Genes Phenotypes Help, News, Blog

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

Gene: Sgsh MGI:1350341

Gene Summary

Name:

N-sulfoglucosamine sulfohydrolase (sulfamidase)

Synonyms:

4632406A19Rik, sulphamidase

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
thrombocytosis	Sgsh^em3(IMPC)Tcp	HOM	Early adult	7.75×10^-05
short tibia	Sgsh^em3(IMPC)Tcp	HOM	Early adult	1.35×10^-07
decreased exploration in new environment	Sgsh^em3(IMPC)Tcp	HOM	Early adult	1.89×10^-05
increased blood urea nitrogen level	Sgsh^em3(IMPC)Tcp	HOM	Early adult	3.02×10^-05
increased circulating alkaline phosphatase level	Sgsh^em3(IMPC)Tcp	HOM	Early adult	7.03×10^-09
increased bone mineral density	Sgsh^em3(IMPC)Tcp	HOM	Early adult	3.48×10^-05
increased startle reflex	Sgsh^em3(IMPC)Tcp	HOM	Early adult	1.45×10^-07
decreased total body fat amount	Sgsh^em3(IMPC)Tcp	HOM	Early adult	1.70×10^-07
increased bone mineral content	Sgsh^em3(IMPC)Tcp	HOM	Early adult	1.14×10^-08

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

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.

Histopathology

Images

18 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

X-ray

XRay Images Skull Lateral Orientation

10 Images

View images

Gross Pathology and Tissue Collection

Images

8 Images

View images

Immunophenotyping

Panel A FCS file(s)

6 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

Immunophenotyping

Panel B FCS file(s)

6 Images

View images

Human diseases caused by Sgsh 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 Sgsh (1 diseases)
Human diseases predicted to be associated with Sgsh (1493 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Mucopolysaccharidosis, Type Iiia		Hepatomegaly, Hyperactivity, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Ovoid t...	OMIM:252900

