	ORPHA:163934
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Weight loss	ORPHA:33276
Crouzon Syndrome	Sagittal craniosynostosis, Keratitis, Hydrocephalus, Optic atrophy, Conjunctivitis, Lambdoidal cr...	OMIM:123500
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Parakeratosis, Hyperkeratosis, Small nail, Orthokeratosis, Thyroid hypoplasia	OMIM:308050
Argininemia	Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Hyperammonemia, Cholestasis, Irrit...	OMIM:207800
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma, Attention deficit hyperactivity disorder	ORPHA:461
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Akinesia, Hydrocephalus, Pterygium, Hydranencephaly, Joint contracture, Dandy-W...	OMIM:225790
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Renal neoplasm, Torticollis, Multiple joint contractures, Recurrent fractures, Cranio...	ORPHA:536467
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Fine hair, Microcornea, Keratoconjunctivitis sicca, Sp...	ORPHA:1806
Cole-Carpenter Syndrome 2	Osteopenia, Recurrent fractures, Hydrocephalus, Lambdoidal craniosynostosis, Coronal craniosynost...	OMIM:616294
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus, Craniosynostosis	OMIM:612247
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Urinary glycosaminoglycan excre...	ORPHA:79255
Cryptococcosis	Lymphoid leukemia, Osteomyelitis, Mediastinal lymphadenopathy, Hydrocephalus, Peritonitis, Osteol...	ORPHA:1546
Icf Syndrome	Communicating hydrocephalus, Epicanthus, Abnormality of neutrophils, Umbilical hernia, Lymphopeni...	ORPHA:2268
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Osteopenia, Inguinal hernia, Joint laxity, Corneal opacity, Unilateral rena...	ORPHA:90348
Muenke Syndrome	Hypopigmentation of hair, Tarsal synostosis, Hydrocephalus, Carpal synostosis, Coronal craniosyno...	ORPHA:53271
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Craniosynostosis, Abnormality of the pancreas, Hydrocephalus, Optic atrophy, Hypertension, Umbili...	ORPHA:1555
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ...	OMIM:616005
Japanese Encephalitis	Hyponatremia, Neutrophilia, Stiff neck, Anorexia, Tremor, CSF pleocytosis, Elbow flexion contract...	ORPHA:79139
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Joint laxity, Macrocytic anemia, Fair...	OMIM:250250
Fryns Syndrome	Omphalocele, Ureteral duplication, Ectopic pancreatic tissue, Ventricular septal defect, Hypospad...	OMIM:229850
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Central Retinal Vein Occlusion	Papilledema, Abnormal anterior eye segment morphology, Intraretinal hemorrhage, Macular degenerat...	ORPHA:411527
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, Macular atrophy, Ectopia p...	ORPHA:85167
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Pituitary adenoma, Primary hyperparathyroidism, Macronodular adrenal hyperplasia, Hirsu...	ORPHA:189427
Pallister-Hall-Like Syndrome	Renal dysplasia, Occipital encephalocele, Micropenis, Hydrocephalus	OMIM:241800
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Progressive neurologic deterioration, Delayed epiphyseal ossification, Flexion contracture, Renal...	OMIM:210710
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,...	ORPHA:83471
Ebola Hemorrhagic Fever	Abnormal bleeding, Gastrointestinal hemorrhage, Acute pancreatitis, Hepatitis, Melena, Leukopenia...	ORPHA:319218
Aase-Smith Syndrome I	Ventricular septal defect, Hydrocephalus, Flexion contracture, Dandy-Walker malformation, Ptosis	OMIM:147800
Anterior Segment Dysgenesis 5	Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri...	OMIM:604229
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Short attention span, Exaggerated startle response, Optic nerve hypoplasia, Inability to walk, Ir...	OMIM:617864
Ablepharon Macrostomia Syndrome	Omphalocele, Absent eyebrow, Hypoplasia of penis, Ablepharon, Corneal opacity, Camptodactyly of f...	ORPHA:920
Distal Deletion 19P	Alopecia, Thick eyebrow	ORPHA:96129
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Kindler Epidermolysis Bullosa	Urethral stricture, Corneal opacity, Camptodactyly of finger, Abnormal dental enamel morphology, ...	ORPHA:2908
Tetrasomy 9P	Biliary atresia, Inappropriate behavior, Micropenis, Patent foramen ovale, Dandy-Walker malformat...	ORPHA:3310
Microphthalmia, Syndromic 2	Flexion contracture, Microcornea, Laterally curved eyebrow, Atrial septal defect, Contracture of ...	OMIM:300166
Psoriasis 14, Pustular	Neutrophilia, Cholangitis, Elevated circulating C-reactive protein concentration, Leukocytosis, O...	OMIM:614204
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Osteopenia, Inguinal hernia, Telecanthus, Camptodactyly of finger, C...	ORPHA:2462
Orofaciodigital Syndrome I	Dry hair, Alopecia, Proteinuria, Epicanthus, Telecanthus, Pancreatic cysts, Myelomeningocele, Hyd...	OMIM:311200
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Epicanthus, Hydrocephalus, Choroid plexus cyst, Decreased calvarial ossification, Polycystic kidn...	OMIM:617866
Limb-Mammary Syndrome	Alopecia, Absent nipple, Sparse eyebrow, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic...	ORPHA:69085
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Cataract, Elevated circulating creatine kinase concentration, Peters anomaly, Hydr...	OMIM:613150
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia	OMIM:210210
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Sparse hair, Patchy alopecia	OMIM:617763
Marshall-Smith Syndrome	Brittle hair, Large sternal ossification centers, Synophrys, Shallow orbits, Sparse hair, Atrial ...	OMIM:602535
