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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
abnormal brain morphology	Sox21^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased bone mineral content	Sox21^em1(IMPC)Mbp	HOM	Early adult	1.18×10^-06
abnormal lymph node morphology	Sox21^em1(IMPC)Mbp	HOM	Early adult	0.00
hyperactivity	Sox21^em1(IMPC)Mbp	HOM	Early adult	1.38×10^-05
enlarged heart	Sox21^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased exploration in new environment	Sox21^em1(IMPC)Mbp	HOM	Early adult	6.18×10^-05
decreased body length	Sox21^em1(IMPC)Mbp	HOM	Early adult	1.51×10^-12
increased monocyte cell number	Sox21^em1(IMPC)Mbp	HOM	Early adult	4.17×10^-08
decreased grip strength	Sox21^em1(IMPC)Mbp	HOM	Early adult	3.63×10^-07
increased mean corpuscular volume	Sox21^em1(IMPC)Mbp	HOM	Early adult	9.71×10^-07
enlarged lymph nodes	Sox21^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased bone mineral density	Sox21^em1(IMPC)Mbp	HOM	Early adult	7.88×10^-06
abnormal liver morphology	Sox21^em1(IMPC)Mbp	HOM	Early adult	0.00
small liver	Sox21^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal heart morphology	Sox21^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased circulating serum albumin level	Sox21^em1(IMPC)Mbp	HOM	Early adult	8.51×10^-06
hydrocephaly	Sox21^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal skin morphology	Sox21^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased startle reflex	Sox21^em1(IMPC)Mbp	HOM	Early adult	4.03×10^-06
abnormal kidney morphology	Sox21^em1(IMPC)Mbp	HOM	Early adult	0.00
increased lean body mass	Sox21^em1(IMPC)Mbp	HOM	Early adult	5.41×10^-06
increased neutrophil cell number	Sox21^em1(IMPC)Mbp	HOM	Early adult	4.37×10^-06
decreased total body fat amount	Sox21^em1(IMPC)Mbp	HOM	Early adult	7.89×10^-06
decreased circulating HDL cholesterol level	Sox21^em1(IMPC)Mbp	HOM	Early adult	2.87×10^-13
abnormal coat/ hair morphology	Sox21^em1(IMPC)Mbp	HOM	Early adult	5.09×10^-16
decreased lymphocyte cell number	Sox21^em1(IMPC)Mbp	HOM	Early adult	7.55×10^-08
enlarged kidney	Sox21^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased circulating cholesterol level	Sox21^em1(IMPC)Mbp	HOM	Early adult	7.88×10^-09
decreased locomotor activity	Sox21^em1(IMPC)Mbp	HOM	Early adult	2.56×10^-12

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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 (1456 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	Palmoplantar keratoderma, Abnormality of the nail, Abnormal hair morphology	ORPHA:50942
Keratosis Palmoplantaris Striata Iii	Palmoplantar keratoderma, Abnormality of the nail, Abnormal hair morphology	OMIM:607654
Alopecia Areata 2	Alopecia totalis, Alopecia universalis, Alopecia of scalp, Patchy alopecia	OMIM:610753
Graham Little-Piccardi-Lassueur Syndrome	Perifollicular hyperkeratosis, Sparse scalp hair, Sparse pubic hair, Sparse axillary hair, Alopecia	ORPHA:505
Discoid Fibromas, Familial Multiple	Abnormal hair morphology	OMIM:190340
Ringed Hair	Abnormal hair morphology	OMIM:180600
Hairy Nose Tip	Abnormal hair morphology	OMIM:139630
Alopecia Universalis Congenita	Absent pubic hair, Absent eyelashes, Absent eyebrow, Absent axillary hair, Alopecia universalis	OMIM:203655
Hypotrichosis Simplex	Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alopecia	ORPHA:55654
Alopecia Areata 1	Patchy alopecia, Nail pits, Trachyonychia, Alopecia totalis, Alopecia universalis	OMIM:104000
Hypotrichosis 4	Uncombable hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Alopecia	OMIM:146550
Alopecia-Intellectual Disability Syndrome 1	Alopecia universalis, Alopecia	OMIM:203650
Hypotrichosis 11	Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Sparse hair, Absent axillary hair,...	OMIM:615059
Odonto-Onycho Dysplasia-Alopecia Syndrome	Sparse body hair, Sparse eyebrow, Abnormal fingernail morphology, Sparse hair, Hypoplastic toenai...	ORPHA:2722
Ectodermal Dysplasia 6, Hair/Nail Type	Thin toenail, Dystrophic toenail, Sparse hair, Alopecia	OMIM:614928
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia of scalp, Alopecia	OMIM:260910
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia of scalp, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Dystrophic to...	OMIM:617294
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Nail dystrophy, Plantar hyperkeratosis, Alopecia	OMIM:616487
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Nail pits, Congenital alopecia totalis, Ridged nail	ORPHA:169095
Monilethrix	Perifollicular hyperkeratosis, Nail dysplasia, Nail dystrophy, Brittle hair, Abnormality of hair ...	OMIM:158000
Parc Syndrome	Alopecia, Absent eyelashes, Absent eyebrow	OMIM:600331
L-Ferritin Deficiency	Alopecia	OMIM:615604
Erythrokeratodermia Variabilis Et Progressiva 5	Hyperkeratosis, Abnormal hair morphology, Onychogryposis, Palmoplantar hyperkeratosis	OMIM:617756
Hidrotic Ectodermal Dysplasia	Nail dystrophy, Small nail, Generalized hypotrichosis, Sparse axillary hair, Sparse hair, Fine ha...	ORPHA:189
Trichodysplasia-Xeroderma Syndrome	Trichorrhexis nodosa, Coarse hair, Brittle hair, Sparse scalp hair, Sparse body hair, Sparse eyeb...	ORPHA:3361
Hypotrichosis 1	Abnormality of the nail, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse pubic hair, S...	OMIM:605389
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Trichodysplasia, Alopecia of scalp	ORPHA:79129
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair	ORPHA:1410
Candidiasis, Familial, 1	Alopecia	OMIM:114580
Marie Unna Hereditary Hypotrichosis	Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Al...	ORPHA:444
Ectodermal Dysplasia 4, Hair/Nail Type	Nail dystrophy, Brittle hair, Abnormal sweat gland morphology, Absent eyelashes, Absent eyebrow, ...	OMIM:602032
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Palmoplantar Keratoderma And Congenital Alopecia 1	Nail dysplasia, Leukonychia, Brittle hair, Sparse eyebrow, Sparse hair, Palmoplantar keratoderma,...	OMIM:104100
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Nail pits, Nail dystrophy, Ridged nail, Alopecia	OMIM:601705
Hypotrichosis 5	Absent pubic hair, Abnormal sweat gland morphology, Abnormality of the nail, Sparse eyelashes, Th...	OMIM:612841
Angioma Serpiginosum, X-Linked	Hyperkeratosis, Nail dystrophy, Fine hair, Sparse hair	OMIM:300652
Hypertrichosis Lanuginosa Congenita	Congenital, generalized hypertrichosis, Double eyebrow	OMIM:145700
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Pili Torti	Brittle hair, Abnormality of the nail, Abnormality of hair texture, Abnormal eyebrow morphology, ...	ORPHA:2889
Pili Bifurcati	Abnormality of hair texture, Abnormal hair morphology	ORPHA:720
Moynahan Syndrome	Hyperkeratosis, Sparse hair, Alopecia	ORPHA:2574
Monilethrix	Brittle hair, Slow-growing hair, Abnormality of the nail, Abnormal eyelash morphology, Patchy alo...	ORPHA:573
Crandall Syndrome	Brittle hair, Abnormal testis morphology, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Fi...	ORPHA:202
Hypertrichosis, Congenital Generalized, 2	Congenital, generalized hypertrichosis, Hirsutism	OMIM:307150
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Elevated circul...	OMIM:619868
Kerion Celsi	Alopecia	ORPHA:499
Anonychia With Flexural Pigmentation	Alopecia of scalp, Abnormal hair morphology, Hyperkeratosis, Anonychia, Follicular hyperkeratosis	ORPHA:69125
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Anemia, Intention tremor, Thrombocytopenia, Splenomegaly, Hypocholester...	OMIM:610539
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Alopecia universalis, Abnormal eyelash morphology, Sparse body hair, Sparse scalp hair	ORPHA:1008
Ectodermal Dysplasia 7, Hair/Nail Type	Dystrophic fingernails, Brittle hair, Abnormal sweat gland morphology, Dystrophic toenail, Sparse...	OMIM:614929
Palmoplantar Keratoderma And Congenital Alopecia 2	Nail dysplasia, Nail dystrophy, Hyperkeratosis, Palmoplantar hyperkeratosis, Alopecia totalis	OMIM:212360
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
Quinquaud Folliculitis Decalvans	Patchy alopecia, Abnormal hair morphology, Scarring alopecia of scalp	ORPHA:346
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Methylcobalamin Deficiency Type Cble	Glomerulopathy, Hemolytic-uremic syndrome, Macrocytic anemia, Pancytopenia, Increased mean corpus...	ORPHA:2169
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Leukope...	OMIM:615285
Immunodeficiency 27A	Anorexia, Anemia, Lymphadenopathy, Salmonella osteomyelitis, Leukocytosis, Hepatosplenomegaly, Sp...	OMIM:209950
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypoproteinemia, Leukopenia, Splen...	OMIM:267700
Congenital Smooth Muscle Hamartoma, With Or Without Hemihypertrophy	Hypertrichosis	OMIM:620470
Pseudopelade Of Brocq	Abnormal hair morphology, Abnormality of the nail, Sparse scalp hair, Aplasia/Hypoplasia of the e...	ORPHA:129
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Elevated circulating hepatic transamin...	OMIM:619644
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormal hair morphology, Abnormal fingernail morphology, Abnormal toenail morphology, Fine hair,...	ORPHA:248
Olmsted Syndrome, X-Linked	Parakeratosis, Subungual hyperkeratosis, Hyperkeratosis, Alopecia totalis, Palmoplantar hyperkera...	OMIM:300918
Woolly Hair, Autosomal Recessive 3	Trichorrhexis nodosa, Sparse scalp hair, Curly hair, Sparse eyelashes, Sparse hair, Fine hair	OMIM:616760
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Nail dysplasia, Nail dystrophy, Palmar hyperkeratosis, Hyperkeratotic papule, Plantar hyperkerato...	ORPHA:79397
Ectodermal Dysplasia-Syndactyly Syndrome 1	Coarse hair, Small nail, Sparse scalp hair, Patchy alopecia, Sparse eyelashes, Hypoplastic toenai...	OMIM:613573
Hypertrichosis, Anterior Cervical	Anterior cervical hypertrichosis	OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type	Congenital, generalized hypertrichosis	OMIM:145701
Leishmaniasis	Anorexia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Lymphade...	ORPHA:507
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased body mass index, Elevate...	ORPHA:247585
Olmsted Syndrome 2	Parakeratosis, Perioral hyperkeratosis, Hyperkeratosis, Woolly hair, Sparse hair, Palmoplantar hy...	OMIM:619208
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Onychogryposis of fingernail, Fingernail dysplasia, Ridged fingernail, Sparse hair, Palmoplantar ...	ORPHA:2251
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, El...	OMIM:308240
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hypoproteinemia, L...	OMIM:603553
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Jaundice, Elevated circulating hepatic transaminase concentration, Cirrhosis, Tu...	OMIM:619902
Clouston Syndrome	Nail dysplasia, Nail dystrophy, Brittle hair, Absent pubic hair, Slow-growing hair, Small nail, A...	OMIM:129500
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactive protein concentration, Eleva...	OMIM:620632
Nephrotic Syndrome, Type 7	Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr...	OMIM:615008
Erythrokeratodermia Variabilis Et Progressiva 2	Palmoplantar keratoderma, Hypertrichosis	OMIM:617524
Pili Torti-Onychodysplasia Syndrome	Nail dystrophy, Trichodysplasia, Brittle hair, Absent eyelashes, Absent eyebrow, Sparse body hair...	ORPHA:2890
Hypergonadotropic Hypogonadism And Partial Alopecia	Streak ovary, Alopecia	OMIM:241090
Aicardi-Goutieres Syndrome 9	Elevated circulating hepatic transaminase concentration, Pericarditis, Lateral ventricle dilatati...	OMIM:619487
Keratoderma Hereditarium Mutilans With Ichthyosis	Parakeratosis, Nail dystrophy, Onychogryposis, Hyperkeratosis, Honeycomb palmoplantar hyperkerato...	ORPHA:79395
Macrophage Activation Syndrome	Decreased liver function, Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal ...	ORPHA:158061
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Thoracic hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertri...	OMIM:117850
Epidermolysis Bullosa, Junctional 5A, Intermediate	Alopecia of scalp, Nail dystrophy, Absent pubic hair, Onycholysis of distal fingernails, Absent a...	OMIM:619816
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Low posterior hairline, Bone marrow hypocellularity, Leukopenia, Splenomegaly, N...	OMIM:617303
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Failure to thrive, Neutrophilia, Thrombocytopenia, Splenomeg...	OMIM:226990
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula...	ORPHA:3202
Schöpf-Schulz-Passarge Syndrome	Ovarian neoplasm, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Palmoplantar keratoderma, Alopecia	ORPHA:50944
Cortisone Reductase Deficiency 1	Hirsutism, Alopecia	OMIM:604931
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu...	OMIM:613496
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Decreased liver function, Hematuria, Anemia, Increased mean corpuscular volume, Ventricular septa...	OMIM:617021
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Oliver-Mcfarlane Syndrome	Decreased response to growth hormone stimulation test, Long eyebrows, Long eyelashes, Sparse hair...	OMIM:275400
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase...	ORPHA:64743
Bjornstad Syndrome	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr...	OMIM:262000
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Anorexia, Rickets, Isothenuria, Hypokalemia, Reticulocytosis, Failure to thrive, Nephrocalcinosis...	OMIM:611590
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti, Follicular hyperkeratosis	OMIM:607903
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Cardiomyopathy, Elevated circulating alanine am...	OMIM:613752
Porphyria Cutanea Tarda	Onycholysis, Facial hypertrichosis, Alopecia	OMIM:176100
Olmsted Syndrome 1	Nail dysplasia, Parakeratosis, Nail dystrophy, Hyperparakeratosis, Periorificial hyperkeratosis, ...	OMIM:614594
Palmoplantar Keratoderma And Woolly Hair	Leukonychia, Sparse scalp hair, Woolly hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, ...	OMIM:616099
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Broad-based gait, Elevated circulating alanine aminotransferase conce...	OMIM:618805
Alopecia Totalis	Alopecia of scalp, Onycholysis, Fragile nails, Nail pits, Trachyonychia, Alopecia totalis	ORPHA:700
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con...	OMIM:616050
Familial Hemophagocytic Lymphohistiocytosis	Decreased liver function, Cholestatic liver disease, Hypertriglyceridemia, Jaundice, Anemia, Hemo...	ORPHA:540
Flynn-Aird Syndrome	Hyperkeratosis, Alopecia of scalp, Alopecia	OMIM:136300
Keratoderma Hereditarium Mutilans	Abnormality of the nail, Hyperkeratosis, Abnormal toenail morphology, Honeycomb palmoplantar hype...	ORPHA:494
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Toenail dysplasia, Sparse scalp hair, Abnormal fingernail morphology, Hypoplastic toenails, Finge...	ORPHA:2325
Congenital Disorder Of Glycosylation, Type Ia	Steatorrhea, Elevated circulating hepatic transaminase concentration, Proximal tubulopathy, Cardi...	OMIM:212065
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center, Endocardial fibrosis	OMIM:235550
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Dystrophic fingernails, Dystrophic toenail, Sparse scalp hair, Sparse eyebrow, Fine hair, Alopecia	ORPHA:1882
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri...	OMIM:205950
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Polycystic kidney dysplasia, Hypocholesterolemia, Pericardial effusion, Failure to ...	OMIM:608776
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia	OMIM:242510
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced...	OMIM:617610
Congenital Enterovirus Infection	Myocarditis, Irritability, Anemia, Abnormal macrophage morphology, CSF lymphocytic pleiocytosis, ...	ORPHA:292
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Jaundice, Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th...	OMIM:613839
Epidermolysis Bullosa, Junctional 1A, Intermediate	Nail dystrophy, Patchy alopecia, Plantar hyperkeratosis, Fragile nails	OMIM:226650
Focal Segmental Glomerulosclerosis 1	Anemia, Hyperlipidemia, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Proteinuria, ...	OMIM:603278
Shwachman-Diamond Syndrome	Aplastic anemia, Steatorrhea, Elevated circulating hepatic transaminase concentration, Macrocytic...	ORPHA:811
Wolcott-Rallison Syndrome	Jaundice, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Hepato...	ORPHA:1667
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Sickle Cell Anemia	Chronic hemolytic anemia, Jaundice, Iron deficiency anemia, Cholelithiasis, Increased mean corpus...	ORPHA:232
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Hydrocephalus, Vacuolated lymphocytes, Nephrotic syndrome, Failure to t...	OMIM:269920
Bone Marrow Failure Syndrome 3	Aplastic anemia, Nail dystrophy, Hyperechogenic pancreas, Reduced bone mineral density, Hyperacti...	OMIM:617052
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Limb ataxia, Truncal ataxia, Tremor, Elevated circulating creatine kinase concentration, Cognitiv...	OMIM:208920
Erythrokeratodermia Variabilis	Abnormal hair morphology, Abnormality of the nail, Hyperkeratosis, Abnormal testis morphology, Pa...	ORPHA:317
Intrinsic Factor Deficiency	Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic...	OMIM:261000
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Hypoalbuminemia, Obesity, Craniosynostosis	ORPHA:88643
Woolly Hair-Skin Fragility Syndrome	Palmoplantar keratoderma, Acantholysis, Woolly hair	OMIM:620415
Congenital Toxoplasmosis	Jaundice, Elevated circulating hepatic transaminase concentration, Anemia, Hepatomegaly, Lymphade...	ORPHA:858
Beta-Thalassemia Intermedia	Decreased liver function, Reduced bone mineral density, Proximal tubulopathy, Anemia of inadequat...	ORPHA:231222
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly...	OMIM:619013
Bone Marrow Failure Syndrome 6	Osteopenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow h...	OMIM:618849
H Syndrome	Hypertriglyceridemia, Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Hydrocephalus,...	ORPHA:168569
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc...	OMIM:202700
Hypotrichosis 7	Brittle hair, Abnormal sweat gland morphology, Abnormality of the nail, Sparse scalp hair, Woolly...	OMIM:604379
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Elevated circulating hepatic transaminase concentration, H...	OMIM:608836
Bile Acid Synthesis Defect, Congenital, 1	Rickets, Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepati...	OMIM:607765
Idiopathic Trachyonychia	Nail dystrophy, Thin nail, Ridged nail, Toenail dysplasia, Abnormality of the periungual region, ...	ORPHA:79153
Refractory Celiac Disease	Normocytic anemia, Elevated circulating hepatic transaminase concentration, Iron deficiency anemi...	ORPHA:398063
Analbuminemia	Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor...	OMIM:616000
Ichthyosis, Congenital, Autosomal Recessive 1	Nail dysplasia, Parakeratosis, Nail dystrophy, Sparse hair, Palmoplantar hyperkeratosis, Alopecia	OMIM:242300
Ectodermal Dysplasia 9, Hair/Nail Type	Absent hair, Nail dystrophy, Abnormal sweat gland morphology, Abnormal sebaceous gland morphology...	OMIM:614931
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:616860
Reni Syndrome	Hypertriglyceridemia, Focal segmental glomerulosclerosis, Podocyte foot process effacement, Nephr...	OMIM:617575
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thromboc...	OMIM:603552
Nephronophthisis 16	Situs inversus totalis, Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney...	OMIM:615382
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Alopecia of scalp, Generalized hyperkeratosis, Absent pubic hair, Sparse eyebrow, Absent axillary...	ORPHA:2269
Primary Membranoproliferative Glomerulonephritis	Acute kidney injury, Glomerular subendothelial electron-dense deposits, Nephrotic syndrome, Micro...	ORPHA:54370
Diamond-Blackfan Anemia 6	Macrocytic anemia, Tracheomalacia, Increased mean corpuscular volume, Ventricular hypertrophy, Pe...	OMIM:612561
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia	OMIM:620534
Wilson Disease	Portal fibrosis, Limb dystonia, Acute hepatic failure, Splenomegaly, Dysphagia, High noncerulopla...	OMIM:277900
Autoimmune Lymphoproliferative Syndrome, Type Iii	Splenomegaly, Stage 5 chronic kidney disease, Hepatosplenomegaly, Increased proportion autoreacti...	OMIM:615559
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Increased mean corpuscular volume, Vesicoureteral reflux, Osteopor...	OMIM:612562
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Premature graying of hair, Cirrhosis, Nail dystrophy, Anemia, Increased mean cor...	OMIM:127550
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Decreased response to growth hormone stimulation test, Long eyelashes, Sparse hair, Cryptorchidis...	ORPHA:3363
Nephrotic Syndrome, Type 2	Hyperlipidemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbumine...	OMIM:600995
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Palmoplantar keratoderma, Nail dystrophy, Alopecia totalis	ORPHA:1366
Mu-Heavy Chain Disease	Hepatomegaly, Bence Jones Proteinuria, Anemia, Lymphadenopathy, Osteoporosis, Splenomegaly, Abnor...	ORPHA:100024
Alg1-Cdg	Decreased liver function, Abnormality of the kidney, Cardiomyopathy, Limitation of joint mobility...	ORPHA:79327
Vohwinkel Syndrome, Variant Form	Parakeratosis, Abnormal hair morphology, Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, O...	OMIM:604117
Pineocytoma	Difficulty walking, Memory impairment, Hydrocephalus, Increased CSF protein concentration, Episod...	ORPHA:251912
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Perimembranous ventricular septal defect, Hepatomegaly, Anemia, Cholest...	OMIM:608104
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Joint stiffness, Bone marrow hypocellularity, Abnormal heart morphology, Leukope...	ORPHA:505248
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Focal Segmental Glomerulosclerosis 6	Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein...	OMIM:614131
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Osteopenia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Cellulitis, Ly...	ORPHA:486
Witkop Syndrome	Ridged nail, Abnormal sweat gland morphology, Hypoplastic fifth toenail, Nail pits, Sparse hair, ...	OMIM:189500
Mantle Cell Lymphoma	Anorexia, Lymphadenopathy, Splenomegaly, Weight loss	ORPHA:52416
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Pulmonic stenosis, Leukopenia, Splenomegaly, Lymphopenia, Neutropenia, Inguinal...	OMIM:612541
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P...	OMIM:185000
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Monocytosis, Bone marrow hypocellularity, Leukopenia, Refractory anemia	OMIM:616871
Trichohepatoenteric Syndrome 1	Cholestasis, Cognitive impairment, Pulmonic stenosis, Renal cortical microcysts, Splenomegaly, Sp...	OMIM:222470
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Steatorrhea, Elevated circulating hepatic transaminase c...	ORPHA:14
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Coarse hair	OMIM:234030
Peroxisome Biogenesis Disorder 3B	Elevated CSF guanidinoacetic acid concentration, Steatorrhea, Hepatomegaly, Elevated urine trihyd...	OMIM:266510
Woolly Hair, Autosomal Dominant	Coarse hair, Slow-growing hair, Abnormal eyelash morphology, Woolly hair, Abnormal eyebrow morpho...	OMIM:194300
Glycogen Storage Disease Ib	Xanthelasma, Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:232220
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia	ORPHA:94124
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:367
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Nail dysplasia, Nail dystrophy, Scarring alopecia of scalp, Sparse eyelashes, Sparse eyebrow, Pal...	OMIM:612843
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ...	OMIM:619802
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Homocystinuria, Increased mean corpuscular volume, Hyperhomocystinemia, M...	OMIM:277410
Pseudoprogeria Syndrome	Absent eyelashes, Absent eyebrow, Sparse eyebrow, Sparse hair, Alopecia	ORPHA:2985
Galloway-Mowat Syndrome 8	Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Enamel hypoplasia, Renal tubul...	OMIM:618349
Alg6-Cdg	Jaundice, Failure to thrive, Decreased LDL cholesterol concentration, Ataxia, Abnormality of the ...	ORPHA:79320
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia	OMIM:607250
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei...	OMIM:620058
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Alopecia	ORPHA:1067
Al Amyloidosis	Abnormality of the kidney, Renal interstitial amyloid deposits, Hepatomegaly, Anemia, Increased c...	ORPHA:85443
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Congenital Disorder Of Glycosylation, Type Ib	Cirrhosis, Hepatomegaly, Lymphangiectasis, Steatorrhea, Proximal tubulopathy, Renal cyst, Failure...	OMIM:602579
Nephrotic Syndrome, Type 9	Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Steroid-r...	OMIM:615573
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ...	ORPHA:90362
Hypotrichosis 12	Sparse or absent eyelashes, Abnormal sweat gland morphology, Slow-growing hair, Abnormality of th...	OMIM:615885
Immunodeficiency 104	Hepatomegaly, Failure to thrive secondary to recurrent infections, Lymphadenopathy, T lymphocytop...	OMIM:608971
Lichen Planopilaris	Abnormal fingernail morphology, Onycholysis, Hyperkeratosis, Alopecia	ORPHA:525
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ...	OMIM:208540
Galloway-Mowat Syndrome 6	Decreased body weight, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Motor...	OMIM:618347
Diarrhea 13	Hypoalbuminemia, Hepatic steatosis, Failure to thrive, Elevated circulating hepatic transaminase ...	OMIM:620357
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ataxia, Motor stereotypy, Attention deficit hyperactivity disorder, Ventriculomegaly	OMIM:618709
Immunodeficiency 15B	Failure to thrive, Monocytosis, Reduced natural killer cell count	OMIM:615592
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating hepatic transaminase concentration, Abnormal circulating homocysteine concen...	ORPHA:88618
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612563
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Progressive psychomotor deterioration, Abnormal dental enamel morphology, Polyph...	ORPHA:251004
Nephrotic Syndrome, Type 15	Minimal change glomerulonephritis, Proteinuria, Hypoalbuminemia, Steroid-resistant nephrotic synd...	OMIM:617609
Hypotrichosis 13	Sparse eyelashes, Sparse hair, Woolly hair, Abnormal sweat gland morphology	OMIM:615896
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Neph...	OMIM:616730
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Generalized amin...	OMIM:251880
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Xanthelasma, Enlarged kidney, Hepatocellular adenoma, Tubulointerstitial fi...	ORPHA:79259
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis	OMIM:619281
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Patchy alopecia	OMIM:247100
Congenital Dyserythropoietic Anemia Type Iii	Increased total iron binding capacity, Anemia, Elevated circulating hepatic transaminase concentr...	ORPHA:98870
Castleman Disease	Jaundice, Hematuria, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Elevated circulating C...	ORPHA:160
Trichotillomania	Alopecia	OMIM:613229
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co...	OMIM:615234
Tyrosinemia, Type I	Enlarged kidney, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, Nephr...	OMIM:276700
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Abnormal sweat gland morphology, Abnormality of the nail, Absent eyelashes, Sparse scalp hair, Ab...	OMIM:607823
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Normochromic anemia, Nephropathy, Focal segmental glomerulosclerosis, Intention t...	OMIM:254900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Premature graying of hair, Increased mean corpuscular volume, Portal hypertension, Thrombocytopen...	OMIM:620367
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Renal-Hepatic-Pancreatic Dysplasia 2	Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Cholestasis, Hypertrop...	OMIM:615415
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus, Irritability, Limitation of joint mobility, Ataxia	ORPHA:99966
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Nail dystrophy, Elevated circulating hepatic transaminase concentration, Cachexia, Splenomegaly, ...	ORPHA:37042
Nasu-Hakola Disease	Acute leukemia, Irritability, Reduced bone mineral density, Abnormal adipose tissue morphology, M...	ORPHA:2770
Potocki-Lupski Syndrome	Oral-pharyngeal dysphagia, Hyperactivity, Abnormal renal morphology, Patent foramen ovale, Hypoch...	OMIM:610883
Mucopolysaccharidosis, Type Iiib	Coarse hair, Hepatomegaly, Dense calvaria, Hyperactivity, Hirsutism, Synophrys, Asymmetric septal...	OMIM:252920
1Q21.1 Microduplication Syndrome	Hypospadias, Hydrocephalus, Failure to thrive, Tetralogy of Fallot, Attention deficit hyperactivi...	ORPHA:250994
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Right atrial...	OMIM:306955
Aa Amyloidosis	Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Nephr...	ORPHA:85445
Hypotrichosis Simplex Of The Scalp	Slow-growing scalp hair, Parakeratosis, Alopecia of scalp, Hyperkeratosis, Sparse scalp hair, Fin...	ORPHA:90368
Griscelli Syndrome	Premature graying of hair, Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymp...	ORPHA:381
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Gait imbalance, Elevated circulating creatine kinase concentration, Head tremor, Urinary bladder ...	ORPHA:64753
Pachyonychia Congenita	Nail dystrophy, Palmoplantar keratoderma, Onychogryposis of toenails, Alopecia, Linear arrays of ...	ORPHA:2309
Hereditary Mucoepithelial Dysplasia	Hyperkeratosis, Fine hair, Sparse hair, Alopecia	ORPHA:1839
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Alopecia-Intellectual Disability Syndrome	Alopecia, Sparse body hair, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:2850
Ectodermal Dysplasia/Skin Fragility Syndrome	Alopecia of scalp, Nail dystrophy, Dystrophic fingernails, Absent eyelashes, Absent eyebrow, Spar...	OMIM:604536
Dominant Beta-Thalassemia	Irritability, Cirrhosis, Jaundice, Hypochromic microcytic anemia, Abnormality of iron homeostasis...	ORPHA:231226
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir...	OMIM:618528
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia, Failure to thrive	OMIM:615863
Bacterial Toxic-Shock Syndrome	Myocarditis, Fasciitis, Renal insufficiency, Hypocalcemia, Arthritis, Confusion, Recurrent urinar...	ORPHA:36234
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Fractures of the long bones, Abnorm...	ORPHA:464329
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:300946
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,...	OMIM:620565
Bathing Suit Ichthyosis	Parakeratosis, Nail dystrophy, Sparse hair, Palmoplantar hyperkeratosis, Alopecia	ORPHA:100976
Liver Failure, Infantile, Transient	Irritability, Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Jau...	OMIM:613070
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Acute kidney injury, Abnormal circulating lipid concentration, Hypercholest...	ORPHA:567548
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Hypoalbuminemia, Proteinuria	OMIM:614652
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Intestinal lymphangiectasia, Ectopic kidney, Spina bifida occulta, ...	OMIM:235510
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Squalene Synthase Deficiency	Irritability, Hypospadias, Knee flexion contracture, Increased circulating farnesol concentration...	OMIM:618156
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Irritability, Chronic hemolytic anemia, Hepatomegaly, Microvesicular hepatic steatosis, Ventricul...	OMIM:618278
Beta-Thalassemia Major	Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume, Irritability, J...	ORPHA:231214
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia, Hepatomegaly, Hyperactivity, Tremor, Dystonia, Ataxia, Mental deterioration	OMIM:615924
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Hyperactivity, Hydrocephalus, Tremor, Elbow flexion contracture, Motor stereoty...	OMIM:619470
Diamond-Blackfan Anemia	Normochromic anemia, Macrocytic dyserythropoietic anemia, Abnormal heart morphology, Leukopenia, ...	ORPHA:124
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Sparse eyelashes, Sparse eyebrow, Nail dysplasia, Alopecia	OMIM:615704
Majeed Syndrome	Anemia of inadequate production, Failure to thrive, Hepatosplenomegaly, Flexion contracture, Decr...	OMIM:609628
Fibronectin Glomerulopathy	Glomerulopathy, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematur...	ORPHA:84090
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Failure to thrive, Spleno...	OMIM:617514
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Hydrocephalu...	OMIM:610333
Alg12-Cdg	Abnormal bone ossification, Muscular ventricular septal defect, Elevated circulating hepatic tran...	ORPHA:79324
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anorexia, Hepatomegaly, Anemia, Pancreatitis, Cardiomyopathy, Hyperammonemia, Failure to thrive, ...	ORPHA:79312
Fibrodysplasia Ossificans Progressiva	Alopecia	ORPHA:337
Niemann-Pick Disease, Type A	Irritability, Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Inability to walk, Bone-marr...	OMIM:257200
Eosinophilic Gastroenteritis	Steatorrhea, Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinop...	ORPHA:2070
Dermatopathia Pigmentosa Reticularis	Alopecia of scalp, Nail dystrophy, Palmoplantar hyperkeratosis	OMIM:125595
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia	OMIM:620044
Developmental And Epileptic Encephalopathy 36	Hydrocephalus, Self-mutilation, Hepatomegaly, Flexion contracture	OMIM:300884
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Sabinas Brittle Hair Syndrome	Nail dysplasia, Nail dystrophy, Brittle hair, Sparse hair, Dry hair	OMIM:211390
Congenital Ichthyosiform Erythroderma	Palmoplantar keratoderma, Abnormality of the nail, Alopecia	ORPHA:79394
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Intestinal lymphangiectasia, Anemia, Iron deficiency anemia, Hepatomegaly, Hypoproteinemia, Hypoa...	OMIM:226300
Adult Idiopathic Neutropenia	Monocytopenia, Monocytosis, Neutropenia, Lymphopenia	ORPHA:2688
Epidermolysis Bullosa, Lethal Acantholytic	Absent fingernail, Anonychia, Alopecia totalis, Alopecia universalis, Acantholysis	OMIM:609638
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Nail dystrophy, Woolly hair, Sparse eyelashes, Sparse eyebrow, Palmoplantar hyperkeratosis, Palmo...	OMIM:605676
Classic Mycosis Fungoides	Abnormality of the nail, Hyperkeratosis, Alopecia	ORPHA:2584
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma, Cognitive impairment	ORPHA:2807
Immunodeficiency 53	Recurrent urinary tract infections, Failure to thrive, Neutrophilia, Impaired lymphocyte transfor...	OMIM:617585
Edinburgh Malformation Syndrome	Jaundice, Hydrocephalus, Frontal hirsutism, Failure to thrive, Neonatal hyperbilirubinemia	OMIM:129850
Neuraminidase Deficiency	Hepatomegaly, Inguinal hernia, Epiphyseal stippling, Vacuolated lymphocytes, Bone-marrow foam cel...	OMIM:256550
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Highly arched eyebrow, Abnormal hair pattern, Thrombocytopenia...	ORPHA:261250
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Decreased liver function, Jaundice, Intrahepatic cholestasis, Duplicated collecting system, Eleva...	OMIM:617093
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, ...	OMIM:613101
Alopecia Universalis	Abnormality of the nail, Absent eyelashes, Patchy alopecia, Absent eyebrow, Alopecia universalis	ORPHA:701
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Elevated urinary inosine level, Hypouricemia, Neutropenia in presenc...	OMIM:613179
Chylomicron Retention Disease	Steatorrhea, Hypotriglyceridemia, Failure to thrive, Decreased LDL cholesterol concentration, Hyp...	OMIM:246700
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Nephronophthisis 2	Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Situs inve...	OMIM:602088
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Splenomegaly, Sparse hair, Umbilical hernia, Pathologic fracture, Cardiomegaly, ...	OMIM:252500
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the kidney, Liver abscess, Elevated circulating hepatic transaminase concentration...	ORPHA:54251
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Cholestasis, Acute hepatic failure, Sple...	ORPHA:171
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Xanthelasma, Cirrhosis, Jaundice, Hepatomegaly, Hyperch...	ORPHA:186
Diaphanospondylodysostosis	Absent in utero rib ossification, Enlarged kidney, Abnormal liver lobulation, Inguinal hernia, Tr...	OMIM:608022
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Trichothiodystrophy 6, Nonphotosensitive	Brittle hair, Slow-growing hair, Increased bone mineral density, Broad-based gait, Tiger tail ban...	OMIM:616943
Meckel Syndrome, Type 8	Occipital encephalocele, Enlarged kidney, Encephalocele, Polycystic kidney dysplasia, Pericardial...	OMIM:613885
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Splenomegaly, Alopecia	ORPHA:100025
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Elevated circula...	ORPHA:449395
Ethanolaminosis	Cardiomegaly	OMIM:227150
Generalized Pustular Psoriasis	Elevated circulating hepatic transaminase concentration, Elevated circulating C-reactive protein ...	ORPHA:247353
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Reduced bone mineral density, Recurrent urinary tract infections, Joint stiffness, ...	OMIM:620210
Nephrotic Syndrome, Type 1	Glomerular sclerosis, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Renal tubul...	OMIM:256300
Ataxia-Oculomotor Apraxia 4	Cognitive impairment, Obesity, Dystonia, Ataxia, Elevated circulating alpha-fetoprotein concentra...	OMIM:616267
Alopecia-Intellectual Disability Syndrome 4	Bilateral cryptorchidism, Alopecia	OMIM:618840
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Increased bone mineral density, Arthritis, Leukocytosis, S...	ORPHA:37748
Ichthyosis, Congenital, Autosomal Recessive 2	Thin nail, Small nail, Abnormal hair morphology, Hyperkeratosis, Palmoplantar keratoderma, Alopecia	OMIM:242100
Autosomal Recessive Polycystic Kidney Disease	Polydipsia, Enlarged kidney, Cholestasis, Cognitive impairment, Biliary hyperplasia, Splenomegaly...	ORPHA:731
Glycogen Storage Disease Ia	Xanthelasma, Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:232200
Genetic Steroid-Resistant Nephrotic Syndrome	Irritability, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria,...	ORPHA:656
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia of scalp, Nail dystrophy, Multinodular goiter, Palmoplantar keratoderma, Alopecia	OMIM:618373
Hypotrichosis 14	Sparse body hair, Short eyelashes, Sparse pubic hair, Sparse hair, Absent axillary hair	OMIM:618275
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation, Elevated circulating creatine kinase concentration, Ele...	OMIM:607091
Avian Influenza	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Elevated circulatin...	ORPHA:454836
Hyperparathyroidism, Transient Neonatal	Osteopenia, Enlarged kidney, Subperiosteal bone formation, Unilateral renal agenesis, Inguinal he...	OMIM:618188
Pontocerebellar Hypoplasia, Type 15	Anemia, Hydrocephalus, Chronic neutropenia, Dystonia, Thrombocytopenia	OMIM:619302
Nephrotic Syndrome, Type 6	Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi...	OMIM:614196
Carnitine Deficiency, Systemic Primary	Dicarboxylic aciduria, Hepatomegaly, Decreased circulating carnitine concentration, Microvesicula...	OMIM:212140
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Tremor, Gait disturbance, Kinetic tremor, Ventriculomegaly	OMIM:611808
Mpi-Cdg	Decreased liver function, Hepatomegaly, Portal hypertension, Failure to thrive, Hypoalbuminemia, ...	ORPHA:79319
Myopathy With Extrapyramidal Signs	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypervalinemia, Difficulty...	OMIM:615673
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Splenomegaly, Redu...	ORPHA:158057
Griscelli Syndrome Type 2	Premature graying of hair, Jaundice, Hepatomegaly, Hemophagocytosis, Hypopigmentation of hair, Pa...	ORPHA:79477
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Alopecia	OMIM:203550
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ...	ORPHA:86839
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Alopecia, Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse body hair, Hydrocele testis	ORPHA:69735
Marburg Hemorrhagic Fever	Elevated circulating hepatic transaminase concentration, Reticulocytosis, Pericarditis, Hyperammo...	ORPHA:99826
Amoebiasis Due To Entamoeba Histolytica	Lung abscess, Liver abscess, Elevated circulating hepatic transaminase concentration, Anemia, Leu...	ORPHA:67
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f...	ORPHA:730
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Generalized lipodystrophy, Progressive psychomotor...	ORPHA:363400
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Cellulitis, Leukopenia, Hepato...	OMIM:618986
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Nail dystrophy, Yellow nails, Ridged nail, Sparse lateral eyebrow, Onycholysis, Alopecia	OMIM:614564
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Large for gestational age, Enlarged kidney, Inguinal hernia, Umbilical hernia, Nephroblastoma	OMIM:618272
Hypotrichosis And Recurrent Skin Vesicles	Leukonychia, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse axilla...	OMIM:613102
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation, Orbital craniosynostosis	ORPHA:1538
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Anorexia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Weight loss	ORPHA:86893
Leukocyte Adhesion Deficiency, Type Iii	Osteopetrosis, Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenome...	OMIM:612840
Hereditary Bullous Dystrophy, Macular Type	Nail dystrophy, Atrichia, Decreased testicular size, Congenital abnormal hair pattern, Cryptorchi...	ORPHA:1867
Aggressive Systemic Mastocytosis	Decreased liver function, Anorexia, Anemia, Increased proportion of CD25+ mast cells, Lymphadenop...	ORPHA:98850
Nicolaides-Baraitser Syndrome	Curly eyelashes, Highly arched eyebrow, Abnormal testis morphology, Long eyelashes, Abnormal hair...	ORPHA:3051
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Hyperactivity, Colpocephaly, Splenomegaly, Hypocholesterolemia, Hepati...	OMIM:270400
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Hyperlysinemia, Type I	Increased CSF lysine concentration, Argininuria, Anemia, Decreased CSF arginine concentration, Hy...	OMIM:238700
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Hemochromatosis, Type 3	Cirrhosis, Elevated circulating hepatic transaminase concentration, Anemia, Arthritis, Cardiomyop...	OMIM:604250
Hypobetalipoproteinemia, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Elevated circulating ...	OMIM:615558
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Limited elbow movement, Difficulty walking, Elevated circulating hepatic...	OMIM:300280
Pontocerebellar Hypoplasia, Type 14	Hydrocephalus, Thrombocytopenia, Dystonia, Chronic neutropenia	OMIM:619301
Glycine Encephalopathy 1	Irritability, Hyperactivity, Hyperglycinuria, Impulsivity, Restlessness, Hyperglycinemia, Letharg...	OMIM:605899
Nephronophthisis 3	Polydipsia, Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, ...	OMIM:604387
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Nephrotic Syndrome, Type 3	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Diffuse mes...	OMIM:610725
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils, Radioulnar synostosis	ORPHA:2760
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Immunodeficiency 43	Lung abscess, B lymphocytopenia, Hypoproteinemia, Decreased circulating beta-2-microglobulin leve...	OMIM:241600
Heme Oxygenase 1 Deficiency	Increased circulating ferritin concentration, Hepatomegaly, Hematuria, Lymphadenopathy, Elevated ...	OMIM:614034
Maternal Uniparental Disomy Of Chromosome 4	Spastic gait, Depression, Neurogenic bladder, Decreased body weight, Elevated circulating creatin...	ORPHA:96180
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Cirrhosis, Elevated circulating hepatic transaminase concentration, Decreased circulating cerulop...	OMIM:242150
Congenital Disorder Of Glycosylation, Type Iil	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Unilateral rena...	OMIM:614576
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Elevated circulating alpha-aminoadipic semialdehyde concentration, Elevated circulating pipecolic...	OMIM:266100
Burkitt Lymphoma	Abnormal lymph node morphology, Hyperuricemia, Decreased proportion of CD4-positive helper T cell...	ORPHA:543
Cronkhite-Canada Syndrome	Hypoplastic toenails, Dystrophic fingernails, Dystrophic toenail, Patchy alopecia, Sparse body ha...	ORPHA:2930
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ...	OMIM:235200
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosi...	OMIM:619534
Gaucher Disease	Decreased HDL cholesterol concentration, Joint stiffness, Leukopenia, Splenomegaly, Dysphagia, At...	ORPHA:355
Osteopetrosis, Autosomal Recessive 1	Femur fracture, Osteopetrosis, Hepatomegaly, Anemia, Calvarial osteosclerosis, Pancytopenia, Hypo...	OMIM:259700
Rhabdoid Tumor	Irritability, Renal neoplasm, Hematuria, Anemia, Lymphadenopathy, Thrombocytopenia, Hypercalcemia...	ORPHA:69077
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Anemia, Decreased circulating carnitine concentration, Depression, Decreased body weight, Failure...	ORPHA:89842
Kawasaki Disease	Abnormality of nail color, Irritability, Cervical lymphadenopathy, Jaundice, Myocarditis, Elevate...	ORPHA:2331
Adult-Onset Still Disease	Myocarditis, Abnormal circulating lipid concentration, Increased circulating ferritin concentrati...	ORPHA:829
Alg9-Cdg	Enlarged kidney, Abnormal bone ossification, Low posterior hairline, Abnormal heart morphology, R...	ORPHA:79328
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Alopecia of scalp, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Failure to thrive, Lym...	OMIM:602450
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Dicarboxylic aciduria, Elevated circulating hepatic transaminase concen...	ORPHA:42
Localized Junctional Epidermolysis Bullosa	Dystrophic fingernails, Nail dystrophy, Scarring alopecia of scalp, Dystrophic toenail, Sparse pu...	ORPHA:251393
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Anemia, Elevated circulating hepatic transaminase concentration, Decreased t...	ORPHA:300298
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Classic Hodgkin Lymphoma	Anorexia, Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Ataxia, Splenomegaly, Weigh...	ORPHA:391
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Reduced bone mineral density, Elevated circulating hepatic transaminase...	OMIM:613658
Beemer Lethal Malformation Syndrome	Hydrocephalus, Thrombocytopenia	OMIM:209970
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P...	ORPHA:398124
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Arthritis, Recurrent urinary tract infections, Abnormal ly...	ORPHA:47612
Combined Oxidative Phosphorylation Deficiency 37	Decreased liver function, 3-Methylglutaconic aciduria, Elevated circulating hepatic transaminase ...	OMIM:618329
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Hypotriglyceridemia, Hirsutism, Increased body weight, ...	ORPHA:2298
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperalaninemia, Long eyel...	OMIM:619064
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Parakeratosis, Thick hair, Bile duct proliferation, Sparse eyelashes, Sparse eyebrow, Sparse hair...	OMIM:607626
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Osteoporosis, Mastocytos...	ORPHA:98848
Immunodeficiency 82 With Systemic Inflammation	Anorexia, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, B lymph...	OMIM:619381
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatomegaly, Generalized lipodystrophy, Hypercholesterolemia, Hypocalcemia...	OMIM:612526
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells...	OMIM:300853
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Spina bifida occulta, Increase...	OMIM:105650
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Thrombocytopenia	OMIM:166990
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Arthritis, Hepatocellular carcinoma, Ch...	ORPHA:465508
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair	ORPHA:50812
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Arthritis, Leukocytosis, ...	OMIM:611762
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Tangier Disease	Hypertriglyceridemia, Nail dystrophy, Anemia, Chronic noninfectious lymphadenopathy, Coronary art...	ORPHA:31150
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Decreased HDL cholesterol concentration, Decreased glomerular filtratio...	ORPHA:85450
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Nephronophthisis, Hepatomegaly, Hydrocephalus, Cholestasis, Obesity, Splenomegaly, Chronic kidney...	OMIM:615630
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Brittle hair, Hypertrophic cardiomyopathy, Sparse eyebrow, Hypocholesterolemia, Mic...	OMIM:618810
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Cystic renal dysplasia, Hepatomegaly, Omphalocele, Craniosynostosis, Hepatic fib...	OMIM:200995
Anemia, Hypochromic Microcytic, With Iron Overload 1	Anemia, Hypochromia, Elevated hepatic iron concentration, Increased circulating iron concentratio...	OMIM:206100
Lysinuric Protein Intolerance	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Argininuria, Elevated circulating ...	ORPHA:470
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Cinca Syndrome	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Arthritis, Leukoc...	OMIM:607115
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:604765
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Ogden Syndrome	Left atrial enlargement, Enlarged kidney, Dysphagia, Umbilical hernia, Cardiomegaly, Bicuspid aor...	OMIM:300855
Erythroderma, Lethal Congenital	Hypoalbuminemia, Failure to thrive	OMIM:227090
Legionnaires Disease	Myocarditis, Anorexia, Jaundice, Hematuria, Pancreatitis, Lymphadenopathy, Hepatitis, Bone marrow...	ORPHA:549
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy, Abnormality of connective tissue, Rhe...	ORPHA:79128
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Hypomelanosis Of Ito	Alopecia	OMIM:300337
Nephrotic Syndrome, Type 8	Thin glomerular basement membrane, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Hypoa...	OMIM:615244
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Red...	ORPHA:1451
2,4-Dienoyl-Coa Reductase Deficiency	Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration, Increased CSF lysine conce...	OMIM:616034
Pseudo-Torch Syndrome 3	Acute kidney injury, Anemia, Leukocytosis, Lymphadenitis, Proteinuria, Cardiomegaly, Increased ci...	OMIM:618886
Adult Syndrome	Breast hypoplasia, Toenail dysplasia, Abnormality of the nail, Hypoplastic nipples, Sparse scalp ...	ORPHA:978
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Patchy alopecia, Failure to thrive, S...	OMIM:615387
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai...	ORPHA:276
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Ventriculomegaly, Alopecia, Decreased FOXP3-expressing T cell count, Art...	OMIM:304790
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Hepatomegaly, Hypochromic microcyt...	ORPHA:97214
Ménétrier Disease	Anorexia, Hypochromic microcytic anemia, Hypoproteinemia, Weight loss, Hypoalbuminemia	ORPHA:2494
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Leukopenia, Splenomeg...	OMIM:278000
Familial Pseudohyperkalemia	Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom...	ORPHA:90044
Primary Myelofibrosis	Anorexia, Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Cach...	ORPHA:824
Juvenile Huntington Disease	Bradykinesia, Irritability, Progressive cerebellar ataxia, Broad-based gait, Depression, Hyperact...	ORPHA:248111
Immunodeficiency 96	Increased mean corpuscular volume, Increased proportion of gamma-delta T cells, Multicystic kidne...	OMIM:619774
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly, Weight loss	ORPHA:66661
Gómez-López-Hernández Syndrome	Hydrocephalus, Alopecia of scalp, Ataxia, Cognitive impairment	ORPHA:1532
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Nail dystrophy, Abnormality of the anterior pituitary, Brittle hair, Posterior pituitary hypoplas...	ORPHA:75389
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anem...	OMIM:617591
Rhizomelic Chondrodysplasia Punctata	Sparse body hair, Alopecia	ORPHA:177
Whipple Disease	Myocarditis, Polydipsia, Anorexia, Hepatomegaly, Mediastinal lymphadenopathy, Anemia, Depression,...	ORPHA:3452
Xfe Progeroid Syndrome	Elevated circulating hepatic transaminase concentration, Cachexia, Corneal scarring, Enamel hypop...	OMIM:610965
Mucopolysaccharidosis Type 3	Reduced bone mineral density, Hyperactivity, Joint stiffness, Abnormal mitral valve morphology, A...	ORPHA:581
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Limb ataxia, Increased CSF lactate, Truncal ataxia, Ventricular hypertrophy, Hyperalaninemia, Hyp...	OMIM:619051
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Autoimmune Polyendocrinopathy Type 2	Hypoparathyroidism, Alopecia	ORPHA:3143
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia...	OMIM:314390
Satoyoshi Syndrome	Alopecia universalis, Alopecia	OMIM:600705
Galloway-Mowat Syndrome 1	Ventriculomegaly, Dandy-Walker malformation, Focal segmental glomerulosclerosis, Camptodactyly, N...	OMIM:251300
Osteopetrosis, Autosomal Recessive 2	Cranial hyperostosis, Osteopetrosis, Anemia, Pancytopenia, Diaphyseal sclerosis, Recurrent fractu...	OMIM:259710
Hemifacial Atrophy, Progressive	Patchy alopecia, Poliosis	OMIM:141300
Chylomicron Retention Disease	Steatorrhea, Elevated circulating hepatic transaminase concentration, Acanthocytosis, Failure to ...	ORPHA:71
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, M...	OMIM:617156
Congenital Lethal Erythroderma	Hypoalbuminemia, Failure to thrive	ORPHA:1954
Systemic Lupus Erythematosus 17	Alopecia	OMIM:301080
Oculocerebrocutaneous Syndrome	Cryptorchidism, Alopecia	OMIM:164180
Osteopetrosis, Autosomal Recessive 5	Irritability, Cranial hyperostosis, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Osteopet...	OMIM:259720
Dyskeratosis Congenita, Autosomal Recessive 6	Nail dystrophy, Sparse hair, Alopecia	OMIM:616353
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating...	OMIM:620282
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Aplasia/Hypoplasia of the eyebrow, Nail dystrophy, Dystrophic fingernails, Highly arched eyebrow,...	ORPHA:3253
Mucopolysaccharidosis, Type Iiic	Coarse hair, Hepatomegaly, Dense calvaria, Hyperactivity, Hirsutism, Synophrys, Asymmetric septal...	OMIM:252930
B4Galt1-Cdg	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hydrocephalus, Dandy-Walke...	ORPHA:79332
Meacham Syndrome	Enlarged kidney, Transposition of the great arteries, Dextrocardia, Cardiac total anomalous pulmo...	OMIM:608978
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia	OMIM:616576
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste...	OMIM:600649
Phenylketonuria	Irritability, Increased level of hippuric acid in urine, Depression, Hyperactivity, Hyperphenylal...	OMIM:261600
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:169154
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventricular septal defect, Joint hypermobility, Ventriculomegaly, Hernia, Nephrobl...	OMIM:602501
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Nail dystrophy, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Ly...	OMIM:615895
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Coombs-posi...	OMIM:619375
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym...	OMIM:603554
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Arthritis, Failure to th...	ORPHA:397596
Beckwith-Wiedemann Syndrome	Congenital diaphragmatic hernia, Enlarged kidney, Ureteral duplication, Multiple renal cysts, Spl...	ORPHA:116
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Myoglobinuria, Red-brown urine, Cardiomyopathy, Hyperlipidemia...	ORPHA:228308
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypomethioninemia, Neutropenia, Acute kidney injury, Hemolytic-uremic syndrome, Cystathioninuria,...	OMIM:277400
Adenocarcinoma Of The Esophagus	Obesity, Lymphadenopathy	ORPHA:99976
Laryngeal Neuroendocrine Tumor	Anorexia, Oral-pharyngeal dysphagia, Elevated circulating carcinoembryonic antigen concentration,...	ORPHA:100083
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Enlarged kidney, Mesocardia, Coronary sinus enlargement, Dysplas...	OMIM:618280
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Small pituitary gland, Alopecia	OMIM:612079
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Failure to thrive, Lethargy, Gait disturbance	ORPHA:26
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, F...	OMIM:618495
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Mye...	ORPHA:457077
Ataxia-Telangiectasia	Premature graying of hair, Elevated circulating hepatic transaminase concentration, Hypopigmentat...	ORPHA:100
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Secondary Intestinal Lymphangiectasia	Cirrhosis, Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Lymphope...	ORPHA:90363
Hsd10 Disease, Infantile Type	Increased CSF lactate, Hypertrophic cardiomyopathy, Hyperammonemia, Dystonia, Loss of ambulation,...	ORPHA:391428
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy...	ORPHA:39041
Bleeding Disorder, Platelet-Type, 21	Alopecia	OMIM:617443
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation, Sagittal craniosynostosis	OMIM:123155
Osteootohepatoenteric Syndrome	Reduced bone mineral density, Portal fibrosis, Anemia, Increased serum bile acid concentration, H...	OMIM:619377
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphop...	OMIM:620603
Roifman Syndrome	Hepatomegaly, Lymphadenopathy, Noncompaction cardiomyopathy, Ventricular septal defect, Hip contr...	OMIM:616651
Chédiak-Higashi Syndrome	Decreased liver function, Hypertriglyceridemia, Elevated circulating hepatic transaminase concent...	ORPHA:167
Mucopolysaccharidosis, Type Iiia	Coarse hair, Hepatomegaly, Dense calvaria, Inguinal hernia, Hyperactivity, Hirsutism, Synophrys, ...	OMIM:252900
Galloway-Mowat Syndrome 3	Glomerular sclerosis, Ventriculomegaly, Camptodactyly, Nephrotic syndrome, Failure to thrive, Dif...	OMIM:617729
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal lymph node mo...	ORPHA:911
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Scarring, Nail dystrophy, Anemia, Craniosynostosis, Atrophic scars, Enamel hypoplasia, Failure to...	ORPHA:79396
Incontinentia Pigmenti	Nail dysplasia, Breast hypoplasia, Nail dystrophy, Ridged nail, Breast aplasia, Onychogryposis, H...	OMIM:308300
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Obesity, Lipodystrophy, Hypoalbuminemia, Increased alpha-globuli...	ORPHA:86816
Fried Syndrome	Hydrocephalus, Gait disturbance, Aggressive behavior	ORPHA:85335
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Inability to walk, Hydrocephalus, Cardiomyopathy, Elevated circulating creatine kinase concentrat...	OMIM:613155
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Lympha...	OMIM:610377
Sézary Syndrome	Palmoplantar keratoderma, Nail dystrophy, Alopecia	ORPHA:3162
Pfapa Syndrome	Hepatomegaly, Lymphadenopathy, Arthritis, Splenomegaly, Weight loss	ORPHA:42642
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia	OMIM:215100
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, Myeloproliferative diso...	ORPHA:3226
Chudley-Mccullough Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:604213
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating hepatic transaminase concentration, Abnormal cortical bone morphology, Chole...	OMIM:614886
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Inability to walk by childhood/adolescence, Steppage gait, Hydrocephalus, Restless legs, Flexion ...	ORPHA:99947
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi...	OMIM:620135
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia	OMIM:240500
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Palmoplantar keratoderma, Abnormal fingernail morphology, Sparse hair, Alopecia	ORPHA:659
Renpenning Syndrome	Decreased testicular size, Abnormal hairshaft morphology, Thin eyebrow, Alopecia	ORPHA:3242
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Weight loss, Abnormal circula...	ORPHA:103910
Carnitine Palmitoyltransferase I Deficiency	Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ren...	OMIM:255120
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Large for gestational age, Enlarged kidney, Abnormal right ventricle morpholog...	ORPHA:500095
Acute Bilirubin Encephalopathy	Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hemolyt...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hemolyt...	ORPHA:529808
Helsmoortel-Van Der Aa Syndrome	Enlarged kidney, Hyperactivity, Abnormal heart morphology, Dysphagia, Mitral valve prolapse, Late...	OMIM:615873
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conce...	ORPHA:1454
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Alopecia, Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Epidermal hyperk...	OMIM:137940
Centrifugal Lipodystrophy	Alopecia	ORPHA:90156
Chediak-Higashi Syndrome	Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Silver-gray hair, Hypopigmentation of hair, Lym...	OMIM:214500
Albers-Schönberg Osteopetrosis	Anemia, Hypocalcemia, Abnormal leukocyte morphology, Arthritis, Recurrent fractures, Hydrocephalu...	ORPHA:53
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy, Osteolysis	ORPHA:158014
Roifman Syndrome	Lymphadenopathy, Noncompaction cardiomyopathy, Delayed proximal femoral epiphyseal ossification, ...	ORPHA:353298
Acquired Aneurysmal Subarachnoid Hemorrhage	Memory impairment, Hydrocephalus, Increased CSF lactate, Hyperglycorrhachia, Leukocytosis, Cognit...	ORPHA:90065
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia	ORPHA:88630
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced myoglobinuria, Dicarboxylic aciduria, Hepatomegaly, Periportal fibrosis, Decreas...	OMIM:201475
Mulibrey Nanism	Hepatomegaly, Pericardial constriction, Enamel hypoplasia, Myocardial fibrosis, Thickened cortex ...	OMIM:253250
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Hydrocephalus, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Rapp-Hodgkin Syndrome	Nail dystrophy, Pili canaliculi, Decreased number of sweat glands, Small nail, Slow-growing hair,...	OMIM:129400
Menkes Disease	Alopecia, Sparse hair, Brittle hair	OMIM:309400
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Hyperconvex fingernails, Hypoplastic fingernail, Alopecia	ORPHA:257
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Failur...	OMIM:618048
Graft Versus Host Disease	Irritability, Dupuytren contracture, Jaundice, Elevated circulating hepatic transaminase concentr...	ORPHA:39812
Follicular Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology, Splenomegaly, Weigh...	ORPHA:545
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abs...	OMIM:150550
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Abnormal Hair, Joint Laxity, And Developmental Delay	Trichorrhexis nodosa, Small nail, Sparse lateral eyebrow, Fragile nails, Pili torti, Alopecia	OMIM:261990
Tularemia	Cervical lymphadenopathy, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Confusion, Leukoc...	ORPHA:3392
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Failure to thrive, Splenomegaly, Reduced natural killer cell count	OMIM:609981
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Failure to thrive, Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentrati...	OMIM:616834
Coach Syndrome 2	Elevated circulating creatinine concentration, Portal fibrosis, Elevated circulating hepatic tran...	OMIM:619111
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Anemia, Cardiomegaly, Akinesia, Decreased body weight, Thrombocytopenia, Opisthoton...	OMIM:608013
Pigmented Nodular Adrenocortical Disease, Primary, 4	Adrenal hyperplasia, Hirsutism, Alopecia	OMIM:615830
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Eleva...	OMIM:619750
Greig Cephalopolysyndactyly Syndrome	Hypospadias, Inguinal hernia, Ventriculomegaly, Hydrocephalus, Hirsutism, Omphalocele, Camptodact...	OMIM:175700
Renal Dysplasia	Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure...	ORPHA:93108
Hurler Syndrome	Cranial hyperostosis, Hepatomegaly, Inguinal hernia, Hydrocephalus, Hirsutism, Cardiomyopathy, Ca...	OMIM:607014
Williams-Beuren Region Duplication Syndrome	Unilateral renal agenesis, Hydrocephalus, Gait disturbance, Long eyelashes, Horizontal eyebrow, F...	OMIM:609757
Mucoepithelial Dysplasia, Hereditary	Nail dysplasia, Nail dystrophy, Follicular hyperkeratosis, Chronic monilial nail infection, Spars...	OMIM:158310
Congenital Disorder Of Glycosylation, Type Im	Sparse eyelashes, Hyperkeratosis, Sparse eyebrow, Alopecia	OMIM:610768
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, T lymphocytopenia, Failure to thrive, Absence of lymph node germinal center, L...	ORPHA:277
Granulomatous Slack Skin	Hypercalcemia, Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Kikuchi-Fujimoto Disease	Myocarditis, Anorexia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentrat...	ORPHA:50918
Caspase 8 Deficiency	Lymphadenopathy, Failure to thrive, Decreased CD4:CD8 ratio, Splenomegaly	OMIM:607271
Chanarin-Dorfman Syndrome	Alopecia	OMIM:275630
Short Stature, Microcephaly, And Endocrine Dysfunction	Abnormal circulating lipid concentration, Anemia, Unilateral renal agenesis, Ectopic kidney, Ingu...	OMIM:616541
Sickle Cell Disease	Jaundice, Hematuria, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells...	OMIM:603903
Autoimmune Polyendocrinopathy Type 1	Adrenal hyperplasia, Abnormal fingernail morphology, Hypoparathyroidism, Alopecia	ORPHA:3453
Optic Atrophy 11	Hyperactivity, Athetosis, Mildly elevated creatine kinase, Gait apraxia, Stereotypical body rocki...	OMIM:617302
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Arthritis, ...	ORPHA:85414
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Agitation, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Lymphad...	OMIM:615688
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Elevated circulating palmitoleylcarnitine concentration, Hyperammonemia, Abnormal heart morpholog...	ORPHA:79282
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome	Hypopituitarism, Alopecia	OMIM:620651
Carnitine Palmitoyltransferase Ii Deficiency	Renal tubular epithelial necrosis, Hepatomegaly, Hydrocephalus, Myoglobinuria, Polycystic kidney ...	ORPHA:157
Pediatric Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Abnormality of the urinary system, Arthritis, Cognitive impairment, N...	ORPHA:93552
Kleeblattschaedel	Hydrocephalus, Craniosynostosis, Elbow ankylosis	OMIM:148800
Brucellosis	Granuloma, Pericarditis, Intrarenal abscess, Leukopenia, Splenomegaly, Myocarditis, Anorexia, Dep...	ORPHA:1304
Lethal Acantholytic Erosive Disorder	Absent hair, Absent eyelashes, Absent fingernail, Absent eyebrow, Absent toenail, Acantholysis, C...	ORPHA:158687
Mirage Syndrome	Hyperkalemia, Anemia, Hypospadias, Radial club hand, Hydrocephalus, Recurrent urinary tract infec...	OMIM:617053
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Neph...	OMIM:618935
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Periostitis, Osteopenia, Hepatomegaly, Fused cervical vertebrae, Elevated circulating C-reactive ...	OMIM:612852
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Osteopetrosis, Difficulty walking, Diaphyseal sclerosis, Hypocalcemia, Hydrocephalus, Dandy-Walke...	OMIM:618476
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hepatosplenomegal...	OMIM:615122
Masa Syndrome	Hydrocephalus, Ventriculomegaly, Shuffling gait	OMIM:303350
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hypospadias, Hydrocephalus, Renal agenesis, Renal hypoplasia, Radioulnar synostosis, Obesity, Umb...	ORPHA:171839
Johnson Neuroectodermal Syndrome	Absent eyelashes, Absent eyebrow, Sparse hair, Alopecia	ORPHA:2316
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Hypospadias, Decreased skull ossification, Hypertrophic cardiomyopathy, Multiple pren...	OMIM:616897
Poems Syndrome	Leukonychia, Hepatomegaly, Lymphadenopathy, Visceromegaly, Sclerosis of hand bone, Pericardial ef...	ORPHA:2905
Hutchinson-Gilford Progeria Syndrome	Alopecia	OMIM:176670
Adams-Oliver Syndrome 2	Small nail, Low anterior hairline, Alopecia	OMIM:614219
Choreoacanthocytosis	Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Lingual dystonia, Abn...	ORPHA:2388
Mixed Connective Tissue Disease	Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Arthritis, Joint stiffne...	ORPHA:809
Liver Disease, Severe Congenital	Left atrial enlargement, Nail dystrophy, Elevated circulating hepatic transaminase concentration,...	OMIM:619991
Leprechaunism	Enlarged kidney, Hepatomegaly, Hypokalemia, Long penis, Hypercalciuria, Decreased body weight, Hy...	ORPHA:508
Combined Oxidative Phosphorylation Deficiency 10	Hyperalaninemia, Hypertrophic cardiomyopathy, Pericardial effusion, Hyperammonemia, Dystonia, Fai...	OMIM:614702
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Abnormality of the kidney, Inguinal hernia, Hydrocephalus, Dandy-Walker malformation, Sparse scal...	ORPHA:459061
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Depression, Abnormal proportion of CD8-posit...	ORPHA:101096
Phoar2-Enteropathy Syndrome	Hyperostosis, Hypoalbuminemia, Periostosis	OMIM:614441
Coccidioidomycosis	Cognitive impairment, Granuloma, Pericarditis, Osteolysis, Abnormality of the kidney, Hydrocephal...	ORPHA:228123
Multiple Mitochondrial Dysfunctions Syndrome 7	Decreased liver function, Irritability, Agitation, Hyperactivity, Exaggerated startle response, P...	OMIM:620423
Pleural Mesothelioma	Hepatomegaly, Weight loss, Lymphadenopathy, Dysphagia	ORPHA:50251
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Relapsing Fever	Acute kidney injury, Jaundice, Hematuria, Anemia, Elevated circulating hepatic transaminase conce...	ORPHA:91547
Papillary Tumor Of The Pineal Region	Difficulty walking, Memory impairment, Hydrocephalus, Increased CSF protein concentration, Episod...	ORPHA:251915
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Dandy-Walker malformation, Ves...	OMIM:130650
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy...	OMIM:619418
Fanconi Anemia, Complementation Group D2	Annular pancreas, Anemia, Ectopic kidney, Small for gestational age, Pancytopenia, Hydrocephalus,...	OMIM:227646
Triploidy	Hepatomegaly, Abnormality of the gallbladder, Hypospadias, Hypoplasia of penis, Meningocele, Hydr...	ORPHA:3376
Nephronophthisis 18	Nephronophthisis, Portal fibrosis, Hydrocephalus, Cholestasis, Thickened glomerular basement memb...	OMIM:615862
Juvenile Polyposis Of Infancy	Anemia, Cachexia, Abnormal heart morphology, Hypoalbuminemia, Subcutaneous lipoma, Atrial septal ...	ORPHA:79076
Syndromic Diarrhea	Abnormal heart morphology, Splenomegaly, Lymphopenia, Bicuspid aortic valve, Inguinal hernia, Bri...	ORPHA:84064
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Hepatomegaly, Hematuria, Lymphadenopathy, Abnormal heart valve morphology, Arthri...	ORPHA:36412
Histiocytosis-Lymphadenopathy Plus Syndrome	Flexion contracture of toe, Joint contracture of the 5th finger, Pulmonic stenosis, Flexion contr...	OMIM:602782
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Hyperkeratosis, Abnormal toenail morphology, Sparse hair, Alopecia	ORPHA:1005
Temple Syndrome	Hypertriglyceridemia, Truncal obesity, Hydrocephalus, Obesity, Flexion contracture, Joint hypermo...	OMIM:616222
Satoyoshi Syndrome	Sparse or absent eyelashes, Abnormal hair morphology, Hypoplasia of the ovary, Abnormality of the...	ORPHA:3130
Developmental Delay, Language Impairment, And Ocular Abnormalities	Inguinal hernia, Hyperactivity, Impulsivity, Frequent temper tantrums, Pulmonic stenosis, Myelome...	OMIM:620141
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, Patchy alopecia, T lymphocytopen...	OMIM:606367
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Supernumerary nipple, Alopecia	ORPHA:3224
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Hydrocephalus, Renal cyst, Abnormality...	ORPHA:1834
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Abnormal natural kille...	ORPHA:79124
Intellectual Developmental Disorder, X-Linked 30	Agitation, Hyperactivity, Hydrocephalus, Short attention span, Restlessness, Aggressive behavior	OMIM:300558
Flynn-Aird Syndrome	Alopecia	ORPHA:2047
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158048
Cyclic Neutropenia	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Lymphopenia, Tooth abscess, Thrombocyto...	ORPHA:2686
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hydrocephalus, Dandy-Walker malformation, Elevated circulating creatine kinase concentration, Low...	OMIM:613153
Pediatric-Onset Graves Disease	Polydipsia, Irritability, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa...	ORPHA:525731
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, Brittle hair, B lymphocytopenia, Cardiomyopathy, Communicating hyd...	OMIM:616084
Q Fever	Myocarditis, Anorexia, Hepatomegaly, Anemia, Hematuria, Elevated circulating hepatic transaminase...	ORPHA:781
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Increased CSF lactate, Elevated circulating creatine kinase concentration, Failure to thrive, Sma...	OMIM:619055
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Hydrocephalus, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion...	OMIM:261740
Congenital Sialidosis Type 2	Abnormality of the kidney, Hepatomegaly, Inguinal hernia, Hydrocephalus, Generalized hypertrichos...	ORPHA:93400
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Polyuria, Hypocalcemia, Pericardial effusion, Hyponatremia, Hypomagnesemia,...	OMIM:618183
Sandhoff Disease	Urinary incontinence, Hepatomegaly, Progressive psychomotor deterioration, Exaggerated startle re...	OMIM:268800
Cirrhotic Cardiomyopathy	Left atrial enlargement, Abnormal circulating B-type natriuretic peptide concentration, Cirrhosis...	ORPHA:57777
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Inguinal hernia, Hydrocephalus, Abnormal heart valve morphology, Tracheobronchomala...	OMIM:309900
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Hyperlipidemia, Focal segmental glomerulosclerosis, Microscopi...	ORPHA:567546
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Abnormal localization of kidney, Ventricular septal defect, Abnormal cardiac septu...	ORPHA:83473
Bresek Syndrome	Decreased testicular size, Cryptorchidism, Alopecia	ORPHA:85284
Long-Olsen-Distelmaier Syndrome	Subependymal cysts, Elevated circulating alanine aminotransferase concentration, Hyperammonemia, ...	OMIM:620609
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hypospadias, Hydrocephalus, Microphallus, Holoprosencephaly, Hyperechogenic kidn...	OMIM:612651
Glutaric Acidemia I	Glutaric aciduria, Hepatomegaly, Hydrocephalus, Elevated circulating glutaric acid concentration,...	OMIM:231670
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Gait disturbance, Camptodactyly of finger, Flexion contracture, Ventriculomegaly, ...	ORPHA:272
Mandibulofacial Dysostosis With Alopecia	Sparse eyelashes, Alopecia	OMIM:616367
Autosomal Recessive Malignant Osteopetrosis	Osteopetrosis, Hepatomegaly, Anemia, Lymphadenopathy, Reduced bone mineral density, Hypocalcemia,...	ORPHA:667
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Hirsutism, Enlarged polycystic ovaries	ORPHA:90301
Dubowitz Syndrome	Aplastic anemia, Hypospadias, Inguinal hernia, Hyperactivity, Short attention span, Sparse scalp ...	OMIM:223370
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Fine hair, Cryptorchidism, Alopecia	ORPHA:228390
Immunodeficiency 10	Autoimmune hemolytic anemia, Amelogenesis imperfecta, Hepatomegaly, Lymphadenopathy, Recurrent ur...	OMIM:612783
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Abnormal heart morphology, Colpocephaly	ORPHA:2185
Fish-Eye Disease	Lymphadenopathy, Decreased HDL cholesterol concentration, Hepatomegaly, Splenomegaly	ORPHA:79292
Pentalogy Of Cantrell	Congenital diaphragmatic hernia, Hypospadias, Anencephaly, Encephalocele, Hydrocephalus, Renal dy...	ORPHA:1335
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia	OMIM:600785
Emanuel Syndrome	Congenital diaphragmatic hernia, Unilateral renal agenesis, Torticollis, Inguinal hernia, Hydroce...	OMIM:609029
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Multiple muscular ventricular septal defects, Pulmonic stenosis, Hypernatremia, Failure to thrive...	OMIM:615508
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus, Low posterior hairline, Obesity, Mitral valve prolapse, Sparse facial hair, Absent...	ORPHA:2183
Thanatophoric Dysplasia Type 2	Abnormality of the kidney, Encephalocele, Hydrocephalus, Limitation of joint mobility, Cognitive ...	ORPHA:93274
Keutel Syndrome	Alopecia	ORPHA:85202
Multiple Sulfatase Deficiency	Hepatomegaly, Hydrocephalus, Mucopolysacchariduria, Joint stiffness, Thick eyebrow, Splenomegaly,...	ORPHA:585
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Enlarged kidney, Cardiomyopathy, Pulmonic stenosis, Splenomegaly...	OMIM:312870
Cantu Syndrome	Bicuspid aortic valve, Large for gestational age, Cardiomegaly, Curly eyelashes, Osteoporosis, Lo...	OMIM:239850
Distal 7Q11.23 Microduplication Syndrome	Attention deficit hyperactivity disorder, Frontal encephalocele, Congenital diaphragmatic hernia,...	ORPHA:261102
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Renal cortical adenoma, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Pa...	ORPHA:97290
Mucopolysaccharidosis Type 2	Hyperactivity, Cardiomyopathy, Impulsivity, Cognitive impairment, Abnormal epiphyseal ossificatio...	ORPHA:580
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ...	OMIM:616959
Reticular Dysgenesis	Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia	OMIM:267500
Acute Promyelocytic Leukemia	Anorexia, Hematuria, Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Addictive alcohol use, ...	ORPHA:520
Specific Granule Deficiency 1	Abnormal neutrophil count, Neutrophil nuclear clefts, Hyposegmentation of neutrophil nuclei, Impa...	OMIM:245480
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Failure to thrive, Hepatosplenomegaly, Cardiomegaly, Glomer...	ORPHA:99931
Argininemia	Anorexia, Irritability, Spastic gait, Hepatomegaly, Oroticaciduria, Reduced erythrocyte arginase ...	OMIM:207800
Gracile Bone Dysplasia	Hypocalcemia, Hydrocephalus, Decreased skull ossification, Asplenia, Failure to thrive, Hypoplast...	OMIM:602361
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Panniculitis, Lymphadenopathy, Increased proportion of CD4-positive T cells, Elevated circulating...	OMIM:617099
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Depression, Hydrocephalus, Calcium oxalate nephrolithiasis	OMIM:248000
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Hyperhomocystinemia, Meg...	OMIM:617780
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ...	ORPHA:83469
Holoprosencephaly 5	Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Synophrys,...	OMIM:609637
Dandy-Walker Syndrome	Hydrocephalus, Truncal ataxia, Dilated fourth ventricle	OMIM:220200
Ritscher-Schinzel Syndrome 1	Hypospadias, Hydrocephalus, Dandy-Walker malformation, Low posterior hairline, Pulmonic stenosis,...	OMIM:220210
Scrub Typhus	Myocarditis, Lymphadenopathy, Tremor, Splenomegaly, Renal insufficiency, Lethargy	ORPHA:83317
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Nail dystrophy, Absent peripheral lymph nodes in presence of infection, Increased B c...	ORPHA:98813
Fucosidosis	Spastic gait, Hepatomegaly, Vacuolated lymphocytes, Glycopeptiduria, Failure to thrive, Dystonia,...	OMIM:230000
Multiple Myeloma	Osteopenia, Acute kidney injury, Anemia, Lymphadenopathy, Abnormality of the bladder, Nephrotic s...	ORPHA:29073
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Neuroblastoma	Irritability, Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Anemi...	ORPHA:635
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Failure to thrive in inf...	OMIM:618987
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Intestinal lymphangiectasia, Abnormal hair morphology, Lymphopenia	OMIM:152800
Kury-Isidor Syndrome	Hypertrichosis, Alopecia	OMIM:619762
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus, Craniosynostosis, Umbilical hernia	ORPHA:1516
Multiple Sulfatase Deficiency	Hepatomegaly, Hydrocephalus, Increased CSF protein concentration, Mucopolysacchariduria, Ataxia, ...	OMIM:272200
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Hepatomegaly, Generalized lipodystrophy, Lymphadenopathy, Panniculit...	OMIM:619183
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Irritability, Medial flaring of the eyebrow, Hydrocephalus, Long eyelashes, Failure to thrive, Th...	OMIM:619833
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Decreased testicular size, Cryptorchidism, Patchy alopecia	ORPHA:85279
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Thrombocytopenia, Leuko...	ORPHA:83313
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	ORPHA:331206
Monosomy 18P	Low posterior hairline, Alopecia	ORPHA:1598
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Lymphocyto...	ORPHA:139402
Refsum Disease, Classic	Cardiomyopathy, Increased CSF protein concentration, Elevated circulating phytanic acid concentra...	OMIM:266500
Alexander Disease	Hydrocephalus, Ataxia, Increased CSF protein concentration, Dysmetria	OMIM:203450
Hurler Syndrome	Hepatomegaly, Depression, Abnormality of the tonsils, Abnormal heart valve morphology, Hydrocepha...	ORPHA:93473
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Supernumerary nipple, Unilateral renal agenesis, Highly arched eyebrow, Bicoronal synostosis, Hyd...	OMIM:619951
Dihydropyrimidinase Deficiency	Uraciluria, Elevated urinary dihydrothymine level, Hyperactivity, Elevated urinary dihydrouracil ...	OMIM:222748
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Failure to thrive, Enlarged t...	OMIM:308230
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia, Glomerulonephritis	OMIM:247800
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Arthritis, Splenomegaly, Lymphopenia,...	OMIM:616100
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Failure to thrive, Hypertrophic cardiomyopathy	OMIM:614096
Agammaglobulinemia, X-Linked	Anemia, B lymphocytopenia, Recurrent urinary tract infections, Hepatocellular carcinoma, Enterovi...	OMIM:300755
Macrocephaly/Autism Syndrome	Large for gestational age, Hepatomegaly, Short attention span, Obesity, Splenomegaly, Lymphopenia...	OMIM:605309
Adams-Oliver Syndrome	Cirrhosis, Encephalocele, Hydrocephalus, Portal hypertension, Failure to thrive, Thrombocytopenia...	ORPHA:974
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Compulsive behaviors, Neutrophilia, Cellulitis, Widow's peak	OMIM:266265
Acute Monoblastic/Monocytic Leukemia	Anorexia, Cervical lymphadenopathy, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis...	ORPHA:514
Holocarboxylase Synthetase Deficiency	Alopecia	ORPHA:79242
Distal Triplication 15Q	Large for gestational age, Abnormality of the kidney, Hydrocephalus, Polycystic kidney dysplasia,...	ORPHA:314588
Beck-Fahrner Syndrome	Cardiomegaly, Depression, Extra-axial cerebrospinal fluid accumulation, Attention deficit hyperac...	OMIM:618798
Diencephalic Syndrome	Hydrocephalus, Cachexia, Decreased body weight, Long penis	ORPHA:1672
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Obsessive-compulsive trait, Abnormal temper tantrums, Hydrocephalus, Dilated third ventricle, Imp...	ORPHA:500055
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Hyperprolinemia, Hyperalaninemia	OMIM:619170
Osteopetrosis, Autosomal Recessive 7	Femur fracture, Osteopetrosis, Hypocalcemic seizures, Hepatomegaly, Anemia, Hydrocephalus, Abnorm...	OMIM:612301
Attrv30M Amyloidosis	Cardiomyopathy, Abnormal renal physiology, Weight loss, Cardiomegaly, Nephropathy	ORPHA:85447
Fg Syndrome Type 1	Frontal upsweep of hair, Hypospadias, Inguinal hernia, Ventriculomegaly, Hydrocephalus, Broad-bas...	ORPHA:93932
Tropical Endomyocardial Fibrosis	Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Ca...	ORPHA:75565
Transcobalamin Ii Deficiency	Irritability, Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Hyperh...	OMIM:275350
Bartsocas-Papas Syndrome	Alopecia totalis, Hypoplastic toenails, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eye...	ORPHA:1234
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Limb ataxia, 3-Methylglutaconic aciduria, Increased hepatic glycogen content, Depression, Truncal...	OMIM:619259
Immune Dysregulation, Autoimmunity, And Autoinflammation	Abnormal circulating C-reactive protein concentration, Anemia, Cervical lymphadenopathy, Inguinal...	OMIM:620514
Congenital Syphilis	Myocarditis, Periostitis, Anemia, Pancreatitis, Lymphadenopathy, Hydrocephalus, CSF pleocytosis, ...	ORPHA:499009
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl...	ORPHA:79456
Metatropic Dysplasia	Abnormal cortical bone morphology, Hydrocephalus, Abnormal enchondral ossification, Joint stiffne...	ORPHA:2635
Houge-Janssens Syndrome 2	Unilateral renal agenesis, Inability to walk, Hydrocephalus, Gait ataxia, Joint hypermobility, Ve...	OMIM:616362
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia, ...	OMIM:608184
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Decreased circulating cortisol level, Anemia, Elevated circulating creatine kinase ...	OMIM:618838
Transcobalamin Deficiency	Acute kidney injury, Pancytopenia, Thrombocytopenia, Lymphopenia, Methylmalonic aciduria, Neutrop...	ORPHA:859
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormal renal tubule morphology, Reduced bone mineral density, Hydrocephalus, White hair, Ataxia...	ORPHA:2720
Kaufman Oculocerebrofacial Syndrome	Hypocholesterolemia, Failure to thrive, Sparse eyebrow, Sparse hair, Ventriculomegaly, Atrial sep...	OMIM:244450
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Anterior pituitary hypoplasia, Alopecia	ORPHA:453533
Lowry-Maclean Syndrome	Congenital diaphragmatic hernia, Osteopenia, Atrioventricular canal defect, Hypospadias, Inguinal...	ORPHA:2409
Muscle-Eye-Brain Disease	Meningocele, Hydrocephalus, Elevated circulating creatine kinase concentration, Gait disturbance,...	ORPHA:588
Gomez-Lopez-Hernandez Syndrome	Decreased response to growth hormone stimulation test, Alopecia	OMIM:601853
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel...	ORPHA:3261
Kimura Disease	Follicular hyperplasia, Eosinophilia, Lymphadenopathy	ORPHA:482
Waldenström Macroglobulinemia	Anorexia, Normocytic anemia, Hepatomegaly, Lymphadenopathy, Memory impairment, Ataxia, Splenomega...	ORPHA:33226
Sting-Associated Vasculopathy, Infantile-Onset	Nail dystrophy, Anemia, Elevated circulating C-reactive protein concentration, Joint stiffness, F...	OMIM:615934
Amyloidosis, Hereditary, Transthyretin-Related	Limb ataxia, Urinary incontinence, Truncal ataxia, Confusion, Tremor, Cardiomyopathy, Increased C...	OMIM:105210
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus, Ataxia, Inability to walk	OMIM:618174
Diabetic Embryopathy	Transposition of the great arteries, Ureteral duplication, Renal hypoplasia/aplasia, Hydrocephalu...	ORPHA:1926
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Arthritis,...	OMIM:620376
Craniofaciofrontodigital Syndrome	Osteopenia, Bicuspid aortic valve, Large for gestational age, Cardiomegaly, Thick hair, Abnormal ...	ORPHA:363705
Schimke Immuno-Osseous Dysplasia	Anemia, Pancreatitis, Abnormal proportion of naive CD4 T cells, Minimal change glomerulonephritis...	ORPHA:1830
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Delayed pubic bone ossification, Hydrocephalus, Gait disturbance, Delayed vertebral ossification,...	OMIM:613330
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of penis, Leukocytosis, L...	ORPHA:99812
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Breast hypoplasia, Alopecia of scalp, Small pituitary gland, Aplasia of the ovary, Cryptorchidism...	ORPHA:2232
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Nail dysplasia, Nail dystrophy, Alopecia	OMIM:175500
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration, Failure to thrive, Autoimmune thrombocytopeni...	OMIM:245200
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated circulating hepatic transaminase concentration, Hyperactivity, Impulsivity, Cognitive im...	OMIM:619475
Attrv122I Amyloidosis	Anemia, Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Restrictive cardiomyo...	ORPHA:85451
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Hemolytic-uremic syndrome, Anemia, Reduced haptoglobin level, Schistocytosis, Moderate proteinuri...	OMIM:301110
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Joint hypermobility, Hydrocephalus	OMIM:236660
Alexander Disease Type I	Hydrocephalus, Cachexia, Failure to thrive, Ataxia, Dysphagia	ORPHA:363717
Mucopolysaccharidosis, Type Vii	Coarse hair, Hepatomegaly, Hydrocephalus, Abnormal heart valve morphology, Hirsutism, Cardiomyopa...	OMIM:253220
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Polyphagia, Obesity, Self-mutilation, Aggressive behavior	OMIM:616521
Trisomy 17P	High anterior hairline, Broad eyebrow, Hypoplasia of penis, Hydrocephalus, Polycystic kidney dysp...	ORPHA:261290
6P22 Microdeletion Syndrome	Hernia, Hydronephrosis, Hydrocephalus	ORPHA:251046
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon...	ORPHA:860
3C Syndrome	Atrioventricular canal defect, Abnormal tricuspid valve morphology, Hypospadias, Inguinal hernia,...	ORPHA:7
Meckel Syndrome, Type 3	Occipital encephalocele, Hepatomegaly, Hydrocephalus, Dandy-Walker malformation, Bile duct prolif...	OMIM:607361
Herpes Simplex Virus Encephalitis	Elevated circulating C-reactive protein concentration, CSF lymphocytic pleiocytosis, Leukocytosis...	ORPHA:1930
Familial Papillary Or Follicular Thyroid Carcinoma	Papillary renal cell carcinoma, Recurrent fractures, Abnormal lymph node morphology, Chronic noni...	ORPHA:319487
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Hemihyperplasia-Multiple Lipomatosis Syndrome	Lipoatrophy, Enlarged kidney, Abnormality of the lymphatic system, Nephroblastoma, Multiple lipomas	ORPHA:276280
Mucopolysaccharidosis Type 1	Abnormal aortic valve morphology, Inguinal hernia, Hydrocephalus, Abnormality of the tonsils, Abn...	ORPHA:579
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Small nail, Absent eyelashes, Sparse scalp hair, Bilateral cryptorchidism, Absent eyebrow, Sparse...	ORPHA:544488
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly, Enamel hypoplasia, Sparse hair	OMIM:613576
Emanuel Syndrome	Congenital diaphragmatic hernia, Unilateral renal agenesis, Inguinal hernia, Multiple joint contr...	ORPHA:96170
Proteus Syndrome	Abnormal subcutaneous fat tissue distribution, Cranial hyperostosis, Enlarged kidney, Long penis,...	ORPHA:744
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia	OMIM:618282
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Osteopenia, Anemia, Pancytopenia, Waddling gait, Focal segmental glom...	OMIM:242900
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia	OMIM:600142
Tay-Sachs Disease	Limited elbow extension, Inability to walk, Memory impairment, Depression, Increased serum beta-h...	ORPHA:845
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Hajdu-Cheney Syndrome	Decreased skull ossification, Aortic valve stenosis, Splenomegaly, Multiple renal cysts, Umbilica...	ORPHA:955
Sarcoidosis	Decreased liver function, Increased T cell count, Nephrocalcinosis, Leukopenia, Bone cyst, Nephro...	ORPHA:797
Dextrocardia	Situs inversus totalis, Dextrocardia, Hydrocephalus, Abnormal renal morphology, Pancreatic hypopl...	ORPHA:1666
Sneddon Syndrome	Atrophic scars, Tremor, Lymphopenia, Bicuspid aortic valve, Mental deterioration	OMIM:182410
Idiopathic Hypereosinophilic Syndrome	Elevated circulating hepatic transaminase concentration, Portal fibrosis, Myocardial eosinophilic...	ORPHA:3260
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Cholestasis, Lymphopenia, Hepatic steatosis, Decreased CD4:CD8 ratio, Jaund...	OMIM:619573
Fibrodysplasia Ossificans Progressiva	Alopecia	OMIM:135100
Ane Syndrome	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:157954
Greig Cephalopolysyndactyly Syndrome	Congenital diaphragmatic hernia, Craniosynostosis, Hydrocephalus, Umbilical hernia	ORPHA:380
Proteasome-Associated Autoinflammatory Syndrome 1	Premature graying of hair, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevate...	OMIM:256040
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Hydrocephalus	OMIM:300886
Pettigrew Syndrome	Aqueductal stenosis, Calvarial osteosclerosis, Hydrocephalus, Dandy-Walker malformation, Stereoty...	OMIM:304340
Central Neurocytoma	Abnormal lateral ventricle morphology, Depression, Hydrocephalus, Ataxia, Lethargy	ORPHA:73256
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Hydrocephalus, Mitral valve calcification, Mitral stenosis, Splenomeg...	OMIM:231005
Immunodeficiency, Common Variable, 10	Alopecia totalis, Decreased response to growth hormone stimulation test, Trachyonychia	OMIM:615577
Thymic Neuroendocrine Tumor	Osteopenia, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, C...	ORPHA:97289
Acrodermatitis Enteropathica	Ridged nail, Abnormality of the nail, Abnormal eyebrow morphology, Ridged fingernail, Paronychia,...	ORPHA:37
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased proportion of CD3-positive T c...	ORPHA:760
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Small nail, Absent eyelashes, Absent eyebrow, Cryptorchidism, Alopecia	ORPHA:166035
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L...	OMIM:615615
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Fanconi Anemia, Complementation Group R	Radial dysplasia, Anemia, Hydrocephalus, Pelvic kidney, Bone marrow hypocellularity	OMIM:617244
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatomegaly, ...	OMIM:614921
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Nail dysplasia, Nail dystrophy, Alopecia	OMIM:226600
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Abnormal bone ossification, Loss of truncal subcutaneous adipose tissue, Hirsutism, L...	ORPHA:2463
Aicardi-Goutières Syndrome	Lipoatrophy, Irritability, Difficulty walking, Elevated circulating hepatic transaminase concentr...	ORPHA:51
Primary Ciliary Dyskinesia	Situs inversus totalis, Transposition of the great arteries, Hydrocephalus, Abnormal atrial arran...	ORPHA:244
Proteus-Like Syndrome	Hyperostosis, Hydrocephalus, Communicating hydrocephalus, Shagreen patch, Splenomegaly, Thymus hy...	ORPHA:2969
Familial Atrial Myxoma	Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Pulmonic valve myxoma, Cardiomegaly	ORPHA:615
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Lymphadenopathy	OMIM:617772
Mogs-Cdg	Hepatomegaly, Hirsutism, Long eyelashes, Dystonia, Thrombocytopenia, Hepatosplenomegaly, Left ven...	ORPHA:79330
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Polysplen...	OMIM:620642
7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Hyperactivity, Aortic valve stenosis, Joint hypermobility, Crani...	ORPHA:96121
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Radial club hand, Hydrocephalus, Renal hypoplasia, Abnormal heart morphology	OMIM:276950
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Ventriculomegaly, Unilambdoid synostosis, Long eyelashes	OMIM:618577
Thanatophoric Dysplasia	Abnormality of the kidney, Hydrocephalus, Joint stiffness, Joint hypermobility, Ventriculomegaly,...	ORPHA:2655
Glycogen Storage Disease Ii	Urinary incontinence, Hepatomegaly, Increased circulating NT-proBNP concentration, Difficulty wal...	OMIM:232300
Neural Tube Defects, Susceptibility To	Urinary incontinence, Anencephaly, Spina bifida occulta, Lipoma, Hydrocephalus, Myelomeningocele,...	OMIM:182940
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Anorexia, Failure to thrive secondary to recurrent infections, Decreased proportion of CD3-positi...	ORPHA:169160
Hyperlysinemia	Tip-toe gait, Increased CSF lysine concentration, Argininuria, Abnormal CSF ornithine concentrati...	ORPHA:2203
Denys-Drash Syndrome	Congenital diaphragmatic hernia, Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic s...	OMIM:194080
Tenorio Syndrome	Osteopenia, Emotional lability, Hydrocephalus, Enuresis, Gait disturbance, Thick eyebrow, Joint h...	OMIM:616260
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:618052
Farber Disease	Elevated circulating hepatic transaminase concentration, Anemia, Lymphadenopathy, Arthritis, Intr...	ORPHA:333
Biemond Syndrome Type 2	Hydrocephalus, Obesity, Hypospadias	ORPHA:141333
Incontinentia Pigmenti	Hypoplastic fingernail, Abnormal hair morphology, Abnormality of the nail, Hyperkeratosis, Dystro...	ORPHA:464
Juvenile Polyposis Syndrome	Hypoalbuminemia, Failure to thrive, Anemia, Hypokalemia	OMIM:174900
Pearson Marrow-Pancreas Syndrome	Steatorrhea, Elevated circulating hepatic transaminase concentration, Complex organic aciduria, P...	OMIM:557000
Marden-Walker Syndrome	Renal hypoplasia/aplasia, Joint stiffness, Abnormality of the kidney, Hypospadias, Hydrocephalus,...	ORPHA:2461
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Adrenoleukodystrophy	Alopecia	OMIM:300100
Cardiofaciocutaneous Syndrome 1	Osteopenia, Tongue thrusting, Slow-growing hair, Hyperextensibility of the finger joints, Absent ...	OMIM:115150
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus, Sparse scalp hair, Hypertrophic cardiomyopathy, Low posterior hairline, Pulmonic s...	ORPHA:2701
Pmm2-Cdg	Elevated circulating hepatic transaminase concentration, Reduced thyroxin-binding globulin, Peric...	ORPHA:79318
Meckel Syndrome, Type 4	Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Renal cyst, Bi...	OMIM:611134
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Nail dystrophy, Hypoparathyroidism, Cholelithiasis, Alopecia universalis, Alopecia	OMIM:240300
Mucopolysaccharidosis, Type Iiid	Coarse hair, Agitation, Hepatomegaly, Difficulty walking, Facial hirsutism, Inguinal hernia, Hype...	OMIM:252940
Intellectual Developmental Disorder, Autosomal Dominant 65	Compulsive behaviors, Low posterior hairline, Synophrys, Ataxia, Thin eyebrow, Sparse hair, Atten...	OMIM:619320
Desmosterolosis	Osteopetrosis, Renal hypoplasia/aplasia, Increased bone mineral density, Hydrocephalus, Renal age...	ORPHA:35107
Neurodegeneration And Seizures Due To Copper Transport Defect	Decreased CSF copper concentration, Glandular hypospadias, Increased CSF lactate, Abnormal circul...	OMIM:620306
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Elevated c...	OMIM:617713
Lujo Hemorrhagic Fever	Myocarditis, Stiff neck, Elevated circulating hepatic transaminase concentration, Elevated circul...	ORPHA:319213
Aromatic L-Amino Acid Decarboxylase Deficiency	Irritability, Torticollis, Oculogyric crisis, Tongue thrusting, Emotional lability, Decreased CSF...	OMIM:608643
Pseudomyxoma Peritonei	Hernia, Lymphadenopathy, Weight loss, Abnormal peritoneum morphology	ORPHA:26790
Familial Mediterranean Fever	Hepatomegaly, Elevated circulating C-reactive protein concentration, Arthritis, Leukocytosis, Nep...	OMIM:249100
Edinburgh Malformation Syndrome	Hydrocephalus, Hirsutism, Low posterior hairline, Synophrys, Joint stiffness, Failure to thrive, ...	ORPHA:1895
Elliptocytosis 3	Pyropoikilocytosis, Chronic hemolytic anemia, Intermittent jaundice, Elliptocytosis, Decreased me...	OMIM:617948
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Congenital diaphragmatic hernia, Bicuspid aortic valve, Osteopenia, Inguinal hernia, Joint hyperm...	OMIM:245600
Khan-Khan-Katsanis Syndrome	Trichiasis, Ureteral duplication, Anemia, Highly arched eyebrow, Patent foramen ovale, Vesicouret...	OMIM:618460
Intellectual Developmental Disorder, Autosomal Recessive 68	Small for gestational age, Broad eyebrow, Hydrocephalus, Synophrys	OMIM:618302
X-Linked Agammaglobulinemia	Alopecia	ORPHA:47
Joubert Syndrome 14	Irritability, Encephalocele, Meningocele, Highly arched eyebrow, Hydrocephalus, Dandy-Walker malf...	OMIM:614424
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Atrial septal defect, Transposition of the great arteries, Encephalocele, Hydrocephalus, Elevated...	OMIM:253800
Ataxia-Telangiectasia	Progressive cerebellar ataxia, Inability to walk, Abnormal hair morphology, Dysdiadochokinesis, T...	OMIM:208900
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Osteomyelitis, Splen...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Osteomyelitis, Splen...	OMIM:233710
Craniotelencephalic Dysplasia	Hydrocephalus, Craniosynostosis, Frontal encephalocele	ORPHA:1528
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Cholestasis, Leukocytos...	ORPHA:293173
Oculocerebrocutaneous Syndrome	Abnormal fingernail morphology, Cryptorchidism, Alopecia	ORPHA:1647
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Inability to walk, Inguinal hernia, Highly arched eyebrow, Gait disturbance, Arthro...	OMIM:618143
Staphylococcal Necrotizing Pneumonia	Elevated circulating C-reactive protein concentration, Confusion, Leukocytosis, Neutrophilia, Leu...	ORPHA:36238
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus, Omphalocele	OMIM:258320
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hyperhomocystinemia, Homocystinuria, Hydrocephalus, Cystathioninemia, Cognitive impairment, Gait ...	ORPHA:395
Dandy-Walker Malformation With Postaxial Polydactyly	Hydrocephalus, Dandy-Walker malformation, Truncal ataxia, Aortic valve stenosis, Dilated fourth v...	OMIM:220220
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosi...	OMIM:620233
22Q11.2 Deletion Syndrome	Multiple suture craniosynostosis, Multiple renal cysts, Splenomegaly, Umbilical hernia, Joint hyp...	ORPHA:567
Czeizel-Losonci Syndrome	Dextrocardia, Congenital megaureter, Spina bifida occulta, Hydrocephalus, Hypoplastic nipples, Ap...	ORPHA:2437
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus, Scarring, Abnormal mast cell morphology	ORPHA:398189
Mandibuloacral Dysplasia	Hypoplastic fingernail, Sparse hair, Alopecia	ORPHA:2457
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Tip-toe gait, Limited elbow movement, Limited knee flexion/extension, Inability to walk, Pollakis...	ORPHA:268
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida, Omphalocele	ORPHA:945
Holoprosencephaly	Congenital diaphragmatic hernia, Hypoplasia of penis, Highly arched eyebrow, Cognitive impairment...	ORPHA:2162
Dyskeratosis Congenita, Digenic	Sparse eyelashes, Nail dystrophy, Decreased testicular size, Alopecia	OMIM:620040
Combined Immunodeficiency Due To Crac Channel Dysfunction	Amelogenesis imperfecta, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hypocalci...	ORPHA:169090
Pgm3-Cdg	Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie...	ORPHA:443811
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Osteomyelitis, Splen...	OMIM:233690
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Abnormality of the gallbladder, Hypospadias, Hydrocephalus, Abno...	ORPHA:2075
Immunodeficiency 31C	Autoimmune hemolytic anemia, Osteopenia, Hepatomegaly, Impaired lymphocyte transformation with ph...	OMIM:614162
American Trypanosomiasis	Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly	ORPHA:3386
Aicardi-Goutieres Syndrome 7	Irritability, Increased circulating ferritin concentration, Hepatomegaly, Anemia, Pancytopenia, A...	OMIM:615846
Chromosome 15Q25 Deletion Syndrome	Congenital diaphragmatic hernia, Dextrocardia, Macrocytic anemia, Inguinal hernia, Coronary arter...	OMIM:614294
Short Syndrome	Sparse hair, Alopecia	ORPHA:3163
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia	ORPHA:412057
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis	OMIM:613091
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pancreatitis, Inability to walk, Splenic cyst, Highly arched eyebrow, Tracheomalacia, Patent fora...	OMIM:620371
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Sparse hair, Brittle hair	OMIM:608612
Craniofacial Dyssynostosis With Short Stature	Hypospadias, Hydrocephalus, Ventriculomegaly, Ventricular septal defect, Horseshoe kidney	OMIM:218350
Encephalocraniocutaneous Lipomatosis	Lipoma, Hydrocephalus, Pelvic kidney, Dandy-Walker malformation, Hydronephrosis, Multiple central...	OMIM:613001
Cockayne Syndrome A	Ataxia, Splenomegaly, Sparse hair, Ventriculomegaly, Tremor, Failure to thrive, Ivory epiphyses o...	OMIM:216400
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Joint hypermobility, Gait disturbance, Hydrocephalus, Umbilical hernia	ORPHA:2181
Macs Syndrome	Sparse eyebrow, Cryptorchidism, Sparse hair, Alopecia	OMIM:613075
Fanconi Anemia	Reduced bone mineral density, Renal hypoplasia/aplasia, Abnormal renal morphology, Leukopenia, Um...	ORPHA:84
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Irritability, Hyperactivity, Synophrys, Motor stereotypy, Lymphopenia, Aggressive behavior	ORPHA:391307
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Anemia, Unilateral renal agenesis, Inguinal hernia, Pancytopenia, Tracheomalacia, Vesicoureteral ...	OMIM:620654
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Anencephaly, Inguinal hernia, Periportal fibrosis, Hydrocephalus, Patent foramen ov...	OMIM:269860
Fucosidosis	Lipoatrophy, Abnormality of the gallbladder, Hepatomegaly, Mucopolysacchariduria, Failure to thri...	ORPHA:349
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Alopecia	ORPHA:93160
Dyskeratosis Congenita, Autosomal Dominant 3	Premature graying of hair, Nail dysplasia, Nail dystrophy, Fine hair, Cryptorchidism, Alopecia	OMIM:613990
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Hydrocephalus, Cardiomyopathy, Elevated circulating creatine kinase conc...	ORPHA:370959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Glutaryl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Dementia, Subependymal nodules, Tremor, Athetosis, Limb dystonia, Cognitive im...	ORPHA:25
Dyskeratosis Congenita	Premature graying of hair, Nail dystrophy, Neoplasm of the pancreas, Aplastic/hypoplastic toenail...	ORPHA:1775
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Joint hypermobility, Renal tubular acidosis, Head-banging, Hydrocephalus, Dilated third ventricle...	OMIM:619575
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Nail dystrophy, Absent eyelashes, Patchy alopecia, Sparse eyelashes, Sparse body hair, Anonychia,...	OMIM:106260
Trisomy 1Q	Congenital diaphragmatic hernia, Congenital megaureter, Hydrocephalus, Omphalocele, Camptodactyly...	ORPHA:261344
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Nail dystrophy, Abnormal hair morphology	ORPHA:90154
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Atrial septal defect, Anemia, Elevated circulating hepatic transaminase concentration, Accessory ...	OMIM:620005
Mandibuloacral Dysplasia With Type A Lipodystrophy	Absent eyelashes, Abnormal eyebrow morphology, Breast aplasia, Alopecia	ORPHA:90153
Hennekam Syndrome	Ectopic kidney, Lymphadenopathy, Hypocalcemia, Pericardial effusion, Camptodactyly of finger, Lym...	ORPHA:2136
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Difficulty walking, Inability to walk, Elevated circulating creatine kinase concent...	ORPHA:365
Tuberous Sclerosis Complex	Cardiac rhabdomyoma, Hyperactivity, Subependymal nodules, Impulsivity, Noncommunicating hydroceph...	ORPHA:805
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Peric...	ORPHA:79126
Arachnoid Cyst	Irritability, Urinary incontinence, Inability to walk, Encephalocele, Memory impairment, Depressi...	ORPHA:2356
Johanson-Blizzard Syndrome	Abnormal hair pattern, Alopecia	ORPHA:2315
Gapo Syndrome	Sparse eyelashes, Sparse eyebrow, Early balding, Alopecia	ORPHA:2067
Rothmund-Thomson Syndrome, Type 2	Premature graying of hair, Nail dystrophy, Annular pancreas, Absent eyelashes, Sparse scalp hair,...	OMIM:268400
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus	OMIM:615599
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Arthritis, Leukocytosis, ...	ORPHA:32960
Legius Syndrome	Xanthelasma, Hyperactivity, Acute monocytic leukemia, Nephrolithiasis, Short attention span, Cogn...	ORPHA:137605
Kaposi Sarcoma	Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen, Weight loss	ORPHA:33276
Williams Syndrome	Abnormal circulating lipid concentration, Hypoplasia of penis, Pulmonic stenosis, Joint stiffness...	ORPHA:904
Hereditary Cryohydrocytosis With Reduced Stomatin	Jaundice, Spontaneous hemolytic crises, Communicating hydrocephalus, Hepatosplenomegaly, Ataxia, ...	ORPHA:168577
Chromosome 6Pter-P24 Deletion Syndrome	Frontal upsweep of hair, Hydrocephalus, Dandy-Walker malformation, Patent foramen ovale, Tetralog...	OMIM:612582
Alpha-Mannosidosis, Infantile Form	Osteopenia, Cranial hyperostosis, Pancytopenia, Depression, Highly arched eyebrow, Confusion, Rec...	ORPHA:309282
Chromosome 6Q24-Q25 Deletion Syndrome	Atrial septal defect, Medial flaring of the eyebrow, Dysplastic pulmonary valve, Hydrocephalus, S...	OMIM:612863
Psoriasis 14, Pustular	Nail dystrophy, Cholangitis, Elevated circulating C-reactive protein concentration, Leukocytosis,...	OMIM:614204
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Polyuria, Hypokalemia, Renal potassium wasting, Hyperactivity, Nephrocalcinosis, Hypomagnesemia, ...	OMIM:618314
Temple Syndrome	Small for gestational age, Obesity, Polyphagia, Hydrocephalus	ORPHA:254516
Tetrasomy 15Q26	Hydrocephalus, Dandy-Walker malformation, Camptodactyly, Hydronephrosis, Atrial septal defect, Ho...	OMIM:614846
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Hydrocephalus, Occipital encephalocele, Ventriculomegaly	ORPHA:324416
Otopalatodigital Syndrome Type 2	Tarsal synostosis, Hypospadias, Encephalocele, Increased bone mineral density, Abnormal heart val...	ORPHA:90652
Cryptococcosis	Cirrhosis, Mediastinal lymphadenopathy, Memory impairment, Hydrocephalus, Osteomyelitis, Peritoni...	ORPHA:1546
Hyper-Igd Syndrome	Lymphadenopathy, Arthritis, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Spleno...	OMIM:260920
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus, Craniosynostosis	OMIM:612247
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Steppage gait, Inability to walk, Abnormal atrioventricular valve morphology, Aortic valve stenos...	ORPHA:324410
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Hepatomegaly, Decreased proportion of CD8-positive T cells, Inability to ...	ORPHA:508533
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Recurrent urinary tract infections, Decreased proportion of naive T cells, T lym...	ORPHA:83471
Gapo Syndrome	Nail dysplasia, Breast hypoplasia, Hypoplastic nipples, Sparse eyelashes, Sparse eyebrow, Sparse ...	OMIM:230740
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Hypospadias, Hypocalcemia, Hyperbilirubinemia, Hyperextensibility of the finger joints, H...	ORPHA:163979
Holocarboxylase Synthetase Deficiency	Alopecia	OMIM:253270
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Depression, Arthritis, Leukocytosis, Nephrotic syndrome, Pericardi...	ORPHA:342
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Splenomegaly, Lymphopen...	ORPHA:1572
Cockayne Syndrome B	Normal pressure hydrocephalus, Hepatomegaly, Severe failure to thrive, Renal insufficiency, Abnor...	OMIM:133540
Desmosterolosis	Elevated circulating desmosterol concentration, Hydrocephalus, Abnormal circulating cholesterol c...	OMIM:602398
Lateral Meningocele Syndrome	Inguinal hernia, Meningocele, Hydrocephalus, Neurogenic bladder, Sclerosis of skull base, Umbilic...	OMIM:130720
Cushing Syndrome Due To Ectopic Acth Secretion	Increased body weight, Lymphopenia, Increased circulating cortisol level, Anorexia, Memory impair...	ORPHA:99889
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy, Juvenile rheumatoid arthritis, Tubulointerstitial fibrosis, T lymphocytopenia, R...	OMIM:607944
Cantú Syndrome	Curly eyelashes, Abnormal heart valve morphology, Low posterior hairline, Long eyelashes, Hypertr...	ORPHA:1517
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Ventriculomegaly	OMIM:617967
Fusariosis	Lung abscess, Abnormality of the kidney, Panniculitis, Arthritis, Brain abscess, Granuloma, Abnor...	ORPHA:228119
Vici Syndrome	Atrial septal defect, Hypopigmentation of hair, Cardiomyopathy, Elevated circulating creatine kin...	OMIM:242840
Frontonasal Dysplasia 2	Bilateral cryptorchidism, Sparse eyelashes, Sparse eyebrow, Sparse hair, Alopecia totalis, Fine hair	OMIM:613451
X-Linked Dominant Chondrodysplasia Punctata	Scarring alopecia of scalp, Abnormality of the nail, Patchy alopecia, Sparse eyelashes, Sparse ey...	ORPHA:35173
Meckel Syndrome, Type 1	Occipital encephalocele, Anencephaly, Accessory spleen, Hydrocephalus, Polycystic kidney dysplasi...	OMIM:249000
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Nail dystrophy, Decreased response to growth hormone stimulation test, Abnormality of the periung...	ORPHA:293978
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Granuloma, Osteomyel...	OMIM:306400
Crimean-Congo Hemorrhagic Fever	Leukopenia, Splenomegaly, Cholecystitis, Myocarditis, Anorexia, Agitation, Jaundice, Stiff neck, ...	ORPHA:99827
1Q21.1 Microdeletion Syndrome	Inguinal hernia, Depression, Hydrocephalus, Vesicoureteral reflux, Failure to thrive, Hydronephro...	ORPHA:250989
Sandhoff Disease, Infantile Form	Mitral valve prolapse, Hepatosplenomegaly, Exaggerated startle response	ORPHA:309155
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Lymphadenopathy, Arthritis, Limitation of joint mobility, Ataxia, Peritonitis	ORPHA:343
Familial Pancreatic Carcinoma	Anorexia, Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Per...	ORPHA:1333
Dubowitz Syndrome	Anemia, Hypospadias, Joint hypermobility, Spina bifida occulta, Hydrocephalus, Sparse scalp hair,...	ORPHA:235
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Hypoproteinemia, Lymphopenia	OMIM:207731
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Bicuspid aortic valve, Hydrocephalus	ORPHA:397951
Cryptogenic Organizing Pneumonia	Anorexia, Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia, Weig...	ORPHA:1302
Cole-Carpenter Syndrome 1	Osteopenia, Reduced bone mineral density, Hydrocephalus, Communicating hydrocephalus, Coronal cra...	OMIM:112240
Hajdu-Cheney Syndrome	Osteopenia, Osteolytic defects of the phalanges of the hand, Hypospadias, Inguinal hernia, Pathol...	OMIM:102500
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy, Hypopigmentation of hair, Abnormal eyebrow morphology, Generalized hirsutism, We...	ORPHA:2221
Timothy Syndrome	Hypocalcemia, Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect	OMIM:601005
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Nail dystrophy, Decreased glomerular filtration rate, Sparse scalp hair, Focal segmental glomerul...	OMIM:614748
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Limb ataxia, Abnormal temper tantrums, Anemia, Cholelithiasis, Pancytopenia, Hydrocephalus, Bacte...	ORPHA:2072
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Highly arched eyebrow, Hydrocephalus, Delayed ossification of carpal bones, Athetosis, Abnormal r...	OMIM:239300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus, Elevated circulating creatine kinase concentration	OMIM:615181
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Small for gestational age, Delayed epiphyseal ossification	OMIM:613320
Mosaic Variegated Aneuploidy Syndrome 1	Hypospadias, Multicystic kidney dysplasia, Hydrocephalus, Dandy-Walker malformation, Renal cyst, ...	OMIM:257300
Lethal Congenital Contracture Syndrome 10	Stiff neck, Torticollis, Hypoplasia of the thymus, Omphalocele, Cardiomegaly, Overriding aorta, V...	OMIM:617022
Pseudotrisomy 13 Syndrome	Tricuspid atresia, Dextrocardia, Encephalocele, Hydrocephalus, Omphalocele, Renal agenesis, Renal...	OMIM:264480
Vitamin K Antagonist Embryofetopathy	Hydrocephalus, Myelomeningocele, Epiphyseal stippling	ORPHA:1914
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus, Urinary incontinence, Gait disturbance, Dementia	OMIM:236690
Congenital Myopathy 22A, Classic	Normal pressure hydrocephalus, Waddling gait, Congenital finger flexion contractures, Synophrys, ...	OMIM:620351
Medulloblastoma	Irritability, Elevated circulating hepatic transaminase concentration, Progressive cerebellar ata...	ORPHA:616
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Alexander Disease	Osteopenia, Aqueductal stenosis, Depression, Emotional lability, Hydrocephalus, Tremor, Gait dist...	ORPHA:58
Nephroblastoma	Hematuria, Lymphadenopathy, Weight loss, Nephroblastoma, Neoplasm of the liver	ORPHA:654
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Cervical myelopathy, Inguinal hernia, Hydrocephalus, Hirsutism, Cardiomyopathy, Der...	OMIM:253200
1Q44 Microdeletion Syndrome	Hydrocephalus, Vesicoureteral reflux, Synophrys, Ventriculomegaly, Horseshoe kidney, Abnormal car...	ORPHA:238769
Chiari Malformation Type Ii	Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Opisthotonus, Dysphagia, Ataxia	OMIM:207950
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Pulmonic stenosis, Abnormal heart morphology, Decreased circulating iron concentration, Dysphagia...	ORPHA:438213
Neurooculocardiogenitourinary Syndrome	Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:618652
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Hydrocephalus, Occipital encephalocele	ORPHA:352682
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Anemia, Lymphadenopathy, Hip osteoarthritis, Knee osteoarthritis, Arthritis, Synovitis, Joint sti...	ORPHA:85408
Fanconi Anemia, Complementation Group B	Aplastic anemia, Hydrocephalus, Renal agenesis, Thrombocytopenia, Ventriculomegaly, Ventricular s...	OMIM:300514
Pallister-Hall-Like Syndrome	Hydrocephalus, Occipital encephalocele, Renal dysplasia, Micropenis	OMIM:241800
Distal Deletion 19P	Thick eyebrow, Alopecia	ORPHA:96129
Bohring-Opitz Syndrome	Annular pancreas, Severe failure to thrive, Fixed elbow flexion, Inability to walk, Cholelithiasi...	ORPHA:97297
Meckel Syndrome, Type 6	Occipital encephalocele, Anencephaly, Hydrocephalus, Aplasia of the bladder, Renal cyst, Bile duc...	OMIM:612284
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Ventricu...	OMIM:243150
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy...	OMIM:102700
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Parakeratosis, Small nail, Hyperkeratosis, Thyroid hypoplasia, Orthokeratosis, Alopecia	OMIM:308050
Gm1 Gangliosidosis Type 1	Increased urinary galactosylated oligosaccharide, Hirsutism, Cardiomyopathy, Exaggerated startle ...	ORPHA:79255
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Premature graying of hair, Osteopenia, Nail dystrophy, Anemia, Portal hypertension, Thrombocytope...	OMIM:620365
Bronchial Neuroendocrine Tumor	Anorexia, Hepatomegaly, Chronic noninfectious lymphadenopathy, Hepatic failure, Weight loss, Abno...	ORPHA:97287
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia	OMIM:163200
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Oligosacchariduria	ORPHA:3137
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Low posterior hairline, Alopecia	ORPHA:2959
Joubert Syndrome With Renal Defect	Encephalocele, Highly arched eyebrow, Hydrocephalus, Tremor, Nephropathy, Gait disturbance, Ataxi...	ORPHA:220497
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Azotemia, Hydrocephalus, Leukocytosis, Renal hypoplasia, Flexion contracture, Micropenis, Abdomin...	OMIM:619321
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Nephrocalcinosis, Hypophosphatemic rickets, Right atrial enlargement	OMIM:614473
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Tetralogy of Fall...	ORPHA:1908
Hallermann-Streiff Syndrome	Abnormality of hair texture, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Cry...	ORPHA:2108
Behçet Disease	Anorexia, Irritability, Glomerulopathy, Pancreatitis, Lymphadenopathy, Memory impairment, Arthrit...	ORPHA:117
Ventriculomegaly With Defects Of The Radius And Kidney	Ureteral duplication, Ectopic kidney, Hydrocephalus, Renal agenesis, Lateral ventricle dilatation...	OMIM:602200
Leukodystrophy, Hypomyelinating, 13	Irritability, Exaggerated startle response, Failure to thrive, Joint contracture, Ataxia	OMIM:616881
Limb-Mammary Syndrome	Nail dysplasia, Aplasia of the ovary, Breast aplasia, Hypoplastic nipples, Absent nipple, Bilater...	ORPHA:69085
Down Syndrome	Atrioventricular canal defect, Renal hypoplasia/aplasia, Leukemia, Abnormality of the lymphatic s...	ORPHA:870
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Irritability, Inability to walk, Short attention span, Exaggerated startle response, Failure to t...	OMIM:617864
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Macronodular adrenal hyperplasia, Hirsutism, Primary hyperparathyroidism, Pituitary adenoma, Alop...	ORPHA:189427
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Attention deficit hyperactivity disorder, Exaggerated startle response	OMIM:617028
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Dysphagia	ORPHA:163961
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular septal hypertrophy, Hepatomegaly, Muscular ventricular septal defect, Ventricular hyp...	OMIM:115197
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Patent foramen ovale, Tremor, Exaggerated startle response, Hydronephrosis, Limb joint contractur...	OMIM:620327
Lissencephaly 5	Hydrocephalus, Occipital encephalocele	OMIM:615191
Disabling Pansclerotic Morphea Of Childhood	Joint contracture, Neutropenia, Elevated circulating C-reactive protein concentration, Lymphopenia	OMIM:620443
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Pontocerebellar Hypoplasia, Type 7	Hydrocephalus, Hirsutism, Synophrys, Opisthotonus, Ataxia, Ventriculomegaly, Choreoathetosis, Mic...	OMIM:614969
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Patchy alopecia, Sparse hair	OMIM:617763
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating alanine am...	ORPHA:308552
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lipoatrophy, Generalized lipodystrophy, Hydrocephalus, Hyperextensibility of the finger joints, L...	OMIM:616914
Selective Igm Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:331235
Intellectual Developmental Disorder, Autosomal Dominant 70	Highly arched eyebrow, Hyponatremia, Failure to thrive, Hydrocephalus	OMIM:620157
Osteogenesis Imperfecta	Reduced bone mineral density, Decreased skull ossification, Ataxia, Dentinogenesis imperfecta, Mi...	ORPHA:666
Pseudoaminopterin Syndrome	Limited elbow movement, Inguinal hernia, Highly arched eyebrow, Hydrocephalus, Patent foramen ova...	ORPHA:221120
Monosomy 18Q	Pulmonary valve defects, Dysplastic pulmonary valve, Hydrocephalus, Absence of the pulmonary valv...	ORPHA:1600
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased ...	OMIM:617718
African Trypanosomiasis	Urinary incontinence, Pericarditis, Splenomegaly, Ventriculomegaly, Aggressive behavior, Myocardi...	ORPHA:3385
Nestor-Guillermo Progeria Syndrome	Nail dystrophy, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Alopecia	OMIM:614008
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Reduced bone mineral density, Anemia, Inguinal hernia, White hair, Cognitive impairment, Lymphope...	ORPHA:935
47,Xyy Syndrome	Hypospadias, Hyperactivity, Hydrocephalus, Impulsivity, Attention deficit hyperactivity disorder,...	ORPHA:8
Glycine Encephalopathy With Normal Serum Glycine	Elbow flexion contracture, Exaggerated startle response, Long eyelashes, Hip contracture, Flexion...	OMIM:617301
Japanese Encephalitis	Pill-rolling tremor, Anorexia, Stiff neck, CSF lymphocytic pleiocytosis, Tremor, Elbow flexion co...	ORPHA:79139
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Polycystic ovaries, Testicular adrenal rest tumor, Hirsutism, Alopecia	ORPHA:90795
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Abnormal fear-induced behavior, Exaggerated startle response, Cognitive i...	ORPHA:309246
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, T lymphocytopenia, Failure to thrive, Hepatosplenomegaly, Lymphopenia, Abn...	OMIM:242700
Lymphangioleiomyomatosis	Renal neoplasm, Hematuria, Lymphadenopathy, Chylopericardium, Hydrocephalus, Abnormality of the l...	ORPHA:538
Primary Sjögren Syndrome	Abnormality of the kidney, Normocytic anemia, Lymphadenopathy, Normochromic anemia, Dementia, Dep...	ORPHA:289390
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Failure to thrive in infancy, Decreased proportion of CD4-positive helper T ce...	OMIM:619510
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Hirsutism, T lymphocytopenia, Umbilic...	OMIM:617237
Ectodermal Dysplasia-Skin Fragility Syndrome	Nail dystrophy, Sparse hair, Palmoplantar keratoderma, Alopecia universalis, Follicular hyperkera...	ORPHA:158668
Meckel Syndrome	Situs inversus totalis, Ureteral duplication, Anencephaly, Encephalocele, Accessory spleen, Hydro...	ORPHA:564
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Joubert Syndrome	Situs inversus totalis, Encephalocele, Highly arched eyebrow, Hydrocephalus, Tremor, Gait disturb...	ORPHA:475
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Alopecia totalis, Cholelithiasis	OMIM:618775
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Dandy-Walker malformation, Camptodactyly, Pericardial effusion, Ventriculomegaly, ...	OMIM:617822
Neurooculorenal Syndrome	Aqueductal stenosis, Unilateral renal agenesis, Dextrocardia, Tetralogy of Fallot with pulmonary ...	OMIM:620305
Icf Syndrome	Anemia, Lymphopenia, Communicating hydrocephalus, Umbilical hernia, Abnormality of neutrophils	ORPHA:2268
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia	OMIM:210210
Joubert Syndrome With Ocular Defect	Dextrocardia, Encephalocele, Highly arched eyebrow, Hydrocephalus, Tremor, Gait disturbance, Ataxia	ORPHA:220493
Cardiofaciocutaneous Syndrome	Atrial septal defect, Dystrophic fingernails, Sparse or absent eyelashes, Brittle hair, Slow-grow...	ORPHA:1340
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Osteopenia, B lymphocytopenia, Neutropenia in presence of anti-neutr...	ORPHA:391487
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Cartilage-Hair Hypoplasia	Limited elbow extension, Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Macr...	OMIM:250250
Neurodegeneration With Brain Iron Accumulation 1	Obsessive-compulsive trait, Bradykinesia, Urinary incontinence, Akinesia, Depression, Hyperactivi...	OMIM:234200
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Knee flexion contracture, Ventriculomegaly, Atrial septal defect, Ventricular sept...	OMIM:603387
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Prolonged neonatal jaundice, Colpocephaly, Sparse hair, Lateral ventricle dilatation, Fine hair, ...	OMIM:210710
Cole-Carpenter Syndrome 2	Osteopenia, Lambdoidal craniosynostosis, Hydrocephalus, Coronal craniosynostosis, Dentinogenesis ...	OMIM:616294
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Dandy-Walker malformation, Elevated circulating hepatic transaminase concentration...	OMIM:310400
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Inguinal hernia, Hydrocephalus, Failure to thrive, Joint hypermobility	OMIM:612940
Neuroendocrine Tumor Of The Colon	Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfec...	ORPHA:100080
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Hydrocephalus, Dandy-Walker malformation, Exaggerated startle response, Long eyela...	OMIM:617281
Opitz-Kaveggia Syndrome	Hypospadias, Inguinal hernia, Multiple joint contractures, Hydrocephalus, Camptodactyly, Abnormal...	OMIM:305450
Koolen-De Vries Syndrome Due To A Point Mutation	Cardiomyopathy, Pulmonic stenosis, Abnormal heart morphology, Bicuspid aortic valve, Joint hyperm...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Cardiomyopathy, Pulmonic stenosis, Abnormal heart morphology, Bicuspid aortic valve, Joint hyperm...	ORPHA:363958
Neuroendocrine Tumor Of Stomach	Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Iron deficiency ...	ORPHA:100075
Melanosis, Neurocutaneous	Hydrocephalus, Dandy-Walker malformation, Choroid plexus papilloma, Mental deterioration	OMIM:249400
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Aqueductal stenosis, High anterior hairline, Hyperactivity, Hydrocephalus, Compulsive behaviors, ...	OMIM:619512
Rothmund-Thomson Syndrome	Nail dysplasia, Small nail, Abnormality of the nail, Sparse eyelashes, Sparse eyebrow, Sparse hai...	ORPHA:2909
Wiedemann-Rautenstrauch Syndrome	Lipoatrophy, Hypertriglyceridemia, Action tremor, Pulmonic stenosis, Congenital malformation of t...	ORPHA:3455
Amelocerebrohypohidrotic Syndrome	Amelogenesis imperfecta, Hydrocephalus, Abnormal dental enamel morphology, Dementia, Mental deter...	ORPHA:1946
Vitamin D-Dependent Rickets, Type 2A	Secondary hyperparathyroidism, Alopecia universalis	OMIM:277440
Jacobsen Syndrome	Annular pancreas, Hypospadias, Hydrocephalus, Abnormal eyelash morphology, Failure to thrive, Thr...	OMIM:147791
Immunodeficiency 32A	Granuloma, Lymphadenitis, Lymphadenopathy	OMIM:614893
Stiff-Person Syndrome	Depression, Opisthotonus, Anemia, Exaggerated startle response	OMIM:184850
Immunodeficiency 23	Joint hypermobility, Failure to thrive, Ataxia, Lymphopenia, Membranoproliferative glomerulonephr...	OMIM:615816
L1 Syndrome	Depression, Aqueductal stenosis, Gait disturbance, Hydrocephalus	ORPHA:275543
Crouzon Syndrome	Hydrocephalus, Multiple suture craniosynostosis	ORPHA:207
Biotinidase Deficiency	Alopecia	OMIM:253260
Lymphatic Filariasis	Abnormality of the kidney, Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Kn...	ORPHA:2035
Kabuki Syndrome	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Hypospadias, Duplicated collecting sys...	ORPHA:2322
Systemic Lupus Erythematosus	Anorexia, Hematuria, Lymphadenopathy, Pyuria, Depression, Alopecia, Arthritis, Leukopenia, Protei...	ORPHA:536
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Inguinal hernia, Hypoplasia of penis, Hydrocephalus, Abnormal dental enamel morphology, Gait dist...	ORPHA:1812
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Hydrocephalus, Dandy-Walker malformation, Dilated third ventricle, Elevated circulating creatine ...	OMIM:613154
Trisomy 8P	Annular pancreas, Abnormal left ventricle morphology, Multiple joint contractures, Hydrocephalus,...	ORPHA:264450
Carcinoid Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Hepatic necrosis, Elevated circula...	ORPHA:100093
Ileal Neuroendocrine Tumor	Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Lymphadenopathy,...	ORPHA:100078
Autosomal Dominant Hypocalcemia	Abnormality of the nail, Abnormal fingernail morphology, Alopecia	ORPHA:428
Sweet Syndrome	Anemia, Acute myeloid leukemia, Panniculitis, Chronic lymphatic leukemia, Sterile abscess, Elevat...	ORPHA:3243
Pelvis-Shoulder Dysplasia	Facial hirsutism, Hydranencephaly, Hydrocephalus, Waddling gait, Spina bifida, Camptodactyly of f...	ORPHA:2839
Fixed Subaortic Stenosis	Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ...	ORPHA:3092
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Weight loss, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Anemia, Panniculitis, B lymphocytopenia, Noncompaction cardiomyopathy, Reticulocytopenia, Bone ma...	ORPHA:508542
Porphyria, Congenital Erythropoietic	Loss of eyelashes, Cholelithiasis, Absent eyebrow, Hypertrichosis, Alopecia	OMIM:263700
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hydrocephalus, Dandy-Walker malformation, Hypertrophic cardiomyopathy, Failure to thrive, Umbilic...	OMIM:612938
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Failure to thri...	ORPHA:1329
Ventriculomegaly With Cystic Kidney Disease	Tubular luminal dilatation, Hydrocephalus, Hyperechogenic kidneys, Ventriculomegaly, Ventricular ...	OMIM:219730
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Lambdoidal craniosynostosis, Hydrocephalus, Abnormal renal morphology, Camptodactyly, Coronal cra...	OMIM:207410
Leukocyte Adhesion Deficiency Type Ii	Scarring, Hepatomegaly, Anemia, Broad eyebrow, Recurrent urinary tract infections, Leukocytosis, ...	ORPHA:99843
Danon Disease	Myocardial necrosis, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopa...	OMIM:300257
Fanconi Anemia, Complementation Group L	Anemia, Unilateral renal agenesis, Hydrocephalus, Renal hypoplasia, Bone marrow hypocellularity, ...	OMIM:614083
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Polycystic kidney dysplasia, Choroid plexus cyst, Decreased calvarial ossification...	OMIM:617866
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Ventriculomegaly	OMIM:304100
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Normal pressure hydrocephalus, Torticollis, Inability to walk, Emotional lability, Short attentio...	ORPHA:300570
Thanatophoric Dysplasia Type 1	Abnormality of the kidney, Hydrocephalus, Joint stiffness, Ventriculomegaly, Atrial septal defect	ORPHA:1860
Muenke Syndrome	Tarsal synostosis, Hypopigmentation of hair, Hydrocephalus, Coronal craniosynostosis, Carpal syno...	ORPHA:53271
Primary Hepatic Neuroendocrine Carcinoma	Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract ob...	ORPHA:100085
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Elevated circulating creatine kinase concentration, Flexion contracture, Hydrocephalus	OMIM:615249
Papa Syndrome	Lymphadenopathy, Limitation of joint mobility, Proteinuria, Arthritis	ORPHA:69126
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation, Ventricular septal defect, Flexion contracture	OMIM:147800
Lmna-Related Cardiocutaneous Progeria Syndrome	Premature graying of hair, Absent eyelashes, Absent eyebrow, Sparse hair, Alopecia universalis	ORPHA:363618
Spondylocostal Dysostosis 4, Autosomal Recessive	Situs inversus totalis, Dextrocardia, Spina bifida occulta, Hydrocephalus, Neurogenic bladder, My...	OMIM:613686
Neutral Lipid Storage Disease With Ichthyosis	Alopecia	ORPHA:98907
Meige Disease	Atypical scarring of skin, Absence of lymph node germinal center, Cellulitis, Lymph node hypoplasia	ORPHA:90186
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Thrombocytopenia, Communicating hydrocephalus	ORPHA:1237
Knobloch Syndrome	Occipital encephalocele, Dextrocardia, Abnormal hair morphology, Hydrocephalus, Vesicoureteral re...	ORPHA:1571
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Hydrocephalus, Hirsutism, Limitation of joint mobility, Abnormal heart morphology,...	ORPHA:1865
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Akinesia, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Joint contracture, Ventricul...	OMIM:225790
Asparagine Synthetase Deficiency	Irritability, Hypoasparaginemia, Tremor, Dilated third ventricle, Exaggerated startle response, D...	OMIM:615574
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Hirsutism, Exaggerated startle response, Cognitive impairment, Failure to thrive, Dysphagia, Vent...	OMIM:617527
Axenfeld-Rieger Syndrome, Type 2	Hypospadias, Inguinal hernia, Hydrocephalus, Abnormal heart morphology, Umbilical hernia	OMIM:601499
Raine Syndrome	Subperiosteal bone formation, Hydroureter, Highly arched eyebrow, Increased bone mineral density,...	OMIM:259775
Acrodysostosis 1 With Or Without Hormone Resistance	Unilateral renal agenesis, Epiphyseal stippling, Hydrocephalus, Calvarial hyperostosis, Neonatal ...	OMIM:101800
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Weight loss, Lymphadenopathy, Dysphagia	ORPHA:1332
Apert Syndrome	Limited elbow movement, Lambdoidal craniosynostosis, Craniosynostosis, Delayed epiphyseal ossific...	OMIM:101200
Leigh Syndrome	Frontal hirsutism, Hypertrichosis, Alopecia	ORPHA:506
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy, Weight loss	ORPHA:411703
Functioning Gonadotropic Adenoma	Abnormality of secondary sexual hair, Osteopenia, Hydrocephalus, Enlarged polycystic ovaries, Ost...	ORPHA:91348
Spondyloepimetaphyseal Dysplasia, Krakow Type	Annular pancreas, Delayed pubic bone ossification, Hydrocephalus, Knee flexion contracture, Scler...	OMIM:618162
Neuroendocrine Tumor Of The Rectum	Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfec...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfec...	ORPHA:100082
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Renal hypoplasia/aplasia, Hydrocephalus, Bone cyst, Patent foramen ovale, Abnormal renal morpholo...	ORPHA:363700
Celiac Disease, Susceptibility To, 1	Alopecia	OMIM:212750
Stiff Person Spectrum Disorder	Emotional lability, Difficulty walking, Exaggerated startle response, Falls	ORPHA:3198
Periodic Fever, Familial, Autosomal Dominant	Hepatic amyloidosis, Hepatomegaly, Cervical lymphadenopathy, Oligoarthritis	OMIM:142680
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly, Gait ataxia	OMIM:616355
Giant Cell Arteritis	Alopecia	ORPHA:397
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus, Hirsutism, Limitation of joint mobility, Camptodactyly, Advanced os...	OMIM:224400
Ebola Hemorrhagic Fever	Acute pancreatitis, Thrombocytopenia, Leukopenia, Dysphagia, Lymphopenia, Hepatitis, Lethargy	ORPHA:319218
Joubert Syndrome 2	Nephronophthisis, Encephalocele, Hydrocephalus, Renal cyst, Failure to thrive, Enlarged fossa int...	OMIM:608091
Tetrasomy 9P	Biliary atresia, Hyperactivity, Abnormal mitral valve morphology, Pericarditis, Multiple renal cy...	ORPHA:3310
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Proximal tibial and fibular fusion, Decreased circulating cortisol level, Craniosynostosis, Dilat...	ORPHA:95699
Plasminogen Deficiency, Type I	Hydrocephalus, Dandy-Walker malformation, Nephrolithiasis, Decreased level of plasminogen, Nephri...	OMIM:217090
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Renal neoplasm, Torticollis, Tracheomalacia, Hydrocephalus, Atrophic scars, Osteoporo...	ORPHA:536467
Wiedemann-Rautenstrauch Syndrome	Lipoatrophy, Hypertriglyceridemia, Dysphagia, Alopecia of scalp, Hypospadias, Hydrocephalus, Dand...	OMIM:264090
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus, Abnormal dental enamel morphology, Obesity	ORPHA:2180
Mend Syndrome	Hyperactivity, Hydrocephalus, Dandy-Walker malformation, Aortic valve stenosis, Failure to thrive...	ORPHA:401973
Joubert Syndrome With Oculorenal Defect	Encephalocele, Highly arched eyebrow, Hydrocephalus, Nephropathy, Ataxia, Renal insufficiency	ORPHA:2318
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Inguinal hernia, Hydrocephalus, Camptodactyly, Minimal subcutaneous fat, Mitral valve...	OMIM:182212
Leprosy	Loss of eyelashes, Hyperkeratosis, Absent eyebrow, Sparse body hair, Testicular mass, Alopecia	ORPHA:548
Walker-Warburg Syndrome	Hypoplasia of penis, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly, Abnormal circula...	ORPHA:899
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Hirsutism, Exaggerated startle response, Failure to thri...	ORPHA:521426
15Q Overgrowth Syndrome	Hydrocephalus, Dandy-Walker malformation, Abnormal renal morphology, Hydronephrosis, Contracture ...	ORPHA:314585
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia	OMIM:269200
Cushing Disease	Dementia, Memory impairment, Decreased eosinophil count, Depression, Emotional lability, Hirsutis...	ORPHA:96253
Linear Nevus Sebaceus Syndrome	Adenoma sebaceum, Alopecia	ORPHA:2612
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Woodhouse-Sakati Syndrome	Decreased testicular size, Fine hair, Sparse hair, Alopecia	OMIM:241080
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Premature graying of hair, Nail dystrophy, Pancytopenia, Bone marrow hypocellularity, Lymphopenia...	OMIM:619767
Reynolds Syndrome	Calcinosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Stea...	OMIM:613471
Orofaciodigital Syndrome I	Hydrocephalus, Polycystic kidney dysplasia, Myelomeningocele, Enamel hypoplasia, Abnormal heart m...	OMIM:311200
Combined Oxidative Phosphorylation Deficiency 58	Difficulty walking, Hyperalaninemia, Exaggerated startle response, Gait ataxia, Ataxia, Hyperprol...	OMIM:620451
Marshall-Smith Syndrome	Large sternal ossification centers, Brittle hair, Highly arched eyebrow, Hydrocephalus, Ventricul...	OMIM:602535
Coronary Arterial Fistula	Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st...	ORPHA:2041
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres...	OMIM:600802
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Agitation, Truncal titubation, Tremor, Exaggerated startle response, Gait ataxia, Dysmetria	OMIM:618056
Osteopathia Striata With Cranial Sclerosis	Flexion contracture of toe, Spina bifida occulta, Tracheomalacia, Hydrocephalus, Camptodactyly, O...	OMIM:300373
Bartsocas-Papas Syndrome 1	Small nail, Absent eyelashes, Sparse scalp hair, Bilateral cryptorchidism, Absent eyebrow, Anonyc...	OMIM:263650
Histiocytoid Cardiomyopathy	Hepatomegaly, Hydrocephalus, Renal cyst, Failure to thrive, Cardiomegaly, Ventricular septal defe...	ORPHA:137675
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Congenital contracture, Synophrys, Colpocephaly, Ventriculomegaly	OMIM:620156
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Breast hypoplasia, Inguinal hernia, Hydrocephalus, Limitation of...	ORPHA:1272
Biotinidase Deficiency	Alopecia	ORPHA:79241
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus, Decreased skull ossification	OMIM:300863
Atypical Werner Syndrome	Premature graying of hair, Ovarian neoplasm, Abnormal hair morphology, Abnormal hair quantity, Hy...	ORPHA:79474
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Inability to walk, Flexion contracture, Exaggerated startle response	OMIM:609541
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Joint stiffness, Aqueductal stenosis, Holoprosencephaly, Hydrocephalus	ORPHA:2182
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Knee flexion contracture, Intention tremor, Head titubation, Dystonia, Ataxia, Dysphagia, Lymphop...	OMIM:619708
Hydrolethalus Syndrome 2	Hydrocephalus, Ventriculomegaly, Anencephaly	OMIM:614120
Monosomy 9Q22.3	Large for gestational age, Hyperactivity, Hydrocephalus, Cardiac fibroma, Umbilical hernia, Joint...	ORPHA:77301
Rabin-Pappas Syndrome	Tracheomalacia, Highly arched eyebrow, Hydrocephalus, Hyponatremia, Obesity, Failure to thrive in...	OMIM:620155
Wiskott-Aldrich Syndrome	Acute leukemia, Glomerulopathy, Anemia, Hyperostosis, Abnormal eosinophil morphology, Arthritis, ...	ORPHA:906
Stromme Syndrome	Hydrocephalus, Hydronephrosis, Bilateral renal hypoplasia, Accessory spleen	OMIM:243605
Leptospirosis	Anorexia, Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Cellular urinary casts, P...	ORPHA:509
Shprintzen-Goldberg Syndrome	Osteopenia, Abnormal aortic valve morphology, Inguinal hernia, Communicating hydrocephalus, Joint...	ORPHA:2462
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent foramen ovale, Tremor, Ventricular septal defect, Impulsivity, Synostosis of the proximal ...	OMIM:300967
Mandibuloacral Dysplasia With Type A Lipodystrophy	Sparse scalp hair, Onychogryposis, Alopecia	OMIM:248370
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypospadias, Hypoplasia of penis, Hydrocephalus, Holoprosencephaly, Ventricular septal defect	ORPHA:77298
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Hydrocephalus, Right atrial enlargement, Communicating hydrocephalus, Colpocephaly, Ventriculomeg...	OMIM:615219
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Depression, Inability to walk, Exaggerated startle response	OMIM:620114
Sarcoidosis, Susceptibility To, 1	Anorexia, Hepatomegaly, Mediastinal lymphadenopathy, Pancytopenia, Hypercalciuria, Bone cyst, Art...	OMIM:181000
Anaplastic Thyroid Carcinoma	Weight loss, Lymphadenopathy, Dysphagia	ORPHA:142
Alobar Holoprosencephaly	Irritability, Neural tube defect, Inability to walk, Depression, Hydrocephalus, Limb dystonia, Fa...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Irritability, Neural tube defect, Inability to walk, Depression, Hydrocephalus, Limb dystonia, Fa...	ORPHA:93926
Lobar Holoprosencephaly	Irritability, Neural tube defect, Inability to walk, Depression, Hydrocephalus, Limb dystonia, Fa...	ORPHA:93924
Semilobar Holoprosencephaly	Irritability, Neural tube defect, Inability to walk, Depression, Hydrocephalus, Limb dystonia, Fa...	ORPHA:220386
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Joint hypermobility, Failure to thrive, Ventriculomegaly, Hydrocephalus	ORPHA:60040
Colchicine Poisoning	Alopecia	ORPHA:31824
Developmental And Epileptic Encephalopathy 68	Failure to thrive, Flexion contracture, Exaggerated startle response	OMIM:618201
Naxos Disease	Nail dystrophy, Right ventricular cardiomyopathy, Woolly hair, Curly hair, Abnormal morphology of...	OMIM:601214
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus, Hernia of the abdominal wall, Tetralogy of Fallot, Anomalous pulmona...	ORPHA:2184
Exstrophy-Epispadias Complex	Urinary incontinence, Bifid penis, Bladder fistula, Bladder duplication, Abnormal heart morpholog...	ORPHA:322
Lenz-Majewski Hyperostotic Dwarfism	Epispadias, Cranial hyperostosis, Osteopetrosis, Abnormal cortical bone morphology, Hypospadias, ...	ORPHA:2658
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Multiple joint contractures, Difficulty walking, Exaggerated startle response	ORPHA:320406
Rothmund-Thomson Syndrome Type 1	Nail dysplasia, Sparse or absent eyelashes, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Alope...	ORPHA:221008
Arterial Calcification, Generalized, Of Infancy, 1	Hypophosphatemic rickets, Renal artery stenosis, Cardiomegaly, Ankylosis, Dilated cardiomyopathy	OMIM:208000
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Inability to walk, Truncal ataxia, Partial atrioventricular canal defect, Secundum ...	OMIM:620066
Neurofibromatosis Type 1	Osteopenia, Memory impairment, Hydrocephalus, Abnormal hair quantity, Abnormality of the upper ur...	ORPHA:636
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Broad-based gait, Short attention span, Exaggerated startle response, Dystonia, Ataxia	ORPHA:438216
Dyskeratosis Congenita, X-Linked	Premature graying of hair, Nail dystrophy, Ridged nail, Decreased testicular size, Sparse eyelash...	OMIM:305000
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hypoplastic fingernail, Abnormal hair morphology, Hyperconvex fingernails, Abnormality of the nai...	ORPHA:2273
Cerebral Visual Impairment	Attention deficit hyperactivity disorder, Short attention span, Hydrocephalus	ORPHA:447788
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Delayed epiphyseal ossification, Hydrocephalus, Thick eyebrow, Flexion contracture, J...	OMIM:616007
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Joint hypermobility, Hydrocephalus, Hypertrichosis	OMIM:618590
Wolf-Hirschhorn Syndrome	Hypospadias, Abnormal sternal ossification, Accessory spleen, Highly arched eyebrow, Hydrocephalu...	OMIM:194190
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus, Ureteral triplication, Absent nipple, Hydronephrosis, Mitral valve prolapse, Umbil...	OMIM:104350
Xeroderma Pigmentosum	Decreased testicular size, Hyperkeratosis, Cryptorchidism, Alopecia	ORPHA:910
Whim Syndrome	Limb ataxia, Lymphadenitis, Abnormal neutrophil morphology, Tetralogy of Fallot, Lymphopenia, Cel...	ORPHA:51636
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Transient hyperphenylalaninemia, Depression, Hyperactivity, Tremor, Hyperpheny...	OMIM:612716
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hydrocephalus, Craniosynostosis, Abnormality of the pancreas, Umbilical hernia	ORPHA:1555
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Urachal cyst, Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, ...	OMIM:608203
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Unsteady gait	OMIM:617542
Hemangioblastoma	Hydrocephalus, Neurogenic bladder	ORPHA:252054
Chromosome 17P13.1 Deletion Syndrome	Knee flexion contracture, Highly arched eyebrow, Hydrocephalus, Elbow flexion contracture, Synoph...	OMIM:613776
Achondroplasia	Limited elbow extension, Hydrocephalus, Hip joint hypermobility, Obesity, Knee joint hypermobility	ORPHA:15
Focal Dermal Hypoplasia	Abnormality of the nail, Alopecia	ORPHA:2092
Dural Sinus Malformation	Hydrocephalus, Ataxia, Dementia, Myelopathy, Mental deterioration	ORPHA:97339
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Nail dysplasia, Nail dystrophy, Dystrophic fingernails, Alopecia, Absent eyelashes, Hyperkeratosi...	OMIM:308205
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Peho Syndrome	Hydrocephalus, Limitation of joint mobility, Flexion contracture, Ventriculomegaly, Arthrogryposi...	ORPHA:2836
Ciliary Dyskinesia, Primary, 1	Situs inversus totalis, Communicating hydrocephalus, Asplenia	OMIM:244400
Rhombencephalosynapsis	Hydrocephalus, Ventriculomegaly, Ataxia, Abnormal renal morphology	ORPHA:59315
Classical-Like Ehlers-Danlos Syndrome Type 2	Cryptorchidism, Alopecia	ORPHA:536532
Orofaciodigital Syndrome Type 1	Brittle hair, Sparse hair, Pancreatic cysts, Coarse hair, Alopecia	ORPHA:2750
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus, Multicystic kidney dysplasia, Abnormally ossified vertebrae	ORPHA:3301
Rothmund-Thomson Syndrome Type 2	Nail dysplasia, Sparse or absent eyelashes, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Alope...	ORPHA:221016
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Ventriculomegaly	OMIM:109120
Holoprosencephaly-Postaxial Polydactyly Syndrome	Renal hypoplasia/aplasia, Hypospadias, Encephalocele, Hypoplasia of penis, Hydrocephalus, Abnorma...	ORPHA:2166
Cousin Syndrome	Facial hirsutism, Hydranencephaly, Hydrocephalus, Wrist flexion contracture, Camptodactyly, Humer...	OMIM:260660
Limb Body Wall Complex	Congenital diaphragmatic hernia, Ectopia cordis, Abnormality of the kidney, Ventral hernia, Anenc...	ORPHA:2369
Autoimmune Polyendocrinopathy Type 4	Alopecia, Anterior pituitary dysgenesis	ORPHA:227990
Blau Syndrome	Anemia, Lymphadenopathy, Limitation of joint mobility, Synovitis, Pericarditis, Camptodactyly of ...	ORPHA:90340
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
Costello Syndrome	Limited elbow movement, Lymphangiectasis, Tracheomalacia, Hydrocephalus, Hyperextensibility of th...	OMIM:218040
Thoracoabdominal Syndrome	Congenital diaphragmatic hernia, Ectopia cordis, Transposition of the great arteries, Ventral her...	OMIM:313850
Systemic Sclerosis	Nail bed telangiectasia, Alopecia	ORPHA:90291
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus, Obesity	OMIM:601794
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Sparse hair	OMIM:302960
Thakker-Donnai Syndrome	Congenital diaphragmatic hernia, Transposition of the great arteries, Cervical C2/C3 vertebral fu...	ORPHA:1780
Juvenile Dermatomyositis	Alopecia	ORPHA:93672
Riddle Syndrome	Emotional lability, Arthritis, Enuresis nocturna, Gait disturbance, Ataxia, Elevated circulating ...	ORPHA:420741
Autoimmune Polyendocrinopathy Type 3	Alopecia, Autoimmune hypoparathyroidism, Anterior pituitary dysgenesis	ORPHA:227982
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Unilateral renal agenesis, Inguinal hernia, Hyperactivity, Hydrocephalus, Joint hypermobility, Ve...	ORPHA:457284
Campomelic Dysplasia	Hypospadias, Poorly ossified cervical vertebrae, Absent sternal ossification, Delayed epiphyseal ...	OMIM:114290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Elevated circulating creatine ...	OMIM:236670
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Congenital diaphragmatic hernia, Anencephaly, Hydrocephalus, Polycystic kidney dysplasia, Occipit...	OMIM:616546
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Elevated circulating creatine kinase concentration, Congenital cont...	OMIM:613150
Chilton-Okur-Chung Neurodevelopmental Syndrome	Highly arched eyebrow, Sparse hair, Mild fetal ventriculomegaly, Joint hypermobility, Aggressive ...	OMIM:619841
Sturge-Weber Syndrome	Attention deficit hyperactivity disorder, Dysphagia, Hydrocephalus, Hyperostosis	ORPHA:3205
Crouzon Syndrome	Coronal craniosynostosis, Lambdoidal craniosynostosis, Sagittal craniosynostosis, Hydrocephalus	OMIM:123500
Distal 22Q11.2 Microduplication Syndrome	Tricuspid valve prolapse, Unilateral renal agenesis, Hydrocephalus, Low posterior hairline, Campt...	ORPHA:261337
Fontaine Progeroid Syndrome	Hydrocephalus, Hypoplastic nipples, Absent nipple, Sparse scalp hair, Synophrys, Low posterior ha...	OMIM:612289
Radial Aplasia, X-Linked	Hydrocephalus, Penile hypospadias	OMIM:312190
Tetrasomy 5P	Pericallosal lipoma, Failure to thrive, Hydrocephalus	ORPHA:3309
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Hydrocephalus, Urinary incontinence, Brain abscess	OMIM:616482
Encephalocraniocutaneous Lipomatosis	Abnormal eyelash morphology, Alopecia	ORPHA:2396
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus, Endocardial fibroelastosis	OMIM:600559
Sympathetic Ophthalmia	Poliosis, Alopecia	ORPHA:79098
Generalized Arterial Calcification Of Infancy	Irritability, Hypophosphatemic rickets, Fused cervical vertebrae, Osteomalacia, Ventricular hyper...	ORPHA:51608
Thyroid Lymphoma	Lymphadenopathy, Dysphagia	ORPHA:97285
Gallbladder Neuroendocrine Tumor	Anorexia, Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy...	ORPHA:100086
Kabuki Syndrome 1	Atrial septal defect, Highly arched eyebrow, Hydrocephalus, Hirsutism, Ventricular septal defect,...	OMIM:147920
Pfeiffer Syndrome	Coronal craniosynostosis, Humeroradial synostosis, Elbow ankylosis, Hydrocephalus	OMIM:101600
Hereditary Sensory And Autonomic Neuropathy Type 4	Abnormal emotion, Difficulty walking, Anemia, Nail-biting, Hyperactivity, Self-mutilation, Short ...	ORPHA:642
Autosomal Recessive Robinow Syndrome	Fingernail dysplasia, Cryptorchidism, Long eyelashes, Alopecia	ORPHA:1507
Autosomal Dominant Robinow Syndrome	Curly eyelashes, Long eyelashes, Onychogryposis of fingernail, Ridged fingernail, Fingernail dysp...	ORPHA:3107
Isotretinoin-Like Syndrome	Inguinal hernia, Abnormal cardiac ventricle morphology, Hydrocephalus, Aortic valve stenosis, Bic...	ORPHA:2306
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Anemia, Hydrocephalus, Bone cyst, Gait disturbance, Synophrys, Hip contracture, Flexion contractu...	ORPHA:3042
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, T lymphocytopenia,...	ORPHA:35078
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Craniosynostosis, Unilateral renal agenesis, Communicating hydrocephalus	ORPHA:1064
Arachnoiditis	Hydrocephalus, Urinary bladder sphincter dysfunction	ORPHA:137817
Tay-Sachs Disease	Psychomotor deterioration, Exaggerated startle response, Dementia	OMIM:272800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Ventriculomegaly, Elevated circulating creatine kinase concentration	OMIM:616538
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Alstrom Syndrome	Decreased response to growth hormone stimulation test, Multinodular goiter, Alopecia	OMIM:203800
Beare-Stevenson Cutis Gyrata Syndrome	Limited elbow extension, Hypospadias, Hydrocephalus, Craniosynostosis, Ventriculomegaly	OMIM:123790
Linear Skin Defects With Multiple Congenital Anomalies 1	Congenital diaphragmatic hernia, Hypospadias, Hydrocephalus, Histiocytoid cardiomyopathy, Chordee...	OMIM:309801
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Oxoglutaric Aciduria	Hydrocephalus, Abnormal urine alpha-ketoglutarate concentration, Ataxia	ORPHA:31
Igg4-Related Submandibular Gland Disease	Abnormality of the kidney, Cholangitis, Abnormal pancreas morphology, Renal insufficiency, Lympha...	ORPHA:449432
Mycophenolate Mofetil Embryopathy	Congenital diaphragmatic hernia, Ectopic kidney, Tracheomalacia, Hydrocephalus, Ventricular septa...	ORPHA:268249
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus, Abnormality of the lymphatic system, Neurogenic bladder, Abnormal heart morphology	ORPHA:137667
Holoprosencephaly 14	Aqueductal stenosis, Subependymal cysts, Aortic valve atresia, Hydrocephalus, Dandy-Walker malfor...	OMIM:619895
Acrofacial Dysostosis 1, Nager Type	Congenital diaphragmatic hernia, Limited elbow extension, Aqueductal stenosis, Unilateral renal a...	OMIM:154400
Chromosome 1P36 Deletion Syndrome, Distal	Ectopic kidney, Abnormality of the hairline, Dysphagia, Lateral ventricle dilatation, Bicuspid ao...	OMIM:607872
Spastic Tetraplegia And Axial Hypotonia, Progressive	Ataxia, Exaggerated startle response	OMIM:618598
Acrofacial Dysostosis, Cincinnati Type	Biventricular hypertrophy, Aqueductal stenosis, Cleft anterior mitral valve leaflet, Inguinal her...	OMIM:616462
Yunis-Varon Syndrome	Severe failure to thrive, Hypospadias, Absent sternal ossification, Hydrocephalus, Renal artery s...	ORPHA:3472
Yellow Fever	Acute kidney injury, Jaundice, Hyperbilirubinemia, Anuria, Acute pancreatitis, Leukocytosis, Elev...	ORPHA:99829
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Ankle flexion contracture, Reduced bone mineral density, Hip contracture, Knee flexion contractur...	OMIM:620232
Behcet Syndrome	Patchy alopecia	OMIM:109650
Hec Syndrome	Cardiomyopathy, Communicating hydrocephalus, Endocardial fibroelastosis	ORPHA:2119
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Hydrocephalus, Dandy-Walker malformation, Elevated circulating creatine kinase con...	OMIM:614643
Hydrolethalus	Hydrocephalus, Anencephaly	ORPHA:2189
Mend Syndrome	Hyperactivity, Hydrocephalus, Dandy-Walker malformation, Aortic valve stenosis, Failure to thrive...	OMIM:300960
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Partial development of the penile shaft, Exaggerated startle response	OMIM:608800
Chikungunya	Periostitis, Stiff interphalangeal joints, Lymphadenopathy, Depression, Arthritis, Synovitis, Joi...	ORPHA:324625
Woodhouse-Sakati Syndrome	Decreased response to growth hormone stimulation test, Decreased testicular size, Aplasia/Hypopla...	ORPHA:3464
Hydrocephalus, Congenital, X-Linked	Hydrocephalus, Aqueductal stenosis	OMIM:307000
Meningioma	Urinary incontinence, Difficulty walking, Memory impairment, Emotional lability, Transient global...	ORPHA:2495
Thanatophoric Dysplasia, Type I	Hydrocephalus	OMIM:187600
Adams-Oliver Syndrome 1	Small nail, Supernumerary nipple, Alopecia	OMIM:100300
Igg4-Related Ophthalmic Disease	Abnormality of the kidney, Pancreatitis, Cholangitis, Lymphadenopathy, Elevated circulating C-rea...	ORPHA:449563
Severe Generalized Junctional Epidermolysis Bullosa	Nail dystrophy, Abnormality of the nail, Anonychia, Paronychia, Alopecia	ORPHA:79404
Carney Triad	Anorexia, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:139411
Phakomatosis Pigmentokeratotica	Pheochromocytoma, Cryptorchidism, Patchy alopecia	ORPHA:2874
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response, Dementia	OMIM:272750
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urinary incontinence, Hypospadias, Pelvic kidney, Grade III vesicoureteral reflux, Enuresis, Exag...	OMIM:619522
Basal Cell Nevus Syndrome 1	Cardiac rhabdomyoma, Hydrocephalus, Spina bifida, Cardiac fibroma, Irregular ossification of hand...	OMIM:109400
Fraser Syndrome 1	Renal hypoplasia/aplasia, Hypospadias, Encephalocele, Hydrocephalus, Absent eyelashes, Myelomenin...	OMIM:219000
Microphthalmia With Linear Skin Defects Syndrome	Epispadias, Congenital diaphragmatic hernia, Tricuspid valve prolapse, Hypospadias, Hydrocephalus...	ORPHA:2556
Hyperekplexia 3	Hiatus hernia, Exaggerated startle response	OMIM:614618
Iniencephaly	Congenital diaphragmatic hernia, Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malforma...	ORPHA:63259
Pfeiffer Syndrome Type 2	Hydrocephalus, Aqueductal stenosis, Limitation of joint mobility, Tracheomalacia	ORPHA:93259
Hyperekplexia 2	Hiatus hernia, Exaggerated startle response	OMIM:614619
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Hypercalciuria, Ele...	ORPHA:653
Pneumocystosis	Abnormal neutrophil count, Weight loss	ORPHA:723
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Occipital encephalocele, Anencephaly, Hydrocephalus, Dandy-Walker malformation, Elevated circulat...	OMIM:615287
Congenital Tracheomalacia	Tracheomalacia, Tracheobronchomalacia, Failure to thrive, Abnormal heart morphology, Tetralogy of...	ORPHA:95430
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Weight loss	ORPHA:52417
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Roberts-Sc Phocomelia Syndrome	Ankle flexion contracture, Hypospadias, Frontal encephalocele, Accessory spleen, Long penis, Poly...	OMIM:268300
Vacterl With Hydrocephalus	Aqueductal stenosis, Renal hypoplasia/aplasia, Inguinal hernia, Hydrocephalus, Femoral hernia, Sp...	ORPHA:3412
Neuroendocrine Neoplasm Of Appendix	Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Tricuspid stenos...	ORPHA:100079
Dermatomyositis	Palmar hyperkeratosis, Abnormal hair quantity, Abnormality of the nail, Alopecia	ORPHA:221
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m...	ORPHA:1457
Peters-Plus Syndrome	Bilobate gallbladder, Limited elbow movement, Ureteral duplication, Hypospadias, Ventriculomegaly...	OMIM:261540
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus, Cachexia, Confusion, Ataxia	ORPHA:220295
Hyperekplexia 1	Inguinal hernia, Exaggerated startle response, Umbilical hernia	OMIM:149400
Scalp-Ear-Nipple Syndrome	Nail dysplasia, Breast aplasia, Patchy alopecia, Sparse pubic hair, Sparse axillary hair, Sparse ...	OMIM:181270
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	OMIM:260500
Plague	Anorexia, Hepatomegaly, Depression, Arthritis, Lymphadenitis, Unsteady gait, Splenomegaly, Deliri...	ORPHA:707
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification, Weight loss	ORPHA:677
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Loss of eyelashes, Thin eyebrow, Sparse hair, Cryptorchidism, Alopecia	ORPHA:2636
Apert Syndrome	Hydrocephalus, Ventriculomegaly, Cervical C5/C6 vertebrae fusion	ORPHA:87
Coffin-Siris Syndrome 12	High anterior hairline, Elevated circulating hepatic transaminase concentration, Hypospadias, Hig...	OMIM:619325
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Umbilical hernia, Cardiomegaly, Joint hypermobility, Ventricular septal defect	ORPHA:96191
Truncus Arteriosus	Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla...	ORPHA:3384
Charge Syndrome	Pulmonic stenosis, Dysphagia, Dysplastic tricuspid valve, Umbilical hernia, Lymphopenia, Hypocalc...	OMIM:214800
Achondroplasia	Limited elbow extension, Limited hip extension, Hydrocephalus, Generalized joint hypermobility	OMIM:100800
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Ventriculomegaly, Nasofrontal encephalocele	OMIM:614195
Microphthalmia With Limb Anomalies	Tarsal synostosis, Camptodactyly of 2nd-5th fingers, Hydrocephalus, Synostosis of carpal bones, S...	ORPHA:1106
Cerebrooculonasal Syndrome	Encephalocele, Hydrocephalus, Dandy-Walker malformation, Sparse eyelashes, Sparse eyebrow, Cranio...	OMIM:605627
Sacral Defect With Anterior Meningocele	Myeloschisis, Meningocele, Hydrocephalus, Rectal abscess, Neurogenic bladder, Dermal sinus tract,...	OMIM:600145
Tetraamelia Syndrome 1	Congenital diaphragmatic hernia, Hydrocephalus, Asplenia, Renal agenesis, Urethral atresia	OMIM:273395
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Conotruncal defect	OMIM:243440
Thoracic Dysplasia-Hydrocephalus Syndrome	Ataxia, Communicating hydrocephalus	ORPHA:1861
Steinert Myotonic Dystrophy	Decreased response to growth hormone stimulation test, Cholelithiasis, Secondary hyperparathyroid...	ORPHA:273
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Nail dystrophy, Ureteral duplication, Inguinal hernia, Brittle h...	OMIM:305600
Relapsing Polychondritis	Alopecia	ORPHA:728
Baller-Gerold Syndrome	Limited elbow movement, Anomalous splenoportal venous system, Lambdoidal craniosynostosis, Abnorm...	OMIM:218600
Cole-Carpenter Syndrome	Joint hypermobility, Abnormal dental enamel morphology, Recurrent fractures, Communicating hydroc...	ORPHA:2050
Large Congenital Melanocytic Nevus	Hydrocephalus, Generalized hirsutism	ORPHA:626
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Large for gestational age, Difficulty walking, Broad eyebrow, Limitation of joint mobility, Commu...	ORPHA:457359
Peters Plus Syndrome	Ureteral duplication, Renal hypoplasia/aplasia, Hypospadias, Inguinal hernia, Spina bifida occult...	ORPHA:709
Hydrocephalus, Congenital, 4	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Townes-Brocks Syndrome 1	Hypospadias, Renal insufficiency, Hydrocephalus, Vesicoureteral reflux, Renal hypoplasia, Urethra...	OMIM:107480
Oeis Complex	Epispadias, Hydroureter, Duplicated collecting system, Vesicovaginal fistula, Hydrocephalus, Pelv...	OMIM:258040
Hydrolethalus Syndrome 1	Hypospadias, Anencephaly, Accessory spleen, Dandy-Walker malformation, Omphalocele, Hydronephrosi...	OMIM:236680
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease...	OMIM:301000
Ring Chromosome 13 Syndrome	Hypoplasia of the gallbladder, Alopecia	ORPHA:96176
Turner Syndrome Due To Structural X Chromosome Anomalies	Hyperconvex fingernails, Abnormality of the ovary, Low posterior hairline, Abnormal fingernail mo...	ORPHA:99413
Mosaic Monosomy X	Hyperconvex fingernails, Abnormality of the ovary, Low posterior hairline, Abnormal fingernail mo...	ORPHA:99228
Monosomy X	Hyperconvex fingernails, Abnormality of the ovary, Low posterior hairline, Abnormal fingernail mo...	ORPHA:99226
Turner Syndrome	Hyperconvex fingernails, Abnormality of the ovary, Low posterior hairline, Abnormal fingernail mo...	ORPHA:881
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Inguinal hernia, Cardiomegaly, Abnormality of connective tissue	ORPHA:91387
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla...	ORPHA:1677
Loeys-Dietz Syndrome 2	Inguinal hernia, Joint hypermobility, Hydrocephalus, Patent foramen ovale, Bicuspid pulmonary val...	OMIM:610168
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv...	ORPHA:3427
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Irritability, Exaggerated startle response, Thick eyebrow, Dysphagia, Lateral ventricle dilatation	OMIM:618367
Gorlin Syndrome	Cardiac fibroma, Hydrocephalus, Vertebral fusion	ORPHA:377
Laurin-Sandrow Syndrome	Hydrocephalus, Tarsal synostosis, Limitation of joint mobility	ORPHA:2378
Craniopharyngioma	Hydrocephalus, Obesity, Polyphagia, Increased susceptibility to fractures	ORPHA:54595
Fraser Syndrome 3	Hypoplasia of penis, Hydrocephalus, Bilateral renal agenesis, Ureteral agenesis, Hypoplasia of th...	OMIM:617667
Chronic Graft Versus Host Disease	Onycholysis, Nail dystrophy, Alopecia	ORPHA:99921
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus, Abdominal situs inversus	OMIM:618699
Holoprosencephaly 7	Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Omphalocele, Synophrys, Lob...	OMIM:610828
Igg4-Related Dacryoadenitis And Sialadenitis	Lymphadenopathy, Thrombocytopenia, Weight loss, Retroperitoneal fibrosis, Tubulointerstitial neph...	ORPHA:79078
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Full Nf2-Related Schwannomatosis	Memory impairment, Hydrocephalus, Unsteady gait, Dysphagia, Myelopathy	ORPHA:637
Otopalatodigital Syndrome, Type Ii	Hypospadias, Hydrocephalus, Omphalocele, Spina bifida, Hydronephrosis, Umbilical hernia, Sclerosi...	OMIM:304120
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:613603
Isolated Posterior Meningocele	Difficulty walking, Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Enuresi...	ORPHA:268810
Singleton-Merten Syndrome 1	Osteopenia, High anterior hairline, Osteolytic defects of the phalanges of the hand, Decreased bo...	OMIM:182250
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Large for gestational age, Communicating hydrocephalus, Gait ataxia, Sparse eyebrow, Joint hyperm...	OMIM:617011
Absence Of The Pulmonary Artery	Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom...	ORPHA:980
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation, Nephrolithiasis, Decreased level of plasminogen	ORPHA:722
Orofaciodigital Syndrome Ii	Hydrocephalus	OMIM:252100
Hutchinson-Gilford Progeria Syndrome	Dystrophic fingernails, Loss of eyelashes, Dystrophic toenail, Patchy alopecia, Absent eyebrow, A...	ORPHA:740
Loeys-Dietz Syndrome 1	Inguinal hernia, Joint hypermobility, Hydrocephalus, Bicuspid pulmonary valve, Camptodactyly, Mit...	OMIM:609192
Lhermitte-Duclos Disease	Hydrocephalus, Ataxia	ORPHA:65285
Fetal Akinesia Deformation Sequence 1	Hydrocephalus, Wrist flexion contracture, Congenital contracture, Camptodactyly of finger, Hip co...	OMIM:208150
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hydrocephalus, Elevated circulating creatine kinase concentration, Limb dystonia, Dystonia, Hemol...	OMIM:175780
Viss Syndrome	Hirsutism, Sparse scalp hair, Alopecia	OMIM:619472
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Holoprosencephaly 9	Alobar holoprosencephaly, Hydrocephalus, Lateral ventricular asymmetry, Occipital meningocele, Ho...	OMIM:610829
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a...	ORPHA:1478
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus, Omphalocele	ORPHA:2736
Neurofibromatosis, Type I	Hydrocephalus, Aqueductal stenosis, Renal artery stenosis, Spina bifida	OMIM:162200
Pallister-Killian Syndrome	Sparse anterior scalp hair, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Cry...	OMIM:601803
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Ventriculomegaly, Elevated circulating creatine kinase concentration	OMIM:253280
Vascular Ehlers-Danlos Syndrome	Abnormal eyelash morphology, Abnormality of hair texture, Aplasia/Hypoplasia of the eyebrow, Cryp...	ORPHA:286
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus	ORPHA:91350
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Craniofacial Microsomia 1	Occipital encephalocele, Ectopic kidney, Hydrocephalus, Vesicoureteral reflux, Renal agenesis, Ur...	OMIM:164210

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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