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

Disease	Matching phenotypes	Source
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Mueller-Weiss Syndrome	Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone...	ORPHA:566943
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Buschke-Ollendorff Syndrome	Lower limb asymmetry, Connective tissue nevi, Joint stiffness, Osteopoikilosis, Flexion contracture	OMIM:166700
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Elbow fle...	OMIM:604416
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Melorheostosis With Osteopoikilosis	Multiple lipomas, Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the...	ORPHA:1879
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Osteosclerotic Metaphyseal Dysplasia	Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclerosis	OMIM:615198
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Isolated Osteopoikilosis	Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m...	ORPHA:166119
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L...	ORPHA:232
Hurler-Scheie Syndrome	Hepatomegaly, Corneal opacity, Abnormality of the tonsils, Abnormal heart valve morphology, Splen...	ORPHA:93476
Osebold-Remondini Syndrome	Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,...	OMIM:112910
Immunodeficiency 69	Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl...	OMIM:618963
Adrenomyodystrophy	Megacystis, Myopathy, Abnormality of the urinary system, Megalocornea, Hepatic steatosis	ORPHA:977
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty...	ORPHA:3152
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy, Cataract	ORPHA:79281
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Immunodeficiency 27A	Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Salmonella osteom...	OMIM:209950
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density, Pedal edema	ORPHA:75325
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t...	ORPHA:3416
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Hyperactivity, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Syno...	OMIM:252920
Uncombable Hair Syndrome 2	Uncombable hair, Juvenile cataract, Pili canaliculi	OMIM:617251
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope...	ORPHA:210110
Flynn-Aird Syndrome	Increased bone mineral density, Joint stiffness, Osteoporosis, Dementia, Increased bone density w...	OMIM:136300
Dentin Dysplasia	Increased bone mineral density, Abnormal dental enamel morphology	ORPHA:1653
Witkop Syndrome	Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair	OMIM:189500
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Recurrent urinary tract infections, Fetal pyelectasis, Megacystis, Nephrolithiasis, Mydriasis	OMIM:619365
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Freq...	OMIM:620141
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density	OMIM:602475
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo...	ORPHA:2790
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Thrombocytosis, Anemia of inadequate production, Megaloblastic a...	OMIM:617780
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb...	ORPHA:90650
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Galactosialidosis	Abnormality of the vertebral column, Corneal opacity, Abnormal vertebral morphology	ORPHA:351
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi...	ORPHA:105
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Eiken Syndrome	Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morph...	ORPHA:79106
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Limb undergrowth, Ab...	ORPHA:2204
Macdermot-Winter Syndrome	Camptodactyly of finger, Highly arched eyebrow, Low anterior hairline, Frontal upsweep of hair, H...	OMIM:247990
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Melorheostosis	Increased bone mineral density, Joint stiffness, Lower limb asymmetry, Atypical scarring of skin,...	ORPHA:2485
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Abnormal heart morphology, Aplasia...	ORPHA:1067
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Hepatomegaly, Corneal opacity	ORPHA:2432
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Hyperactivity, Kyphoscoliosis, Heparan sulfate excretion in urine, Splenomegaly, Sy...	OMIM:252930
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Hyperactivity, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Ovoid t...	OMIM:252900
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine concentration...	OMIM:620366
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Winchester Syndrome	Kyphosis, Corneal opacity, Hirsutism	OMIM:277950
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Corneal opacity, Thrombocytopenia	ORPHA:1980
Megabladder, Congenital	Multiple glomerular cysts, Ventricular septal defect, Left ventricular noncompaction cardiomyopat...	OMIM:618719
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy...	OMIM:231095
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Ureterocele, Vesicoureteral reflux, Micropenis, Sparse eyebrow, Cryptorchidism, Megacystis, Blue ...	OMIM:604292
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Woolly Hair	Hypopigmentation of hair, Brittle hair, Cataract, Slow-growing hair, Abnormality of hair texture,...	ORPHA:170
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Hydronephrosis, Low posterior hairline	ORPHA:1450
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen	OMIM:620085
Sialidosis Type 2	Hepatomegaly, Skeletal muscle atrophy, Corneal opacity, Splenomegaly, Kyphosis, Flexion contractu...	ORPHA:87876
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome	Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te...	ORPHA:2891
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Brain-Lung-Thyroid Syndrome	Atrial septal defect, Hyperactivity, Hypospadias, Ventricular septal defect, Abnormal eating beha...	ORPHA:209905
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene...	ORPHA:53
Mucolipidosis Type Iii	Abnormal heart valve morphology, Corneal opacity, Hyperlordosis, Abnormal form of the vertebral b...	ORPHA:577
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Woolly hair, Right ventricular cardiomyopathy	OMIM:610476
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypospadias, Corneal opacity, Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Develo...	OMIM:618815
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Pancytopenia, Femur fracture, Craniosynostosis, Th...	OMIM:259700
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Scoliosis, Abnormal cardiac septum morphology, Corneal opacity, Abnormal form of the vertebral bo...	ORPHA:2370
2p15-16.1 microdeletion syndrome	Camptodactyly of finger, Hydronephrosis	DECIPHER:70
Familial Visceral Myopathy	Hydroureter, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Megac...	ORPHA:2604
Juvenile Sialidosis Type 2	Hepatomegaly, Cataract, Corneal opacity, Abnormality of the kidney, Dysphagia, Hepatosplenomegaly...	ORPHA:93399
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L...	ORPHA:1423
8P23.1 Duplication Syndrome	Ventricular septal defect, Highly arched eyebrow, Pulmonic stenosis, Tetralogy of Fallot, Hydrone...	ORPHA:251076
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis	ORPHA:178377
Bardet-Biedl Syndrome 19	Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Renal hypo...	OMIM:615996
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria, Cataract	OMIM:619813
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo...	OMIM:611490
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Portal hypertension, Megacystis, Hepatic failure, Hydronephrosis	OMIM:619431
Diastrophic Dysplasia	Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Micromelia, Jo...	ORPHA:628
Osteopetrosis, Autosomal Recessive 6	Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero...	OMIM:611497
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Micrognathia, Shor...	ORPHA:2756
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Slc35A2-Cdg	Osteopenia, Limb joint contracture, Increased circulating thyroglobulin level, Craniosynostosis, ...	ORPHA:356961
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:617872
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Compulsive behaviors, Fragile nails, Fine hair	ORPHA:500166
22Q11.2 Duplication Syndrome	Ventricular septal defect, Urethral stenosis, Hydronephrosis, Hypoplastic left heart, Transpositi...	ORPHA:1727
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polydipsia, Megacystis, Polyuria	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia, Megacystis, Polyuria	OMIM:304800
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Confusion, Tremor, Schistocytosis, Elevated circulating creatinine concentration...	OMIM:274150
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Multicystic kidney dysplasia, Hydroureter, Cryptorchidism, Neoplasm of the heart, Megacystis	ORPHA:2241
Crandall Syndrome	Alopecia, Hypoplasia of penis, Brittle hair, Fine hair, Sparse body hair, Abnormal testis morphol...	ORPHA:202
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration	OMIM:109130
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t...	ORPHA:617
Congenital Myopathy 19	Skeletal muscle atrophy, Facial hypotonia, Cryptorchidism, Renal atrophy, Congenital contracture,...	OMIM:618578
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Elevated circulating C-reactive protein concentration, Asplenia, Increased circ...	OMIM:614034
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum...	OMIM:600785
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Cryptorchidism, Kyphosis, Astigmatism, Frontal upsweep of hair, Scoliosis, Hydronephrosis	OMIM:619797
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:1490
Poems Syndrome	Sclerosis of hand bone, Lipodystrophy, Sclerosis of foot bone, Metaphyseal sclerosis, Sclerosis o...	ORPHA:2905
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Tonne-Kalscheuer Syndrome	Hypospadias, Congenital diaphragmatic hernia, Concave nail, Aggressive behavior, Cryptorchidism, ...	OMIM:300978
Noonan Syndrome 9	Curly hair, Hydroureter, Ventricular septal defect, Prominent corneal nerve fibers, Short neck, S...	OMIM:616559
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste...	OMIM:607634
Acrokeratoderma, Hereditary Papulotranslucent	Fine hair	OMIM:101840
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Abnormality of the urinary system, Hydronephrosis	ORPHA:2669
Tibial Aplasia-Ectrodactyly Syndrome	Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl...	ORPHA:3329
Mucopolysaccharidosis, Type Vii	Short neck, Flexion contracture, Coarse hair, Anterior beaking of lumbar vertebrae, Hepatomegaly,...	OMIM:253220
Spondyloepiphyseal Dysplasia Tarda	Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e...	ORPHA:93284
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis	OMIM:619362
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608631
Kury-Isidor Syndrome	Alopecia, Sacral dimple, Ventricular septal defect, Short neck, Astigmatism, Attention deficit hy...	OMIM:619762
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated hepatic transaminase, Hepatomegaly, Duplicated collecting system, Hypospadias, Corneal o...	OMIM:301056
Brachyolmia Type 1, Toledo Type	Back pain, Kyphoscoliosis, Short neck, Increased urinary disaccharide excretion, Irregular verteb...	OMIM:271630
Visceral Myopathy 1	Megacystis, Hydronephrosis, Urinary retention, Dysphagia, Vesicoureteral reflux, Pancreatitis	OMIM:155310
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis	OMIM:122860
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300425
Autoimmune Hypoparathyroidism	Increased bone mineral density, Confusion, Depression, Irritability, Hyperphosphatemia, Hypocalce...	ORPHA:36913
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Ritscher-Schinzel Syndrome 1	Hypospadias, Ventricular septal defect, Hemivertebrae, Double outlet right ventricle, Low posteri...	OMIM:220210
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:3177
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Cryptorchidism, Low posterior hairline, Joint contracture of the hand,...	OMIM:179613
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv...	OMIM:215045
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Clubbing, Iron deficiency anemia, Clubbing of fingers, Hypoalbuminemia, Thrombocytosis, Hypoprote...	OMIM:226300
Distal Duplication 6P	Abnormal hair quantity, Sacral dimple, Cataract, Short neck, Abnormal eyelash morphology, Renal h...	ORPHA:1745
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr...	OMIM:239000
Koolen-De Vries Syndrome	Ureteral duplication, Hypopigmentation of hair, Cataract, Hypospadias, Bicuspid aortic valve, Ove...	ORPHA:96169
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Trisomy 17P	Skeletal muscle atrophy, Hypoplasia of penis, Urethral valve, Cataract, Short neck, Urethral sten...	ORPHA:261290
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Autism	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:607373
Congenital Rubella Syndrome	Hepatomegaly, Cataract, Corneal opacity, Ventricular septal defect, Thrombocytopenia, Splenomegal...	ORPHA:290
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Wide dist...	OMIM:614856
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Aggressive behavior, Enuresis, Self-injurious behavior, Compulsive behaviors, Attention deficit h...	OMIM:613670
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Highly arched eyebrow, Cryptorchidism, Repetitive compulsive behavior, Kyphosis, A...	ORPHA:352490
Diabetic Embryopathy	Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality of the pan...	ORPHA:1926
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Osteoporosis, Rickets, Depression, Iron deficiency anemia, Hypocalcemia, Throm...	OMIM:212750
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Hydronephrosis, Pulmonic stenosis	OMIM:264140
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom...	OMIM:259710
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Renal Caliceal Diverticuli-Deafness Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Carvajal Syndrome	Woolly hair, Dilated cardiomyopathy	ORPHA:65282
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormal repetitive mannerisms, Abnormal vertebral morphology, Attention deficit hyperactivity di...	OMIM:618709
Noonan Syndrome 4	Ureteral duplication, Curly hair, Ventricular septal defect, Short neck, Sparse eyebrow, Cryptorc...	OMIM:610733
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Cataract, Corneal opacity, Congenital abnormal hair pattern, Cryptorchidism, Abnormal h...	ORPHA:1867
Visceral Myopathy 2	Megacystis, Dysphagia	OMIM:619350
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase...	OMIM:613845
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal...	OMIM:201170
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos...	ORPHA:824
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone...	ORPHA:89936
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenici...	OMIM:619351
Hurler-Scheie Syndrome	Hepatomegaly, Corneal opacity, Camptodactyly of finger, Thenar muscle atrophy, Heparan sulfate ex...	OMIM:607015
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Cataract, Slow-growing hair, Abnormal eyelash morpholo...	ORPHA:573
X-Linked Dominant Chondrodysplasia Punctata	Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Cataract, Sparse eyelashes, Abnorm...	ORPHA:35173
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowing...	OMIM:620076
Gómez-López-Hernández Syndrome	Toenail dysplasia, Alopecia of scalp, Corneal opacity	ORPHA:1532
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Micrognathia, Coxa valga, Flat acetabular roof, Flattened epiphys...	ORPHA:163649
Morquio Syndrome C	Platyspondyly, Corneal opacity	OMIM:252300
Fucosidosis	Hepatomegaly, Decreased muscle mass, Corneal opacity, Cardiomegaly, Kyphosis, Abnormality of the ...	ORPHA:349
Schnitzler Syndrome	Increased bone mineral density, Splenomegaly, Leukocytosis, Arthritis, Anemia	ORPHA:37748
Stuve-Wiedemann Syndrome 1	Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, Short phalanx...	OMIM:601559
Erythrokeratodermia Variabilis	Alopecia, Cataract, Corneal opacity, Abnormal hair morphology, Generalized hirsutism, Abnormal te...	ORPHA:317
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Cataract, Ventricular septal defect, Elevated circulating aspartate aminotransferas...	OMIM:614876
Pseudohypoparathyroidism Type 1C	Calcinosis, Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Confusion, ...	ORPHA:79444
Hurler Syndrome	Hepatomegaly, Corneal opacity, Short neck, Heparan sulfate excretion in urine, Splenomegaly, Hypo...	OMIM:607014
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Short neck, Abnormality of the spleen,...	ORPHA:1834
Mucopolysaccharidosis-Plus Syndrome	Short neck, Synophrys, Flexion contracture, Low anterior hairline, Leukopenia, Coarse hair, Macro...	OMIM:617303
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Mucopolysaccharidosis, Type Iiid	Thoracic scoliosis, Short neck, Synophrys, Ovoid thoracolumbar vertebrae, Hypoplastic vertebral b...	OMIM:252940
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612926
Pseudohypoparathyroidism Type 1B	Calcinosis, Increased bone mineral density, Cortical subperiosteal resorption of humeral metaphys...	ORPHA:94089
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Cataract, Hypospadias, Corneal opacity, Ventricular s...	ORPHA:912
Pseudohypoparathyroidism Type 1A	Short metatarsal, Reduced bone mineral density, Choreoathetosis, Hypocalcemia, Hypocalcemic tetan...	ORPHA:79443
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Alpha-Mannosidosis	Hepatomegaly, Cataract, Corneal opacity, Short neck, Splenomegaly, Kyphosis, Macroglossia, Scoliosis	ORPHA:61
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ...	ORPHA:85184
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Sialidosis Type 1	Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Corneal opacity, Catar...	ORPHA:812
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Back pain, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaur...	OMIM:143400
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Ventricular septal defect, Sparse eyelashes, Concave nail, Abnormality of hair text...	OMIM:234050
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Joubert Syndrome 37	Hepatomegaly, Lumbar hyperlordosis, Cryptorchidism, Hydronephrosis, Sparse hair, Micropenis, Decr...	OMIM:619185
Hyperprolinemia, Type I	Hyperactivity, Aggressive behavior, Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Abnormal repe...	OMIM:239500
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Tremor, Abnormal subcutaneous fat tissue distribution, Flexion contracture, Hypoalbum...	OMIM:212065
Cardiomyopathy, Dilated, 1R	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:613424
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Transketolase Deficiency	Increased level of ribose in urine, Hepatomegaly, Cataract, Ventricular septal defect, Abnormal r...	ORPHA:488618
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ...	OMIM:144750
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Oculogyric crisis, Tremor, Leuk...	ORPHA:94093
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis	OMIM:125440
Naxos Disease	Curly hair, Sparse scalp hair, Abnormality of hair texture, Cardiomyopathy, Woolly hair	ORPHA:34217
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Craniofrontonasal Dysplasia	Hypospadias, Camptodactyly of finger, Congenital diaphragmatic hernia, Abnormality of hair textur...	ORPHA:1520
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Galactose Epimerase Deficiency	Hepatomegaly, Cataract, Splenomegaly, Jaundice, Aminoaciduria	ORPHA:79238
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Micrognathia, Thrombo...	OMIM:259720
Weaver Syndrome	Deep-set nails, Hypoplasia of penis, Abnormal fingernail morphology, Thin nail, Camptodactyly of ...	ORPHA:3447
3C Syndrome	Hypoplasia of penis, Hypospadias, Ventricular septal defect, Abnormal mitral valve morphology, Sh...	ORPHA:7
Paternal Uniparental Disomy Of Chromosome 1	Recurrent fractures, Hypercalcemia, Craniosynostosis, Abnormal dental enamel morphology, Progress...	ORPHA:251004
Trisomy 13	Cataract, Ventricular septal defect, Abnormal eyelash morphology, Cryptorchidism, Kyphosis, Abnor...	ORPHA:3378
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Corneal opacity, Ventricular septal defect, Dextrocardia, A...	ORPHA:99776
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Back pain, Aggressive behavio...	ORPHA:905
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Corneal opacity, Unilateral renal agenesis, Cryptorchidism, Acute leukemia, ...	ORPHA:281090
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
8P Inverted Duplication/Deletion Syndrome	Small hypothenar eminence, Dextrocardia, Frontal balding, Impulsivity, Short neck, Cryptorchidism...	ORPHA:96092
Fanconi Anemia, Complementation Group O	Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Abnormal heart morphology, Small then...	OMIM:613390
Sting-Associated Vasculopathy, Infantile-Onset	Elevated circulating C-reactive protein concentration, Joint stiffness, Leukopenia, Thrombocytosi...	OMIM:615934
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Brittle hair, Homocystinuria, Kyphoscoliosis, Ectopia lentis, Methioninuria, Mitral valve prolaps...	OMIM:236200
Cat-Eye Syndrome	Iris coloboma, Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:195
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Head titubation, Increased circulating ferritin concentration, Vestibular areflexia, Hypochromic ...	ORPHA:3240
Koolen-De Vries Syndrome	Atrial septal defect, Recurrent urinary tract infections, Cataract, Bicuspid aortic valve, Ventri...	OMIM:610443
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Hydroureter, Cataract, Megaloblastic anemia, Cardiomyop...	OMIM:222300
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Sacral dimple, Dextrocardia, Urethral atresia, Abnormality of the vertebral column, Transposition...	OMIM:314390
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Clouston Syndrome	Alopecia, Brittle hair, Cataract, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse e...	OMIM:129500
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ...	ORPHA:79414
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Cataract, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Cystic renal d...	OMIM:613730
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Micrognathia, Absent frontal sinuses, Abn...	OMIM:224300
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Short neck, Cryptorchidism, Sp...	OMIM:235255
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Pulmonary valve a...	ORPHA:210122
X-Linked Intellectual Disability, Schimke Type	Hip contracture, Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, ...	ORPHA:85285
Microcephaly-Micromelia Syndrome	Craniosynostosis, Micrognathia, Micromelia, Absent thumb, Absent radius, Humeroradial synostosis,...	OMIM:251230
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Hematuria, Posterior embryotoxon, Iris coloboma	ORPHA:1473
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Short neck, Cryptorchidism, Splenomegaly, Pancreatic lym...	ORPHA:1655
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste...	ORPHA:289176
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Brittle hair, Sparse eyebrow, Developmental cataract, Hydrocele testis, Hypertrophi...	OMIM:618810
Urofacial Syndrome 1	Recurrent urinary tract infections, Urethral valve, Hydroureter, Cryptorchidism, Urethral obstruc...	OMIM:236730
Congenital Sialidosis Type 2	Hepatomegaly, Cataract, Corneal opacity, Abnormality of the kidney, Hepatosplenomegaly, Developme...	ORPHA:93400
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Abnormal ...	OMIM:618494
Hurler Syndrome	Hepatomegaly, Corneal opacity, Abnormality of the tonsils, Abnormal heart valve morphology, Campt...	ORPHA:93473
Vacterl/Vater Association	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Congenital diaphr...	ORPHA:887
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc...	OMIM:307800
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Gm1 Gangliosidosis	Corneal opacity, Ventricular septal defect, Camptodactyly of finger, Hyperlordosis, Splenomegaly,...	ORPHA:354
Suleiman-El-Hattab Syndrome	Thick eyebrow, Ventricular septal defect, Highly arched eyebrow, Cryptorchidism, Synophrys, Atria...	OMIM:618950
Distal Triplication 15Q	Corneal dystrophy, Abnormality of the kidney, Kyphosis, Flexion contracture, Dilatation of the re...	ORPHA:314588
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Alopecia, Cataract, Sparse eyelashes, Skeletal muscle atrophy, Sparse eyebrow, Nail...	OMIM:615704
Chops Syndrome	Curly hair, Cataract, Ventricular septal defect, Thick hair, Cryptorchidism, Splenomegaly, Synoph...	OMIM:616368
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Intellectual Disability, Buenos-Aires Type	Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair, Abnormal cardiac septum morph...	ORPHA:3079
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Abnormal repetitive mannerisms, Agitation, Aggressive behavior	OMIM:617171
Braddock-Carey Syndrome 1	Curly hair, Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Hyper...	OMIM:619980
Hereditary Mucoepithelial Dysplasia	Alopecia, Cataract, Corneal dystrophy, Fine hair, Hematuria, Abnormality of the bladder, Sparse hair	ORPHA:1839
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur...	ORPHA:2704
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Encephalocraniocutaneous Lipomatosis	Atrial septal defect, Alopecia, Ventricular septal defect, Sclerocornea, Cryptorchidism, Hypoplas...	OMIM:613001
Sulfite Oxidase Deficiency, Isolated	Sulfocysteinuria, Ectopia lentis, Increased urinary sulfite level, Fine hair, Agitation, Decrease...	OMIM:272300
Schimke Immunoosseous Dysplasia	Short neck, Bilateral cryptorchidism, Abnormal T cell morphology, Coarse hair, Thoracic kyphosis,...	OMIM:242900
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Corneal opacity, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Spa...	OMIM:602400
Mucopolysaccharidosis, Type Ivb	Hepatomegaly, Corneal opacity, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid ...	OMIM:253010
Cardiofaciocutaneous Syndrome 2	Curly hair, Absent eyebrow, Fine hair, Mitral valve prolapse, Sparse hair	OMIM:615278
Immunodeficiency 92	Osteomyelitis, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytop...	OMIM:619652
Hawkinsinuria	Sparse hair, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Fine hair	ORPHA:2118
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Corneal opacity, Cryptorchidism, 3-Methylglutaconic aciduria, Scoliosis, Hypertrophic c...	ORPHA:496790
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Multiple Sulfatase Deficiency	Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Coarse hair, Mucopolysacchariduria, Thick ...	ORPHA:585
Mucopolysaccharidosis Type 3	Adenoiditis, Cardiomegaly, Synophrys, Flexion contracture, Abnormal form of the vertebral bodies,...	ORPHA:581
Autoerythrocyte Sensitization Syndrome	Impaired platelet adhesion, Autoimmune thrombocytopenia, Abnormal erythrocyte morphology, Depress...	ORPHA:324636
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
9Q21.13 Microdeletion Syndrome	Cryptorchidism, Abnormal heart morphology, Vertebral segmentation defect, Scoliosis, Hydronephrosis	ORPHA:531151
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Short ribs, Hypocal...	OMIM:607143
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splenomegaly, Leuko...	ORPHA:77297
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Joint contracture, Cataract, Abnormal repetitive mannerisms, Scoliosis	OMIM:617393
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Abnormal dental enamel morphology, Rec...	ORPHA:1782
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608636
Carpenter Syndrome 1	Sacral dimple, Hydroureter, Ventricular septal defect, Short neck, Cryptorchidism, Spina bifida o...	OMIM:201000
Cystinosis	Renal insufficiency, Proteinuria, Corneal opacity, Portal hypertension, Renal tubular dysfunction...	ORPHA:213
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Bicuspid aortic valve, Ventricular septal ...	ORPHA:261494
Trisomy 20P	Short neck, Low anterior hairline, Abnormal form of the vertebral bodies, Coarse hair, Vertebral ...	ORPHA:261318
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Kyphoscoliosis, Hyperlordosis, Cryptorchidism, Increased vertebral height, Renal hypoplasia, Fine...	OMIM:616817
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Corneal opacity, Low anterior hairline, Muscular dystrophy, Left ventricular hypertrophy	OMIM:613153
Multicentric Carpotarsal Osteolysis Syndrome	Renal insufficiency, Proteinuria, Corneal opacity, Congenital diaphragmatic hernia, Stage 5 chron...	OMIM:166300
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Image Syndrome	Cryptorchidism, Hypospadias, Hydronephrosis	ORPHA:85173
Scheie Syndrome	Aortic valve stenosis, Spondylolisthesis, Corneal opacity, Short neck	OMIM:607016
Isolated Polycystic Liver Disease	Back pain, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Multiple renal cysts	ORPHA:2924
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Thrombocytopenia, Micrognathia	ORPHA:1237
Harel-Yoon Syndrome	Corneal opacity, Developmental cataract, Distal amyotrophy, Scoliosis, Hypertrophic cardiomyopathy	OMIM:617183
Cardiofaciocutaneous Syndrome 3	Curly hair, Ventricular septal defect, Short neck, Pulmonic stenosis, Scoliosis, Atrial septal de...	OMIM:615279
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Cataract, Sparse eyelashes, Ventricular septal hypertrophy, Abnormal ...	OMIM:615280
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Cardiomegaly, Hypoplastic toenails, Increased muscle lipid content, Knee fl...	OMIM:608836
Syndromic Diarrhea	Brittle hair, Bicuspid aortic valve, Abnormality of the liver, Hepatic fibrosis, Hypoplasia of th...	ORPHA:84064
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Splenom...	OMIM:620010
Mucopolysaccharidosis Type 1	Corneal opacity, Abnormality of the tonsils, Abnormal heart valve morphology, Splenomegaly, Low a...	ORPHA:579
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Curly hair, Aggressive behavior, Hyperlordosis, Mitral valve prolapse, Self-injurious behavior, C...	OMIM:300986
Infantile Sialic Acid Storage Disease	Hepatomegaly, Fair hair, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Nephrotic syndrome, ...	OMIM:269920
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Curly hair, Hyperactivity, Kyphoscoliosis, Aggressive behavior, Sparse eyebrow, Hyposegmentation ...	OMIM:620075
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Smith-Magenis Syndrome	Hyperactivity, Synophrys, Abnormal renal morphology, Self hugging, Head-banging, Abnormal heart m...	OMIM:182290
Musculocontractural Ehlers-Danlos Syndrome	Decreased muscle mass, Abnormal heart valve morphology, Cervical kyphosis, Kyphoscoliosis, Crypto...	ORPHA:2953
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Ventricular septal defect, Renal hypoplasia, Coarse hair, Nail dystrophy,...	ORPHA:75389
Trichohepatoenteric Syndrome 2	Hepatomegaly, Brittle hair, Chronic hepatitis, Uncombable hair, Cirrhosis, Sparse hair, Woolly ha...	OMIM:614602
Hypodontia-Dysplasia Of Nails Syndrome	Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,...	ORPHA:2228
Zaki Syndrome	Sparse scalp hair, Sacral dimple, Renal agenesis, Congenital diaphragmatic hernia, Hypoplastic to...	OMIM:619648
Angioma Serpiginosum, X-Linked	Sparse hair, Nail dystrophy, Fine hair	OMIM:300652
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, Portal fibro...	ORPHA:369
Intellectual Developmental Disorder With Autism And Speech Delay	Abnormal repetitive mannerisms	OMIM:606053
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Neurogenic bladder, Skeletal muscle atrophy, Elevated circulating aspartate aminotr...	OMIM:608779
Pycnodysostosis	Joint laxity, Increased bone mineral density, Rhizomelia, Micrognathia, Lower limb asymmetry, Gen...	ORPHA:763
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa...	ORPHA:77259
Beta-Ketothiolase Deficiency	Thrombocytosis, Leukocytosis, Hyperuricemia, Hyperammonemia	ORPHA:134
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha...	OMIM:268305
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Ventricular septal defect, Cardiomegaly, Short neck, Flexion contracture, Hypertroph...	OMIM:616897
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Cryptorchidism, Fine hair	ORPHA:1174
Orofaciodigital Syndrome Ix	Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly	OMIM:258865
Inverted Duplicated Chromosome 15 Syndrome	Hyperactivity, Ventricular septal defect, Unilateral renal agenesis, Aggressive behavior, Cryptor...	ORPHA:3306
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Elbow flexion contracture, Small nail, Abnormal repetitive ma...	OMIM:619470
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria	OMIM:230350
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Microphthalmia, Lenz Type	Hydroureter, Hypospadias, Cataract, Camptodactyly of finger, Renal hypoplasia/aplasia, Hyperlordo...	ORPHA:568
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Osteopetrosis, Anemia	OMIM:615085
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Camptodactyly of finger, Abnormal hair pattern, Highly arched eyebrow, Short...	ORPHA:2083
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Johanson-Blizzard Syndrome	Hypoplasia of penis, Alopecia, Hypospadias, Dextrocardia, Abnormal hair pattern, Abnormality of t...	ORPHA:2315
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Basel-Vanagaite-Smirin-Yosef Syndrome	Cataract, Hypospadias, Ventricular septal defect, Kyphosis, Microcornea, Sparse hair, Scoliosis, ...	OMIM:616449
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane...	OMIM:243150
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Atrial septal defect, Pleural lymphangiectasia, Pericardial lymphangiectasia, Ventricular septal ...	OMIM:235510
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Synophrys, Fine hair, Nephrotic syndrome, Glomerula...	OMIM:619428
Trichohepatoenteric Syndrome 1	Brittle hair, Hepatic fibrosis, Sparse hair, Hepatomegaly, Hypospadias, Increased mean platelet v...	OMIM:222470
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han...	ORPHA:56305
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Dry hair, Flexion contracture, Microcornea, Premature graying of hair, L...	ORPHA:90324
19Q13.11 Microdeletion Syndrome	Cataract, Ventricular septal defect, Hypospadias, Supernumerary nipple, Cryptorchidism, Fine hair...	ORPHA:217346
Noonan Syndrome 8	Atrial septal defect, Curly hair, Ventricular septal defect, Short neck, Cryptorchidism, Pulmonic...	OMIM:615355
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Increased urine succinate level, Elevated circulating aspa...	OMIM:619048
Mucopolysaccharidosis, Type Iva	Hepatomegaly, Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Hyperlordosis,...	OMIM:253000
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Sacral dimple, Highly arched eyebrow, Trichiasis, Neutropenia, Renal hypopl...	OMIM:618460
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep...	OMIM:600081
Lowry-Maclean Syndrome	Hypospadias, Corneal opacity, Congenital diaphragmatic hernia, Bilateral cryptorchidism, Abnormal...	ORPHA:2409
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Noonan Syndrome 6	Juvenile myelomonocytic leukemia, Curly hair, Long eyebrows, Short neck, Cryptorchidism, Low post...	OMIM:613224
Short Stature, Developmental Delay, And Congenital Heart Defects	Ventricular septal defect, Abnormal repetitive mannerisms, Developmental cataract, Self-injurious...	OMIM:617044
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Neutrophilia, Swelling of proximal interphalangeal joints, Eosinophilia, Ankle swe...	ORPHA:3260
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Hepatomegaly, Abnormal heart valve morphology, Short neck, Splenomeg...	OMIM:230500
Mitochondrial Complex I Deficiency, Nuclear Type 18	Wide anterior fontanel, Hydroureter, Hydronephrosis	OMIM:618240
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Attention deficit hyperacti...	OMIM:618504
Netherton Syndrome	Sparse scalp hair, Sparse eyelashes, Ectopic kidney, Sparse eyebrow, Abnormal hair morphology, Fi...	ORPHA:634
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Proteinuria, Cor pulmonale, Macronodular cirrhosis, Abnormal T cell morphology, Nephrotic syndrom...	OMIM:215250
Marden-Walker Syndrome	Skeletal muscle atrophy, Epispadias, Abnormal form of the vertebral bodies, Abnormal penis morpho...	ORPHA:2461
Costello Syndrome	Keratoconus, Deep-set nails, Ventricular septal defect, Abnormal fingernail morphology, Concave n...	ORPHA:3071
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg...	OMIM:615285
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea...	OMIM:191800
Joubert Syndrome 35	Multicystic kidney dysplasia, Recurrent urinary tract infections, Highly arched eyebrow, Synophry...	OMIM:618161
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Omphalocele, Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial ...	OMIM:616300
Mucopolysaccharidosis Type 7	Anterior beaking of lower thoracic vertebrae, Corneal opacity, Short neck, Splenomegaly, Hepatiti...	ORPHA:584
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
Intellectual Developmental Disorder, Autosomal Recessive 58	Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior	OMIM:617270
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Recurrent hand flapping, Abnormal repetitive mannerisms, Dysphagia	OMIM:617862
Microphthalmia, Syndromic 9	Renal malrotation, Truncus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia...	OMIM:601186
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus, Abnormal circ...	OMIM:620306
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Hypoplasia of penis, Slow-growing hair, Short neck, Abnormal hair morphology, Cryptorchidism, Kyp...	ORPHA:3082
Neuraminidase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Proteinu...	OMIM:256550
6P22 Microdeletion Syndrome	Hydronephrosis, Short neck	ORPHA:251046
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Kyphoscoliosis, Aggressive behavior, Synophrys, Abnormal repetitive mannerisms	OMIM:615541
Mucolipidosis Iv	Abnormal abdomen morphology, Corneal opacity, Opacification of the corneal stroma	OMIM:252650
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Arthrogryposis multiplex congenita, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615282
3-Hydroxy-3-Methylglutaric Aciduria	Leukocytosis, Hyperammonemia, Leukopenia, Hyperuricemia, Thrombocytosis, Anemia	ORPHA:20
2Q23.1 Microdeletion Syndrome	Hypoplasia of penis, Hyperactivity, Highly arched eyebrow, Cryptorchidism, Synophrys, Paroxysmal ...	ORPHA:228402
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Hyperactivity, Hypospadias, Hyperopic astigmatism, Fine hair, Astigmatism, Tics, Inappropriate la...	ORPHA:363686
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Leber Congenital Amaurosis 1	Keratoconus, Hepatomegaly, Cataract, Hyperthreoninuria, Eye poking	OMIM:204000
Brunet-Wagner Neurodevelopmental Syndrome	Abnormal repetitive mannerisms, Self-injurious behavior, Low anterior hairline, Thin eyebrow	OMIM:619690
Tangier Disease	Hepatomegaly, Splenomegaly, Facial diplegia, Distal amyotrophy, Nail dystrophy, Nail dysplasia, O...	OMIM:205400
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal...	OMIM:301068
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Cirr...	OMIM:613313
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Dextrocardia, Thoracolumbar scoliosis, Ureteral agenesis, Co...	ORPHA:2437
Williams-Beuren Region Duplication Syndrome	Unilateral renal agenesis, Cryptorchidism, Long eyelashes, Horizontal eyebrow, Attention deficit ...	OMIM:609757
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Brittle hair, Pili canaliculi	OMIM:617252
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis, Small nail	OMIM:235760
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Short ...	OMIM:258315
Interstitial Lung And Liver Disease	Clubbing, Intraalveolar phospholipid accumulation, Hyperammonemia, Thrombocytosis, Anemia	OMIM:615486
Mucoepithelial Dysplasia, Hereditary	Alopecia, Cataract, Eosinophilia, Cor pulmonale, Keratoconjunctivitis, Hematuria, Coarse hair, Na...	OMIM:158310
Fg Syndrome 3	Hyperactivity, Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair, Joint contracture	OMIM:300406
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Lumbar hyperlordosis, Corneal opacity, Ovoid vertebral bodies, Kyphoscoliosis, Ante...	OMIM:253200
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Endocardial fibrosis, Left ...	OMIM:612158
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity, Increased intervertebral space, Thoracic platyspondyly, Beaking of vertebral bod...	OMIM:618961
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa...	OMIM:112250
Diamond-Blackfan Anemia 1	11 pairs of ribs, Macrocytic anemia, Congenital hypoplastic anemia, Micrognathia, Short thumb, Ab...	OMIM:105650
Camurati-Engelmann Disease	Reduced subcutaneous adipose tissue, Increased bone mineral density, Diaphyseal sclerosis, Genu v...	OMIM:131300
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Thin bony cortex, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of th...	OMIM:264700
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Short neck, Pericardial effusion, Kyphosis, Hepatosplenomegaly, Abnormal cardiac se...	OMIM:608776
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Camptodactyly of finger, Kyphosis, Coarse hair, Joint contracture of the 5th finger...	ORPHA:1883
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Anorexia, Splenomegaly, Anemia, Cardiomyopathy, Neutropenia, P...	ORPHA:79312
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	OMIM:615688
Mucopolysaccharidosis Type 6	Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Macr...	ORPHA:583
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Ventricular septal defect, Dilated cardiomyopathy, Arthrogryposis multip...	OMIM:607598
Orthostatic Hypotension 1	Hypomagnesemia, Brachydactyly, Joint hypermobility, Increased blood urea nitrogen	OMIM:223360
Schwartz-Jampel Syndrome	Elevated circulating creatine kinase concentration, Micromelia, Micrognathia, Coxa vara, Wrist fl...	ORPHA:800
Gm1-Gangliosidosis, Type Iii	Skeletal muscle atrophy, Kyphosis, Platyspondyly, Scoliosis, Opacification of the corneal stroma,...	OMIM:230650
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Bicuspid aortic valve, Hypospadias, Ventricular septal defect, Highly arched eyebrow, Cryptorchid...	ORPHA:500159
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Increased skull ossification, Craniofacial osteosclerosis, Metaphyseal widening, Diaphyseal scler...	OMIM:618476
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Hyposp...	OMIM:301045
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Abnormality of the cervical spine, Flexion contracture of finger, Hypospadias, Corneal opacity, U...	ORPHA:464311
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Conjun...	ORPHA:2890
Frontometaphyseal Dysplasia 1	Skeletal muscle atrophy, Scapular winging, Hydroureter, Interphalangeal joint contracture of fing...	OMIM:305620
Microcephaly 26, Primary, Autosomal Dominant	Prominent eyelashes, Scoliosis, Patent foramen ovale, Hydronephrosis, Stereotypical hand wringing	OMIM:619179
Blepharophimosis-Impaired Intellectual Development Syndrome	Sparse scalp hair, Recurrent urinary tract infections, Hypospadias, Sparse eyelashes, Highly arch...	OMIM:619293
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair...	ORPHA:90368
Developmental And Epileptic Encephalopathy 107	Abnormal repetitive mannerisms	OMIM:620033
Mucopolysaccharidosis Type 4	Abnormal heart valve morphology, Corneal opacity, Hyperlordosis, Short neck, Kyphosis, Spinal can...	ORPHA:582
Micro Syndrome	Hypoplasia of penis, Cataract, Cryptorchidism, Kyphosis, Generalized hirsutism, Abnormal localiza...	ORPHA:2510
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm...	ORPHA:85445
X-Linked Intellectual Disability Due To Gria3 Mutations	Facial hypotonia, Aggressive behavior, Cryptorchidism, Self-mutilation, Kyphosis, Scoliosis, Micr...	ORPHA:364028
Noonan Syndrome 5	Curly hair, Short neck, Sparse eyebrow, Cryptorchidism, Fine hair, Pulmonic stenosis, Small nail,...	OMIM:611553
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Corneal opacity, Lymphadenopathy	ORPHA:79292
Cerebellar-Facial-Dental Syndrome	Cataract, Ventricular septal defect, Foot joint contracture, Short neck, Sparse eyebrow, Cryptorc...	ORPHA:444072
Congenital Disorder Of Glycosylation, Type Iig	Renal insufficiency, Thoracic scoliosis, Hypospadias, Kyphoscoliosis, Short neck, Hemolytic-uremi...	OMIM:611209
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Kyphosis, Myopathy, Macrovesicular hepatic steatosis, Scoliosis, Hypertrophic cardi...	OMIM:618234
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph...	ORPHA:100024
Kabuki Syndrome	Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, High...	ORPHA:2322
Caffey Disease	Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo...	OMIM:114000
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Micrognathia, Absent thumb, Erythroid hypoplasia, ...	ORPHA:124
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronephrosis, Thrombocyto...	OMIM:598500
Otopalatodigital Syndrome Type 2	Omphalocele, Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, T...	ORPHA:90652
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Hypospadias, Ventricular septal defect, ...	OMIM:214100
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le...	OMIM:300554
Developmental And Epileptic Encephalopathy 66	Ventricular septal defect, Dextrocardia, Cryptorchidism, Synophrys, Astigmatism, Neutropenia, Atr...	OMIM:618067
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Dilated cardiomyopathy, Azoospermia, Cardiomyopathy, Cirrhosis	OMIM:602390
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse scalp hair, Hypospadias, Ventricular septal defect, Aggressive behavior, Sparse eyebrow, K...	ORPHA:464738
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Hypospadias, Ventricular septal defect, Sclerocornea, Cryptorchidism, Hemive...	ORPHA:77298
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen	ORPHA:94059
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa...	OMIM:614921
Cronkhite-Canada Syndrome	Hepatomegaly, Alopecia, Cataract, Abnormal fingernail morphology, Anorexia, Hypoplastic toenails,...	ORPHA:2930
Schimke Immuno-Osseous Dysplasia	Lymphopenia, Lumbar hyperlordosis, Proteinuria, Corneal opacity, Ovoid vertebral bodies, Minimal ...	ORPHA:1830
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation...	OMIM:208540
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Recurrent urinary tract infections, Cor triatriatum, Intermittent thrombocytopenia,...	OMIM:612541
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair	OMIM:129490
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Ventricular septal defect, Short neck, Thrombocytopenia, Micronodular...	OMIM:606003
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Recurrent urinary tract infections, Hypospadias, Ventricular septal defect, Cryptorchidism, Horse...	OMIM:619103
Femoral-Facial Syndrome	Inguinal hernia, Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Radioulnar syn...	ORPHA:1988
Dyrk1A-Related Intellectual Disability Syndrome	Abnormality of the cervical spine, Hyperactivity, Multiple joint contractures, Hypospadias, Corne...	ORPHA:464306
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomeg...	ORPHA:59303
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Situs inversus t...	OMIM:615415
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Corneal opacity, Aggressive behavior, Myopic astigmatism, Microcornea, Astigmatism, Agi...	OMIM:152950
Intellectual Developmental Disorder, Autosomal Recessive 41	Splenomegaly, Hepatomegaly, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615637
Developmental And Epileptic Encephalopathy 58	Abnormal repetitive mannerisms	OMIM:617830
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Femoral hernia, Osteomalacia,...	ORPHA:198
7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Atrial septal defect, Abnormal repeti...	ORPHA:96121
Alagille Syndrome	Keratoconus, Hepatomegaly, Ventricular septal defect, Corneal dystrophy, Renal hypoplasia/aplasia...	ORPHA:52
Cardiofaciocutaneous Syndrome	Brittle hair, Abnormal heart valve morphology, Slow-growing hair, Short neck, Abnormal eyelash mo...	ORPHA:1340
Duane-Radial Ray Syndrome	Atrial septal defect, Renal malrotation, Cataract, Ventricular septal defect, Facial palsy, Renal...	OMIM:607323
Vitamin D-Dependent Rickets, Type 2A	Thin bony cortex, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of th...	OMIM:277440
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Sparse eyelashes, Kyphoscoliosis, Short neck, Sparse eyebrow, Hemivertebrae, Punctate v...	OMIM:302960
Intellectual Developmental Disorder, Autosomal Dominant 48	Hyperactivity, Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Highly arched eyebr...	OMIM:617751
Dysostosis, Stanescu Type	Increased bone mineral density, Bowing of the long bones, Abnormal dental enamel morphology, Micr...	ORPHA:1798
Focal Dermal Hypoplasia	Acute hepatic failure, Multicystic kidney dysplasia, Alopecia, Corneal opacity, Ventricular septa...	ORPHA:2092
Choroidal Atrophy-Alopecia Syndrome	Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye...	ORPHA:1433
Chromosome 17Q12 Deletion Syndrome	Pica, Renal cyst, Multicystic kidney dysplasia, Highly arched eyebrow, Sparse eyebrow, Cryptorchi...	OMIM:614527
Tricho-Dento-Osseous Syndrome	Finger clinodactyly, Increased bone mineral density, Enamel hypomineralization, Dental enamel pits	ORPHA:3352
Alpha-Heavy Chain Disease	Hepatomegaly, Alopecia, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Cryptorchidism, Jaundi...	OMIM:214110
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Giant Axonal Neuropathy	Facial palsy, Scoliosis, Woolly hair, Limb muscle weakness, Abnormality of the Achilles tendon, P...	ORPHA:643
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypospadias, Ventricular septal defect, Renal agenesis, Kyphoscoliosis, Cryptorchidism, Abnormal ...	OMIM:301040
Tetrasomy 15Q26	Kyphoscoliosis, Horseshoe kidney, Camptodactyly, Atrial septal defect, Hydronephrosis	OMIM:614846
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Ventricular septa...	OMIM:613404
Cat Eye Syndrome	Atrial septal defect, Ventricular septal defect, Renal agenesis, Biliary atresia, Horseshoe kidne...	OMIM:115470
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytosis, Hepatosple...	OMIM:612840
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Impulsivity, Aggressive behavior, Abnormal repetitive mannerisms, Lens coloboma, Renal hypoplasia...	OMIM:618914
Adams-Oliver Syndrome 6	Ventricular septal defect, Portal hypertension, Hypoplastic toenails, Splenomegaly, Renal hypopla...	OMIM:616589
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Curly hair, Slow-growing hair, Short neck, Absent eyelashes, Splenomegaly, Tongue...	OMIM:115150
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cataract, Limb joint contracture, Cryptorchidism, Atrial septal defect, Patent foramen ovale, Hyd...	OMIM:620327
Roifman Syndrome	Hepatomegaly, Noncompaction cardiomyopathy, Hip contracture, Ventricular septal defect, Eosinophi...	OMIM:616651
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Wide anterior fontanel, Synophrys, Lon...	OMIM:619064
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ...	OMIM:616084
Leopard Syndrome 3	Curly hair, Short neck, Low posterior hairline, Abnormal aortic valve morphology, Abnormal mitral...	OMIM:613707
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric...	OMIM:225060
Distal Deletion 12Q	Hyperactivity, Unilateral cryptorchidism, Kyphoscoliosis, Ectopic kidney, Short neck, Wide anteri...	ORPHA:96149
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Abnormal repetitive mannerisms, Inappropriate laughter, Aggressive behavior, Bruxism	OMIM:619150
Cri-Du-Chat Syndrome	Hyperactivity, Cataract, Hypospadias, Diastasis recti, Abnormality of the kidney, Aggressive beha...	OMIM:123450
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Urinary incontinence, Aggressive behavior, Inappropriate behavior, Disinhibition, A...	OMIM:600795
Cockayne Syndrome Type 1	Foot joint contracture, Scarring, Tremor, Increased blood urea nitrogen, Enamel hypoplasia, Anemia	ORPHA:90321
Noonan Syndrome 7	Curly hair, Short neck, Low posterior hairline, Impaired oropharyngeal swallow response, Pulmonic...	OMIM:613706
Osteopathia Striata-Cranial Sclerosis Syndrome	Increased bone mineral density, Micrognathia, High iliac wing, Osteopetrosis, Large iliac wing, F...	ORPHA:2780
Vulto-Van Silfhout-De Vries Syndrome	Sacral dimple, Aggressive behavior, Widow's peak, Fine hair, Horizontal eyebrow	OMIM:615828
Orofaciodigital Syndrome Xv	Hydronephrosis	OMIM:617127
Olmsted Syndrome 1	Subungual hyperkeratosis, Corneal opacity, Flexion contracture, Nail dystrophy, Nail dysplasia, O...	OMIM:614594
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Clinodactyly of the 5th finger, Increased bone mineral density, Osteopetrosis, Micrognathia	OMIM:617306
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Arthritis, Iron deficiency anemia, Lymphoc...	OMIM:301074
Brucellosis	Osteomyelitis, Thrombocytosis, Elevated circulating C-reactive protein concentration, Hyperspleni...	ORPHA:1304
Noonan Syndrome 10	Atrial septal defect, Curly hair, Ventricular septal defect, Prominent corneal nerve fibers, Shor...	OMIM:616564
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Copper accumu...	OMIM:616828
Alg9-Cdg	Short neck, Right ventricular dilatation, Abnormal left ventricular outflow tract morphology, Atr...	ORPHA:79328
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Corneal opacity, Congenital diaphragmatic hernia, Shor...	ORPHA:2059
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Abnormal c...	OMIM:241530
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor...	ORPHA:400
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Cardiomegaly, Splenomegaly, Azoospermia, C...	OMIM:235200
Chromosome 5P13 Duplication Syndrome	Low posterior hairline, Self-injurious behavior, Astigmatism, Sparse hair, Compulsive behaviors, ...	OMIM:613174
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis	ORPHA:1522
46,Xy Sex Reversal 4	Micrognathia, Distal symphalangism, Elevated circulating creatinine concentration, Increased bloo...	OMIM:154230
Mucopolysaccharidosis Type 2	Irregularity of vertebral bodies, Abnormal tricuspid valve morphology, Abnormal repetitive manner...	ORPHA:580
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Genitopatellar Syndrome	Sparse scalp hair, Multicystic kidney dysplasia, Hip contracture, Cryptorchidism, Fine hair, Knee...	ORPHA:85201
Sialuria	Hepatomegaly, Splenomegaly, Synophrys, Hirsutism, Low posterior hairline, Macroglossia, Hypoplast...	OMIM:269921
Werner Syndrome	Increased bone mineral density, Lipoatrophy, Lipodystrophy, Rocker bottom foot, Joint stiffness, ...	ORPHA:902
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail	ORPHA:1882
Mucolipidosis Ii Alpha/Beta	Brittle hair, Cardiomegaly, Sparse hair, Megalocornea, Hepatomegaly, Thoracolumbar kyphoscoliosis...	OMIM:252500
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Takenouchi-Kosaki Syndrome	Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Highly arched eyebrow, Cr...	OMIM:616737
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Vertebral...	ORPHA:373
Trichodental Dysplasia	Sparse hair, Brittle hair, Slow-growing hair, Fine hair	OMIM:601453
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Acro-Renal-Ocular Syndrome	Renal malrotation, Vertebral fusion, Cataract, Renal hypoplasia/aplasia, Horseshoe kidney, Microc...	ORPHA:959
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Sparse eyebrow, Micropenis, Reduced hair sulfur content, Sparse ...	OMIM:300953
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Left ventricular hypertrophy, Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial...	OMIM:601493
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor...	ORPHA:113
Pelvis-Shoulder Dysplasia	Lumbar hyperlordosis, Camptodactyly of finger, Prominent protruding coccyx, Abnormal form of the ...	ORPHA:2839
Oculoskeletodental Syndrome	Hepatomegaly, Renal agenesis, Cryptorchidism, Splenomegaly, Low anterior hairline, Hypercalciuria...	OMIM:618440
Lcat Deficiency	Hemolytic anemia, Renal insufficiency, Proteinuria, Corneal opacity, Stage 5 chronic kidney disea...	ORPHA:650
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Propionic Acidemia	Hepatomegaly, Organic aciduria, Cardiomyopathy	ORPHA:35
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cataract, Splenomegaly, Jaundic...	OMIM:251290
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thick eyebrow, Scapular winging, Ventricular septal defect, Aggressive behavior, Kyphosis, Synoph...	OMIM:617061
N-Acetylaspartate Deficiency	Abnormal repetitive mannerisms, Self-mutilation	OMIM:614063
Scheie Syndrome	Splenomegaly, Hepatomegaly, Mucopolysacchariduria, Corneal opacity	ORPHA:93474
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Thic...	OMIM:127000
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Alpha-Mannosidosis, Adult Form	Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly, Oligosacchariduria, Macroglossia	ORPHA:309288
Cleidocranial Dysplasia 1	Micrognathia, Absent frontal sinuses, Short middle phalanx of the 2nd finger, Coxa vara, Hypoplas...	OMIM:119600
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Abnormal ...	ORPHA:453499
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Subungual hyperkeratosis, Right ventricular ...	OMIM:601214
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, Coarse hair, Lymphopenia	OMIM:605309
3Mc Syndrome 1	Conjunctival telangiectasia, Sacral dimple, Ventricular septal defect, Diastasis recti, Highly ar...	OMIM:257920
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Micrognathia, Flexion contracture, Tibial bowing, Hypoplastic iliac wing, Small proximal tibial e...	ORPHA:96334
Ritscher-Schinzel Syndrome 4	Curly hair, Impulsivity, Aggressive behavior, Cryptorchidism, Scoliosis, Dysphagia, Micropenis, A...	OMIM:619435
Wagro Syndrome	Cataract, Proteinuria, Corneal opacity, Aggressive behavior, Agitation, Compulsive behaviors, Ani...	OMIM:612469
Mucolipidosis Iii Gamma	Hyperlordosis, Short neck, Kyphosis, Scoliosis, Opacification of the corneal stroma, Aortic valve...	OMIM:252605
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hepatomegaly, Hyperactivity, Highly arched eyebrow, Aggressive behavior, Attention deficit hypera...	OMIM:618342
Teebi-Shaltout Syndrome	Ureteral stenosis, Ventricular septal defect, Slow-growing hair, Highly arched eyebrow, Low anter...	OMIM:272950
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair	OMIM:616099
Griscelli Syndrome	Hepatomegaly, Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morpholog...	ORPHA:381
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Absent nipple, Hemivertebrae, Mitral valve prolapse, Scoliosis, Ureteral triplication, Hydronephr...	OMIM:104350
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Hypospadias, Abnormal pulmonary valve morphology, Camptodactyly of finger, Abnormal...	ORPHA:1194
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Brittle hair, Hypospadias, Oral-pharyngeal dysphagia, Astigmatism, Scoliosis, Atrial septal defec...	OMIM:619184
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Abnormal repetitive mannerisms, Anis...	OMIM:618653
Mosaic Trisomy 8	Decreased testicular size, Corneal opacity, Camptodactyly of finger, Short neck, Cryptorchidism, ...	ORPHA:96061
Cardiac Valvular Dysplasia 1	Hydroureter, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pul...	OMIM:212093
Prune Belly Syndrome	Hydroureter, Cryptorchidism, Aplasia of the abdominal wall musculature, Congenital posterior uret...	OMIM:100100
Potocki-Lupski Syndrome	Hyperactivity, Oral-pharyngeal dysphagia, Patent foramen ovale, Abnormal renal morphology, Scolio...	OMIM:610883
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Cataract, Renal agenesis, Microcornea, Hydronephrosis, Premature gr...	ORPHA:1297
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Osteoarthritis, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bow...	OMIM:602111
Multiple Sulfatase Deficiency	Hepatomegaly, Corneal opacity, Splenomegaly, Hypoplastic vertebral bodies, Mucopolysacchariduria	OMIM:272200
Bartsocas-Papas Syndrome	Corneal opacity, Alopecia totalis, Renal hypoplasia/aplasia, Hypoplastic toenails, Popliteal pter...	ORPHA:1234
2Q32Q33 Microdeletion Syndrome	Aggressive behavior, Fine hair, Attention deficit hyperactivity disorder, Sparse hair, Decreased ...	ORPHA:251019
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Increased bone mineral density, Inguinal hernia, Femoral hernia, Abnormal dent...	ORPHA:2658
Hypocalcemic Vitamin D-Dependent Rickets	Thin bony cortex, Enlargement of the ankles, Osteomalacia, Irregular, rachitic-like metaphyses, S...	ORPHA:289157
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Curly hair, Curly eyelashes, Short neck, Cryptorchidism, Multiple rows of eyelashes, Cuboid-shape...	ORPHA:163654
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Aggressive behavior, Self-injuri...	ORPHA:313892
Leopard Syndrome 2	Curly hair, Hypertrophic cardiomyopathy, Short neck	OMIM:611554
Melnick-Needles Syndrome	Abnormal cardiac septum morphology, Scoliosis, Vesicoureteral reflux, Hydronephrosis, Anisospondyly	ORPHA:2484
Trisomy 1Q	Multicystic kidney dysplasia, Ventricular septal defect, Camptodactyly of finger, Congenital diap...	ORPHA:261344
3Mc Syndrome 3	Sacral dimple, Corneal opacity, Diastasis recti, Highly arched eyebrow, Cryptorchidism, Horseshoe...	OMIM:248340
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Facial palsy, Supernumerary nipple, Camptodactyly of finger, Sparse...	ORPHA:261349
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Skeletal muscle atrophy, Scapula...	ORPHA:26791
Intellectual Developmental Disorder, Autosomal Dominant 52	Scapular winging, Hyperactivity, Lumbar hyperlordosis, Bilateral cryptorchidism, Cryptorchidism, ...	OMIM:617796
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Lymphadenopathy, Macroglossia, ...	ORPHA:2221
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Ventricular septal defect, Short neck, Cryptorchidism, Attention deficit hyperactivity disorder, ...	OMIM:620073
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Short metacarpal, Rhizomelia, Bowing of the long bones, Aplastic ...	ORPHA:50945
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Renal dysplasia, Sacral dimple, Cataract, Astigmatism, Scoliosis, Atrial septal defect, Unilatera...	OMIM:300968
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti	OMIM:607903
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Cryptorchidism, Spina bifida occulta, Hydronephrosis	OMIM:618060
Foxg1 Syndrome	Kyphoscoliosis, Scoliosis, Bruxism, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter...	ORPHA:561854
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma	OMIM:608470
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio...	OMIM:212140
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, P...	OMIM:603671
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Micropenis, Hepatic steatosis, Self-mutilation, Hemolytic anemia, Hepatomegaly,...	OMIM:619487
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Cholestasis, Hepat...	OMIM:615630
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Hepatic ste...	ORPHA:1606
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Bicuspid aortic valve, Ventricular septal defect, Supernumerary ...	ORPHA:457279
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Paronychia, Renal cyst, Aplasia/Hypoplasia of the bladder, Ureterocele, Abnor...	ORPHA:79404
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia...	ORPHA:3035
Vesicoureteral Reflux 3	Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Hydroureter, Grade III vesico...	OMIM:613674
Stromme Syndrome	Accessory spleen, Cataract, Sclerocornea, Bilateral renal hypoplasia, Microcornea, Hydronephrosis...	OMIM:243605
Hemochromatosis, Type 4	Hepatomegaly, Cataract, Cardiomyopathy, Cirrhosis, Hepatic steatosis, Anemia	OMIM:606069
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Abnormality of the urethra, Scarring alopecia of scalp, Flexion contracture, Apl...	ORPHA:158684
Intellectual Developmental Disorder, Autosomal Dominant 34	Curly hair, Synophrys, Coarse hair, Bruxism, Abnormal repetitive mannerisms	OMIM:616351
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Hepatomegaly, Alopecia, Brittle hair	ORPHA:50812
Lopes-Maciel-Rodan Syndrome	Kyphosis, Bruxism, Agitation, Scoliosis, Dysphagia, Abnormal repetitive mannerisms	OMIM:617435
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Micrognathia, Small hand, Short foot, Hyperphosphatemia, Hypocalcemia, Sho...	OMIM:241410
Split Cord Malformation	Back pain, Urinary incontinence, Functional abnormality of the bladder, Hemivertebrae, Renal dupl...	ORPHA:573278
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:617820
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep...	ORPHA:3467
Gaucher Disease	Osteopenia, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent fractures, Ele...	ORPHA:355
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Renal hypoplasia, Renal cyst, Fine hair, Hepatic fibrosis, Polycystic kidney dysplas...	OMIM:614091
Lateral Meningocele Syndrome	Vertebral fusion, Neurogenic bladder, Decreased muscle mass, Bicuspid aortic valve, Ventricular s...	OMIM:130720
Cerebellofaciodental Syndrome	Cataract, Ventricular septal defect, Aggressive behavior, Sparse eyebrow, Cryptorchidism, Short n...	OMIM:616202
Dubowitz Syndrome	Sparse scalp hair, Sacral dimple, Cataract, Hypospadias, Abnormal fingernail morphology, Abnormal...	ORPHA:235
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Woolly hair, Right ventricular cardiomyopathy	OMIM:611528
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia, Hyperphosphaturia, Corneal opacity, Kyphoscoliosis, Horseshoe kidney	OMIM:163200
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Dextrocardia, Congenital diaphragmatic hernia, Abnormal heart morph...	ORPHA:261197
1Q21.1 Microdeletion Syndrome	Cataract, Cryptorchidism, Hydronephrosis, Abnormal cardiac septum morphology, Attention deficit h...	ORPHA:250989
Trisomy 8P	Sacral dimple, Multiple joint contractures, Abnormal atrioventricular connection, Short neck, Cry...	ORPHA:264450
Hajdu-Cheney Syndrome	Hepatomegaly, Cataract, Hypospadias, Mitral stenosis, Ventricular septal defect, Abnormal fingern...	ORPHA:955
Noonan Syndrome 14	Curly hair, Scapular winging, Short neck, Sparse eyebrow, Cryptorchidism, Kyphosis, Mitral valve ...	OMIM:619745
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Trichothiodystrophy 6, Nonphotosensitive	Microcornea, Tiger tail banding, Brittle hair, Slow-growing hair	OMIM:616943
Trichothiodystrophy 3, Photosensitive	Cataract, Brittle hair, Bilateral cryptorchidism, Abdominal adhesions, Developmental cataract, Ne...	OMIM:616395
Triploidy	Hepatomegaly, Hypoplasia of penis, Cataract, Hypospadias, Short neck, Cryptorchidism, Abnormality...	ORPHA:3376
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Splenomegaly, Jaundice, Lymphadenopathy, Pr...	ORPHA:79477
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Progeroid Syndrome, Petty Type	Brittle hair, Abnormal hair morphology, Wide anterior fontanel, Abnormality of the nail, Long eye...	ORPHA:2963
Alazami Syndrome	Abnormal eating behavior, Sparse eyebrow, Scoliosis, Atrial septal defect, Abnormal repetitive ma...	ORPHA:319671
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Baker-Gordon Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Scoliosis	OMIM:618218
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:609425
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl...	OMIM:617925
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Fine hair, Microcornea...	ORPHA:1806
Histiocytosis-Lymphadenopathy Plus Syndrome	Cardiomegaly, Corneal arcus, Joint contracture of the 5th finger, Atrial septal defect, Micropeni...	OMIM:602782
Fucosidosis	Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Ovoid vertebral bodies, Cardiomegaly,...	OMIM:230000
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300495
Dyskeratosis Congenita, Autosomal Dominant 3	Urethral stricture, Pancytopenia, Alopecia, Aplastic anemia, Cryptorchidism, Urethral stenosis, F...	OMIM:613990
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Renal dysplasia, Urinary bladder inflammation, Hematuria, Aplasia of the blad...	ORPHA:79403
Thakker-Donnai Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Transposit...	ORPHA:1780
Aredyld Syndrome	Hepatomegaly, Splenomegaly, Abnormality of the ureter, Scoliosis, Sparse body hair, Aplasia/Hypop...	ORPHA:1133
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Duplicated collecting system, Curly hair, Sparse scalp hair, Hyperactivity, Ventricular septal de...	OMIM:607721
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Lymphadenitis, Leukocytosis...	OMIM:615895
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene...	OMIM:609441
Developmental Delay With Or Without Dysmorphic Facies And Autism	Ventricular septal defect, Highly arched eyebrow, Supernumerary nipple, Congenital diaphragmatic ...	OMIM:618454
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Highly arched eyebrow, Aggressive behavior, Self-injurious behavior, Skin-picking,...	OMIM:600430
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Neurogenic bladder, Thick eyebrow, Corneal opacity, Ventricular septal d...	ORPHA:488632
Sjogren-Larsson Syndrome	Thoracic kyphosis, Astigmatism, Flexion contracture, Opacification of the corneal epithelium	OMIM:270200
Short Syndrome	Posterior embryotoxon, Alopecia, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the ir...	ORPHA:3163
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Pulmonic stenosis, Restrictive cardiomyopathy, Ascites, Portal vein hypoplasia	OMIM:619433
4Q21 Microdeletion Syndrome	Short neck, Kyphosis, Synophrys, Self-injurious behavior, Long eyelashes, Scoliosis, Abnormal rep...	ORPHA:238750
Jacobsen Syndrome	Multicystic kidney dysplasia, Cataract, Ventricular septal defect, Short neck, Cryptorchidism, Ab...	ORPHA:2308
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Sclerocornea, Congenital diaphragmatic hernia, Short neck, Abnormal form of ...	ORPHA:818
Rauch-Steindl Syndrome	Hepatomegaly, Hyperactivity, Sacral dimple, Highly arched eyebrow, Aggressive behavior, Bilateral...	OMIM:619695
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Broad eyebrow, Hypospadias, Corneal dystrophy, Corneal opacity, Aggressive behavior, Sparse eyebr...	ORPHA:495875
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Cataract, Hyperlordosis, Right ventricular dilatatio...	ORPHA:369840
Eec Syndrome	Hypospadias, Slow-growing hair, Renal hypoplasia/aplasia, Keratitis, Sparse eyebrow, Corneal eros...	ORPHA:1896
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Emotional lability, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Pili torti, Fine hair	ORPHA:1573
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Glomerulopathy, Splenomegaly, Abnormality of skeletal muscle fiber size, Generalize...	ORPHA:2348
Coffin-Siris Syndrome 7	Sparse scalp hair, Hyperactivity, Ventricular septal defect, Bicuspid aortic valve, Severe temper...	OMIM:618027
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs invers...	OMIM:613095
Trichothiodystrophy 1, Photosensitive	Cataract, Brittle hair, Trichoschisis, Flexion contracture, Fine hair, Microcornea, Keratoconjunc...	OMIM:601675
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Hypoplastic toenails, Abnormal tubuloin...	ORPHA:904
Woolly Hair, Autosomal Dominant	Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai...	OMIM:194300
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Curly hair, Ventricular septal defect, Splenomegaly, Synophrys, Woolly hair, Macrog...	OMIM:618268
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Atrioventricular c...	OMIM:265380
Cutis Laxa, Autosomal Recessive, Type Iia	Brittle hair, Abnormality of hair texture, Wide anterior fontanel, Coarse hair, Scoliosis	OMIM:219200
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Sparse hair, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Highly ...	OMIM:280000
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Duplicated collecting system, Cholestasis, Hepatosplenomegaly, Hep...	ORPHA:541423
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Abnormal curvature of the vertebral column, Compulsive behaviors, Atrial s...	ORPHA:353281
Radio-Tartaglia Syndrome	Thick eyebrow, Ventricular septal defect, Highly arched eyebrow, Long eyebrows, Aggressive behavi...	OMIM:619312
Tangier Disease	Orange discolored tonsils, Corneal opacity, Chronic noninfectious lymphadenopathy, Thrombocytopen...	ORPHA:31150
Xanthinuria, Type I	Xanthine nephrolithiasis, Xanthinuria, Pyelonephritis, Myopathy, Hydronephrosis	OMIM:278300
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/apl...	ORPHA:2473
Coffin-Siris Syndrome 6	Kyphoscoliosis, Tics, Attention deficit hyperactivity disorder, Atrial septal defect, Diaphragmat...	OMIM:617808
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hypoplastic fingernail, Hydroureter, Short neck, Synophrys, Hypertrophy of the urinary bladder, H...	ORPHA:280633
Chime Syndrome	Corneal opacity, Ventricular septal defect, Abnormality of the kidney, Pulmonary valve atresia, A...	ORPHA:3474
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Okamoto Syndrome	Facial hypertrichosis, Ventricular septal defect, Urinary incontinence, Splenomegaly, Abnormal le...	ORPHA:2729
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Hypo...	OMIM:613673
Snijders Blok-Campeau Syndrome	Astigmatism, Perimembranous ventricular septal defect, Pulmonic stenosis, Attention deficit hyper...	OMIM:618205
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Hypopl...	ORPHA:33364
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Juvenile cataract, Sparse hair	ORPHA:1264
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Bicuspid aortic valve, Fetal pyelectasis, Atrial septal defect, Vesicoureter...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Bicuspid aortic valve, Fetal pyelectasis, Atrial septal defect, Vesicoureter...	ORPHA:363958
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated hepatic transaminase, Abnormality of hair texture, Cardiomyopathy, Abnormality of the li...	ORPHA:88618
Incontinentia Pigmenti	Ridged nail, Alopecia, Cataract, Eosinophilia, Supernumerary nipple, Kyphoscoliosis, Keratitis, L...	OMIM:308300
Developmental And Epileptic Encephalopathy 30	Abnormal repetitive mannerisms	OMIM:616341
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr...	ORPHA:49041
Tetraploidy	Aplasia/Hypoplasia of the thymus, Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:3305
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Cataract, Microcytic anemia, Dilated cardiomyopathy, Elevated circulating alanine a...	OMIM:618805
Fryns Syndrome	Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Ventricular septal defect, Renal ag...	OMIM:229850
Opitz-Kaveggia Syndrome	Sacral dimple, Multiple joint contractures, Hypospadias, Lumbar hyperlordosis, Short neck, Crypto...	OMIM:305450
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos...	ORPHA:2751
Wilson Disease	Acute hepatic failure, Aminoaciduria, Hepatic steatosis, Hemolytic anemia, Hepatomegaly, Elevated...	OMIM:277900
Fabry Disease	Conjunctival telangiectasia, Abnormal endocardium morphology, Renal insufficiency, Cataract, Prot...	ORPHA:324
Kaposiform Lymphangiomatosis	Abnormal thoracic spine morphology, Pancreatic cysts, Thrombocytopenia, Splenomegaly, Abnormality...	ORPHA:464329
Galloway-Mowat Syndrome 6	Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Abnormal repetitive manneris...	OMIM:618347
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure	ORPHA:60
Wolf-Hirschhorn Syndrome	Sclerocornea, Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Atrial sept...	ORPHA:280
Rodrigues Blindness	Microcornea, Sparse hair, Sclerocornea, Fine hair	OMIM:268320
Pycnodysostosis	Increased bone mineral density, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Osteolyt...	OMIM:265800
Frontometaphyseal Dysplasia	Interphalangeal joint contracture of finger, Hypoplasia of the musculature, Ureteral obstruction,...	ORPHA:1826
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le...	OMIM:300009
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Raine Syndrome	Increased bone mineral density, Bowing of the long bones, Micromelia, Micrognathia, Subperiosteal...	OMIM:259775
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen	ORPHA:230
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Highly arched eyebrow, Aggressive behavior, Attention deficit hyperactivity disorder, Scoliosis, ...	OMIM:618825
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis, Hirsutism	OMIM:612526
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Ureterocele, Sparse hair, Vesicoureteral reflux, Micropenis, Sparse eyebrow, Cryptorchidism, Blue...	OMIM:129900
Mucopolysaccharidosis Type 2, Severe Form	Otosclerosis, Corneal opacity, Abnormal heart valve morphology, Abnormal pulmonary valve morpholo...	ORPHA:217085
Desmosterolosis	Increased bone mineral density, Talipes, Micromelia, Micrognathia, Metatarsus adductus, Splenomeg...	ORPHA:35107
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Patent foramen ovale...	OMIM:614582
Gabriele-De Vries Syndrome	Facial hypotonia, Sparse eyebrow, Cryptorchidism, Distal arthrogryposis, Frontal upsweep of hair,...	OMIM:617557
Peroxisome Biogenesis Disorder 5A (Zellweger)	Renal cyst, Atrial septal defect, Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Ele...	OMIM:614866
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Highly arched eyebrow, Aggressive behavior, Secundum atrial septal defect, Facial diplegia, Atten...	OMIM:619121
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Aggressive behavior, Cryptorchidism, Kyphosis, Low anterior hairline, Hirs...	OMIM:619244
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Cataract, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal arte...	OMIM:617913
Jaberi-Elahi Syndrome	Brittle hair, Cataract, Sparse eyelashes, Sparse eyebrow, Kyphosis, Fine hair, Scoliosis, Sparse ...	OMIM:617988
Shukla-Vernon Syndrome	Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Sparse hair, Abnormal...	OMIM:301029
Chromosome 2P16.1-P15 Deletion Syndrome	Kyphoscoliosis, Cryptorchidism, Hydronephrosis, Attention deficit hyperactivity disorder, Camptod...	OMIM:612513
Multicentric Osteolysis, Nodulosis, And Arthropathy	Hip contracture, Peripheral opacification of the cornea, Corneal opacity, Interphalangeal joint c...	OMIM:259600
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair	OMIM:104100
Primary Dystonia, Dyt13 Type	Torticollis, Abnormal repetitive mannerisms	ORPHA:98807
Autosomal Recessive Cutis Laxa Type 2A	Wide anterior fontanel, Abnormal cornea morphology, Corneal opacity, Thick hair	ORPHA:357058
Walker-Warburg Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Cataract, Corneal opacity, Cryptorchidism, Microcor...	ORPHA:899
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Osteolysis, In...	OMIM:602080
Bartsocas-Papas Syndrome 2	Corneal opacity, Wide anterior fontanel, Antecubital pterygium, Popliteal pterygium, Axillary pte...	OMIM:619339
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla...	OMIM:227270
Acrogeria	Scoliosis, Fine hair	ORPHA:2500
Sanjad-Sakati Syndrome	Abnormal dental enamel morphology, Patchy osteosclerosis, Micrognathia, Small hand, Short foot, H...	ORPHA:2323
12Q14 Microdeletion Syndrome	Micrognathia, Tremor, Abnormality of the spleen, Osteopoikilosis, Clinodactyly of the 5th finger	ORPHA:94063
Opitz Gbbb Syndrome	Atrial septal defect, Enlarged ovaries, Hypospadias, Ventricular septal defect, Congenital diaphr...	ORPHA:2745
Oculodentodigital Dysplasia	Curly hair, Neurogenic bladder, Cataract, Ventricular septal defect, Brittle hair, Abnormal finge...	ORPHA:2710
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Atrial septal defect, Hypoplasia of the bladder, Hydroureter, Bicuspid aortic valve, Valvular pul...	OMIM:300707
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Cataract, Ureteral stenosis, Corneal opacity, Cryptorchidism, Ocular al...	ORPHA:2719
Galactosemia I	Hemolytic anemia, Hepatomegaly, Cataract, Elevated circulating aspartate aminotransferase concent...	OMIM:230400
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Dilated cardiomyopathy, Leukonychia, Nail dystrophy, Woolly hair, Fragile nails	OMIM:615821
Hereditary Amyloidosis With Primary Renal Involvement	Tubulointerstitial nephritis, Nephropathy, Decreased glomerular filtration rate, Tubulointerstiti...	ORPHA:85450
Mucopolysaccharidosis Type 2, Attenuated Form	Otosclerosis, Corneal opacity, Abnormal heart valve morphology, Abnormal pulmonary valve morpholo...	ORPHA:217093
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Anorexia, Conj...	ORPHA:53035
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Restlessness, Lumbar hyperlordosis, Ventricular septal defect, Aggressive behavior, Short neck, C...	ORPHA:251028
8Q21.11 Microdeletion Syndrome	Hypoplasia of penis, Cataract, Corneal opacity, Camptodactyly of finger, Sclerocornea, Short neck...	ORPHA:284160
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Curly hair, Ventricular septal defect, Highly arched eyebrow, Pica, Low posterior hairline, Scoli...	OMIM:617360
Farber Disease	Elevated hepatic transaminase, Skeletal muscle atrophy, Corneal opacity, Intrahepatic cholestasis...	ORPHA:333
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair, Ankle flexion contracture	OMIM:619985
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Brittle hair, Hypospadias, Flexion contracture, Generalized limb muscle atrophy, Fine hair, Chord...	OMIM:618891
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Ulnar deviated club hands, Lateral humeral condyle aplasia, Fibular hy...	OMIM:164900
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D...	ORPHA:275864
Gaucher Disease Type 3	Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Increased susceptibility ...	ORPHA:77261
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Atrial septal defect, Cataract, Corneal opacity, Eosinophilia, Ventricular ...	OMIM:274000
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Rhabdomyolysis, Red-brown u...	ORPHA:228305
Familial Dysautonomia	Abnormal peritoneum morphology, Glomerulopathy, Renal insufficiency, Corneal opacity, Abnormality...	ORPHA:1764
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Fair hair, Sparse ...	OMIM:250250
Oculocerebrorenal Syndrome Of Lowe	Abnormal pupil morphology, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Lentiglobus, Comp...	ORPHA:534
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Curly hair, Hyperactivity, Hypospadias, Diastasis recti, Cryptorchidism	ORPHA:457485
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Incontinentia Pigmenti	Alopecia, Cataract, Corneal opacity, Eosinophilia, Abnormal fingernail morphology, Supernumerary ...	ORPHA:464
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Pulmonic stenosis, Attention deficit hyperactivity disorder, Scoliosis, Recurrent ...	OMIM:617600
Giant Axonal Neuropathy 1, Autosomal Recessive	Curly hair, Distal amyotrophy, Facial palsy, Scoliosis	OMIM:256850
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Hepatomegaly, Hypopigmentation of hair, Splenomegaly	OMIM:618541
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol...	ORPHA:98973
Cold Agglutinin Disease	Back pain, Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:56425
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormal vertebral morphology, Abnormality ...	ORPHA:2273
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal pulmonary ...	ORPHA:1507
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Kyphoscoliosis, Aggressive behavior, Synophrys, Scoliosis, Lymphopenia, Abnormal r...	ORPHA:391307
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Hypoplastic toenails, Biliary atresia, Dextrotransposition of the great a...	OMIM:306955
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Bladder diverticulum, Kyphosis, Scoliosis, Hyperlordosis	OMIM:617821
Robinow Syndrome	Fused thoracic vertebrae, Multicystic kidney dysplasia, Ventricular septal defect, Kyphoscoliosis...	ORPHA:97360
Cousin Syndrome	Short neck, Low anterior hairline, Prominent protruding coccyx, Microcornea, Facial hirsutism, Jo...	OMIM:260660
Oculomaxillofacial Dysostosis	Corneal opacity, Camptodactyly of finger, Abnormal eyelash morphology, Sparse or absent eyelashes...	ORPHA:1794
Smith-Magenis Syndrome	Renal hypoplasia/aplasia, Synophrys, Abnormality of the ureter, Abnormal localization of kidney, ...	ORPHA:819
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysmal burst...	OMIM:618718
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Christianson Syndrome	Decreased muscle mass, Inappropriate laughter, Dysphagia, Arthrogryposis multiplex congenita, Abn...	ORPHA:85278
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia/aplasia, Vesico...	ORPHA:107
Noonan Syndrome 2	Curly hair, Mitral stenosis, Ventricular septal defect, Short neck, Sparse eyebrow, Cryptorchidis...	OMIM:605275
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t...	OMIM:262000
Dyggve-Melchior-Clausen Disease	Beaking of vertebral bodies, Hyperactivity, Corneal opacity, Short neck, Hypoplasia of the odonto...	ORPHA:239
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Alopecia, Absent eyebrow, Splenomegaly, Jaundice, Loss of eyelash...	OMIM:263700
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Short neck, Aggressive behavior, Synophrys, Fine hair, Long eyelashes, Thoracic kyphosis, Scoliosis	OMIM:620250
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Highly arched eyebrow, Abnormality of the upper urinary tract, Short neck, Low poste...	ORPHA:2995
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Vesicoureteral reflux, Arthrogryposis multiplex congenita, Hydronephrosis	OMIM:618265
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Thick eyebrow	OMIM:602562
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Leukopenia, Cardiomyopath...	ORPHA:27
Ectodermal Dysplasia 13, Hair/Tooth Type	Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow	OMIM:617392
Axenfeld-Rieger Syndrome, Type 2	Hypospadias, Cryptorchidism, Abnormal heart morphology, Microcornea, Opacification of the corneal...	OMIM:601499
Kleefstra Syndrome 1	Hypospadias, Aggressive behavior, Cryptorchidism, Synophrys, Abnormal renal morphology, Conotrunc...	OMIM:610253
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
White-Sutton Syndrome	Duplicated collecting system, Hyperactivity, Facial hypotonia, Congenital diaphragmatic hernia, A...	OMIM:616364
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Oculocerebrocutaneous Syndrome	Alopecia, Abnormal fingernail morphology, Corneal opacity, Congenital diaphragmatic hernia, Crypt...	ORPHA:1647
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Developmental glaucoma, Corneal opacity, Unilateral renal agenesis	ORPHA:1064
Odontotrichoungual-Digital-Palmar Syndrome	Nail dystrophy, Nail dysplasia, Abnormality of hair texture	OMIM:601957
Rapp-Hodgkin Syndrome	Sparse eyelashes, Hypospadias, Supernumerary nipple, Slow-growing hair, Sparse eyebrow, Fine hair...	OMIM:129400
Liver Disease, Severe Congenital	Dry hair, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Elevated h...	OMIM:619991
Al-Gazali Syndrome	Wrist flexion contracture, Corneal opacity, Hydronephrosis, Sclerocornea	OMIM:609465
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Familial Thrombocytosis	Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly	ORPHA:71493
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Abnormal heart valve morphology, Short neck, Heparan sulfate excretion in urine, Sp...	OMIM:309900
Rubinstein-Taybi Syndrome 1	Bilateral cryptorchidism, Flexion contracture, Low anterior hairline, Hepatic hemangioma, Atrial ...	OMIM:180849
Cutis Laxa, Autosomal Dominant 3	Os odontoideum, Corneal opacity, Unilateral renal agenesis, Developmental cataract	OMIM:616603
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Cataract, Contracture of the proximal interphalangeal joint of the 2nd finger, Thenar muscle atro...	OMIM:612394
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno...	OMIM:607626
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Kyphoscoliosis, Short neck, Synophrys, Low anterior hairline, Fine hair, Scoliosis, Sparse hair	ORPHA:391408
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Tricuspid stenosis, Abnormality of the kidney, Multiple mus...	ORPHA:391641
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Cardiomy...	OMIM:614922
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Oculodentodigital Dysplasia	Neurogenic bladder, Cataract, Dry hair, Slow-growing hair, Fine hair, Microcornea, Sparse hair, J...	OMIM:164200
Ophthalmomandibulomelic Dysplasia	Megalocornea, Corneal opacity, Camptodactyly of finger	ORPHA:2741
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Facial pals...	OMIM:619424
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thoracic scoliosis, Bicuspid aortic valve, Short neck, Thoracic kyphosis, Thoracic hemivertebrae,...	ORPHA:508498
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, 4-5 metacarpal ...	OMIM:206920
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Renal insufficiency, Glomerulopathy, Proteinuria, Abnormal heart valve morphology, ...	ORPHA:36412
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Portal hypertension, Dilate...	ORPHA:367
Spondylodysplastic Ehlers-Danlos Syndrome	Multiple joint contractures, Flexion contracture, Atrial septal defect, Megalocornea, Abnormal ve...	ORPHA:536471
Intellectual Developmental Disorder, Autosomal Dominant 53	Ventricular septal defect, Cryptorchidism, Frontal upsweep of hair, Micropenis, Hydronephrosis	OMIM:617798
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Abno...	OMIM:216360
Trichothiodystrophy 8, Nonphotosensitive	Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa	OMIM:619691
Pili Torti, Early-Onset	Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr...	OMIM:261900
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Atrial septal defect, Cryptorchidism, Ventricular septal defect, Hydronephrosis	ORPHA:457193
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Cataract, Proteinuria, Glomerulonephritis, Supernumerary nipple, Stage 5 chronic ki...	OMIM:614376
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Elevated circulating aspartate aminotransferase concentration, Intr...	OMIM:617093
Kyphoscoliotic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Congenital kyphoscoliosis, Bicuspid aortic valve, Dextrocardia, Kyphosco...	ORPHA:536545
Trichothiodystrophy 7, Nonphotosensitive	Tiger tail banding, Brittle hair	OMIM:618546
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Sparse scalp hair, Fine hair	ORPHA:2324
Ogden Syndrome	Torticollis, Ventricular septal defect, Cryptorchidism, Fine hair, Scoliosis, Aplasia/Hypoplasia ...	ORPHA:276432
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Skeletal muscle atrophy, Abnormal repetitive mannerisms, Disinhibition, Dysphagia	OMIM:612069
Hall-Riggs Syndrome	Slow-growing hair, Thick hair, Platyspondyly, Coarse hair, Scoliosis	ORPHA:2107
Congenital Disorder Of Deglycosylation 1	Elevated hepatic transaminase, Hepatomegaly, Restlessness, Corneal opacity, Facial hypotonia, Ora...	OMIM:615273
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost...	OMIM:259730
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Cryoglobulinemic Vasculitis	Hepatomegaly, Renal insufficiency, Viral hepatitis, Proteinuria, Glomerulopathy, Mediastinal lymp...	ORPHA:91138
Smith-Kingsmore Syndrome	Curly hair, Diastasis recti, Cryptorchidism, Wide anterior fontanel, Thrombocytopenia	OMIM:616638
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Thoracolumbar scoliosis, Portal hypertension, Pancreatic cysts, Splenomegaly, Devel...	OMIM:610199
Pallister-Hall Syndrome	Decreased testicular size, Renal dysplasia, Hydroureter, Ventricular septal defect, Distal urethr...	OMIM:146510
Chromosome 6Pter-P24 Deletion Syndrome	Ventricular septal defect, Short neck, Tetralogy of Fallot, Frontal upsweep of hair, Axenfeld ano...	OMIM:612582
Desmosterolosis	Rhizomelia, Micrognathia, Generalized osteosclerosis, Abnormal circulating cholesterol concentrat...	OMIM:602398
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cryptorchidism, Self-injurious behavior, Compulsive behaviors, Abnormal repetitive mannerisms, St...	OMIM:618917
Desmoid Tumor	Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:873
Insensitivity To Pain, Congenital, With Anhidrosis	Sparse scalp hair, Hyperactivity, Keratitis, Corneal scarring, Nail dystrophy, Recurrent corneal ...	OMIM:256800
Xq28 (MECP2) duplication	Functional abnormality of the bladder, Abnormal repetitive mannerisms, Dysphagia	DECIPHER:45
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Renal dysplasia, Ureteral duplication, Atrial septal defect, Ureteral hypoplasia, Congenital diap...	OMIM:614080
Williams-Beuren Syndrome	Bicuspid aortic valve, Flexion contracture, Nephrocalcinosis, Premature graying of hair, Atrial s...	OMIM:194050
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Short neck, Splenomegaly, Jaundice, Elevated circulating alanine...	OMIM:611881
Pseudoleprechaunism Syndrome, Patterson Type	Bladder diverticulum, Kyphoscoliosis, Abnormal odontoid process morphology, Hirsutism	ORPHA:2976
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Floating-Harbor Syndrome	Short neck, Renal cyst, Nephrocalcinosis, Compulsive behaviors, Atrial septal defect, Mesocardia,...	ORPHA:2044
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Unilateral renal agenesis, Flexion contracture, Abnormal cardiac septum morphology, Sma...	OMIM:308050
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Omenn Syndrome	Hepatomegaly, Alopecia, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic synd...	ORPHA:39041
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn...	ORPHA:139507
Bazex-Dupre-Christol Syndrome	Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa	OMIM:301845
Developmental And Epileptic Encephalopathy 64	Highly arched eyebrow, Sparse eyebrow, Low anterior hairline, Self-injurious behavior, Long eyela...	OMIM:618004
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	High anterior hairline, Long eyelashes, Fine hair	ORPHA:231137
Alstrom Syndrome	Elevated hepatic transaminase, Hepatic steatosis, Renal insufficiency, Chronic active hepatitis, ...	OMIM:203800
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Increased intervertebral space, T lymphocytopenia, Abnormality of the cervical spine, Abnormal re...	ORPHA:508533
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Glutaric aciduria, Jaundice, Wide anterior fontanel, Generalized aminoaciduria, Ren...	OMIM:231680
Hyperphosphatasia-Intellectual Disability Syndrome	Supernumerary nipple, Highly arched eyebrow, Short neck, Shallow anterior chamber, Small nail, Sc...	ORPHA:247262
Mucolipidosis Type Ii	Hip contracture, Dry hair, Abnormal mitral valve morphology, Diastasis recti, Splenomegaly, Kypho...	ORPHA:576
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Aggressive behavior, Complete atrioventricular canal defect, Synophrys, Kyp...	ORPHA:476126
Phelan-Mcdermid Syndrome	Sacral dimple, Ventricular septal defect, Abnormality of the kidney, Aggressive behavior, Hypopla...	OMIM:606232
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Nephrotic syndrome, Cardiomyopathy, As...	OMIM:617713
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat...	OMIM:255120
Larsen Syndrome	Vertebral fusion, Ventricular septal defect, Corneal opacity, Short nail, Cervical kyphosis, Cryp...	OMIM:150250
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:848
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Robinow Syndrome, Autosomal Recessive 1	Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Short neck, Cryptorchidism, Wide a...	OMIM:268310
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Sparse eyebrow, Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
Cockayne Syndrome	Skeletal muscle atrophy, Dry hair, Urinary incontinence, Congenital contracture, Lentiglobus, Hep...	ORPHA:191
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, Contracture of the d...	ORPHA:83617
Endove Syndrome, Limb-Brain Type	Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis	OMIM:619218
Adams-Oliver Syndrome 5	Portal vein thrombosis, Splenomegaly, Hypersplenism, Hypoplastic toenails, Absent toenail, Right ...	OMIM:616028
Trichorhinophalangeal Syndrome, Type I	Scapular winging, Slow-growing hair, Thin nail, Concave nail, Hyperlordosis, Leukonychia, Fine ha...	OMIM:190350
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Splenomegaly, Chylopericardium, Pulmonic stenosis, Ascites	ORPHA:2414
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P...	ORPHA:1454
2Q37 Microdeletion Syndrome	Sparse scalp hair, Multicystic kidney dysplasia, Supernumerary nipple, Highly arched eyebrow, Spa...	ORPHA:1001
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Glandular hypospad...	ORPHA:1358
Houge-Janssens Syndrome 3	Muscular ventricular septal defect, Self-injurious behavior, Attention deficit hyperactivity diso...	OMIM:618354
Igg4-Related Kidney Disease	Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep...	ORPHA:449395
Doors Syndrome	11 pairs of ribs, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sagittal craniosynostosis, ...	ORPHA:79500
Anterior Segment Dysgenesis 5	Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri...	OMIM:604229
Coffin-Siris Syndrome 1	Dry hair, Congenital diaphragmatic hernia, Ectopic kidney, Compulsive behaviors, Atrial septal de...	OMIM:135900
Autism, Susceptibility To, 3	Restrictive behavior, Ketonuria, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608049
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Atrial septal defect, Cryptorchidism, Proteinuria, Multiple bladder diverticula	ORPHA:2728
Sickle Cell Disease	Hemolytic anemia, Renal insufficiency, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukoc...	OMIM:603903
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Hypoplasia of penis, Bilateral cryptorchidism, Microvesicular hepa...	ORPHA:66634
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Scoliosis, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618906
Baller-Gerold Syndrome	Abnormality of the ureter, Abnormal localization of kidney, Abnormal cardiac septum morphology, S...	ORPHA:1225
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Sple...	OMIM:300842
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Renal tubular acidosis, Hyp...	ORPHA:156
Argininosuccinic Aciduria	Hepatomegaly, Dry hair, Brittle hair, Elevated circulating aspartate aminotransferase concentrati...	OMIM:207900
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor...	OMIM:614170
Alagille Syndrome 1	Multiple small medullary renal cysts, Hemivertebrae, Microcornea, Atrial septal defect, Vesicoure...	OMIM:118450
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Inguinal hernia, Short metacarpal, Radial bowing, Recurrent fractures, ...	OMIM:610915
Tarp Syndrome	Extramedullary hematopoiesis, Abnormal hair pattern, Cryptorchidism, Horseshoe kidney, Scoliosis,...	ORPHA:2886
48,Xxyy Syndrome	Hypoplasia of penis, Cryptorchidism, Azoospermia, Attention deficit hyperactivity disorder, Scoli...	ORPHA:10
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ...	OMIM:263520
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thr...	ORPHA:398124
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Highly arched eyebrow, Sp...	ORPHA:487796
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Exercise-induced rhabdomyolysis, Dicarboxylic aciduria, Cardiomegaly, Exercise-indu...	OMIM:201475
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Aggressive behavior, Mitral valve prolapse, Self-injurious behavior, Abnormal temp...	ORPHA:449291
Erdheim-Chester Disease	Renal insufficiency, Dysuria, Abnormal pericardium morphology, Retroperitoneal fibrosis, Abnormal...	ORPHA:35687
Tay-Sachs Disease	Short attention span, Exaggerated startle response, Increased serum beta-hexosaminidase, Quadrice...	ORPHA:845
Lysinuric Protein Intolerance	Hepatomegaly, Skeletal muscle atrophy, Thrombocytopenia, Splenomegaly, Stage 5 chronic kidney dis...	OMIM:222700
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Splenomegaly, Abnormality of skeletal muscle fiber s...	ORPHA:79083
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Abnormal curvature of the vertebral column, Compulsive behaviors, Atrial s...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Abnormal curvature of the vertebral column, Compulsive behaviors, Atrial s...	ORPHA:353277
Melnick-Needles Syndrome	Ureteral stenosis, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Mitral valve prolaps...	OMIM:309350
Amaurosis-Hypertrichosis Syndrome	Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow	ORPHA:1021
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Nephropathy, Proteinuria, Corneal opacity	ORPHA:1765
Gomez-Lopez-Hernandez Syndrome	Hyperactivity, Alopecia, Wide anterior fontanel, Self-injurious behavior, Opacification of the co...	OMIM:601853
Legionnaires Disease	Renal insufficiency, Pericarditis, Proteinuria, Anorexia, Splenomegaly, Jaundice, Myocarditis, He...	ORPHA:549
Gapo Syndrome	Keratoconus, Hepatomegaly, Alopecia, Sparse eyelashes, Facial palsy, Sparse eyebrow, Wide anterio...	OMIM:230740
Smith-Lemli-Opitz Syndrome	Renal cyst, Atrial septal defect, Micropenis, Hepatic steatosis, Self-mutilation, Penoscrotal hyp...	OMIM:270400
Mesomelia-Synostoses Syndrome	Abnormal eyebrow morphology, Hydronephrosis	ORPHA:2496
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Hydronephrosis, Increased mean platelet volume	OMIM:300048
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:278000
Glycine Encephalopathy With Normal Serum Glycine	Joint laxity, Hip contracture, Exaggerated startle response, Genu recurvatum, Overlapping toe, Fl...	OMIM:617301
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Hypertrophic cardiomyopathy, Ketonuria, Renal hypoplasia	OMIM:619053
Chanarin-Dorfman Syndrome	Hepatomegaly, Alopecia, Myopathy, Subcapsular cataract, Hepatic steatosis	OMIM:275630
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Synophrys, Low anterior hairline, Long eyelashes, Abnormal repetitive mannerisms, Thick eyebrow	ORPHA:411986
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Mitral valve calcification, Corneal opacity, Abnormality of the spleen, Thrombocyto...	ORPHA:2072
Occipital Horn Syndrome	Ureteral obstruction, Kyphosis, Bladder diverticulum, Coarse hair, Platyspondyly, Pili torti, Hyd...	OMIM:304150
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Cataract, Pancreatic fibros...	ORPHA:564
Craniofrontonasal Syndrome	Ridged nail, Split nail, Curly hair, Hypospadias, Congenital diaphragmatic hernia, Short neck, Cr...	OMIM:304110
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Curly hair, Cataract, Hypospadias, Ventricular septal defect, Abnormal fingernail morphology, Hig...	ORPHA:444077
Digeorge Syndrome	Sclerocornea, Abnormal thymus morphology, Hypoplasia of the thymus, Hepatic steatosis, Scoliosis,...	OMIM:188400
Trisomy 18	Cataract, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Ab...	ORPHA:3380
Schinzel-Giedion Midface Retraction Syndrome	Atrial septal defect, Sacrococcygeal teratoma, Ureteral stenosis, Hypospadias, Hydroureter, Hyper...	OMIM:269150
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Sparse eyebrow, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Na...	OMIM:605676
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Pericarditis, Alopecia, Myositis, Mediastinal lymphadenopathy, Sp...	ORPHA:809
Toluene Embryopathy	Cryptorchidism, Hydronephrosis, Abnormal localization of kidney	ORPHA:1920
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Woolly hair, Right ventricular cardiomyopathy	OMIM:607450
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis, Opacification of...	OMIM:313400
Mosaic Trisomy 1	Hepatic agenesis, Thoracic scoliosis, Ventricular septal defect, Hypoplastic thumbnail, Congenita...	ORPHA:1692
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Posterolateral diaphragmatic hernia, Morgagni diaphragmatic hernia, Hypoplasia ...	OMIM:613177
Alpha-Mannosidosis, Infantile Form	Pancytopenia, Cataract, Corneal opacity, Facial hypotonia, Highly arched eyebrow, Recurrent urina...	ORPHA:309282
Severe Intellectual Disability And Progressive Spastic Paraplegia	Abnormal repetitive mannerisms, Facial hypotonia	ORPHA:280763
Limb Body Wall Complex	Corneal opacity, Ventricular septal defect, Congenital diaphragmatic hernia, Diastasis recti, Abn...	ORPHA:2369
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Sacral dimple, Cryptorchidism, Splenomegaly, Spherocytosis...	ORPHA:251066
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia, Bicuspid aortic valve, Highly arched eyebrow, Short neck, Splen...	OMIM:613563
Cerebrofaciothoracic Dysplasia	Abnormal hair pattern, Short neck, Synophrys, Hemivertebrae, Low posterior hairline, Coarse hair,...	ORPHA:1394
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Recessive X-Linked Ichthyosis	Cryptorchidism, Attention deficit hyperactivity disorder, Opacification of the corneal stroma	ORPHA:461
Pontocerebellar Hypoplasia, Type 11	Skeletal muscle atrophy, Self-injurious behavior, Attention deficit hyperactivity disorder, Dysph...	OMIM:617695
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Cataract, Unilateral renal agenesis, Sparse axillary hair, Sparse pubic hair...	OMIM:181270
Acrofacial Dysostosis, Catania Type	Hypospadias, Abnormal hair pattern, Cryptorchidism, Coarse hair, Spina bifida occulta	ORPHA:1786
Schinzel-Giedion Syndrome	Sacrococcygeal teratoma, Myeloid leukemia, Hypospadias, Nephroblastoma, Kyphoscoliosis, Short nec...	ORPHA:798
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Tremor, Splenomegaly, Reduced bo...	ORPHA:667
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Urethral atresia, Supernumerary ver...	OMIM:271520
Cogan Syndrome	Thrombocytosis, Leukocytosis, Anemia	ORPHA:1467
Dyskeratosis Congenita	Abnormality of neutrophils, White hair, Premature graying of hair, Sparse hair, Hepatomegaly, Alo...	ORPHA:1775
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Renal cyst, Vertebral segmentation defect, Atrial septal defect,...	OMIM:312870
Cog5-Cdg	Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Urinary incontinence, Camptodact...	ORPHA:263487
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis	OMIM:602418
Igg4-Related Aortitis	Low back pain, Hypereosinophilia, Hydronephrosis	ORPHA:449400
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response, Flexion contracture, Absent Achilles reflex, Ankle clonus, Pes cavus	OMIM:609541
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Hepatomegaly, Highly arched eyebrow, Cryptorchidism, Kyphosis...	OMIM:619005
Osteoporosis-Pseudoglioma Syndrome	Corneal opacity	ORPHA:2788
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hepatomegaly, Lumbar hyperlordosis, Short neck, Splenomegaly, Platyspondyly, Scoliosis, Vertebral...	OMIM:602557
Al Amyloidosis	Hepatomegaly, Renal insufficiency, Proteinuria, Howell-Jolly bodies, Abnormality of the kidney, R...	ORPHA:85443
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Zimmermann-Laband Syndrome 1	Hepatomegaly, Thick eyebrow, Cataract, Thick hair, Highly arched eyebrow, Splenomegaly, Synophrys...	OMIM:135500
Brain Malformations With Or Without Urinary Tract Defects	Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis	OMIM:613735
Tarp Syndrome	Horseshoe kidney, Hepatic failure, Atrial septal defect, Tetralogy of Fallot, Hydronephrosis	OMIM:311900
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Cry...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Cry...	ORPHA:352665
Lamb-Shaffer Syndrome	Hyperactivity, Fused cervical vertebrae, Thoracic kyphosis, Abnormal temper tantrums, Scoliosis, ...	ORPHA:530983
Tetrasomy 9P	Myositis, Short neck, Biliary atresia, Inappropriate behavior, Micropenis, Patent foramen ovale, ...	ORPHA:3310
Orofaciodigital Syndrome Type 3	Thoracic kyphosis, Stage 5 chronic kidney disease, Abnormality of hair texture	ORPHA:2752
Atypical Werner Syndrome	Sclerosis of hand bone, Pes planus, Increased bone mineral density, Hypertriglyceridemia, Lipoatr...	ORPHA:79474
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:603909
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Oculoectodermal Syndrome	Atrial septal defect, Hyperactivity, Supernumerary nipple, Short neck, Microcornea, Astigmatism, ...	OMIM:600268
Penile Agenesis	Urethral atresia, male, Hydroureter, Ventricular septal defect, Cryptorchidism, Fetal pyelectasis...	ORPHA:49
Histiocytoid Cardiomyopathy	Hepatomegaly, Corneal opacity, Ventricular septal defect, Cardiomegaly, Renal cyst, Megalocornea,...	ORPHA:137675
Adrenomyeloneuropathy	Back pain, Urinary incontinence, Frontal balding, Fine hair, Urinary urgency, Urinary retention, ...	ORPHA:139399
Au-Kline Syndrome	Sacral dimple, Thoracolumbar scoliosis, Supernumerary nipple, Cryptorchidism, Chronic kidney dise...	OMIM:616580
Pitt-Hopkins Syndrome	Sacral dimple, Hyperconvex nail, Supernumerary nipple, Short neck, Cryptorchidism, Self-injurious...	OMIM:610954
Galloway-Mowat Syndrome 9	Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Coarse hair, Stage 5 chronic kid...	OMIM:619603
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Rhabdomyolysis, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epit...	ORPHA:157
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wide anterior fontanel, Platyspondyly, Opacification of the corneal stroma	OMIM:601356
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Patc...	OMIM:615387
Cranioectodermal Dysplasia 3	Short nail, Broad nail, Stage 5 chronic kidney disease, Fine hair, Cirrhosis, Nephronophthisis, S...	OMIM:614099
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Micronodular cirrhosis, Abnormal granulocy...	ORPHA:98907
Norrie Disease	Cataract, Corneal opacity, Aggressive behavior, Leukocoria, Hypoplasia of the iris, Buphthalmos, ...	OMIM:310600
Craniolenticulosutural Dysplasia	Brittle hair, Cryptorchidism, Punctate cataract, Wide anterior fontanel, Posterior wedging of ver...	OMIM:607812
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Sacral dimple, Hypospadias, Corneal opacity, Sclerocornea, Congenital ...	ORPHA:2556
Cranioectodermal Dysplasia 1	Hepatomegaly, Bicuspid aortic valve, Thin nail, Malformation of the hepatic ductal plate, Short n...	OMIM:218330
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Skeletal muscle atrophy, Highly arched eyebrow, Short neck, Secundum atrial septal defect, Low an...	OMIM:615802
Lathosterolosis	Hepatomegaly, Hypoplasia of penis, Cataract, Abnormal thoracic spine morphology, Intrahepatic cho...	ORPHA:46059
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Knobloch Syndrome 1	Duplicated collecting system, Renal duplication, Band keratopathy, Spina bifida occulta, Developm...	OMIM:267750
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Xp22.3 Microdeletion Syndrome	Sacral dimple, Opacification of the corneal stroma	ORPHA:1643
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Fetal ascites, Synophrys, Flexion contracture, Knee flexion contracture, Diaphragmatic eventratio...	OMIM:619503
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Congenital Disorder Of Glycosylation, Type Iia	Ventricular septal defect, Thoracolumbar kyphoscoliosis, Aggressive behavior, Short neck, Hirsuti...	OMIM:212066
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Exaggerated startle response, Cognitive impairment, Dystonia	ORPHA:309246
Cockayne Syndrome B	Hepatomegaly, Renal insufficiency, Dry hair, Proteinuria, Abnormal hair morphology, Cryptorchidis...	OMIM:133540
Ogden Syndrome	Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato...	OMIM:300855
Microphthalmia, Syndromic 3	Vertebral fusion, Cataract, Hypospadias, Ventricular septal defect, Sclerocornea, Cryptorchidism,...	OMIM:206900
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Skeletal muscle atrophy, Kyphoscoliosis, Atlantoaxial instability, Microcornea, Bladder diverticu...	OMIM:614557
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Curly hair, Ventricular septal defect, Slow-growing hair, Highly arched eyebrow, Short neck, Cryp...	OMIM:617506
Noonan Syndrome	Abnormal hair quantity, Hepatomegaly, Abnormal pulmonary valve morphology, Cryptorchidism, Abnorm...	ORPHA:648
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Centrally nucleated skeletal muscle fibers, Hyperlor...	OMIM:613327
Floating-Harbor Syndrome	Hypospadias, Kyphoscoliosis, Aggressive behavior, Short neck, Cryptorchidism, Glandular hypospadi...	OMIM:136140
Joubert Syndrome 6	Stage 5 chronic kidney disease, Bile duct proliferation, Hepatic fibrosis, Nephronophthisis, Abno...	OMIM:610688
Gorlin-Chaudhry-Moss Syndrome	Sclerocornea, Low anterior hairline, Coarse hair, Astigmatism, Generalized hirsutism	ORPHA:2095
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Increased sarcoplasmic glyc...	ORPHA:264580
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Left ventricular noncompaction, ...	OMIM:619167
Intellectual Developmental Disorder, X-Linked 98	Hyperactivity, Steroid-dependent nephrotic syndrome, Urinary incontinence, Aggressive behavior, B...	OMIM:300912
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Facial hypotonia, Hypospadias, Cryptorchidism, Repetitive compulsive behavior, Dysphagia, Bruxism...	OMIM:300260
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropen...	OMIM:618280
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Tricuspid stenosis, Extrahepatic cholestasis, Lymphadenopathy, Iro...	ORPHA:100078
Oeis Complex	Duplicated collecting system, Absence of the sacrum, Hydroureter, Renal agenesis, Epispadias, Ves...	OMIM:258040
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta...	OMIM:108720
Gabriele-De Vries Syndrome	Distal lower limb amyotrophy, