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Gene: Camsap3 MGI:1916947

Gene Summary

Name:

calmodulin regulated spectrin-associated protein family, member 3

Synonyms:

2310057J16Rik, Nezha

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
decreased hemoglobin content	Camsap3^{tm1a(EUCOMM)Wtsi}	HET	Early adult	1.50×10^-06
trunk curl	Camsap3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	6.62×10^-05
increased circulating alkaline phosphatase level	Camsap3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.54×10^-23
preweaning lethality, incomplete penetrance	Camsap3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased circulating glycerol level	Camsap3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.66×10^-08
abnormal cornea morphology	Camsap3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.82×10^-06
corneal opacity	Camsap3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.75×10^-06
increased circulating sodium level	Camsap3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.73×10^-06
decreased blood urea nitrogen level	Camsap3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.97×10^-05
decreased bone mineral content	Camsap3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.05×10^-14
cataract	Camsap3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	4.21×10^-05
increased neutrophil cell number	Camsap3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
absent pinna reflex	Camsap3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.10×10^-19
abnormal auditory brainstem response	Camsap3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.19×10^-10
decreased circulating HDL cholesterol level	Camsap3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.40×10^-05
increased circulating chloride level	Camsap3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.28×10^-06
decreased circulating glucose level	Camsap3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.78×10^-06
decreased lean body mass	Camsap3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.76×10^-06
decreased circulating cholesterol level	Camsap3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	8.07×10^-05
increased gamma-delta T cell number	Camsap3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
abnormal lens morphology	Camsap3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	4.21×10^-05
increased total body fat amount	Camsap3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.47×10^-06
increased leukocyte cell number	Camsap3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.04×10^-08
female infertility	Camsap3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased circulating cholesterol level	Camsap3^{tm1a(EUCOMM)Wtsi}	HET	Early adult	1.30×10^-07
increased circulating thyroxine level	Camsap3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.01×10^-05
abnormal bone structure	Camsap3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.21×10^-18
fused cornea and lens	Camsap3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.46×10^-05
male infertility	Camsap3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased body length	Camsap3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.15×10^-07
decreased bone mineral density	Camsap3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.85×10^-11
decreased circulating HDL cholesterol level	Camsap3^{tm1a(EUCOMM)Wtsi}	HET	Early adult	2.12×10^-06

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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 Lateral Orientation

12 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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Eye Morphology

Images Ophthalmoscopy

4 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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X-ray

XRay Images Skull Lateral Orientation

12 Images

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Eye Morphology

Images Slit Lamp

7 Images

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X-ray

XRay Images Forepaw

12 Images

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Ear epidermis immunophenotyping

Images

10 Images

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Legacy Phenotype Associated Images

Camsap3^{tm1a(EUCOMM)Wtsi}
HOM, Female, WTSI

View all 60 images

Camsap3^{tm1a(EUCOMM)Wtsi}
fused cornea and lens, HOM, Female, WTSI

Camsap3^{tm1a(EUCOMM)Wtsi}
persistence of hyaloid vascular system, HOM, Female, WTSI

Camsap3^{tm1a(EUCOMM)Wtsi}
abnormal cornea morphology, HOM, Female, WTSI

Camsap3^{tm1a(EUCOMM)Wtsi}
fused cornea and lens, HOM, Female, WTSI

View all 11 images

Camsap3^{tm1a(EUCOMM)Wtsi}
head, HOM, Male, WTSI

Camsap3^{tm1a(EUCOMM)Wtsi}
head, abnormal snout morphology, upturned snout, HOM, Male, WTSI

Camsap3^{tm1a(EUCOMM)Wtsi}
head, HOM, Male, WTSI

Camsap3^{tm1a(EUCOMM)Wtsi}
abnormal snout morphology, asymmetric snout, malocclusion, head, HOM, Male, WTSI

Camsap3^{tm1a(EUCOMM)Wtsi}
head, abnormal snout morphology, asymmetric snout, malocclusion, HOM, Male, WTSI

View all 10 images

Camsap3^{tm1a(EUCOMM)Wtsi}
anterior commissure, decreased anterior commissure size, HOM, Male, WTSI

Camsap3^{tm1a(EUCOMM)Wtsi}
brain, microcephaly, HOM, Male, WTSI

Camsap3^{tm1a(EUCOMM)Wtsi}
internal capsule, decreased brain internal capsule size, HOM, Male, WTSI

Camsap3^{tm1a(EUCOMM)Wtsi}
decreased anterior commissure size, anterior commissure, HOM, Male, WTSI

Camsap3^{tm1a(EUCOMM)Wtsi}
internal capsule, decreased brain internal capsule size, HOM, Male, WTSI

View all 7 images

Human diseases caused by Camsap3 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 Camsap3 (0 diseases)
Human diseases predicted to be associated with Camsap3 (1175 diseases)