Wolf-Hirschhorn Syndrome	Accessory spleen, Vertebral fusion, Rieger anomaly, Epicanthus, Ventricular septal defect, Hyposp...	OMIM:194190
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Telangiectasia of the skin, Hydrocephalus, Optic atrophy, Joint hyperflexibility, Cerebral ischem...	ORPHA:60040
Granulomatosis With Polyangiitis	Diffuse alveolar hemorrhage, Keratitis, Retinal hemorrhage, Localized pulmonary hemorrhage, Weigh...	OMIM:608710
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchidism, Sparse h...	ORPHA:2108
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Band keratopathy, Hydrocephalus, Hypoplasia of the iris, Anterior synechiae of...	OMIM:614195
Mend Syndrome	Hyperactivity, Crossed fused renal ectopia, Cataract, Hydrocephalus, Upslanted palpebral fissure,...	OMIM:300960
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Cataract, Camptodactyly of finger, Keratitis, Sple...	ORPHA:90340
Stiff-Person Syndrome	Tachycardia, Exaggerated startle response, Opisthotonus, Depression, Hypertension, Anemia	OMIM:184850
Alstrom Syndrome	Alopecia, Multinodular goiter, Decreased response to growth hormone stimulation test	OMIM:203800
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Rothmund-Thomson Syndrome	Plantar hyperkeratosis, Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Small nail, Nail dysp...	ORPHA:2909
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Small for gestational age, Cardiomegaly, Pericardial effus...	ORPHA:555874
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Epicanthus, Absent nipple, Hydrocephalus, Mitral valve prolapse, Umbilical hernia, Ureteral tripl...	OMIM:104350
Ectodermal Dysplasia-Skin Fragility Syndrome	Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis, Sparse hair, Alopecia univer...	ORPHA:158668
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Testicular adrenal rest tumor, Hirsutism, Polycystic ovaries	ORPHA:90795
Fanconi Anemia, Complementation Group B	Ventriculomegaly, Ventricular septal defect, Aplastic anemia, Renal agenesis, Hydrocephalus, Micr...	OMIM:300514
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Anorexia, Jaundice, Extrahepatic choles...	ORPHA:1333
Cryptogenic Organizing Pneumonia	Neutrophilia, Elevated circulating C-reactive protein concentration, Anorexia, Leukocytosis, Weig...	ORPHA:1302
Chiari Malformation Type Ii	Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Cervical myelopathy, Dysphagia	OMIM:207950
Moebius Syndrome	Epicanthus, Corneal opacity, Breast aplasia, Dysphagia, Arthrogryposis multiplex congenita, Bleph...	ORPHA:570
Optic Pathway Glioma	Papilledema, Hydrocephalus, Optic atrophy	ORPHA:2086
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Alopecia totalis	OMIM:618775
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Alopecia totalis, Decreased response to growth hormone stimulation test, Abnormal size ...	ORPHA:293978
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Ectopic kidney, Synophrys, Atrial septal defect, Patent foramen ovale, Sel...	OMIM:607872
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Sclerocornea, Dilated cardiomyopathy, Ventricular tachycardia, Lacrimal duct atre...	OMIM:300952
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Limbal stem cell deficiency...	ORPHA:2334
Plasminogen Deficiency, Type I	Ventriculomegaly, Hydrocephalus, Decreased level of plasminogen, Nephrolithiasis, Conjunctivitis,...	OMIM:217090
Apert Syndrome	Overriding aorta, Ventricular septal defect, Sagittal craniosynostosis, Craniosynostosis, Limited...	OMIM:101200
Hec Syndrome	Communicating hydrocephalus, Abnormal pupil morphology, Developmental cataract, Cardiomyopathy, E...	ORPHA:2119
Lipodystrophy, Familial Partial, Type 7	Lack of facial subcutaneous fat, Dysmetria, Gait ataxia, Sparse hair, Decreased adipose tissue ar...	OMIM:606721
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Hydrocephalus, Renal hypoplasia, Upslanted palpebral fissure, Bone mar...	OMIM:614083
Peho Syndrome	Epicanthus, Palpebral edema, Hydrocephalus, Flexion contracture, Optic atrophy, Limitation of joi...	ORPHA:2836
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire...	OMIM:306400
Tetrasomy 5P	Pericallosal lipoma, Epicanthus, Congestive heart failure, Hydrocephalus, Heart murmur, Upslanted...	ORPHA:3309
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Nephropathy, Proteinuria, Corneal opacity	ORPHA:1765
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Mosaic Trisomy 8	Corneal opacity, Camptodactyly of finger, Limitation of joint mobility, Vesicoureteral reflux, Ar...	ORPHA:96061
Yunis-Varon Syndrome	Sclerocornea, Cardiomegaly, Atrial septal defect, Micropenis, Decreased skull ossification, Absen...	ORPHA:3472
Distal 22Q11.2 Microduplication Syndrome	Epicanthus, Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, Unilater...	ORPHA:261337
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Ventriculomegaly With Defects Of The Radius And Kidney	Ureteral duplication, Renal agenesis, Ectopic kidney, Hydrocephalus, Horseshoe kidney, Lateral ve...	OMIM:602200
Oculoauricular Syndrome	Retinal detachment, Posterior embryotoxon, Cataract, Sclerocornea, Nasolacrimal duct obstruction,...	OMIM:612109
Biotinidase Deficiency	Alopecia	OMIM:253260
Meckel Syndrome, Type 6	Occipital encephalocele, Absent gallbladder, Hydrocephalus, Anencephaly, Renal cyst, Horseshoe ki...	OMIM:612284
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Yellow Fever	Anuria, Elevated circulating creatine kinase concentration, Internal hemorrhage, Abnormal bleedin...	ORPHA:99829
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy	OMIM:614008
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,...	OMIM:102700
47,Xyy Syndrome	Hyperactivity, Hypospadias, Impulsivity, Hydrocephalus, Attention deficit hyperactivity disorder,...	ORPHA:8
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Joint stiffness, Flexion contracture, Knee osteoarthritis, Oligoarthritis, Synovitis, Enthesitis,...	ORPHA:85408
Raine Syndrome	Increased bone mineral density, Hydroureter, Highly arched eyebrow, Hydrocephalus, Subperiosteal ...	OMIM:259775
Proximal Renal Tubular Acidosis	Bicarbonaturia, Reduced bone mineral density, Nephrocalcinosis, Aminoaciduria, Low-molecular-weig...	ORPHA:47159
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Increased serum beta-hexosaminidase, Craniosynostosis, Hyperopic astigmatis...	OMIM:252600
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus, Gait disturbance, Urinary incontinence, Dementia	OMIM:236690
Vitamin D-Dependent Rickets, Type 2A	Secondary hyperparathyroidism, Alopecia universalis	OMIM:277440
Larsen Syndrome	Joint laxity, Vertebral fusion, Ventricular septal defect, Short nail, Corneal opacity, Tracheoma...	OMIM:150250
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated hepatic transaminase, Brittle hair, Ataxia, Cholangitis, Cataract, Mic...	OMIM:124000
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Portal hypertension, Thrombocytopenia, Premature graying of hair, Nail dystrophy, Lym...	OMIM:620365
Oculoectodermal Syndrome	Hyperactivity, Epicanthus, Transient ischemic attack, Supernumerary nipple, Limbal dermoid, Micro...	OMIM:600268
Myopathy, Centronuclear, X-Linked	Elevated hepatic transaminase, Hydrocephalus, Flexion contracture, Dandy-Walker malformation	OMIM:310400
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Cataract, Synophrys, Flexion contracture, Hydrocephalus, Bone cyst, Osteolysis, ...	ORPHA:3042
Familial Mediterranean Fever	Acute hepatic failure, Pericarditis, Proteinuria, Myocardial infarction, Splenomegaly, Peritoniti...	ORPHA:342
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk...	ORPHA:3243
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Abnormality of the nail	ORPHA:428
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Synophrys, Narrow palpebral fissure, Congenital contracture, Colpocephaly, Ventric...	OMIM:620156
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus, Developmental cataract, Endocardial fibroelastosis	OMIM:600559
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Hydrocephalus, Umbilical hernia, Hypertrophic cardiomyopathy, Failure ...	OMIM:612938
Cutaneous Mastocytoma	Telangiectasia of the skin, Lymphadenopathy, Hypotension, Telangiectasia macularis eruptiva perstans	ORPHA:79455
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Inability to walk, Flexion contracture, Optic at...	OMIM:609541
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Optic neuropathy, Anorexia, Pericardial ...	OMIM:181000
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma	ORPHA:1643
Reynolds Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Calcinosis, Elevated hepatic transaminase, Raynaud phe...	OMIM:613471
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Optic atrophy, Hirsutism, Contractures of the large joints, Cogniti...	OMIM:617527
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Painless fractures due to injury, Self-mutilation, Orthostatic hypotension due to auto...	ORPHA:642
Generalized Arterial Calcification Of Infancy	Cardiomegaly, Nephrocalcinosis, Abnormal calcification of the carpal bones, Hypophosphatemic rick...	ORPHA:51608
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Alopecia universalis	ORPHA:363618
Juvenile Nephropathic Cystinosis	Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem...	ORPHA:411634
Spondyloepimetaphyseal Dysplasia, Krakow Type	Elbow contracture, Hydrocephalus, Annular pancreas, Knee flexion contracture, Sclerosis of skull ...	OMIM:618162
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Epicanthus, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agi...	OMIM:618056
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas...	ORPHA:83461
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Failure to thrive, Short palpebral fissure	ORPHA:364577
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Ventricular septal defect, Limited hip extension, Flexion contracture, Retinal hemor...	OMIM:614653
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Cognitive i...	ORPHA:309246
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cataract, Elevated circulating creatine kinase concentration, Hydrocephalus, Buphthalmos, Ventric...	OMIM:616538
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Remnants of the hyaloid vascular system, Corn...	ORPHA:649
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Exaggerated startle response, Ventriculomegaly, Failure to thrive, Opti...	OMIM:615574
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Mental deterioration, Dandy-Walker malformation	OMIM:249400
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival...	ORPHA:98957
Costello Syndrome	Curly hair, Renal insufficiency, Hyperextensibility of the finger joints, Ventricular septal defe...	OMIM:218040
Ciliary Dyskinesia, Primary, 1	Asplenia, Abnormal cornea morphology, Communicating hydrocephalus, Situs inversus totalis	OMIM:244400
Thanatophoric Dysplasia Type 1	Abnormality of the kidney, Joint stiffness, Hydrocephalus, Atrial septal defect, Ventriculomegaly	ORPHA:1860
Amelocerebrohypohidrotic Syndrome	Abnormal dental enamel morphology, Hydrocephalus, Dementia, Mental deterioration, Amelogenesis im...	ORPHA:1946
Systemic Lupus Erythematosus	Hemolytic anemia, Alopecia, Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Lymphadenop...	ORPHA:536
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Plague	Abnormal bleeding, Hepatomegaly, Tachycardia, Mydriasis, Anorexia, Hematemesis, Splenomegaly, Lym...	ORPHA:707
Neutral Lipid Storage Disease With Ichthyosis	Alopecia	ORPHA:98907
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus, Epicanthus, Tetralogy of Fallot, Anomalous pulmonary venous return, ...	ORPHA:2184
Celiac Disease, Susceptibility To, 1	Alopecia	OMIM:212750
Osteopathia Striata With Cranial Sclerosis	Omphalocele, Multicystic kidney dysplasia, Failure to thrive, Ventricular septal defect, Epicanth...	OMIM:300373
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Multicystic kidney dysplasia, Ventriculomeg...	OMIM:615287
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Renal insufficiency, Ataxia, Hydrocephalus, Opti...	OMIM:608091
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Epicanthus, Cataract, Hypospadias, Sclerocornea, Microcornea, Ectopia pupillae, Long eyelashes, C...	OMIM:615877
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic disc pallor, Exaggerated startle response, Multiple joint contractures, Optic atrophy, Diff...	ORPHA:320406
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T...	OMIM:242700
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Ventriculomegaly	OMIM:304100
Beare-Stevenson Cutis Gyrata Syndrome	Hypospadias, Craniosynostosis, Hydrocephalus, Optic atrophy, Hypertension, Downslanted palpebral ...	OMIM:123790
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Compulsive behaviors, Vesicoureteral reflux, Atrial septal defect, Patent ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Compulsive behaviors, Vesicoureteral reflux, Atrial septal defect, Patent ...	ORPHA:353277
Riddle Syndrome	Conjunctival telangiectasia, Generalized lymphadenopathy, Ataxia, Elevated circulating alpha-feto...	ORPHA:420741
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Exaggerated startle response, Ventriculomegaly, Optic at...	ORPHA:521426
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Retinal hamartoma, Myelopathy, Hydrocephalus, Unsteady g...	ORPHA:637
Cerebrooculonasal Syndrome	Encephalocele, Ventriculomegaly, Epicanthus, Sparse eyelashes, Optic nerve hypoplasia, Craniosyno...	OMIM:605627
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Flexion contracture, Vesicoureteral reflux, Micropenis, Elb...	ORPHA:95699
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus, Flexion contracture, Abnormal renal morphology, Humeroradial synostosis, Lambdoida...	OMIM:207410
Giant Cell Arteritis	Alopecia	ORPHA:397
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Congestive heart failure, Ankylosis, Dilated cardiomyopathy,...	OMIM:208000
Acute Radiation Syndrome	Abnormal bleeding, Cataract, Telangiectasia, Granulocytopenia, Hypotension, Lymphopenia, Thromboc...	ORPHA:454831
Peters-Plus Syndrome	Ureteral duplication, Bilobate gallbladder, Limited elbow movement, Atrial septal defect, Decreas...	OMIM:261540
Apert Syndrome	Hydrocephalus, Corneal erosion, Optic atrophy, Cervical C5/C6 vertebrae fusion, Hypertension, Dow...	ORPHA:87
L1 Syndrome	Aqueductal stenosis, Hydrocephalus, Gait disturbance, Depression	ORPHA:275543
Meige Disease	Atypical scarring of skin, Lymph node hypoplasia, Absence of lymph node germinal center, Cellulitis	ORPHA:90186
Kabuki Syndrome 1	Ureteropelvic junction obstruction, Hemolytic anemia, Crossed fused renal ectopia, Ventricular se...	OMIM:147920
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Joint laxity, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Ataxia, C...	OMIM:300967
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f...	ORPHA:1677
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormal heart morphology, Abnorma...	ORPHA:42775
3-Methylglutaconic Aciduria, Type Viii	Dystonia, Cataract, Tremor, Jaundice, Dysphagia, Increased CSF lactate, 3-Methylglutaric aciduria...	OMIM:617248
Linear Nevus Sebaceus Syndrome	Alopecia, Adenoma sebaceum	ORPHA:2612
Leprosy	Absent eyebrow, Alopecia, Testicular mass, Loss of eyelashes, Hyperkeratosis, Sparse body hair	ORPHA:548
Immunodeficiency 32A	Lymphadenitis, Granuloma, Lymphadenopathy	OMIM:614893
Fontaine Progeroid Syndrome	Bicuspid aortic valve, Synophrys, Low anterior hairline, Coarse hair, Atrial septal defect, Micro...	OMIM:612289
Capillary Malformation-Arteriovenous Malformation	Abnormal bleeding, Neurogenic bladder, Epistaxis, High-output congestive heart failure, Congestiv...	ORPHA:137667
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Inguinal hernia, Abnormality of the pancreas, White hair, Fine hair, Reduced bone mineral density...	ORPHA:935
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Encephalocele, Telecanthus, Remnants of the hyaloid vascular s...	OMIM:603671
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Intestinal bleeding, Lymphadenopathy	ORPHA:424019
Functioning Gonadotropic Adenoma	Osteopenia, Enlarged polycystic ovaries, Hydrocephalus, Osteoporosis, Abnormality of secondary se...	ORPHA:91348
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Neurogenic bladder, Block vertebrae, Dextrocardia, Situs inversus totalis, Myel...	OMIM:613686
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus, Abnormal dental enamel morphology, Obesity	ORPHA:2180
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Congenital diaphragmatic hernia, Ectopic kidney, Hydrocephalus, Eyelid...	ORPHA:268249
Papa Syndrome	Arthritis, Limitation of joint mobility, Proteinuria, Lymphadenopathy	ORPHA:69126
Tyrosinemia Type 2	Tremor, Ataxia, Corneal opacity	ORPHA:28378
Woodhouse-Sakati Syndrome	Sparse hair, Alopecia, Decreased testicular size, Fine hair	OMIM:241080
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Mitral val...	OMIM:177850
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Inguinal hernia, Hyperactivity, Optic nerve hypoplasia, Unilateral renal agenesis, Joint hypermob...	ORPHA:457284
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Lymphadenitis, Abnormality of the lym...	ORPHA:2035
Basal Cell Nevus Syndrome 1	Vertebral fusion, Cataract, Spina bifida, Hydrocephalus, Irregular ossification of hand bones, Ca...	OMIM:109400
Mandibuloacral Dysplasia With Type A Lipodystrophy	Sparse scalp hair, Alopecia, Onychogryposis	OMIM:248370
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Ventricular septal defect, Hydrocephalus, Tubular luminal dilatation, Renal ...	OMIM:219730
Thakker-Donnai Syndrome	Communicating hydrocephalus, Ventricular septal defect, Congenital diaphragmatic hernia, Upslante...	ORPHA:1780
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Inguinal hernia, Transient ischemic attack, Bicuspid aortic valve, Subarach...	ORPHA:91387
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Inguinal hernia, Increased bone mineral density, Femoral hernia, Abnor...	ORPHA:2658
Hemangioblastoma	Retinal capillary hemangioma, Neurogenic bladder, Hydrocephalus	ORPHA:252054
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Ataxia, Head titubation, Optic atrophy, Dilatation of the renal pelvis, Dysmetria, Knee flexion c...	OMIM:619708
Rodrigues Blindness	Sparse hair, Microcornea, Sclerocornea, Fine hair	OMIM:268320
Pfeiffer Syndrome	Hydrocephalus, Humeroradial synostosis, Downslanted palpebral fissures, Shallow orbits, Coronal c...	OMIM:101600
Familial Drusen	Abnormality of retinal pigmentation, Macular atrophy, Reticular pigmentary degeneration, Granular...	ORPHA:75376
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Increased bone mineral density, Thrombocytopenia	ORPHA:1237
Apolipoprotein A-I Deficiency	Decreased HDL cholesterol concentration, Angina pectoris, Xanthelasma, Opacification of the corne...	ORPHA:425
Atypical Werner Syndrome	Abnormal hair quantity, Alopecia, Abnormal hair morphology, Abnormal hair whorl, Ovarian neoplasm...	ORPHA:79474
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Weight loss, Lymphadenopathy	ORPHA:411703
Medullary Thyroid Carcinoma	Weight loss, Abnormal liver parenchyma morphology, Dysphagia, Lymphadenopathy	ORPHA:1332
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Joint laxity, Epicanthus, Absent sternal ossification, Hyposp...	OMIM:114290
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss, Lymphadenopathy	ORPHA:99978
Rothmund-Thomson Syndrome Type 1	Plantar hyperkeratosis, Alopecia totalis, Cryptorchidism, Sparse or absent eyelashes, Nail dyspla...	ORPHA:221008
Exstrophy-Epispadias Complex	Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicoureteral reflux, Bladd...	ORPHA:322
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma	ORPHA:231736
Aniridia 1	Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Bilateral ptosis...	OMIM:106210
Coffin-Siris Syndrome 12	Synophrys, Low anterior hairline, Abnormal repetitive mannerisms, Patent foramen ovale, Joint lax...	OMIM:619325
Microphthalmia With Brain And Digit Anomalies	Microcornea, Cataract, Iris coloboma, Sclerocornea	ORPHA:139471
Stuve-Wiedemann Syndrome 1	Elbow flexion contracture, Osteoporosis, Dysphagia, Contracture of the proximal interphalangeal j...	OMIM:601559
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Telecanthus, Ventricular septal defect, Corneal opacity, Synophrys, Ventricular septal hypertroph...	OMIM:608670
Stiff Person Spectrum Disorder	Emotional lability, Exaggerated startle response, Falls, Difficulty walking	ORPHA:3198
Biotinidase Deficiency	Alopecia	ORPHA:79241
Semilobar Holoprosencephaly	Inability to walk, Hydrocephalus, Flexion contracture, Dysphagia, Abnormal heart morphology, Abno...	ORPHA:220386
Alobar Holoprosencephaly	Inability to walk, Hydrocephalus, Flexion contracture, Dysphagia, Abnormal heart morphology, Abno...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Inability to walk, Hydrocephalus, Flexion contracture, Dysphagia, Abnormal heart morphology, Abno...	ORPHA:93926
Lobar Holoprosencephaly	Inability to walk, Hydrocephalus, Flexion contracture, Dysphagia, Abnormal heart morphology, Abno...	ORPHA:93924
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Subungual hyperkeratosis, Absent eyelashes, Cryptorc...	OMIM:308205
Colchicine Poisoning	Alopecia	ORPHA:31824
Microphthalmia, Syndromic 16	Ankyloblepharon, Sclerocornea	OMIM:611038
Igg4-Related Dacryoadenitis And Sialadenitis	Palpebral edema, Retroperitoneal fibrosis, Enlarged lacrimal glands, Weight loss, Lymphadenopathy...	ORPHA:79078
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus, Decreased skull ossification	OMIM:300863
Rhombencephalosynapsis	Septo-optic dysplasia, Ataxia, Hydrocephalus, Abnormal renal morphology, Ventriculomegaly	ORPHA:59315
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:614120
Chikungunya	Abnormal bleeding, Epistaxis, Joint stiffness, Raynaud phenomenon, Cervical lymphadenopathy, Peri...	ORPHA:324625
Macular Degeneration, Age-Related, 1	Geographic atrophy, Macular degeneration, Macular hemorrhage	OMIM:603075
Multiple Endocrine Neoplasia Type 2	Reduced subcutaneous adipose tissue, Joint laxity, Elevated urinary catecholamine level, Hypercal...	ORPHA:653
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Anorexia, Mediastinal lymphadenopathy, Lymphadenopathy,...	ORPHA:139411
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Epicanthus, Intraventricular hemorrhage, Hydrocephalus, Narrow palpebral fissure, Downslanted pal...	OMIM:613603
Acrofacial Dysostosis 1, Nager Type	Ventricular septal defect, Sparse lower eyelashes, Unilateral renal agenesis, Congenital diaphrag...	OMIM:154400
Rothmund-Thomson Syndrome Type 2	Plantar hyperkeratosis, Alopecia totalis, Cryptorchidism, Sparse or absent eyelashes, Nail dyspla...	ORPHA:221016
Sotos Syndrome	Ureteral duplication, Tremor, Flexion contracture, Vesicoureteral reflux, Atrial septal defect, J...	ORPHA:821
Van Den Ende-Gupta Syndrome	Abnormal eyebrow morphology, Craniosynostosis, Sclerocornea, Blepharophimosis, Elbow flexion cont...	OMIM:600920
Charge Syndrome	Secundum atrial septal defect, Hypocalcemia, Holoprosencephaly, Atrial septal defect, Micropenis,...	OMIM:214800
Retinoblastoma	Retinal calcification, Vitreous hemorrhage, Leukemia, Leukocoria	OMIM:180200
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Brain abscess, Urinary incontinence, Congestive heart failure, Hydrocephalus, Pulmonary arterial ...	OMIM:616482
Hyperekplexia 2	Exaggerated startle response, Astigmatism, Hiatus hernia	OMIM:614619
Hereditary Acrokeratotic Poikiloderma	Ectropion, Telangiectasia of the skin, Camptodactyly of finger, Abnormal preputium morphology, Ab...	ORPHA:2907
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Joint stiffness	ORPHA:2182
Ophthalmomandibulomelic Dysplasia	Decreased mobility 3rd-5th fingers, Megalocornea, Opacification of the corneal stroma	OMIM:164900
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Urinary incontinence, Atrial septal defect, Pelvic kidney, Abnormal repetitiv...	OMIM:619522
Anaplastic Thyroid Carcinoma	Weight loss, Dysphagia, Lymphadenopathy	ORPHA:142
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	OMIM:600802
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Prolonged bleeding time, Autoimmune h...	OMIM:301000
Orofaciodigital Syndrome Type 1	Alopecia, Brittle hair, Pancreatic cysts, Coarse hair, Sparse hair	ORPHA:2750
Baller-Gerold Syndrome	Epicanthus, Optic nerve hypoplasia, Sagittal craniosynostosis, Craniosynostosis, Abnormality of t...	OMIM:218600
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Retinal coloboma, Polycystic kidney ...	OMIM:616546
Familial Aortic Dissection	Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Ventriculomegaly, Retinal atrophy, Cataract, Elevated circulating creatine kinase concentration, ...	OMIM:253280
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response, Depression	OMIM:620114
Juvenile Dermatomyositis	Alopecia	ORPHA:93672
Achondroplasia	Hip joint hypermobility, Hydrocephalus, Obesity, Knee joint hypermobility, Limited elbow extension	ORPHA:15
Classical-Like Ehlers-Danlos Syndrome Type 2	Cryptorchidism, Alopecia	ORPHA:536532
Meningioma	Papilledema, Decreased circulating cortisol level, Ataxia, Urinary incontinence, Cerebral hemorrh...	ORPHA:2495
Developmental And Epileptic Encephalopathy 68	Failure to thrive, Exaggerated startle response, Flexion contracture	OMIM:618201
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse hair, Patchy alopecia, Sparse eyelashes, Sparse eyebrow	OMIM:302960
Systemic Sclerosis	Alopecia, Nail bed telangiectasia	ORPHA:90291
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Unsteady gait	OMIM:617542
Microphthalmia, Syndromic 3	Optic nerve aplasia, Vertebral fusion, Cataract, Ventricular septal defect, Optic nerve hypoplasi...	OMIM:206900
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Peripheral retinal degeneration, Retinal hemorrhage	OMIM:264420
Vacterl With Hydrocephalus	Inguinal hernia, Femoral hernia, Renal agenesis, Spina bifida, Renal hypoplasia/aplasia, Aqueduct...	ORPHA:3412
Alström Syndrome	Urinary incontinence, Functional abnormality of the bladder, Hepatic fibrosis, Micropenis, Hepati...	ORPHA:64
Focal Dermal Hypoplasia	Ureteral duplication, Brittle hair, Congenital diaphragmatic hernia, Sparse hair, Spina bifida oc...	OMIM:305600
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular failure, Mediastinal lymphad...	ORPHA:199241
Whim Syndrome	Lymphadenitis, Neutropenia, Tetralogy of Fallot, Abnormal neutrophil morphology, Limb ataxia, Cel...	ORPHA:51636
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Joint laxity, Ventriculomegaly, Large for gestational age, Sparse ey...	ORPHA:457359
Holoprosencephaly-Postaxial Polydactyly Syndrome	Omphalocele, Encephalocele, Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Hydroceph...	ORPHA:2166
Autoimmune Polyendocrinopathy Type 3	Anterior pituitary dysgenesis, Alopecia, Autoimmune hypoparathyroidism	ORPHA:227982
Sympathetic Ophthalmia	Alopecia, Poliosis	ORPHA:79098
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Tetraamelia Syndrome 1	Cataract, Renal agenesis, Congenital diaphragmatic hernia, Asplenia, Hydrocephalus, Urethral atresia	OMIM:273395
Autoimmune Polyendocrinopathy Type 4	Alopecia, Anterior pituitary dysgenesis	ORPHA:227990
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia	OMIM:617827
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Abnormality of the kidney, Eosinophilia, Cholangitis, Retroperitoneal fibros...	ORPHA:449432
Autosomal Recessive Robinow Syndrome	Cryptorchidism, Alopecia, Long eyelashes, Fingernail dysplasia	ORPHA:1507
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Urachal cy...	OMIM:608203
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Jaundice, Weight loss, Abnormal lymph node morphology,...	ORPHA:677
Autosomal Dominant Robinow Syndrome	Alopecia, Curly eyelashes, Cryptorchidism, Long eyelashes, Fingernail dysplasia, Ridged fingernai...	ORPHA:3107
Microphthalmia With Limb Anomalies	Abnormal eyebrow morphology, Tarsal synostosis, Hydrocephalus, Optic atrophy, Horseshoe kidney, J...	ORPHA:1106
Neuroendocrine Neoplasm Of Appendix	Elevated hepatic transaminase, Hepatomegaly, Tricuspid stenosis, Chronic noninfectious lymphadeno...	ORPHA:100079
Pelvis-Shoulder Dysplasia	Optic disc coloboma, Spina bifida occulta, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Radial Aplasia, X-Linked	Hydrocephalus, Penile hypospadias	OMIM:312190
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Partial development of the penile shaft, Bradycardia	OMIM:608800
Thoracoabdominal Syndrome	Omphalocele, Ventral hernia, Hypospadias, Renal agenesis, Congenital diaphragmatic hernia, Hydroc...	OMIM:313850
Hyperekplexia 3	Exaggerated startle response, Syncope, Hiatus hernia	OMIM:614618
Malt Lymphoma	Abnormal nasolacrimal system morphology, Mediastinal lymphadenopathy, Weight loss, Lymphadenopath...	ORPHA:52417
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Cardiomegaly, Congestive heart fa...	ORPHA:980
Thyroid Lymphoma	Dysphagia, Lymphadenopathy	ORPHA:97285
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Papilledema, Hydrocephalus	OMIM:260500
Holoprosencephaly 7	Omphalocele, Alobar holoprosencephaly, Synophrys, Hydrocephalus, Lobar holoprosencephaly, Upslant...	OMIM:610828
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Arachnoiditis	Hydrocephalus, Urinary bladder sphincter dysfunction	ORPHA:137817
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Craniopharyngioma	Papilledema, Myocardial infarction, Hydrocephalus, Optic atrophy, Obesity, Increased susceptibili...	ORPHA:54595
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Joint hypermob...	ORPHA:2714
Retinal Arteries, Tortuosity Of	Retinal hemorrhage	OMIM:180000
Behcet Syndrome	Patchy alopecia	OMIM:109650
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Woodhouse-Sakati Syndrome	Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Decreased testicul...	ORPHA:3464
Yunis-Varon Syndrome	Sclerocornea, Micropenis, Decreased skull ossification, Patent foramen ovale, Absent sternal ossi...	OMIM:216340
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Ataxia, Confusion, Cachexia, Hydrocephalus, Optic atrophy	ORPHA:220295
Hydrolethalus	Hydrocephalus, Anencephaly	ORPHA:2189
Tay-Sachs Disease	Psychomotor deterioration, Exaggerated startle response, Dementia	OMIM:272800
Adams-Oliver Syndrome 1	Alopecia, Small nail, Supernumerary nipple	OMIM:100300
Thanatophoric Dysplasia, Type I	Hydrocephalus	OMIM:187600
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	ORPHA:35078
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis...	ORPHA:100086
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:3384
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Holoprosencephaly 14	Ventriculomegaly, Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydro...	OMIM:619895
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response, Ataxia	OMIM:618598
Cole-Carpenter Syndrome	Communicating hydrocephalus, Recurrent fractures, Abnormal dental enamel morphology, Joint hyperf...	ORPHA:2050
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Paronychia, Nail dystrophy, Anonychia, Abnormality of the nail	ORPHA:79404
Congenital Tracheomalacia	Failure to thrive, Ventricular septal defect, Tracheomalacia, Cardiomegaly, Partial anomalous pul...	ORPHA:95430
Phakomatosis Pigmentokeratotica	Cryptorchidism, Patchy alopecia, Pheochromocytoma	ORPHA:2874
Paternal Uniparental Disomy Of Chromosome 6	Joint laxity, Hepatomegaly, Ventricular septal defect, Cardiomegaly, Shallow orbits, Umbilical he...	ORPHA:96191
Otopalatodigital Syndrome, Type Ii	Omphalocele, Cataract, Hypospadias, Elbow contracture, Spina bifida, Widow's peak, Hydrocephalus,...	OMIM:304120
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus	OMIM:307000
Oxoglutaric Aciduria	Hydrocephalus, Abnormal urine alpha-ketoglutarate concentration, Ataxia	ORPHA:31
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response, Epiblepharon, Irritability, Lateral ventricle dilatation, Dysphagia...	OMIM:618367
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Cherubism	Optic neuropathy, Macular scar, Lower eyelid retraction, Marcus Gunn pupil, Submandibular lymph n...	OMIM:118400
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus, Limitation of joint mobility, Tracheomalacia	ORPHA:93259
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dementia, Dystonia	OMIM:272750
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Joint laxity, Large for gestational age, Sparse eyebrow, Gait ataxia...	OMIM:617011
Fetal Akinesia Deformation Sequence 1	Hip contracture, Telecanthus, Small for gestational age, Elbow contracture, Camptodactyly of fing...	OMIM:208150
Iniencephaly	Omphalocele, Encephalocele, Renal agenesis, Congenital diaphragmatic hernia, Spina bifida, Myelom...	ORPHA:63259
Fraser Syndrome 3	Hypoplasia of the bladder, Hypoplasia of penis, Hydrocephalus, Ureteral agenesis, Bilateral renal...	OMIM:617667
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Alopecia, Cryptorchidism, Loss of eyelashes, Thin eyebrow, Sparse hair	ORPHA:2636
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hip osteoarthritis, Limitation of joint mobility, Opacification of the corneal stroma	OMIM:313400
Double Outlet Left Ventricle	Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspi...	ORPHA:3427
Pneumocystosis	Weight loss, Abnormal neutrophil count	ORPHA:723
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Hip contracture, Generalized lymphadenopathy, Ankle flexion contracture, Reduced bone mineral den...	OMIM:620232
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Achondroplasia	Limited elbow extension, Hydrocephalus, Generalized joint laxity, Limited hip extension	OMIM:100800
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Renal dupl...	ORPHA:573278
Melkersson-Rosenthal Syndrome	Lymphadenopathy, Oligosacchariduria	ORPHA:2483
Steinert Myotonic Dystrophy	Alopecia, Decreased response to growth hormone stimulation test, Early balding, Ovarian carcinoma...	ORPHA:273
Hyperekplexia 1	Umbilical hernia, Inguinal hernia, Exaggerated startle response	OMIM:149400
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Relapsing Polychondritis	Alopecia	ORPHA:728
Singleton-Merten Syndrome 1	Waddling gait, Osteopenia, Mitral valve calcification, Cardiomegaly, Congestive heart failure, Ao...	OMIM:182250
Sacral Defect With Anterior Meningocele	Myeloschisis, Neurogenic bladder, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus trac...	OMIM:600145
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Ring Chromosome 13 Syndrome	Alopecia, Hypoplasia of the gallbladder	ORPHA:96176
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Lip telangiectasia, ...	ORPHA:79280
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract, Irregular tarsal ...	OMIM:221800
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Ataxia	ORPHA:1861
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Conotruncal defect	OMIM:243440
Mohr Syndrome	Hydrocephalus, Telecanthus	OMIM:252100
Large Congenital Melanocytic Nevus	Hydrocephalus, Generalized hirsutism	ORPHA:626
Townes-Brocks Syndrome 1	Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hypospadias, Urethr...	OMIM:107480
Turner Syndrome Due To Structural X Chromosome Anomalies	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Increased circulating gonadotropi...	ORPHA:99413
Mosaic Monosomy X	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Increased circulating gonadotropi...	ORPHA:99228
Monosomy X	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Increased circulating gonadotropi...	ORPHA:99226
Turner Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Increased circulating gonadotropi...	ORPHA:881
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Oeis Complex	Omphalocele, Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal...	OMIM:258040
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Hydrolethalus Syndrome 1	Accessory spleen, Omphalocele, Ventricular septal defect, Hypospadias, Complete atrioventricular ...	OMIM:236680
Laurin-Sandrow Syndrome	Hydrocephalus, Limitation of joint mobility, Tarsal synostosis	ORPHA:2378
Neurofibromatosis, Type I	Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypertension, Renal artery stenosis, Lisch nodules	OMIM:162200
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Microphthalmia, Syndromic 6	Sclerocornea, Orbital cyst, Renal hypoplasia, Microcornea, Lambdoidal craniosynostosis, Failure t...	OMIM:607932
Loeys-Dietz Syndrome 2	Joint laxity, Inguinal hernia, Bicuspid aortic valve, Craniosynostosis, Hydrocephalus, Bicuspid p...	OMIM:610168
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Enuresis, Neural tube defect, Difficulty walkin...	ORPHA:268810
Chronic Graft Versus Host Disease	Alopecia, Onycholysis, Nail dystrophy	ORPHA:99921
Loeys-Dietz Syndrome 1	Joint laxity, Bicuspid aortic valve, Craniosynostosis, Hydrocephalus, Bicuspid pulmonary valve, M...	OMIM:609192
Ciliary Dyskinesia, Primary, 43	Abdominal situs inversus, Noncommunicating hydrocephalus	OMIM:618699
Hypoplasminogenemia	Hydrocephalus, Decreased level of plasminogen, Nephrolithiasis, Dandy-Walker malformation	ORPHA:722
Lhermitte-Duclos Disease	Hydrocephalus, Ataxia	ORPHA:65285
Craniofacial Microsomia 1	Occipital encephalocele, Multicystic kidney dysplasia, Ventricular septal defect, Renal agenesis,...	OMIM:164210
Pituitary Deficiency Due To Rathke Cleft Cysts	Intracranial hemorrhage, Hydrocephalus, Optic nerve compression	ORPHA:91350
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Alobar holoprosencephaly, Single ventricle, Holoprosence...	OMIM:157170
Viss Syndrome	Sparse scalp hair, Alopecia, Hirsutism	OMIM:619472
Holoprosencephaly 9	Holoprosencephaly, Hydrocephalus, Micropenis, Optic nerve hypoplasia	OMIM:610829
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Intestinal bleeding, Lymphadenopathy	ORPHA:424016
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Lethal Omphalocele-Cleft Palate Syndrome	Omphalocele, Hydrocephalus	ORPHA:2736
Vascular Ehlers-Danlos Syndrome	Alopecia, Abnormality of hair texture, Abnormal eyelash morphology, Cryptorchidism, Aplasia/Hypop...	ORPHA:286
Pallister-Killian Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Sparse anter...	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
Skin - MPATH pathological process term inflammation	Sox21^em1(IMPC)Mbp	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 Sox21.

No publications found that use IMPC mice or data for Sox21.

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MGI Allele	Allele Type	Produced
Sox21^em1(IMPC)Mbp	Whole-gene deletion	Mice, Tissue
Sox21^{tm464323(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Sox21 MGI:2654070

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

Human diseases caused by Sox21 mutations

Histopathology

IMPC related publications

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