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

The table below shows human diseases predicted to be associated to Camsap3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Diarrhea 5, With Tufting Enteropathy, Congenital	Villous atrophy, Failure to thrive, Small for gestational age, Crypt hyperplasia	OMIM:613217
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Diarrhea 9	Villous atrophy, Failure to thrive	OMIM:618168
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol...	OMIM:615558
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Diarrhea 7, Protein-Losing Enteropathy Type	Villous atrophy, Failure to thrive, Protein-losing enteropathy	OMIM:615863
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Acute Bilirubin Encephalopathy	Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearin...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearin...	ORPHA:529808
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot...	OMIM:246700
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract, Infertility, Hearing impairment	OMIM:300719
Spondylo-Ocular Syndrome	Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Ventricular septal defect, Osteopor...	ORPHA:85194
Winchester Syndrome	Osteolysis involving tarsal bones, Generalized osteoporosis, Carpal osteolysis, Corneal opacity	OMIM:277950
Lactose Intolerance, Adult Type	Lactose intolerance, Decreased small intestinal mucosa lactase level	OMIM:223100
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Villous atrophy, Abnormal intestine morphology	OMIM:251850
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules	OMIM:619445
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Bicuspid aortic valve, Premature thelarche, Osteolysis involving bones of the upper l...	ORPHA:371428
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Corneal opacity, Thrombocytopenia	ORPHA:1980
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Vasculitis, Decreased mean platelet volume...	OMIM:617718
Corneal Dystrophy-Perceptive Deafness Syndrome	Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy	ORPHA:1490
Spastic Paraparesis And Deafness	Tremor, Cataract, Hypogonadism, Hearing impairment	OMIM:312910
Chronic Diarrhea Due To Glucoamylase Deficiency	Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal...	ORPHA:103907
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Female infertility, Osteoporosis, Primary amenorrhea, Delayed pu...	OMIM:300604
Stiff Skin Syndrome	Cataract, Lipodystrophy, Bicuspid aortic valve, Elbow flexion contracture, Limited shoulder movem...	OMIM:184900
Sialidosis Type 2	Hepatomegaly, Inguinal hernia, Corneal opacity, Tremor, Splenomegaly, Flexion contracture, Osteop...	ORPHA:87876
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cryptorchidism, Cataract, Tetralogy of Fallot, Aplasia/Hypoplasia of the lens	ORPHA:1381
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Diarrhea 11, Malabsorptive, Congenital	Villous atrophy	OMIM:618662
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Hyponatremia, Elevated circulating creatine kinase concentration, ...	ORPHA:94093
Galactosialidosis	Cherry red spot of the macula, Corneal opacity, Hearing impairment	ORPHA:351
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Corneal opacity, Large for gestational age, Microcornea, Microphthalmia	ORPHA:2432
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Developmental c...	OMIM:616834
Congenital Rubella Syndrome	Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Atrial septal defec...	ORPHA:290
Mucolipidosis Type Iii	Craniofacial hyperostosis, Inguinal hernia, Corneal opacity, Abnormal heart valve morphology, Joi...	ORPHA:577
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Myh9-Related Disease	Elevated hepatic transaminase, Increased mean platelet volume, Sensorineural hearing impairment, ...	ORPHA:182050
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Squalene Synthase Deficiency	Failure to thrive in infancy, Optic nerve hypoplasia, Posteriorly rotated ears, Increased circula...	OMIM:618156
Kniest Dysplasia	Retinal detachment, Aplasia/Hypoplasia of the lens, Cataract, Rhegmatogenous retinal detachment, ...	ORPHA:485
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:3177
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Coronary artery atherosclerosis, Carotid artery ste...	OMIM:210250
Sneddon Syndrome	Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Tremor, Atrophic scars, Stroke, Ischemi...	OMIM:182410
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia	ORPHA:171844
Alg8-Cdg	Elevated hepatic transaminase, Hyponatremia, Cataract, Small for gestational age, Abnormality of ...	ORPHA:79325
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Decreased circulating cortisol level, Hashimoto thyroiditis, Hyponatremia, Hyp...	ORPHA:199299
Contractural Arachnodactyly, Congenital	Osteopenia, Hip contracture, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defe...	OMIM:121050
Mucous Membrane Pemphigoid	Atypical scarring of skin, Corneal opacity	ORPHA:46486
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hypoglycemia, T...	ORPHA:3008
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Posteriorly rotated ears, Bicuspid aortic valve, Ventricular septal defe...	ORPHA:284169
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Nail-Patella Syndrome	Keratoconus, Cataract, Glenoid fossa hypoplasia, Spina bifida, Pectus excavatum, Sensorineural he...	OMIM:161200
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Low-set, posteriorly rotated ears, Corneal opacity, Reduced bone mineral density	ORPHA:2370
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Atrial septal defect, Bicuspid aortic valve, Tremor, Decreased serum creatinine, Failure to thriv...	OMIM:617744
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Cataract, Impaired glucose tolerance, Increased circulating ferr...	OMIM:606069
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th...	OMIM:132900
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Joint laxity, Diabetes mellitus, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism...	ORPHA:500159
Galactokinase Deficiency	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Small for gestational age, Catar...	ORPHA:79237
Bardet-Biedl Syndrome 2	Diabetes mellitus, Bicuspid aortic valve, Dilated cardiomyopathy, Obesity, Hypogonadism, Atrial s...	OMIM:615981
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni...	OMIM:615751
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Horizontal ribs, Cryptorchidism, Pate...	OMIM:614857
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614495
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Baraitser-Winter Syndrome 1	Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Sensorineural hearing impairment...	OMIM:243310
Alpha-Mannosidosis	Craniofacial hyperostosis, Inguinal hernia, Cataract, Corneal opacity, Splenomegaly, Arthritis, T...	ORPHA:61
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hyponatremia, Neonatal insuli...	ORPHA:1667
Classic Galactosemia	Reduced bone mineral density, Male infertility, Hepatomegaly, Premature ovarian insufficiency, Cr...	ORPHA:79239
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Tremor, Flexion contracture, Hepatic fibrosis, Hypoalbuminemia, Hypocholesterolemia, ...	OMIM:212065
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Inguinal hernia, Bicuspid aortic valve, Ventricular septal defect, Pectus excavatum, Cryptorchidi...	ORPHA:329224
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614496
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Optic nerve hypoplasia, E...	OMIM:301056
Inflammatory Skin And Bowel Disease, Neonatal, 1	Villous atrophy, Failure to thrive, Duodenitis	OMIM:614328
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchid...	OMIM:614736
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Erythrokeratodermia Variabilis	Cataract, Diabetes mellitus, Corneal opacity, Weight loss, Protruding ear, Abnormal testis morpho...	ORPHA:317
Webb-Dattani Syndrome	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid...	OMIM:615926
Oculoauricular Syndrome	Retinal detachment, Cataract, Sclerocornea, Absent earlobe, Spina bifida occulta, Developmental c...	OMIM:612109
Hypergonadotropic Hypogonadism-Cataract Syndrome	Cataract, Hypergonadotropic hypogonadism, Recurrent fractures, Increased circulating gonadotropin...	ORPHA:2410
Lathosterolosis	Elevated hepatic transaminase, Cataract, Foam cells with lamellar inclusion bodies, Bilobate gall...	OMIM:607330
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmon...	OMIM:618845
Craniofaciofrontodigital Syndrome	Osteopenia, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Large for gestational a...	ORPHA:363705
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Hurler-Scheie Syndrome	Hepatomegaly, Corneal opacity, Abnormal heart valve morphology, Splenomegaly, Sensorineural heari...	ORPHA:93476
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Cataract, Elevated circulating creatine kinase concentration, Decreased movement range in interph...	OMIM:609115
Cantu Syndrome	Bicuspid aortic valve, Large for gestational age, Cardiomegaly, Pericardial effusion, Patent duct...	OMIM:239850
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, C...	ORPHA:1473
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Failure to thrive, Hypernatremia, Diabetes insipidus	OMIM:304800
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia, Retinal detachment, Cataract, Optic nerve hypoplasia, Failure to thrive, Hearing im...	OMIM:620157
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Nephrogenic diabetes insipidus, Failure to thrive, Hypernatremia	OMIM:125800
Hypoalphalipoproteinemia, Primary, 2	Decreased HDL cholesterol concentration, Corneal arcus, Cataract	OMIM:618463
Alg12-Cdg	Elevated hepatic transaminase, Hyponatremia, Decreased serum insulin-like growth factor 1, Retina...	ORPHA:79324
Glucose-Galactose Malabsorption	Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss	ORPHA:35710
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Pectus carinatu...	OMIM:245600
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Corneal opacity, Cryptorchidism, Flexion contracture, Developmental cataract, EEG abnormality	OMIM:618815
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Diabetes mellitus, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hype...	OMIM:613845
Loeys-Dietz Syndrome 4	Joint laxity, Inguinal hernia, Flat cornea, Bicuspid aortic valve, Torticollis, Arterial tortuosi...	OMIM:614816
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Inguinal hernia, Cataract, Small for gestational age, Posteriorly rotated ears, Reduced bone mine...	OMIM:618392
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Elevated circulating C-reacti...	OMIM:619381
Mirage Syndrome	Hyponatremia, Hypergonadotropic hypogonadism, Hypoglycemia, Adrenal hypoplasia, Radial club hand,...	OMIM:617053
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Addison Disease	Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi...	ORPHA:85138
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Hepatic fibrosis, Hypoalbumine...	ORPHA:14
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent...	OMIM:136120
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Decreased circ...	OMIM:610600
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Multiple muscular ventricular septal defects, Hypoalbuminemia, Hypernatremia, Pulmonic stenosis, ...	OMIM:615508
Mucolipidosis Iv	Corneal opacity, Optic atrophy, Hypergastrinemia, Opacification of the corneal stroma, Dystonia, ...	OMIM:252650
Deafness-Infertility Syndrome	Male infertility, Azoospermia, Sensorineural hearing impairment	ORPHA:94064
Trichohepatoenteric Syndrome 2	Failure to thrive, Villous atrophy, Colitis, Small for gestational age	OMIM:614602
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ...	OMIM:607765
Pituitary Apoplexy	Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	ORPHA:95613
Proprotein Convertase 1/3 Deficiency	Villous atrophy, Obesity, Malabsorption	OMIM:600955
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Neonatal hypoglycemia, Increased circulating ...	ORPHA:90791
Sialidosis Type 1	Cataract, Corneal opacity, Decreased nerve conduction velocity, Splenomegaly, Sensorineural heari...	ORPHA:812
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Hypogonadotropic hypogonadism, Camptodactyly of finger, Hypoglycemia, Osteoporosis, Mic...	ORPHA:48431
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa...	OMIM:267700
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Galactosemia Iv	Cataract, Hypergalactosemia	OMIM:618881
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Sensorineural hearing impairment, Giant platelets, Macrothrombocytope...	OMIM:155100
Autoinflammation With Infantile Enterocolitis	Villous atrophy, Failure to thrive, Enterocolitis	OMIM:616050
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Decreased circulating hepcidin concentration, Dia...	ORPHA:101330
Retinitis Pigmentosa 89	Bicuspid aortic valve, Micronodular cirrhosis, Hepatosplenomegaly, Hepatic fibrosis, Intrahepatic...	OMIM:618955
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Corneal opacity, Congenital diaphragmatic hernia, Osteolysis involving tarsal bones, ...	OMIM:166300
Chédiak-Higashi Syndrome	Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Iris hypopi...	ORPHA:167
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Neutropenia	OMIM:616949
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Weill-Marchesani Syndrome 3	Joint stiffness, Ectopia lentis, Microspherophakia, Shallow anterior chamber, Pulmonic stenosis, ...	OMIM:614819
Peroxisome Biogenesis Disorder 3B	Sensorineural hearing impairment, Elevated circulating phytanic acid concentration, Osteoporosis,...	OMIM:266510
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Gómez-López-Hernández Syndrome	Corneal opacity, Low-set ears	ORPHA:1532
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:619831
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Developmental cataract, Hydrocele testis, Hypocholesterolemia, Neonatal death, Hype...	OMIM:618810
Galactosemia Ii	Cataract, Hypergalactosemia	OMIM:230200
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar...	ORPHA:91354
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration...	OMIM:613153
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Isotretinoin-Like Syndrome	Inguinal hernia, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morp...	ORPHA:2306
Adenohypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d...	ORPHA:95512
Dystonia 31	Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Abnormal posturing, Craniofacia...	OMIM:619565
Shigellosis	Hyponatremia, Failure to thrive in infancy, Abscess, Hypoglycemia, Myocarditis, Peritonitis, Leuk...	ORPHA:810
Panhypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d...	ORPHA:95513
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Proteus Syndrome	Venous malformation, Splenomegaly, Limbal dermoid, Mandibular hyperostosis, Multiple lipomas, Lip...	OMIM:176920
Congenital Disorder Of Glycosylation, Type Id	Villous atrophy, Failure to thrive, High palate, Bifid uvula	OMIM:601110
Congenital Disorder Of Glycosylation, Type Ib	Villous atrophy, Failure to thrive, Protein-losing enteropathy, Steatorrhea	OMIM:602579
Intellectual Developmental Disorder, Autosomal Dominant 48	Joint laxity, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Sensori...	OMIM:617751
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d...	ORPHA:91355
Potocki-Lupski Syndrome	Small for gestational age, EEG abnormality, Hypocholesterolemia, Failure to thrive, Hypothyroidis...	OMIM:610883
Cystinosis	Corneal opacity, Nephrogenic diabetes insipidus, Rickets, Hypokalemia, Hypophosphatemia, Type I d...	ORPHA:213
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal sternum morphol...	ORPHA:91387
Nephrogenic Diabetes Insipidus	Nephrogenic diabetes insipidus, Failure to thrive, Hypernatremia	ORPHA:223
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E...	ORPHA:556037
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Neonatal hypoglycemia, Abnormal ovarian physiology, Prematu...	ORPHA:90794
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Reduced bone min...	ORPHA:289548
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c...	ORPHA:361
Ophthalmomandibulomelic Dysplasia	Corneal opacity, Camptodactyly of finger, Limitation of joint mobility, Radioulnar synostosis, Ab...	ORPHA:2741
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Reduced bone mineral density, Increased...	ORPHA:168558
Tangier Disease	Accelerated atherosclerosis, Hypertriglyceridemia, Corneal opacity, Carotid artery stenosis, Thro...	ORPHA:31150
Syndromic Diarrhea	Bicuspid aortic valve, Abnormality of the liver, Hepatic fibrosis, Hypoplasia of the thymus, Atri...	ORPHA:84064
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Spermatogenic Failure 62	Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Non-obstructive azoospermia	OMIM:619672
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Harel-Yoon Syndrome	Corneal opacity, Optic atrophy, Pectus carinatum, Developmental cataract, Dystonia, Hypertrophic ...	OMIM:617183
Chylomicron Retention Disease	Acanthocytosis, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia	ORPHA:71
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E...	ORPHA:556030
Posttransplant Acute Limbic Encephalitis	Hyponatremia, EEG with abnormally slow frequencies, EEG with focal epileptiform discharges, Abnor...	ORPHA:163921
Koolen-De Vries Syndrome	Vertebral fusion, Cataract, Small for gestational age, Bicuspid aortic valve, Ventricular septal ...	OMIM:610443
Thrombocytopenia 1	Joint hemorrhage, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent throm...	OMIM:313900
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, ...	OMIM:214700
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Holoprosencephaly	Anophthalmia, Congenital diaphragmatic hernia, Abnormality of the spleen, Chorioretinal coloboma,...	ORPHA:2162
Herpes Simplex Virus Encephalitis	Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ...	ORPHA:1930
Trichohepatoenteric Syndrome 1	Hepatic fibrosis, Hypoalbuminemia, Hepatomegaly, Increased mean platelet volume, Abnormality of t...	OMIM:222470
Lessel-Kreienkamp Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Hypopla...	OMIM:619149
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Hyperprolactinemia	Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility	OMIM:615555
Coffin-Siris Syndrome 7	Posteriorly rotated ears, Bicuspid aortic valve, Sagittal craniosynostosis, Ventricular septal de...	OMIM:618027
9Q31.1Q31.3 Microdeletion Syndrome	Bicuspid aortic valve, Overweight, Dilated cardiomyopathy, Type II diabetes mellitus, Short clavi...	ORPHA:401923
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bicuspid aortic valve, Congenital diaphragmatic hernia, Spina bifida, Patent ductus arteriosus, A...	ORPHA:1120
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Hyponatremia, Hypertriglyceridemia, Pancytopenia, Sp...	OMIM:603553
Congenital Primary Aphakia	Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi...	ORPHA:83461
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Absent brainstem auditory responses, Cataract, Anoph...	ORPHA:90321
Koolen-De Vries Syndrome	Vertebral fusion, Cataract, Bicuspid aortic valve, Abnormal dental enamel morphology, Pectus exca...	ORPHA:96169
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl...	OMIM:300200
Renal Hypoplasia, Bilateral	Hyponatremia, Small for gestational age, Cryptorchidism, Hyperkalemia, Astigmatism, Glycosuria, F...	ORPHA:97362
Refractory Celiac Disease	Villous atrophy, Malabsorption, Weight loss, Protein-losing enteropathy, Jejunitis	ORPHA:398063
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Schuurs-Hoeijmakers Syndrome	Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Abnormal cardiac septum morpholo...	OMIM:615009
Stickler Syndrome Type 2	Sensorineural hearing impairment, Cataract, Corneal opacity	ORPHA:90654
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Familial Dysautonomia	Hyponatremia, Orthostatic hypotension, Corneal opacity, Recurrent fractures, Abnormal pupil morph...	ORPHA:1764
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Bicuspid aortic valve, Reduced bone mineral density, Enlarged thorax, Glucose intoler...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Bicuspid aortic valve, Reduced bone mineral density, Enlarged thorax, Glucose intoler...	ORPHA:99228
Monosomy X	Osteopenia, Bicuspid aortic valve, Reduced bone mineral density, Enlarged thorax, Glucose intoler...	ORPHA:99226
Turner Syndrome	Osteopenia, Bicuspid aortic valve, Reduced bone mineral density, Enlarged thorax, Glucose intoler...	ORPHA:881
Morquio Syndrome C	Corneal opacity	OMIM:252300
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta	ORPHA:228190
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Abnormal pupil morphology, Protruding ear, Lentiglobus, Hypon...	ORPHA:534
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Lateral Meningocele Syndrome	Vertebral fusion, Inguinal hernia, Posteriorly rotated ears, Bicuspid aortic valve, Ventricular s...	OMIM:130720
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Retinal detachment, Joint laxity, Corneal opacity, Isosexual precocious puberty, Oste...	ORPHA:2788
Cystinosis, Nephropathic	Hypophosphatemic rickets, Male hypogonadism, Hyponatremia, Hepatomegaly, Male infertility, Retina...	OMIM:219800
Norrie Disease	Sclerocornea, Venous insufficiency, Abnormal pupil morphology, Protruding ear, Hypoplasia of the ...	ORPHA:649
Lactase Deficiency, Congenital	Lactose intolerance, Decreased small intestinal mucosa lactase level	OMIM:223000
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Hypergonadotropic hypogonadism, Tremor, Elevated circulating phytanic acid concentratio...	OMIM:614307
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac...	OMIM:610202
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Decreased female libido, O...	ORPHA:95409
Schimke Immuno-Osseous Dysplasia	Failure to thrive, Small for gestational age, Abnormality of thyroid physiology, Corneal opacity,...	ORPHA:1830
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Cerebral vasculitis, Leukocytosis, Abnormal autonomic nervous system physiology, Hy...	ORPHA:83601
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:609129
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c...	OMIM:205400
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta	OMIM:604381
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Hyponatremia, Calcinosis, Cataract, Splenomegaly, Optic atrophy, Hypokalemia, Hypocal...	OMIM:617913
Williams Syndrome	Osteopenia, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Abnormal c...	ORPHA:904
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Joint laxity, Overriding aorta, Failure to thrive in infancy, Abnormal pinna morphology, Bicuspid...	ORPHA:477817
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thoracic scoliosis, Bicuspid aortic valve, Generalized joint laxity, Coloboma, Abnormal optic dis...	ORPHA:508498
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Inguinal hernia, Bicuspid aortic valve, Joint hypermobility, Cerebral hemorrhage, Hea...	ORPHA:536545
Short Syndrome	Posterior embryotoxon, Diabetes mellitus, Corneal opacity, Abnormal dental enamel morphology, Ing...	ORPHA:3163
Rabin-Pappas Syndrome	Hyponatremia, Retinal detachment, Cataract, Failure to thrive in infancy, Optic nerve hypoplasia,...	OMIM:620155
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Zellweger Syndrome	Hepatomegaly, Failure to thrive, Posterior embryotoxon, Corneal opacity, Cataract, Ventricular se...	ORPHA:912
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Failure to thrive in infancy, Posteriorly rotated ears, Cryptorch...	OMIM:611209
Juvenile Sialidosis Type 2	Hepatomegaly, Inguinal hernia, Cataract, Corneal opacity, Optic atrophy, Hepatosplenomegaly, Abno...	ORPHA:93399
Pelger-Huet Anomaly	Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia...	OMIM:169400
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Hyperli...	ORPHA:369
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Necrotizing Enterocolitis	Hyponatremia, Small for gestational age, Leukocytosis, Peritonitis, Abnormal heart morphology, Ab...	ORPHA:391673
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Progeroid Short Stature With Pigmented Nevi	Thoracic scoliosis, Diabetes mellitus, Premature ovarian insufficiency, Small for gestational age...	OMIM:176690
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Tremor, Osteoarthritis,...	OMIM:277900
Netherton Syndrome	Villous atrophy, Failure to thrive, Recurrent infection of the gastrointestinal tract, Intestinal...	OMIM:256500
Flynn-Aird Syndrome	Increased bone mineral density, Cataract, Joint stiffness, Osteoporosis, Increased bone density w...	OMIM:136300
Farber Disease	Elevated hepatic transaminase, Failure to thrive, Intrahepatic cholestasis with episodic jaundice...	ORPHA:333
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ...	ORPHA:905
Hypoadrenocorticism, Familial	Hyponatremia, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency	OMIM:240200
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera...	OMIM:264350
3-Methylglutaconic Aciduria Type 4	Cataract, Hypoglycemia, Hearing impairment, Cardiomyopathy, Decreased liver function, Failure to ...	ORPHA:67048
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased c...	OMIM:177735
Sanjad-Sakati Syndrome	Hypoparathyroidism, Low-set, posteriorly rotated ears, Corneal opacity, Abnormal dental enamel mo...	ORPHA:2323
Oculogastrointestinal Neurodevelopmental Syndrome	Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos, Coloboma, Simple ear	OMIM:619318
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity, Patent ductus arteriosus, Short ribs, Narrow chest, Coarse metaphyseal trabecula...	OMIM:618961
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma...	ORPHA:96180
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Bicuspid aortic valve, Ventricular septal defect, Hypoglycemia, Abnormal heart morphology, Astigm...	ORPHA:457279
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hypoglycemi...	ORPHA:199296
Intellectual Developmental Disorder, X-Linked 106	Cryptorchidism, Bicuspid aortic valve, Decreased testicular size, Low-set ears	OMIM:300997
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia	OMIM:618660
Microvillus Inclusion Disease	Villous atrophy, Abnormal small intestinal villus morphology	ORPHA:2290
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Bone-marrow foam cells, Precocious atherosclerosis, Microvesicular hepatic...	ORPHA:275761
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Sple...	OMIM:612526
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Hepatomegaly, Inguinal hernia, Cataract, Corneal opacity, Optic atrophy,...	ORPHA:93400
Weill-Marchesani Syndrome 2	Iridodonesis, Cataract, Ventricular septal defect, Lens luxation, Ectopia lentis, Joint stiffness...	OMIM:608328
Takenouchi-Kosaki Syndrome	Inguinal hernia, Posteriorly rotated ears, Increased mean platelet volume, Cryptorchidism, Patent...	OMIM:616737
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Sensorineural hearing impairment, Hypochloremia, Hypokalemia, Hyp...	OMIM:613090
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Ankle flexion contracture, Abnormal erythrocyte enzyme level, Abnormal circulating ...	ORPHA:100924
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyp...	ORPHA:171876
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Gaucher Disease	Osteopenia, Elevated circulating C-reactive protein concentration, Tremor, Osteoarthritis, Cherry...	ORPHA:355
Koolen-De Vries Syndrome Due To A Point Mutation	Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Pineal cyst, Protru...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Pineal cyst, Protru...	ORPHA:363958
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Aromatase Deficiency	Osteopenia, Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic ...	ORPHA:91
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Pectus carinatu...	ORPHA:496790
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio...	ORPHA:3240
Bile Acid Malabsorption, Primary, 1	Increased fecal bile acid, Fat malabsorption, Failure to thrive, Steatorrhea	OMIM:613291
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, P...	ORPHA:494444
Mucopolysaccharidosis, Type Ivb	Joint laxity, Hepatomegaly, Inguinal hernia, Corneal opacity, Grayish enamel, Joint stiffness, Os...	OMIM:253010
Primary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Functional abnormality of the gastrointestinal ...	ORPHA:90362
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Hengel-Maroofian-Schols Syndrome	Bicuspid aortic valve, Foot joint contracture, Dystonia	OMIM:619641
Bare Lymphocyte Syndrome, Type Ii	Failure to thrive, Villous atrophy, Colitis, Malabsorption	OMIM:209920
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Central Diabetes Insipidus	Hyponatremia, Failure to thrive, Diabetes insipidus, Weight loss	ORPHA:178029
Alpha-Mannosidosis, Adult Form	Osteopenia, Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Mixed hearing impairment,...	ORPHA:309288
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Bicuspid aortic valve, Ventricular septal defect, Craniosynostosis, Cryptorchidism, A...	ORPHA:453499
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari...	OMIM:617519
Kaufman Oculocerebrofacial Syndrome	Optic disc pallor, Abnormal pinna morphology, Ventricular septal defect, Coarctation of aorta, Mi...	OMIM:244450
Periventricular Nodular Heterotopia 1	Bicuspid aortic valve, Patent ductus arteriosus, Stroke, Cerebral hemorrhage	OMIM:300049
Marfan Syndrome	Bicuspid aortic valve, Incisional hernia, Flexion contracture, Pectus carinatum, Hypoplasia of th...	OMIM:154700
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemi...	OMIM:601678
Lowry-Maclean Syndrome	Osteopenia, Inguinal hernia, Corneal opacity, Craniosynostosis, Congenital diaphragmatic hernia, ...	ORPHA:2409
Jansen-De Vries Syndrome	Bicuspid aortic valve, Posteriorly rotated ears, Ventricular septal defect, Central diaphragmatic...	OMIM:617450
Snakebite Envenomation	Hyponatremia, Intracranial hemorrhage, Stroke, Hypopituitarism, Thrombocytopenia	ORPHA:449285
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Hypocalcemia, Lymphocytosis, Elevated hepatic iron...	OMIM:619991
Fish-Eye Disease	Hepatomegaly, Decreased HDL cholesterol concentration, Corneal opacity, Splenomegaly, Atheroscler...	ORPHA:79292
De Barsy Syndrome	Osteopenia, Inguinal hernia, Cataract, Corneal opacity, Lipodystrophy, Ventricular septal defect,...	ORPHA:2962
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob...	ORPHA:247353
Whipple Disease	Hyponatremia, Hepatomegaly, Pericarditis, Cachexia, Splenomegaly, Myocarditis, Insulin resistance...	ORPHA:3452
Hartsfield Syndrome	Posteriorly rotated ears, Craniosynostosis, Cryptorchidism, Gonadotropin deficiency, Low-set ears...	OMIM:615465
Weiss-Kruszka Syndrome	Bicuspid aortic valve, Ventricular septal defect, Hearing impairment, Cupped ear, Protruding ear,...	OMIM:618619
Werner Syndrome	Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Elevated circulating aspartate ...	OMIM:277700
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia, Hypergonadotropic hypogonadism, Hypoglycemia, Congenital sensorineural hearing impa...	OMIM:617872
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity, Cryptorchidism, Acute leukemia, Hypogonadism, Testicular seminoma	ORPHA:281090
Hereditary Coproporphyria	Hyponatremia, Abnormal circulating porphyrin concentration, Atypical scarring of skin, Long hairs...	ORPHA:79273
Gm1 Gangliosidosis	Inguinal hernia, Generalized dystonia, Corneal opacity, Camptodactyly of finger, Ventricular sept...	ORPHA:354
Retinitis Pigmentosa	Keratoconus, Cataract, Sensorineural hearing impairment, Hyperinsulinemia, Obesity, Optic atrophy...	ORPHA:791
Immunodeficiency 85 And Autoimmunity	Villous atrophy, Failure to thrive in infancy	OMIM:619510
Maternal Uniparental Disomy Of Chromosome 1	Pancytopenia, Cataract, Uplifted earlobe, Epiphyseal stippling, Type I diabetes mellitus, Failure...	ORPHA:251009
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia, Sensorineural hearing impairment	ORPHA:3225
Weill-Marchesani Syndrome 1	Cataract, Ventricular septal defect, Ectopia lentis, Joint stiffness, Patent ductus arteriosus, M...	OMIM:277600
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Cataract, Corneal opacity, Myopic astigmatism, Optic atrophy, Protruding ear,...	OMIM:152950
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Joint laxity, Bicuspid aortic valve, Hypoplastic left heart, Atrial septal defect, Failure to thr...	OMIM:619721
Otodental Syndrome	High-frequency sensorineural hearing impairment, Cataract, Abnormal dental enamel morphology, Len...	ORPHA:2791
Cardiac Valvular Dysplasia, X-Linked	Joint laxity, Bicuspid aortic valve, Joint stiffness, Short chordae tendineae of the tricuspid va...	OMIM:314400
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Cataract, Macular coloboma, Abnormal auditory evoked potentials, Macular atrop...	OMIM:619260
Galactosemia I	Hepatomegaly, Hemolytic anemia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, ...	OMIM:230400
Hyperchlorhidrosis, Isolated	Hyponatremia, Failure to thrive, Hyperkalemia	OMIM:143860
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bicuspid aortic valve, Protruding ear, Coloboma, Chorioretinal coloboma, Juvenile cataract, Hepat...	OMIM:619475
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Joint laxity, Dilation of Virchow-Robin spaces, Posteriorly rotated ears, Bicuspid aortic valve, ...	OMIM:619720
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Pseudohypoparathyroidism, Type Ic	Cataract, Elevated circulating thyroid-stimulating hormone concentration, Osteoporosis, Pseudohyp...	OMIM:612462
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Yuan-Harel-Lupski Syndrome	Joint laxity, Bicuspid aortic valve, Ventricular septal defect, Decreased nerve conduction veloci...	OMIM:616652
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,...	ORPHA:293978
Walker-Warburg Syndrome	Retinal detachment, Cataract, Corneal opacity, Anophthalmia, Posteriorly rotated ears, Cryptorchi...	ORPHA:899
Chronic Atrial And Intestinal Dysrhythmia	Bicuspid aortic valve, Left atrial enlargement, Pulmonic stenosis, Decreased body weight, Failure...	OMIM:616201
Cockayne Syndrome A	Tremor, Ivory epiphyses of the phalanges of the hand, Loss of facial adipose tissue, Hepatomegaly...	OMIM:216400
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Premature ovarian insufficiency, Cataract, Congenital hepati...	ORPHA:3156
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility	ORPHA:488191
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Mosaic Trisomy 9	Corneal opacity, Camptodactyly of finger, Ventricular septal defect, Dextrocardia, Asplenia, Cryp...	ORPHA:99776
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Failure to thrive, Decreased circu...	OMIM:203400
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Abnormal clavicle morphology, Cataract, Ventricular septal defect, Abnormal rib morp...	ORPHA:93267
Metatropic Dysplasia	Low-set, posteriorly rotated ears, Cataract, Camptodactyly of finger, Abnormal enchondral ossific...	ORPHA:2635
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Menorrh...	OMIM:231200
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality of iron homeo...	ORPHA:848
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620126
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu...	OMIM:314050
Histiocytoid Cardiomyopathy	Hepatomegaly, Corneal opacity, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Optic atrop...	ORPHA:137675
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Joint laxity, 11 pairs of ribs, Atrial septal defect, Bicuspid aortic valve, Ventricular septal d...	OMIM:271640
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Retinal detachment, Catarac...	ORPHA:93296
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Bicuspid aortic valve	ORPHA:397951
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism, Inguinal hernia, Decreased cirrculating antimullerian...	OMIM:261550
Linear Verrucous Nevus Syndrome	Cataract, Reduced bone mineral density, Abnormal cornea morphology, Hypophosphatemia, Iris coloboma	ORPHA:2611
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Inguinal hernia, Lens coloboma, Cupped ear, Umbilical hernia, Joint contracture of the 4th finger...	OMIM:618914
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620125
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Low-set, posteriorly rotated ears, Cataract, Ventricular septal defect, Recurrent fractures, Cryp...	ORPHA:2772
Aortic Aneurysm, Familial Thoracic 12	Bicuspid aortic valve, Pectus excavatum, Ascending tubular aorta aneurysm, Aortic root aneurysm, ...	OMIM:619825
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Decreased motor nerve conduction velocity, Hepatomegaly, Failure to thrive, Diabetes mellitus, Fo...	ORPHA:456312
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Porphyria Variegata	Elevated hepatic transaminase, Hyponatremia, Scarring, Abnormal circulating porphyrin concentrati...	ORPHA:79473
Japanese Encephalitis	Hyponatremia, Decreased motor nerve conduction velocity, Neutrophilia, Stiff neck, Facial palsy, ...	ORPHA:79139
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Brittle Cornea Syndrome 2	Keratoconus, Inguinal hernia, Flat cornea, Recurrent fractures, Sclerocornea, Keratoglobus, Umbil...	OMIM:614170
Isochromosomy Yp	Male infertility, Azoospermia, Primary gonadal insufficiency, Decreased testicular size	ORPHA:98797
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Failure to thrive, Villous atrophy, Ileus	OMIM:304790
Mucopolysaccharidosis Type 7	Inguinal hernia, Corneal opacity, Joint stiffness, Splenomegaly, Hepatitis, Epiphyseal stippling,...	ORPHA:584
Vici Syndrome	Atrial septal defect, Failure to thrive, Cataract, Left ventricular hypertrophy, Elevated circula...	OMIM:242840
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology	ORPHA:3032
Fabry Disease	Conjunctival telangiectasia, Abnormal endocardium morphology, Cataract, Corneal opacity, Corneal ...	ORPHA:324
X Small Rings	Joint laxity, Premature ovarian insufficiency, Bicuspid aortic valve, Ventricular septal defect, ...	ORPHA:96201
Martsolf Syndrome 2	Cataract, Hypogonadotropic hypogonadism, Camptodactyly of finger, Developmental cataract, Decreas...	OMIM:619420
Partial Atrioventricular Septal Defect	Transient ischemic attack, Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventri...	ORPHA:1330
Mohr-Tranebjaerg Syndrome	Tremor, Postlingual sensorineural hearing impairment, Increased susceptibility to fractures, Dyst...	OMIM:304700
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Ventricular septa...	OMIM:208085
Hyperkalemic Periodic Paralysis	Hyponatremia, Elevated circulating creatine kinase concentration, Flexion contracture, Hyperkalem...	ORPHA:682
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Cryptorchidism, Jaundi...	OMIM:214110
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Aortic valve stenosis, Bicuspid aortic valve	OMIM:615599
Meacham Syndrome	Accessory spleen, Atrial septal defect, Bicuspid aortic valve, Aplasia of the right hemidiaphragm...	OMIM:608978
Corneal Dystrophy And Perceptive Deafness	Sensorineural hearing impairment, Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Cranioectodermal Dysplasia 1	Joint laxity, Hepatomegaly, Inguinal hernia, Bicuspid aortic valve, Malformation of the hepatic d...	OMIM:218330
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cataract, Hypergonadotropic hypogonadism, Cryptorchidism, Sensorineural hearing impairment, Hyper...	ORPHA:3085
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Macrot...	OMIM:241200
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Thoracic scoliosis, Widened atrophic scar, Distal joint laxity, Generalized joint lax...	ORPHA:1900
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Pectus ca...	OMIM:613795
Ogden Syndrome	Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic...	OMIM:300855
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Neoplasm of the pancreas, Elevated hepatic transaminase, Premature ovarian insufficie...	ORPHA:2959
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Hurler Syndrome	Hepatomegaly, Inguinal hernia, Corneal opacity, Joint stiffness, Splenomegaly, Cranial hyperostos...	OMIM:607014
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Mucolipidosis Iii Gamma	Increased serum beta-hexosaminidase, Joint stiffness, Pectus carinatum, Abnormal rib cage morphol...	OMIM:252605
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Hyperkalem...	ORPHA:90790
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Sjogren-Larsson Syndrome	Retinal pigment epithelial atrophy, Opacification of the corneal epithelium, Flexion contracture,...	OMIM:270200
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Cataract, Failure to thrive in infancy, Microcytic anemia, Elevated circulating ala...	OMIM:618805
Focal Dermal Hypoplasia	Acute hepatic failure, Congenital diaphragmatic hernia, Hypoplasia of the iris, Chorioretinal col...	ORPHA:2092
Multiple Sulfatase Deficiency	Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Joint stiffness, Sp...	ORPHA:585
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Cerebral arteriovenous malformation, Lens colobom...	ORPHA:42775
Legionnaires Disease	Hyponatremia, Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Celluli...	ORPHA:549
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Sensorineural hearing impairment, Immotile sperm	OMIM:608653
Diamond-Blackfan Anemia 11	Bicuspid aortic valve, Anemia of inadequate production, Radioulnar synostosis, Atresia of the ext...	OMIM:614900
Kleefstra Syndrome	Bicuspid aortic valve, Ventricular septal defect, Tracheomalacia, Cryptorchidism, Pulmonary arter...	ORPHA:261494
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,...	ORPHA:231222
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma, Hypogonadotropic hypogonadism, Decreased fertility, Secondar...	ORPHA:1643
Mucopolysaccharidosis Type 4	Corneal opacity, Abnormal dental enamel morphology, Abnormal heart valve morphology, Grayish enam...	ORPHA:582
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Corneal crystals, Glyc...	ORPHA:411634
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Pseudohypoparathyroidism, Type Ia	Cataract, Osteoporosis, Pseudohypoparathyroidism, Obesity, Subcutaneous ossification, Hypogonadis...	OMIM:103580
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia, Hypoglycemia, Secundum atrial septal defect, Optic atrophy, Low-set ears	OMIM:608688
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Congenital diaphragmatic hernia, Pectus excavatum, Patent ductus arteriosu...	ORPHA:2847
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Pectus excavatum, Microspherophakia, Deep anterior chamber, Buphtha...	OMIM:251750
Cockayne Syndrome B	Tremor, Ivory epiphyses of the phalanges of the hand, Microcornea, Hypoplasia of the iris, Loss o...	OMIM:133540
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Bicuspid aortic valve, Atrial septal defect, Patent foramen ovale, Hypothyroidism, Jo...	ORPHA:438213
45,X/46,Xy Mixed Gonadal Dysgenesis	Male infertility, Low-set, posteriorly rotated ears, Streak ovary, Unilateral cryptorchidism, Bic...	ORPHA:1772
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Weight loss, Failu...	OMIM:619377
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions	OMIM:217800
Williams-Beuren Syndrome	Osteopenia, Bicuspid aortic valve, Flexion contracture, Early onset of sexual maturation, Glucose...	OMIM:194050
Ravine Syndrome	Failure to thrive, Abnormal auditory evoked potentials, Decreased body weight	ORPHA:99852
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Radioulnar synostosis, Abnormal rib morphology, Pectus carinatum	ORPHA:3268
Leukodystrophy, Hypomyelinating, 24	Decreased motor nerve conduction velocity, Cataract, Flexion contracture, B lymphocytopenia, Hypo...	OMIM:619851
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Cataract, Dystonia, Splenomegaly, Jaundice, Patent d...	OMIM:251290
Schimke Immunoosseous Dysplasia	Osteopenia, Pancytopenia, Small for gestational age, Transient ischemic attack, Bilateral cryptor...	OMIM:242900
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ...	ORPHA:529970
Premature Aging Syndrome, Penttinen Type	Prominent superficial veins, Flexion contracture of finger, Corneal opacity, Lipoatrophy, Recurre...	OMIM:601812
Flynn-Aird Syndrome	Cataract, Cachexia, Joint stiffness, Abnormality of the thyroid gland, Bone cyst, Primary adrenal...	ORPHA:2047
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Cardiomegaly, Flexion contracture, Reduced bone mineral density, Th...	ORPHA:581
Neuraminidase Deficiency	Hepatomegaly, Inguinal hernia, Cataract, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Sens...	OMIM:256550
Scheie Syndrome	Aortic valve stenosis, Corneal opacity, Retinal degeneration	OMIM:607016
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Elevated circulating thyroid-stimulating horm...	OMIM:618183
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Asplenia, Posterior rib fusion, Atrial septal defe...	OMIM:265380
Renpenning Syndrome	Decreased testicular size, Diabetes mellitus, Cataract, Cachexia, Joint stiffness, Pectus excavat...	ORPHA:3242
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Occipital encephalocele, Cataract, Corneal opacity, Optic nerve hypoplasia, E...	OMIM:236670
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Corneal opacity, Recurrent fractures, Precocious puberty, Coloboma, Hypophosphatemic ...	OMIM:163200
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Dysmenorrhea, Increased body weight, Hepatic ...	ORPHA:264580
Aortic Valve Disease 3	Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A...	OMIM:618496
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
Dubowitz Syndrome	Inguinal hernia, Aplastic anemia, Cryptorchidism, Protruding ear, Acute lymphoblastic leukemia, H...	OMIM:223370
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Low-set ears, Thrombocytopenia, Patent ductus arteriosus, Increased mean platelet volume	OMIM:300048
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Carpenter Syndrome 1	Microcornea, Conductive hearing impairment, Atrial septal defect, Spina bifida occulta, Sagittal ...	OMIM:201000
Primary Ciliary Dyskinesia	Male infertility, Atrial situs ambiguous, Abnormal atrial arrangement, Female infertility, Asplen...	ORPHA:244
Bartter Syndrome Type 4	Hyponatremia, Small for gestational age, Protruding ear, Hypochloremia, Hypokalemia, Hyperaldoste...	ORPHA:89938
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Thickened helices, Conductive hearing impairment, Atrial septal defect, Hy...	OMIM:607872
Alg3-Cdg	Osteopenia, Cataract, Abnormal pinna morphology, Lipodystrophy, Abnormality of the endocrine syst...	ORPHA:79321
Wolfram Syndrome 1	Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Cataract, Megaloblastic anemia, Trem...	OMIM:222300
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Pectus carin...	OMIM:610168
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Elevated circulating creatine kinase concentration, Female infer...	OMIM:619518
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Decreased circulating plasmalogen concentration, Cataract, Inguinal hernia, Optic ner...	OMIM:222765
Microcephalic Primordial Dwarfism, Toriello Type	Enamel hypoplasia, Cataract, Abnormal rib morphology, Neutropenia	ORPHA:2643
Slc35A1-Cdg	Giant platelets, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia	ORPHA:238459
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Villous atrophy, Inflammation of the large intestine, Colitis, Failure to thrive	OMIM:614700
Bleeding Disorder, Platelet-Type, 21	Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Menorrhagia, Impaired ...	OMIM:617443
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Facial palsy, Generalized osteosclerosis, Sensorineural hearing impair...	ORPHA:2790
Autosomal Recessive Cutis Laxa Type 2A	Inguinal hernia, Corneal opacity, Increased susceptibility to fractures, Athetosis, Abnormal corn...	ORPHA:357058
Cerebrotendinous Xanthomatosis	Osteopenia, Precocious atherosclerosis, Thoracic kyphosis, Juvenile cataract, Hypothyroidism, Ost...	ORPHA:909
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Joint laxity, Atrial septal defect, Bicuspid aortic valve, Optic nerve hypoplasia, Cr...	ORPHA:453504
H Syndrome	Histiocytosis, Hypertriglyceridemia, Diabetes mellitus, Lipodystrophy, Hearing impairment, Microc...	ORPHA:168569
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma	OMIM:608470
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Joint laxity, Atrial septal defect, Bicuspid aortic valve, Optic nerve hypoplasia, Cr...	ORPHA:352665
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Cataract, Elevated circulating creatine kina...	ORPHA:79095
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Aganglionic megacolon, Bicuspid aortic valve, Ventricular septal defect, Aspl...	ORPHA:210122
Congenital Short Bowel Syndrome	Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con...	OMIM:615237
Spermatogenic Failure, X-Linked, 6	Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai...	OMIM:301101
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Tortuous cerebral arteries, Joint laxity, Corneal opacity, Protruding ear, Developmen...	OMIM:616603
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Generalized joint laxity, Flexion contracture, Pectus ca...	ORPHA:536471
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Coarcta...	ORPHA:3092
Peroxisome Biogenesis Disorder 7A (Zellweger)	Hepatomegaly, Cataract, Posteriorly rotated ears, Elevated circulating hexacosanoic acid concentr...	OMIM:614872
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Brachyolmia Type 1, Toledo Type	Precocious costochondral ossification, Opacification of the corneal stroma	OMIM:271630
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Optic Atrophy 8	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s...	OMIM:616648
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile...	OMIM:619079
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Tremor, Protruding ear, Atrial septal defect, Simple ear, Joint laxity, Su...	OMIM:612474
Alpha-Mannosidosis, Infantile Form	Osteopenia, Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Mixed hearing impairment,...	ORPHA:309282
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Galactose Mutarotase Deficiency	Hepatomegaly, Cataract, Cholestasis, Hypergalactosemia, Decreased liver function, Failure to thrive	ORPHA:570422
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal...	ORPHA:2041
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Astigmatism, Abnormal auditory evoked potentials	OMIM:617523
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Hepatomegaly, Elevated circulating creatine kinase concentration, Optic neuropathy,...	OMIM:610505
Sarcoidosis	Increased T cell count, Leukopenia, Hypothyroidism, Hepatomegaly, Hemolytic anemia, Hyperthyroidi...	ORPHA:797
Oculocerebral Hypopigmentation Syndrome, Cross Type	Inguinal hernia, Cataract, Corneal opacity, Cryptorchidism, Sensorineural hearing impairment, Lim...	ORPHA:2719
Trisomy 13	Atrial septal defect, Cataract, Anophthalmia, Ventricular septal defect, Cryptorchidism, Patent d...	ORPHA:3378
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Corneal opacity, Abnormal heart valve morphology, Spatulate ribs, Joint stiffness, ...	OMIM:253220
Smith-Lemli-Opitz Syndrome	Hypoalbuminemia, Hypocholesterolemia, Atrial septal defect, Hepatic steatosis, Hepatomegaly, Prec...	OMIM:270400
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormally...	OMIM:109120
Mucopolysaccharidosis Type 2	Abnormal tricuspid valve morphology, Conductive hearing impairment, Retinal degeneration, Hepatom...	ORPHA:580
Mandibulofacial Dysostosis With Alopecia	Bicuspid aortic valve, Cupped ear, Protruding ear, Microtia, Low-set ears, Conductive hearing imp...	OMIM:616367
Hypogonadism-Cataract Syndrome	Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Mal...	OMIM:240950
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Cataract, Peripheral retinal dege...	ORPHA:168549
Maturity-Onset Diabetes Of The Young, Type 14	Elevated hemoglobin A1c	OMIM:616511
Autoimmune Hypoparathyroidism	Increased bone mineral density, Cataract, Autoimmune hypoparathyroidism, Hyperphosphatemia, Conju...	ORPHA:36913
Infant Botulism	Hyponatremia, Keratoconjunctivitis sicca, Mydriasis	ORPHA:178478
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Hyperthyroidism, Corneal opacity, Decreased response to growth hormone stimulat...	ORPHA:488632
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Ruijs-Aalfs Syndrome	Thoracic kyphoscoliosis, Cataract, Lipodystrophy, Down-sloping shoulders, Hepatocellular carcinom...	OMIM:616200
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Cataract, Anemia, Hepatosplenomegaly	OMIM:273680
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Craniodiaphyseal Dysplasia	Conductive hearing impairment, Craniofacial hyperostosis, Abnormal rib morphology, Optic atrophy	ORPHA:1513
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Joint laxity, Juvenile myelomonocytic leukemia, Posteriorly rotated ears, Bicuspid aortic valve, ...	OMIM:613563
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci...	OMIM:207750
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Sensorineural hearing impairment, Hypochloremia, Hypokalemia, Hyp...	OMIM:602522
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Small for gestational age, Cor pulmonale, Macronodular cirrhosis, Abnormal T cell morphology, Opa...	OMIM:215250
Propionic Acidemia	Hepatomegaly, Pancytopenia, Dystonia, Hypoglycemia, Thrombocytopenia, Cerebellar hemorrhage, Oste...	OMIM:606054
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Colchicine Poisoning	Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo...	ORPHA:31824
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Abnormal circulating aldos...	OMIM:300539
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Joint laxity, Atrial septal defect, Cataract, Bicuspid aortic valve, Ventricular septal defect, C...	ORPHA:353281
Werner Syndrome	Abnormal cerebral vascular morphology, Thyroid carcinoma, Increased bone mineral density, Pulmona...	ORPHA:902
Scheie Syndrome	Hepatomegaly, Corneal opacity, Joint stiffness, Splenomegaly, Sensorineural hearing impairment, L...	ORPHA:93474
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Hutchinson-Gilford Progeria Syndrome	Osteoarthritis, Reduced bone mineral density, Intracranial hemorrhage, Conductive hearing impairm...	ORPHA:740
Aorta Coarctation	Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Atypical Werner Syndrome	Sclerosis of hand bone, Abnormal cerebral vascular morphology, Fasting hyperinsulinemia, Reduced ...	ORPHA:79474
Cutis Laxa, Autosomal Recessive, Type Iiia	Inguinal hernia, Cataract, Joint hypermobility, Pectus excavatum, Cryptorchidism, Macrotia, Low p...	OMIM:219150
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Chromosome 6Pter-P24 Deletion Syndrome	Joint laxity, Atrial septal defect, Posteriorly rotated ears, Ventricular septal defect, Pectus e...	OMIM:612582
Mucopolysaccharidosis Type 1	Inguinal hernia, Corneal opacity, Abnormal heart valve morphology, Joint stiffness, Splenomegaly,...	ORPHA:579
Peroxisome Biogenesis Disorder 1A (Zellweger)	Adrenal hypoplasia, Intrahepatic biliary dysgenesis, Hepatomegaly, Brushfield spots, Cryptorchidi...	OMIM:214100
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Inguinal hernia...	OMIM:608022
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Hurler Syndrome	Hepatomegaly, Abnormal clavicle morphology, Corneal opacity, Camptodactyly of finger, Abnormal he...	ORPHA:93473
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Low-set, posteriorly rotated ears, Inguinal hernia, Increased mean platelet volume, Abnormality o...	ORPHA:487796
Oculocerebrocutaneous Syndrome	Corneal opacity, Congenital diaphragmatic hernia, Missing ribs, External ear malformation, Crypto...	ORPHA:1647
Peroxisome Biogenesis Disorder 5A (Zellweger)	Conjugated hyperbilirubinemia, Atrial septal defect, Intrahepatic biliary dysgenesis, Hepatomegal...	OMIM:614866
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormality of the spleen, Hepatic fibrosis, Bacterial endocarditis, Papilledema, Hepatosplenomeg...	ORPHA:2072
Arthrogryposis, Distal, Type 2A	Hip contracture, Inguinal hernia, Flexion contracture of finger, Small for gestational age, Shoul...	OMIM:193700
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Al-Gazali Syndrome	Osteopenia, Proximal radio-ulnar synostosis, Corneal opacity, Recurrent fractures, Sclerocornea, ...	OMIM:609465
Post-Traumatic Pituitary Deficiency	Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,...	ORPHA:95619
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Infantile Refsum Disease	Hepatomegaly, Cataract, Facial palsy, Sensorineural hearing impairment, Optic atrophy, Elevated c...	ORPHA:772
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Posteriorly rotated ears, Bicuspid aortic valve, Limited elbow movement, Ventricular septal defec...	OMIM:610759
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Villous atrophy, Failure to thrive in infancy	OMIM:606367
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Joint laxity, Thoracic aortic aneurysm, Bicuspid aortic valve, Pectus excav...	OMIM:617168
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Small for gestational age, Bicuspid aortic valve, Mitral atresia, Hypoglycemia, ...	OMIM:220111
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Pseudohypoparathyroidism Type 1B	Calcinosis, Increased bone mineral density, Cataract, Decreased response to growth hormone stimul...	ORPHA:94089
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Hypocalcemia, Hepatomegaly, Increased bone mineral density, Facial ...	OMIM:259720
Mevalonic Aciduria	Elevated hepatic transaminase, Optic disc pallor, Normocytic hypoplastic anemia, Cataract, Failur...	OMIM:610377
Hereditary Bullous Dystrophy, Macular Type	Cryptorchidism, Cataract, Corneal opacity, Decreased testicular size	ORPHA:1867
Proteus-Like Syndrome	Retinal detachment, Thymus hyperplasia, Cataract, Venous insufficiency, Splenomegaly, Abnormality...	ORPHA:2969
Microphthalmia With Brain And Digit Anomalies	Cataract, Sclerocornea, Cryptorchidism, Sensorineural hearing impairment, Microcornea, Chorioreti...	ORPHA:139471
Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Adrenal i...	ORPHA:427
Distal Deletion 15Q	Decreased serum insulin-like growth factor 1, Small for gestational age, Bicuspid aortic valve, C...	ORPHA:1596
Osteogenesis Imperfecta	Osteopenia, Osteoarthritis, Flexion contracture, Pectus carinatum, Narrow chest, Decreased skull ...	ORPHA:666
Fucosidosis	Hepatomegaly, Corneal opacity, Lipoatrophy, Cardiomegaly, Abnormality of the gallbladder, Failure...	ORPHA:349
Congenital Disorder Of Deglycosylation 1	Elevated hepatic transaminase, Hepatomegaly, Dilation of Virchow-Robin spaces, Corneal opacity, E...	OMIM:615273
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Thoracic scoliosis, Widened atrophic scar, Prominent veins on trunk, Shoulder disloca...	ORPHA:536532
Genetic Hyperferritinemia Without Iron Overload	Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat...	ORPHA:254704
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Frontometaphyseal Dysplasia 2	Hip contracture, Abnormal pinna morphology, Elbow contracture, Bicuspid aortic valve, Pectus exca...	OMIM:617137
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, L...	OMIM:310600
Chromosome 1P36 Deletion Syndrome, Proximal	Posteriorly rotated ears, Bicuspid aortic valve, Ventricular septal defect, Complete atrioventric...	OMIM:619343
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Hip contracture, Peripheral opacification of the cornea, Corneal opacity, Interphalan...	OMIM:259600
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Optic disc pallor, Cataract, Ventricular septal defect, Cryptorchidism, Neonatal de...	OMIM:613730
Alagille Syndrome 1	Microcornea, Papillary thyroid carcinoma, Atrial septal defect, Abnormal anterior chamber morphol...	OMIM:118450
Trichorhinophalangeal Syndrome, Type Ii	Osteopenia, Inguinal hernia, Internal carotid artery dissection, Scapular winging, Bicuspid aorti...	OMIM:150230
Ciliary Dyskinesia, Primary, 37	Dextrocardia, Female infertility, Goiter, Situs inversus totalis, Right aortic arch, Hypothyroidi...	OMIM:617577
Hurler-Scheie Syndrome	Hepatomegaly, Inguinal hernia, Corneal opacity, Camptodactyly of finger, Joint stiffness, Splenom...	OMIM:607015
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, Macular atrophy, Cupped ri...	ORPHA:85167
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hypokalemia, Cataract, Hyperamylasemia, Band keratopathy	OMIM:604278
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Short Syndrome	Joint laxity, Rieger anomaly, Cataract, Small for gestational age, Prominent superficial veins, I...	OMIM:269880
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Incontinentia Pigmenti	Retinal detachment, Cataract, Corneal opacity, Eosinophilia, Abnormal dental enamel morphology, C...	ORPHA:464
Immunodeficiency 31C	Villous atrophy, Weight loss, Gastrointestinal eosinophilia, Protein-losing enteropathy, Intussus...	OMIM:614162
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Coloboma, Atrial septal defect, Conductive hearing impairment, Patent fora...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Coloboma, Atrial septal defect, Conductive hearing impairment, Patent fora...	ORPHA:353277
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Cataract, Corneal opacity, Abnormality of cartilage of external ear, Cupped e...	ORPHA:2399
Mietens Syndrome	Cataract, Corneal opacity, Sclerocornea, Joint stiffness, Microcornea, Elbow ankylosis	ORPHA:2557
Bartsocas-Papas Syndrome 2	Corneal opacity, Antecubital pterygium, Popliteal pterygium, Low-set ears, Overfolded helix, Axil...	OMIM:619339
Chondrodysplasia Punctata 1, X-Linked Recessive	Epiphyseal stippling, Cataract, Hypogonadism, Hearing impairment	OMIM:302950
Gm1-Gangliosidosis, Type Iii	Foam cells, Opacification of the corneal stroma, Dystonia	OMIM:230650
Microphthalmia, Syndromic 3	Optic nerve aplasia, Vertebral fusion, Cataract, Hypogonadotropic hypogonadism, Optic nerve hypop...	OMIM:206900
Abcd Syndrome	Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte...	OMIM:600501
Transketolase Deficiency	Hepatomegaly, Atrial septal defect, Cataract, Ventricular septal defect, Abnormal coronary artery...	ORPHA:488618
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Bicuspid aortic valve, Pectus excavatum, Patent ductus arteriosus, Mitral valve prolapse, Joint h...	ORPHA:555877
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Generalized dystonia, Tremor, Sensorineural hearing impairme...	ORPHA:52368
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cramp, Facial palsy, Tre...	OMIM:128100
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Dysbetalipoproteinemia	Accelerated atherosclerosis, Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentr...	ORPHA:412
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating cortisol level, Conductive hearing impairment, Simple ear, Hyponatremia, De...	OMIM:201750
Hypoparathyroidism, Familial Isolated, 1	Hypoparathyroidism, Cataract, Decreased circulating parathyroid hormone level, Hyperphosphatemia,...	OMIM:146200
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Dilation of Virchow-Robin spaces, Corneal opacity, Elevated circulating creatin...	OMIM:175780
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ob...	ORPHA:261529
Venous Malformations, Multiple Cutaneous And Mucosal	Venous malformation	OMIM:600195
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79443
Congenital Disorder Of Glycosylation, Type Ij	Cataract, Tremor, Cryptorchidism, Flexion contracture, Hypsarrhythmia, Hypoproteinemia	OMIM:608093
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro...	ORPHA:2334
Isochromosomy Yq	Male infertility, Azoospermia, Primary gonadal insufficiency, Decreased testicular size	ORPHA:98798
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol...	ORPHA:98973
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Conductive hearing impa...	ORPHA:217085
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Cu...	OMIM:110100
Cholera	Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Stroke, Hypocalcemia	ORPHA:173
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop...	OMIM:604229
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Small for gestational age, Bicuspid aortic valve, Hypoglycemia, EEG abnormality, Umbilical hernia...	OMIM:614501
Sponastrime Dysplasia	Joint laxity, Cataract, Small for gestational age, Precocious puberty, Delayed epiphyseal ossific...	ORPHA:93357
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Posteriorly rotated ears, Corneal opacity, Keratitis, Microtia, Conjunctivitis	OMIM:602562
Cat-Eye Syndrome	Abnormal rib morphology, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Hearing impairment	ORPHA:195
Hypophosphatasia	Failure to thrive in infancy, Recurrent fractures, Hypercalcemia, Craniosynostosis, Abnormal rib ...	ORPHA:436
Carpenter Syndrome	Craniosynostosis, Cryptorchidism, Patent ductus arteriosus, Obesity, Abnormal cornea morphology, ...	ORPHA:65759
Fontaine Progeroid Syndrome	Reduced subcutaneous adipose tissue, Atrial septal defect, Prominent superficial veins, Small for...	OMIM:612289
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Cataract, Posteriorly rotated ears, Congenital sensorineural hear...	OMIM:617306
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Corneal opacity, Lipodystrophy, Bone cyst, Osteolysis, Coarctation of ...	ORPHA:2396
3Q29 Microduplication Syndrome	Cataract, Ventricular septal defect, Sclerocornea, Craniosynostosis, Camptodactyly of toe, Obesit...	ORPHA:251038
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating creatine kinase concentration, Cardiomegaly, Knee flexion contracture, Macro...	OMIM:608836
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Conductive hearing impa...	ORPHA:217093
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased mitochondrial number, Protein-losing enteropathy	OMIM:619063
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ...	ORPHA:90793
Encephalocraniocutaneous Lipomatosis	Atrial septal defect, Subcutaneous lipoma, Ventricular septal defect, Sclerocornea, Cryptorchidis...	OMIM:613001
Mosaic Trisomy 14	Low-set, posteriorly rotated ears, Camptodactyly of finger, Cryptorchidism, Abnormal rib morpholo...	ORPHA:1703
Mend Syndrome	Cataract, Abnormal auditory evoked potentials, Cryptorchidism, Elevated 8-dehydrocholesterol, Ele...	ORPHA:401973
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Uplifted earlobe, Asplenia, Abnormal pupil morphology, Flexion contracture...	ORPHA:261552
Aortic Valve Disease 2	Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As...	OMIM:614823
Thrombocytopenia-Absent Radius Syndrome	Atrial septal defect, Cataract, Corneal opacity, Eosinophilia, Ventricular septal defect, Spina b...	OMIM:274000
8Q21.11 Microdeletion Syndrome	Cataract, Corneal opacity, Camptodactyly of finger, Sclerocornea, Hearing impairment, Cryptorchid...	ORPHA:284160
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Joint laxity, Small for gestational age, Bicuspid aortic valve, Craniosynostosis, Valvular pulmon...	OMIM:300707
Premature Aging Syndrome, Okamoto Type	Diabetes mellitus, Abnormal pinna morphology, Cataract, Osteoporosis, Low-set ears	OMIM:601811
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Peritonitis, Leukocytosis, Elevated circulating creatinine concent...	ORPHA:90038
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Loeys-Dietz Syndrome 1	Joint laxity, Atrial septal defect, Bicuspid aortic valve, Craniosynostosis, Arterial tortuosity,...	OMIM:609192
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Premature Ovarian Failure 6	Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi...	OMIM:612310
Fryns Syndrome	Low-set, posteriorly rotated ears, Omphalocele, Aganglionic megacolon, Corneal opacity, Congenita...	ORPHA:2059
Atrial Septal Defect 9	Secundum atrial septal defect, Bicuspid aortic valve	OMIM:614475
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Corneal arcus, Joint contrac...	OMIM:602782
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulati...	OMIM:612852
Pearson Marrow-Pancreas Syndrome	Villous atrophy, Small for gestational age, Malabsorption, Steatorrhea, Failure to thrive	OMIM:557000
Mosaic Trisomy 8	Corneal opacity, Abnormal pinna morphology, Camptodactyly of finger, Cryptorchidism, Limitation o...	ORPHA:96061
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Pmm2-Cdg	Osteopenia, Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concent...	ORPHA:79318
Adams-Oliver Syndrome	Encephalocele, Cataract, Abnormal pulmonary valve morphology, Portal hypertension, Congenital hep...	ORPHA:974
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Uplifted earlobe, Asplenia, Flexion contracture, Pectus carinatum, Iris co...	ORPHA:261537
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Anophthalmia, Ventricular septal defect, Sclerocornea, Cryptorchidism, Patent d...	ORPHA:77298
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Cataract, Primary adrenal insufficiency, Abnormal circul...	ORPHA:3453
Mosaic Variegated Aneuploidy Syndrome	Low-set, posteriorly rotated ears, Cataract, Corneal opacity, Osteolysis, Coarctation of aorta, A...	ORPHA:1052
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Corneal opacity, Scarring, Craniosynostosis, Atrophic scars, Hypoalbuminemia, Enamel hypoplasia, ...	ORPHA:79396
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Pseudohypoparathyroidism Type 1C	Calcinosis, Increased bone mineral density, Cataract, Hypergonadotropic hypogonadism, Decreased r...	ORPHA:79444
Huntington Disease-Like 1	Abnormal shoulder morphology, EEG abnormality, Abnormal posturing, Weight loss	ORPHA:157941
Mogs-Cdg	Hepatomegaly, Absent brainstem auditory responses, Thoracic scoliosis, Atrial septal defect, Card...	ORPHA:79330
Mowat-Wilson Syndrome	Bicuspid aortic valve, Uplifted earlobe, Asplenia, Flexion contracture, Pectus carinatum, Conduct...	ORPHA:2152
Premature Ovarian Failure 20	Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic...	OMIM:619938
Cardiomyopathy, Dilated, 1Ii	Cataract, Elevated circulating creatine kinase concentration	OMIM:615184
Robinow Syndrome, Autosomal Recessive 2	Ventral hernia, Omphalocele, Posteriorly rotated ears, Bicuspid aortic valve, Low-set ears, Campt...	OMIM:618529
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ...	OMIM:300845
Mucopolysaccharidosis, Type Iva	Joint laxity, Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Grayish enamel, Ost...	OMIM:253000
Triploidy	Low-set, posteriorly rotated ears, Hepatomegaly, Omphalocele, Cataract, Cryptorchidism, Abnormali...	ORPHA:3376
Chime Syndrome	Corneal opacity, Ventricular septal defect, Aplastic clavicle, Pulmonary valve atresia, Osteolysi...	ORPHA:3474
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Tremor,...	ORPHA:3455
Hunter-Macdonald Syndrome	Inguinal hernia, Bicuspid aortic valve, Patent ductus arteriosus, Sensorineural hearing impairmen...	OMIM:611962
Mucolipidosis Iii Alpha/Beta	Increased serum beta-hexosaminidase, Hyperopic astigmatism, Craniosynostosis, Short ribs, Opacifi...	OMIM:252600
Ichthyosis, X-Linked	Cryptorchidism, Testicular neoplasm, Opacification of the corneal stroma	OMIM:308100
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Developmental glaucoma, Corneal opacity, Craniosynostosis	ORPHA:1064
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis, Mitral atresia, Aortic valve c...	OMIM:109730
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Generalized dystonia, Increased susceptibility to fractures, Weight loss, Pigm...	ORPHA:216866
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne...	ORPHA:699
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked...	ORPHA:99027
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Optic disc pallor, Flexion contracture of finger, Retinal detachment, Small for gestational age, ...	ORPHA:464311
Secondary Intestinal Lymphangiectasia	Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Cirrhosis, Hypochole...	ORPHA:90363
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Brain abscess, Diabetes mellitus, Myocarditis, Leukocytosis, Hype...	ORPHA:544482
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Inguinal hernia, Corneal opacity, Joint stiffness, Splenomegaly, Flexion contractur...	OMIM:253200
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote...	ORPHA:320401
Mandibuloacral Dysplasia With Type A Lipodystrophy	Cataract, Hyperlipidemia, Flexion contracture, Limitation of joint mobility, Osteolysis, Insulin ...	ORPHA:90153
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S...	OMIM:616950
Livedoid Vasculopathy	Pancytopenia, Diabetes mellitus, Abnormal capillary morphology, Abnormality of the peripheral ner...	ORPHA:542643
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone...	OMIM:108420
Premature Ovarian Failure 13	Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Female infertility, Amen...	OMIM:617442
Mucolipidosis Type Iv	EEG abnormality, Corneal opacity, Abnormality of retinal pigmentation	ORPHA:578
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a...	ORPHA:1215
Oculomaxillofacial Dysostosis	Aplasia/Hypoplasia affecting the eye, Corneal opacity, Camptodactyly of finger	ORPHA:1794
Mucopolysaccharidosis Type 6	Abnormal heart valve morphology, Joint stiffness, Splenomegaly, Hernia, Opacification of the corn...	ORPHA:583
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Retinal detachment, Exaggerated startle response, Cataract, Elevated circulating c...	OMIM:253800
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Septo-optic dysplasia, Cataract, Missing ribs, Cryptorchidism, Opt...	ORPHA:3301
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Dyggve-Melchior-Clausen Disease	Corneal opacity, Glenoid fossa hypoplasia, Horizontal inferior border of scapula, Short thorax, P...	ORPHA:239
Wagro Syndrome	Cataract, Corneal opacity, Obesity, Low-set ears, Aniridia, Decreased testicular size	OMIM:612469
Cartilage-Hair Hypoplasia	Pectus carinatum, Hypocalcemia, Narrow chest, Neutropenia, Abnormal bone ossification, Low-set, p...	ORPHA:175
Thymic Neuroendocrine Tumor	Osteopenia, Hypercalcemia, Pancreatic islet cell adenoma, Pituitary null cell adenoma, Neoplasm o...	ORPHA:97289
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se...	OMIM:601455
Osteopathia Striata-Cranial Sclerosis Syndrome	Increased bone mineral density, Cataract, Posteriorly rotated ears, Facial palsy, Coarctation of ...	ORPHA:2780
Familial Isolated Hypoparathyroidism	Hypoparathyroidism, Cataract, Abnormal dental enamel morphology, Abnormal circulating calcium-pho...	ORPHA:2238
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Thyroid carcinoma, Patchy reduction of bone mineral density, Cortic...	ORPHA:249
Cardiac Valvular Dysplasia 2	Bicuspid aortic valve, Ascending tubular aorta aneurysm, Pulmonic stenosis, Subvalvular aortic st...	OMIM:620067
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Low-set ears, Microphthalmia, Oc...	OMIM:615145
Alagille Syndrome	Keratoconus, Hepatomegaly, Ventricular septal defect, Corneal dystrophy, Cryptorchidism, Abnormal...	ORPHA:52
Multiple Sulfatase Deficiency	Hepatomegaly, Corneal opacity, Splenomegaly, Retinal degeneration, Hearing impairment	OMIM:272200
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenit...	ORPHA:731
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Protruding ear, Microcornea, Keratoconjunctivitis sicc...	ORPHA:1806
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs...	OMIM:226990
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Abnormal rib morphology, Abnormal tricuspid valv...	ORPHA:1354
Alpha-Heavy Chain Disease	Abnormal small intestine morphology, Malabsorption	ORPHA:100025
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-s...	OMIM:201810
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Elevated circul...	OMIM:619644
Larsen Syndrome	Joint laxity, Vertebral fusion, Atrial septal defect, Corneal opacity, Ventricular septal defect,...	OMIM:150250
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Corneal...	ORPHA:91495
Gorlin-Chaudhry-Moss Syndrome	Sclerocornea, Patent ductus arteriosus, Astigmatism, Conductive hearing impairment, Umbilical her...	ORPHA:2095
Lipodystrophy, Congenital Generalized, Type 2	Hepatic steatosis, Hepatomegaly, Umbilical hernia, Elevated hepatic transaminase, Acute pancreati...	OMIM:269700
Lathosterolosis	Hepatomegaly, Failure to thrive, Cataract, Abnormal thoracic spine morphology, Intrahepatic chole...	ORPHA:46059
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Multiple joint contractures, Small for gestational age, Anterior pituitary hyp...	ORPHA:464306
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Cerebrotendinous Xanthomatosis	Optic disc pallor, Cataract, Osteoporosis, Xanthelasma, Abnormal circulating cholesterol concentr...	OMIM:213700
Bartsocas-Papas Syndrome	Popliteal pterygium, Synostosis of joints, Corneal opacity	ORPHA:1234
Wolf-Hirschhorn Syndrome	Low-set, posteriorly rotated ears, Rib segmentation abnormalities, Abnormal heart valve morpholog...	ORPHA:280
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom...	OMIM:120200
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Recurrent fractures, Joint stiffn...	ORPHA:636
Short Stature, Microcephaly, And Endocrine Dysfunction	Lymphopenia, Inguinal hernia, Diabetes mellitus, Cataract, Cryptorchidism, Sensorineural hearing ...	OMIM:616541
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni...	OMIM:609136
Gracile Bone Dysplasia	Asplenia, Thin ribs, Decreased skull ossification, Hypocalcemia, Aniridia, Microphthalmia, Hypopl...	OMIM:602361
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Sensorineural hearing impair...	ORPHA:3226
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Pectus carinatum, Leukopenia, Hypoplasia of the thymus, Neutropeni...	OMIM:612541
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ...	ORPHA:293987
Recessive X-Linked Ichthyosis	Cryptorchidism, Opacification of the corneal stroma	ORPHA:461
Olmsted Syndrome 1	Flexion contracture, Corneal opacity, Opacification of the corneal stroma	OMIM:614594
Neuroocular Syndrome	Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Cataract, Rem...	OMIM:619539
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Chronic active hepatitis, Premature ovarian insufficiency, Female hypogonadis...	OMIM:240300
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Severe B lymphocytopenia, Hepatic fibrosis, Atrial septal defect, Hypothyroidism, Patent foramen ...	OMIM:620005
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Weight loss, Pheochromocytoma,...	ORPHA:1332
Brittle Cornea Syndrome 1	Keratoconus, Joint laxity, Atypical scarring of skin, Keratoglobus, Abnormal cornea morphology, D...	OMIM:229200
Parenteral Nutrition-Associated Cholestasis	Villous atrophy, Small for gestational age	ORPHA:567983
Klippel-Trénaunay Syndrome	Hepatomegaly, Peripheral arteriovenous fistula, Microcytic anemia, Venous insufficiency, Abnormal...	ORPHA:90308
Aspergillosis	Osteomyelitis, Eosinophilia, Keratitis, Abnormal rib morphology, Hepatitis, Intracranial hemorrha...	ORPHA:1163
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Small for gestational age, Perian...	OMIM:619573
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Prominent superficial veins, Cataract, Posteriorly rotated ears, Inguinal hernia, Cry...	OMIM:614438
Stromme Syndrome	Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Stillbirth, Low-se...	OMIM:243605
Cadds	Elevated hepatic transaminase, Cataract, Cholangitis, Adrenal hypoplasia, Sensorineural hearing i...	ORPHA:369942
Grant Syndrome	Abnormal rib morphology, Decreased skull ossification, Joint hyperflexibility, Narrow chest, Spre...	ORPHA:2097
Mucolipidosis Ii Alpha/Beta	Osteopenia, Increased serum beta-hexosaminidase, Cardiomegaly, Megalocornea, Hepatomegaly, Thorac...	OMIM:252500
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, Abnormality of neutrophils, Hearing impairment, Ocular albinism, Reduced bone mineral d...	ORPHA:2720
22Q11.2 Deletion Syndrome	Abnormal aortic arch morphology, Hypoplasia of the thymus, Hypocalcemia, Conductive hearing impai...	ORPHA:567
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec...	OMIM:108800
Fanconi Anemia	Reduced bone mineral density, Leukopenia, Abnormality of the liver, Atrial septal defect, Abnorma...	ORPHA:84
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Cataract, Recurrent fractures, Sensorineural hearing impairment, Optic atrophy...	OMIM:268315
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea, Weight loss, Hematochezia,...	ORPHA:2070
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Hypoglycemia, Patent ductus arteriosus, Buphthalmos, Neutropenia, Atrial septal defec...	OMIM:618005
Phaver Syndrome	Posteriorly rotated ears, Camptodactyly of finger, Ventricular septal defect, Joint stiffness, Co...	ORPHA:2876
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Microvesicular hepatic steatosis, Hepatic steatosis, Profound hearing impairment, Accessory splee...	OMIM:619418
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Elevated hemoglobin A1c, Anterior pituitary hypoplasia, Hypoglycem...	OMIM:616113
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Classic Homocystinuria	Elevated hepatic transaminase, Hepatomegaly, Retinal detachment, Cataract, Abnormality of retinal...	ORPHA:394
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-r...	ORPHA:829
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hypoglycemic seizures, Hypothyroidism, Hepatic steatosis, Hepatomegaly, Osteoporosis,...	ORPHA:79259
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618838
Cockayne Syndrome	Congenital contracture, Lentiglobus, Retinal arteriolar constriction, Retinal degeneration, Inten...	ORPHA:191
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Cystic angiomatosis of bone, Acute pancreatitis, Hepatomegaly, Hyp...	OMIM:608594
Schwartz-Jampel Syndrome	Elevated circulating creatine kinase concentration, Pectus carinatum, Microcornea, Wrist flexion ...	ORPHA:800
Diastrophic Dysplasia	Low-set, posteriorly rotated ears, Abnormal clavicle morphology, Increased bone mineral density, ...	ORPHA:628
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cataract, Cachexia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia	OMIM:175500
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi...	OMIM:238600
Cooper-Jabs Syndrome	Low-set, posteriorly rotated ears, Ventricular septal defect, Camptodactyly of finger, Congenital...	ORPHA:1488
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, M...	OMIM:256040
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph...	OMIM:221900
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Recurrent fractures, Craniosynostosis, Abnormal pulmonary valve morphology, Tremor,...	ORPHA:667
Achondrogenesis Type 1B	Femoral hernia, Abnormal enchondral ossification, Short thorax, Abnormal rib morphology, Narrow c...	ORPHA:93298
Limb Body Wall Complex	Ventral hernia, Encephalocele, Corneal opacity, Ventricular septal defect, Congenital diaphragmat...	ORPHA:2369
Infantile Nephropathic Cystinosis	Abnormality of thyroid physiology, Rickets, Abnormal blood ion concentration, Corneal crystals, G...	ORPHA:411629
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati...	OMIM:620103
Ciliary Dyskinesia, Primary, 50	Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella...	OMIM:620356
Grange Syndrome	Bicuspid aortic valve, Recurrent fractures, Carotid artery stenosis, Increased susceptibility to ...	OMIM:602531
Gomez-Lopez-Hernandez Syndrome	Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Craniosynostosis...	OMIM:601853
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Join...	OMIM:616881
Lipodystrophy, Familial Partial, Type 7	Lack of facial subcutaneous fat, Glucose intolerance, Decreased adipose tissue around neck, Pulmo...	OMIM:606721
Otopalatodigital Syndrome Type 2	Omphalocele, Carpal synostosis, Increased bone mineral density, Cataract, Abnormal pinna morpholo...	ORPHA:90652
Cardiomyopathy, Dilated, 1S	Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio...	OMIM:613426
Galloway-Mowat Syndrome 1	Cataract, Small for gestational age, Dystonia, Hiatus hernia, Optic atrophy, Hypoplasia of the ir...	OMIM:251300
Alg9-Cdg	Villous atrophy, Gastroesophageal reflux, Bifid uvula	ORPHA:79328
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Overriding aorta, Ventricular septal defect, Sclerocornea, Congenital diaphragmatic her...	OMIM:309801
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Spina bifida, Abnormal rib morphology, Abnormal cranial nerve morpholo...	ORPHA:2345
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ...	OMIM:256810
Digeorge Syndrome	Sclerocornea, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypoc...	OMIM:188400
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Sensorineural hearing impairment, Macrothrombocytopenia, Menorrhagia, Impaired platelet aggregati...	OMIM:124900
Microphthalmia, Syndromic 1	Anophthalmia, Aganglionic megacolon, Abnormal pinna morphology, Down-sloping shoulders, Bicuspid ...	OMIM:309800
Apolipoprotein A-I Deficiency	Decreased HDL cholesterol concentration, Xanthelasma, Opacification of the corneal stroma, Athero...	ORPHA:425
Relapsing Fever	Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio...	ORPHA:91547
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom...	OMIM:615688
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Sclerocornea, Cryptorchidism, Sensorineural hearing impairment, Protruding ear, Pigment...	OMIM:614230
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Scapular winging, Optic nerve hypoplasia, Decreased nerve co...	ORPHA:101085
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Menorrhagia, Imp...	ORPHA:274
Meckel Syndrome	Accessory spleen, Low-set, posteriorly rotated ears, Encephalocele, Cataract, Pancreatic fibrosis...	ORPHA:564
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Ophthalmomandibulomelic Dysplasia	Abnormal thorax morphology, Decreased mobility 3rd-5th fingers, Megalocornea, Opacification of th...	OMIM:164900
Insensitivity To Pain, Congenital, With Anhidrosis	Postural hypotension with compensatory tachycardia, Osteomyelitis, Keratitis, Corneal scarring, A...	OMIM:256800
Jeune Syndrome	Abnormality of retinal pigmentation, Abnormal clavicle morphology, Short thorax, Abnormal rib mor...	ORPHA:474
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Axenfeld-Rieger Syndrome, Type 2	Inguinal hernia, Cryptorchidism, Microcornea, Opacification of the corneal stroma, Umbilical hern...	OMIM:601499
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity	OMIM:602400
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Protein-losing enteropathy, Weight loss	ORPHA:103910
Glucocorticoid Resistance, Generalized	Hypoglycemia, Irregular menstruation, Increased circulating ACTH level, Increased circulating cor...	OMIM:615962
Spondyloocular Syndrome	Osteopenia, Retinal detachment, Cataract, Unilateral cryptorchidism, Posteriorly rotated ears, Po...	OMIM:605822
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Tetralogy of Fallot, Abnormal rib morphology, Low-set ears	ORPHA:276422
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Cataract, Thrombocytopenia, Abnormal thorax morphology, Reticulocyt...	ORPHA:508542
Mosaic Trisomy 1	Omphalocele, Hepatic agenesis, Thoracic scoliosis, Abnormal pinna morphology, Camptodactyly of fi...	ORPHA:1692
Pelvis-Shoulder Dysplasia	Hypoplastic scapulae, Optic disc coloboma, Short clavicles, Opacification of the corneal stroma, ...	OMIM:169550
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op...	ORPHA:206436
3Mc Syndrome 3	Abnormal pinna morphology, Corneal opacity, Cryptorchidism, Radioulnar synostosis, Auricular pit,...	OMIM:248340
Staphylococcal Necrotizing Pneumonia	Neutrophilia, Diabetes mellitus, Elevated circulating C-reactive protein concentration, Leukocyto...	ORPHA:36238
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Failure to thrive in infancy, Lipodystrophy, Elevated circulating C-reactive protei...	OMIM:617099
Late-Infantile/Juvenile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per...	ORPHA:206443
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenit...	ORPHA:2239
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Menorrhagia, Anemia	OMIM:616176
Acute Intermittent Porphyria	Hyponatremia, Tremor, Hepatocellular carcinoma	ORPHA:79276
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Villous atrophy, Esophageal carcinoma, Abnormal intestine morphology, Enterocolitis	ORPHA:391487
Van Den Ende-Gupta Syndrome	Hypoplastic scapulae, Posteriorly rotated ears, Glenoid fossa hypoplasia, Sclerocornea, Craniosyn...	OMIM:600920
Autoimmune Polyendocrine Syndrome, Type Ii	Hyperthyroidism, Cataract, Band keratopathy, Asplenia, Primary adrenal insufficiency, Hepatitis, ...	OMIM:269200
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival...	ORPHA:98957
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Liver abscess, Neutrophilia, Elevated circulating C...	ORPHA:54251
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Cockayne Syndrome Type 3	Flexion contracture, Microcornea, Lentiglobus, Adult onset sensorineural hearing impairment, Cond...	ORPHA:90324
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Hepatic steatosis, Joint...	OMIM:613658
Rodrigues Blindness	Microcornea, Sclerocornea, Protruding ear	OMIM:268320
Adams-Oliver Syndrome 1	Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypop...	OMIM:100300
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Holt-Oram Syndrome	Abnormal clavicle morphology, Ventricular septal defect, Down-sloping shoulders, Joint stiffness,...	ORPHA:392
Cushing Disease	Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Increased body weight, Leukocytosis, O...	ORPHA:96253
Peters Plus Syndrome	Bicuspid pulmonary valve, Microcornea, Abnormal pulmonary vein morphology, Conductive hearing imp...	ORPHA:709
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Moebius Syndrome	Hypogonadotropic hypogonadism, Facial palsy, Corneal opacity, Arthrogryposis multiplex congenita,...	ORPHA:570
Smith-Lemli-Opitz Syndrome	Low-set, posteriorly rotated ears, Cataract, Aganglionic megacolon, Abnormal dental enamel morpho...	ORPHA:818
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Trisomy 18	Low-set, posteriorly rotated ears, Omphalocele, Abnormality of retinal pigmentation, Cataract, Ve...	ORPHA:3380
Vernal Keratoconjunctivitis	Scarring, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate keratitis, Cornea...	ORPHA:70476
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros...	ORPHA:95699
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hepatomegaly, Hemolytic anemia, Cataract, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, ...	OMIM:608885
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Charge Syndrome	Anophthalmia, Decreased response to growth hormone stimulation test, Secundum atrial septal defec...	OMIM:214800
Dent Disease	Cataract, Renal hypophosphatemia, Osteomalacia, Elevated circulating creatine kinase concentratio...	ORPHA:1652
Tyrosinemia Type 2	Tremor, Corneal opacity	ORPHA:28378
Galactosialidosis	Conjunctival telangiectasia, Hepatosplenomegaly, Opacification of the corneal stroma, Cherry red ...	OMIM:256540
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Failure to thrive, Anophthalmia, Corneal opacity, Abnormal d...	ORPHA:2556
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Abnormality of the thyroid gland, Abnormal rib morphology, Decreased fertility...	ORPHA:2234
Prune Belly Syndrome	Ventricular septal defect, Pectus excavatum, Cryptorchidism, Patent ductus arteriosus, Abnormal r...	ORPHA:2970
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Femoral-Facial Syndrome	Inguinal hernia, Maternal diabetes, Cryptorchidism, Abnormal rib morphology, Rib fusion, Radiouln...	ORPHA:1988
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho...	ORPHA:480520
Vascular Hyalinosis	Hematochezia, Protein-losing enteropathy, Malabsorption	OMIM:277175
Autosomal Dominant Cutis Laxa	Osteopenia, Joint laxity, Inguinal hernia, Corneal opacity, Dilatation of the ventricular cavity,...	ORPHA:90348
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:1302
Cenani-Lenz Syndrome	Cataract, Abnormal dental enamel morphology, Abnormal rib morphology, Protruding ear, Radioulnar ...	ORPHA:3258
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Autosomal Recessive Spondylocostal Dysostosis	Low-set, posteriorly rotated ears, Rib segmentation abnormalities, Inguinal hernia, Camptodactyly...	ORPHA:2311
Laubry-Pezzi Syndrome	Aortic valve prolapse, Bicuspid aortic valve, Abnormal coronary artery morphology, Ventricular se...	ORPHA:99094
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Leukop...	ORPHA:1304
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract, Irregular tarsal ...	OMIM:221800
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hyp...	OMIM:232220
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Sclerocornea	OMIM:611038
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Retinal atrophy, Elevated circulating creatine kinase concentration, ...	ORPHA:2785
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Diabetes mellitus, Hypouricemia, Hypoglycemia, Large for gestational age, Rickets, Glycosuria, Hy...	OMIM:616026
Angioosteohypotrophic Syndrome	Venous malformation, Abnormal trabecular bone morphology, Prominent superficial veins, Thin bony ...	ORPHA:75508
Von Willebrand Disease	Venous insufficiency, Abnormal mitral valve morphology, Abnormality of thrombocytes, Abnormal pla...	ORPHA:903
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Congenital diaphragmatic hernia, Missing ribs, Abnormality of the spleen, Abnormal r...	ORPHA:1834
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Spermatogenic Failure 28	Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El...	OMIM:618086
Spermatogenic Failure 38	Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h...	OMIM:618433
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Cataract, Conjugated hyperbilirubinemia, Jaundice, Short thorax, He...	ORPHA:168577
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization	ORPHA:163934
Septopreoptic Holoprosencephaly	Precocious puberty, Abnormal rib morphology, Coarctation of aorta, Anterior hypopituitarism, Cent...	ORPHA:280195
Melnick-Needles Syndrome	Omphalocele, Craniofacial hyperostosis, Short thorax, Abnormal rib morphology, Osteolytic defects...	ORPHA:2484
Stuve-Wiedemann Syndrome 1	Pulmonary arterial medial hypertrophy, Osteoporosis, Elbow flexion contracture, Knee flexion cont...	OMIM:601559
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Atresia of the external auditory canal, Opacification of the corneal stroma	OMIM:601356
Xeroderma Pigmentosum	Conjunctival telangiectasia, Craniofacial hyperostosis, Cataract, Keratitis, Cryptorchidism, Sens...	ORPHA:910
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c...	ORPHA:85450
Mucoepithelial Dysplasia, Hereditary	Cataract, Eosinophilia, Keratoconjunctivitis, Opacification of the corneal stroma, Corneal neovas...	OMIM:158310
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Inguinal hernia, Transient neutropenia, Cataract, Chronic neutropenia, Ventricular septal defect,...	ORPHA:500095
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Recurrent fractures, Venous insufficiency, Reduced bone mineral density, Arteriovenous malformati...	ORPHA:137608
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Abnormal posturing, Dystonia, Titubation	ORPHA:225147
Proboscis Lateralis	Cataract, Corneal opacity, Optic nerve hypoplasia, Anophthalmia, Ventricular septal defect, Paten...	ORPHA:141099
Fryns Syndrome	Omphalocele, Atrial septal defect, Ectopic pancreatic tissue, Aganglionic megacolon, Thoracic hyp...	OMIM:229850
Microphthalmia, Syndromic 5	Joint laxity, Ectopic posterior pituitary, Cataract, Anophthalmia, Optic nerve hypoplasia, Crypto...	OMIM:610125
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk...	ORPHA:3243
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Abnormal pinna morphology, Hypogonadotropic hypogonadism, Facial palsy...	ORPHA:3068
Spondyloepimetaphyseal Dysplasia, Irapa Type	Osteoarthritis, Limitation of joint mobility, Osteoporosis, Abnormal rib morphology, Pectus carin...	ORPHA:93351
Sandifer Syndrome	Abnormal posturing, Torticollis, Anemia, Hiatus hernia	ORPHA:71272
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Barrel-shaped chest, Limitation of joint mobility, Shield chest, Opacification of the corneal str...	OMIM:313400
Poland Syndrome	Encephalocele, Diabetes mellitus, Dextrocardia, Congenital diaphragmatic hernia, Aplasia/Hypoplas...	ORPHA:2911
Yunis-Varon Syndrome	Aplasia/Hypoplasia of the clavicles, Atrial septal defect, Absent sternal ossification, Cataract,...	ORPHA:3472
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia, Oligoarthritis, Elevated circulating C-reactive protein concentration	OMIM:614204
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Pectus excavatum, Abnormal rib morphology, Fused cervical vertebrae...	ORPHA:2522
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As...	ORPHA:402075
Menkes Disease	Inguinal hernia, Osteomyelitis, Hypoglycemia, Recurrent fractures, Tarsal synostosis, Venous insu...	ORPHA:565
Roberts-Sc Phocomelia Syndrome	Knee flexion contracture, Coloboma, Atrial septal defect, Wrist flexion contracture, Accessory sp...	OMIM:268300
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Corneal opacity, Microphthalmia, Small earlobe, Failure to thrive, Hearing impairment	ORPHA:364577
Mpi-Cdg	Gastrointestinal hemorrhage, Failure to thrive, Protein-losing enteropathy	ORPHA:79319
Spermatogenic Failure 14	Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti...	OMIM:615842
3-Methylglutaconic Aciduria, Type Viii	Cataract, Dystonia, Tremor, Jaundice, Patent ductus arteriosus, Sensorineural hearing impairment,...	OMIM:617248
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Steatorrhea, Persistence of hemoglobin F,...	OMIM:260400
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Macroorchidism, Oligozoospermia	ORPHA:3000
Trisomy 1Q	Omphalocele, Anophthalmia, Ventricular septal defect, Camptodactyly of finger, Congenital diaphra...	ORPHA:261344
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Anophthalmia, Sclerocornea, Precocious puberty, Microcornea, Coloboma, Ectopia pupillae...	OMIM:615877
Fanconi Anemia, Complementation Group A	Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Crypto...	OMIM:227650
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto...	ORPHA:67044
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Ciliary Dyskinesia, Primary, 1	Male infertility, Conductive hearing impairment, Abnormal cornea morphology, Asplenia	OMIM:244400
Ovarian Dysgenesis 3	Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ...	OMIM:614324
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Hypertyrosinemia, Cataract, Hypoglycemia, Cholangitis, Microvesicu...	OMIM:124000
Spermatogenic Failure 75	Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ...	OMIM:619949
Kaposi Sarcoma	Venous insufficiency, Abnormality of the spleen, Abnormality of the liver, Weight loss	ORPHA:33276
Charge Syndrome	Anophthalmia, Hypoplasia of the semicircular canal, Abnormality of bone mineral density, Choriore...	ORPHA:138
Neurocardiofaciodigital Syndrome	Optic disc pallor, Cataract, Small for gestational age, Sclerocornea, Patent ductus arteriosus, T...	OMIM:619869
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Obstructive azoospermia	OMIM:301060
Kindler Epidermolysis Bullosa	Corneal opacity, Abnormal dental enamel morphology, Camptodactyly of finger, Flexion contracture,...	ORPHA:2908
Myhre Syndrome	Craniofacial hyperostosis, Inguinal hernia, Cataract, Femoral hernia, Joint stiffness, Precocious...	ORPHA:2588
Trisomy 10P	Absent gallbladder, Small for gestational age, Posteriorly rotated ears, Abnormal auditory evoked...	ORPHA:171929
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, EEG abnormality, Erectile dysfunction	ORPHA:206448
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Retinal atrophy, Elevated circulating creatine kinase concentration, Optic atrophy, Bup...	OMIM:253280
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the earlobes, Abnormal rib morphology, Pectus carinatum, Ab...	ORPHA:3082
Lethal Congenital Contracture Syndrome Type 1	Low-set, posteriorly rotated ears, Recurrent fractures, Limitation of joint mobility, Abnormal ri...	ORPHA:1486
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Neutrophilia, Small for gestational age, Scarring, Microcytic anemia, Keratitis, Le...	ORPHA:99843
Craniosynostosis, Herrmann-Opitz Type	Abnormal antihelix morphology, Microtia, Abnormal rib morphology, Craniosynostosis	ORPHA:2145
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Spermatogenic Failure, X-Linked, 4	Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos...	OMIM:301077
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Cataract, Calcification of the auricular cartilage, Bilateral cryptorchidism, Pe...	ORPHA:3042
Mednik Syndrome	Cataract, Sensorineural hearing impairment, Cholestasis, Hepatic fibrosis, Cirrhosis, Increased c...	OMIM:609313
Lead Poisoning	Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol...	ORPHA:330015
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase...	ORPHA:786
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia, Failure to thrive	OMIM:618426
Enlarged Parietal Foramina	Occipital encephalocele, Craniosynostosis, Myelomeningocele, Short clavicles, Abnormal cerebral v...	ORPHA:60015
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Corneal opacity, Optic nerve hypoplasia, Corneal dystrophy, Cryptorchidism, Buphthalmos, Keratoco...	ORPHA:495875
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Cholangitis, Intracranial hemorrhage, Neutrophilia, Leukocytosis, Dilated cardiomy...	ORPHA:3260
Occipital Horn Syndrome	Osteopenia, Venous insufficiency, Pectus carinatum, Narrow chest, Femoral hernia, Osteomalacia, S...	ORPHA:198
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Legius Syndrome	Cataract, Dystonia, Acute monocytic leukemia, Mitral valve prolapse, Xanthelasma, Vestibular schw...	ORPHA:137605
Multiple Pterygium-Malignant Hyperthermia Syndrome	Inguinal hernia, Posteriorly rotated ears, Camptodactyly of finger, Pectus excavatum, Cryptorchid...	ORPHA:2215
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Ablepharon Macrostomia Syndrome	Omphalocele, Corneal opacity, Camptodactyly of finger, Corneal erosion, Microtia, Atresia of the ...	ORPHA:920
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin	ORPHA:423479
White Forelock With Malformations	Low-set, posteriorly rotated ears, Abnormal rib morphology, Joint hyperflexibility, Atrial septal...	ORPHA:2475
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Proximal Renal Tubular Acidosis	Cataract, Band keratopathy, Enamel hypomineralization, Bicarbonaturia, Reduced bone mineral densi...	ORPHA:47159
Bloom Syndrome	Male infertility, Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Diabetes ...	ORPHA:125
Monosomy 9Q22.3	Cataract, Large for gestational age, Pectus excavatum, Abnormal rib morphology, Cardiac fibroma, ...	ORPHA:77301
Fraser Syndrome 1	Encephalocele, Anophthalmia, Corneal opacity, Abnormal pinna morphology, Aplasia/Hypoplasia of th...	OMIM:219000
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Reticulocytosis, Lymphopenia, Pericarditis, Hypoglycemia, Elevated...	ORPHA:99826
Ciliary Dyskinesia, Primary, 14	Male infertility, Situs inversus totalis, Polysplenia, Immotile sperm, Reduced sperm motility	OMIM:613807
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Inguinal hernia, Abnormality of the menstrual cycle, Decreased nerve conduction velo...	ORPHA:285
Linear Skin Defects With Multiple Congenital Anomalies 3	Sclerocornea, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Mi...	OMIM:300952
Sotos Syndrome	Neonatal hypoglycemia, Tremor, Flexion contracture, Conductive hearing impairment, Atrial septal ...	ORPHA:821
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia, Failure to thrive, Small for gestational age	OMIM:618252
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia, Dextrocardia, Male infertility, Situs inversus totalis	OMIM:618948
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Abnormal rib morphology, Con...	ORPHA:2519
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Posteriorly rotated ears, Corneal opacity, Ventricular septal defect, Sensorineural hearing impai...	OMIM:608670
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Posteriorly rotated ears, Missing ribs, Abnormal rib morphology, Joint hyperflexibility, Abnormal...	ORPHA:2759
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Azoospermia, Abnormal rib morphology, Hearing impairment	ORPHA:2578
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration, Corneal crystals	OMIM:219750
Crimean-Congo Hemorrhagic Fever	Stiff neck, Elevated circulating creatine kinase concentration, Leukopenia, Conjunctivitis, Chole...	ORPHA:99827
Autosomal Dominant Spondylocostal Dysostosis	Missing ribs, Short thorax, Abnormal rib morphology, Posterior rib fusion, Spina bifida occulta	ORPHA:1797
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Alström Syndrome	Thoracic scoliosis, Decreased response to growth hormone stimulation test, Elevated circulating t...	ORPHA:64
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Familial Multiple Nevi Flammei	Venous insufficiency, Arteriovenous malformation, Intracranial hemorrhage, Abnormal cranial nerve...	ORPHA:624
Cleidocranial Dysplasia	Hypoplastic scapulae, Recurrent fractures, Abnormal dental enamel morphology, Down-sloping should...	ORPHA:1452
Pierson Syndrome	Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya...	OMIM:609049
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility...	ORPHA:572333
Campomelia, Cumming Type	Hepatomegaly, Abnormally ossified vertebrae, Pancreatic cysts, Abnormality of the pancreas, Abnor...	ORPHA:1318
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Omphalocele, Inguinal hernia, Corneal opacity, Aganglionic megacolon, Abnormal dental enamel morp...	ORPHA:2273
Complete Androgen Insensitivity Syndrome	Male infertility, Testicular neoplasm, Elevated circulating luteinizing hormone level, Bilateral ...	ORPHA:99429
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Hepatosplenomegaly, Failure to thrive, Hypothyroid...	OMIM:618999
Oculoectodermal Syndrome	Atrial septal defect, Transient ischemic attack, Patent ductus arteriosus, Pineal cyst, Microcorn...	OMIM:600268
Laryngotracheoesophageal Cleft Type 4	Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Abnormal rib morphology, Abno...	ORPHA:93941
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormal dental enamel morphology, Abnormal rib morphology, Obesity, Low-set ears, Sprengel anomaly	ORPHA:2180
Parkes Weber Syndrome	Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V...	ORPHA:90307
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	11 pairs of ribs, Occipital encephalocele, Elevated circulating creatine kinase concentration, Op...	OMIM:615287
Unilateral Polymicrogyria	Pulmonary arteriovenous malformation, Abnormal heart morphology, Stroke, Infantile sensorineural ...	ORPHA:268943
Noonan Syndrome 1	Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Pectus exca...	OMIM:163950
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Iris atrophy, Barrel-shaped chest, Cataract, Ventricular septal defect, Recurrent fra...	OMIM:259770
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets, Corneal crystals	OMIM:219900
Classical Ehlers-Danlos Syndrome	Osteopenia, Orthostatic hypotension, Uterine prolapse, Inguinal hernia, Hiatus hernia, Incisional...	ORPHA:287
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Cachexia, High, narrow palate, Rectal prolapse, Adenomatous colonic ...	ORPHA:79076
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo...	OMIM:602196
Bartsocas-Papas Syndrome 1	Omphalocele, Inguinal hernia, Hypoplastic scapulae, Bilateral cryptorchidism, Patent foramen oval...	OMIM:263650
46,Xy Partial Gonadal Dysgenesis	Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing ...	ORPHA:251510
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
47,Xyy Syndrome	Male infertility, Cryptorchidism, Increased circulating gonadotropin level, Oligozoospermia, Azoo...	ORPHA:8
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Conjunctivi...	ORPHA:293173
Microphthalmia, Syndromic 6	Failure to thrive, Female hypogonadism, Posteriorly rotated ears, Adrenal hypoplasia, Sclerocorne...	OMIM:607932
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Splenomegaly, Abnormally ossified vertebrae, Abnormal rib morphology	ORPHA:3035
Milroy Disease	Hydrocele testis, Varicose veins, Abnormal venous morphology, Cellulitis	ORPHA:79452
Partial Androgen Insensitivity Syndrome	Male infertility, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Incre...	ORPHA:90797
Pagod Syndrome	Omphalocele, Abnormal clavicle morphology, Encephalocele, Congenital diaphragmatic hernia, Spina ...	ORPHA:991
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Antley-Bixler Syndrome	Low-set, posteriorly rotated ears, Recurrent fractures, Camptodactyly of finger, Craniosynostosis...	ORPHA:83
Ehlers-Danlos Syndrome, Vascular Type	Hypermobility of distal interphalangeal joints, Hypermobility of interphalangeal joints, Finger j...	OMIM:130050
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Posteriorly rotated ears, Bicuspid aortic valve, Small for gestational age, Secundum atrial septa...	OMIM:613355
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Conductive hearing impairment, Azoospermia, Sprengel anomaly, Abnormal rib morphology	OMIM:601076
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Missing ribs, Abnormal rib morphology, Abnormal earlobe m...	ORPHA:2769
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus...	ORPHA:90291
Klippel-Feil Syndrome 1, Autosomal Dominant	Mixed hearing impairment, Sensorineural hearing impairment, Abnormal rib morphology, Conductive h...	OMIM:118100
Bleeding Disorder, Platelet-Type, 17	Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules...	OMIM:187900
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Venous insufficiency, Abnormal cerebral vascular morphology	ORPHA:745
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Thoracic Outlet Syndrome	Varicose veins, Abnormal rib morphology	ORPHA:97330
Vacterl/Vater Association	Low-set, posteriorly rotated ears, Omphalocele, Occipital encephalocele, Congenital diaphragmatic...	ORPHA:887
Fibrochondrogenesis	Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Abnormal rib morphology, Bell-shaped ...	ORPHA:2021
Dextrocardia	Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Abnormal rib morphology, Abnorma...	ORPHA:1666
Simpson-Golabi-Behmel Syndrome	Low-set, posteriorly rotated ears, Hepatomegaly, Inguinal hernia, Omphalocele, Vertebral fusion, ...	ORPHA:373
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Venous insufficiency, Abnormal cerebral vascular morphology	ORPHA:743
Gjc2-Related Late-Onset Primary Lymphedema	Venous insufficiency, Abnormal lymphatic vessel morphology, Varicose veins, Hypoplasia of lymphat...	ORPHA:568051
Congenital Aortic Valve Stenosis	Thoracic aortic aneurysm, Aortic valve calcification, Aortic valve atresia, Endocarditis, Endocar...	ORPHA:3093
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Cranial hyperostosis, Spinal dysraphism, Lipoma, Venous malformation	OMIM:612918
Autosomal Dominant Popliteal Pterygium Syndrome	Joint stiffness, Cryptorchidism, Abnormal rib morphology, Nonketotic hyperglycinemia, Popliteal p...	ORPHA:1300
Holzgreve Syndrome	Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Joint stiffness, Abnormal mesen...	ORPHA:2167
Foix-Alajouanine Syndrome	Myelopathy, Cervical myelopathy, Male sexual dysfunction, Arteriovenous fistula, Female sexual dy...	ORPHA:79093
Hereditary Acrokeratotic Poikiloderma	Camptodactyly of finger, Abnormal rib morphology, Keratoconjunctivitis, Joint hyperflexibility, O...	ORPHA:2907
Yunis-Varon Syndrome	Sclerocornea, Protruding ear, Small earlobe, Decreased skull ossification, Patent foramen ovale, ...	OMIM:216340
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Abnormal rib morphology	ORPHA:1506
Mesomelic Dysplasia, Kantaputra Type	Abnormal rib morphology, Tarsal synostosis, Camptodactyly of finger, Synostosis of carpal bones	ORPHA:1836
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Townes-Brocks Syndrome	Atrial septal defect, Cataract, Abnormal pulmonary valve morphology, External ear malformation, C...	ORPHA:857
Holoprosencephaly 14	Ventricular septal defect, Aortic valve atresia, Double outlet right ventricle, EEG abnormality, ...	OMIM:619895
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juv...	ORPHA:2929
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Microphthalmia With Limb Anomalies	Low-set, posteriorly rotated ears, Tarsal synostosis, Venous insufficiency, Cryptorchidism, Optic...	ORPHA:1106
Juberg-Hayward Syndrome	Radioulnar synostosis, Abnormal rib morphology	ORPHA:2319
Pneumocystosis	Weight loss, Abnormal neutrophil count	ORPHA:723
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Hemihyperplasia-Multiple Lipomatosis Syndrome	Lipoatrophy, Abnormal cerebral vascular morphology, Hydrocele testis, Multiple lipomas, Microtia,...	ORPHA:276280
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Abnormal pinna morphology, Symblepharon, Abnormal rib morphology, Spina bifida occult...	ORPHA:488434
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Omphalocele, Atrial septal defect, Inguinal hernia, Aganglionic megacolon, Keratitis, Cryptorchid...	OMIM:308205
Ear-Patella-Short Stature Syndrome	Microtia, third degree, Posteriorly rotated ears, Camptodactyly of finger, Craniosynostosis, Apla...	ORPHA:2554
Cystic Fibrosis	Male infertility, Hepatomegaly, Cor pulmonale, Biliary cirrhosis, Hepatosplenomegaly, Cirrhosis, ...	OMIM:219700
Clapo Syndrome	Pectus excavatum, Varicose veins, Narrow chest, Failure to thrive, Venous malformation	ORPHA:168984
Yellow Fever	Acute pancreatitis, Neutrophilia, Elevated circulating aspartate aminotransferase concentration, ...	ORPHA:99829
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility, Abdominal situs inversus, Dextrocardia, Situs inversus totalis	OMIM:619607
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Monosomy 9P	Congenital diaphragmatic hernia, Cryptorchidism, Limitation of joint mobility, Abnormal rib morph...	ORPHA:261112
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Tinnitus, Opacification of the corneal stroma, Hearing impairment	ORPHA:79280
Cole-Carpenter Syndrome	Joint hyperflexibility, Abnormal rib morphology, Recurrent fractures, Abnormal dental enamel morp...	ORPHA:2050
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia	OMIM:277180
Whim Syndrome	Abnormal small intestine morphology, Parotitis	ORPHA:51636
Vater/Vacterl Association	Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Abnor...	OMIM:192350
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Varicose veins, Venous malformation	OMIM:613089
Ulbright-Hodes Syndrome	Abnormal pinna morphology, Maternal diabetes, Cryptorchidism, Humeroradial synostosis, Abnormal r...	ORPHA:3404
Radio-Renal Syndrome	Abnormal rib morphology	ORPHA:3015
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Abnormal rib morphology, Narrow chest, Abnormal scapula morphology	ORPHA:93317
Glomuvenous Malformation	Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation	ORPHA:83454
Familial Cerebral Cavernous Malformation	Venous malformation, Cerebral hemorrhage	ORPHA:221061

Histopathology

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

There is no histopathology data for Camsap3

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 Camsap3.

There are 9 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Vestibular Hair Cells Require CAMSAP3, a Microtubule Minus-End Regulator, for Formation of Normal Kinocilia.	Frontiers in cellular neuroscience (June 2022)	Camsap3^{tm1a(EUCOMM)Wtsi}	PMC9247359
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Camsap3^{tm1a(EUCOMM)Wtsi}	PMC7263671
CAMSAP3 facilitates basal body polarity and the formation of the central pair of microtubules in motile cilia.	Proceedings of the National Academy of Sciences of the United States of America (June 2020)	Camsap3^{tm1a(EUCOMM)Wtsi}	PMC7306751
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Camsap3^{tm1a(EUCOMM)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Camsap3^{tm1a(EUCOMM)Wtsi} Camsap3^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Camsap3^{tm1a(EUCOMM)Wtsi}	PMC6459510
CAMSAP3 maintains neuronal polarity through regulation of microtubule stability.	Proceedings of the National Academy of Sciences of the United States of America (September 2018)	Camsap3^{tm1a(EUCOMM)Wtsi}	PMC6166842
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Camsap3^{tm1a(EUCOMM)Wtsi}	PMC5827107
Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice.	Wellcome open research (January 2016)	Camsap3^{tm1a(EUCOMM)Wtsi}	PMC5159622

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

MGI Allele	Allele Type	Produced
Camsap3^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Camsap3^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Camsap3^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Camsap3 MGI:1916947

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

DSS Histology

X-ray

Eye Morphology

Anti-nuclear antibody assay

X-ray

X-ray

Eye Morphology

X-ray

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Camsap3 mutations

Histopathology

IMPC related publications

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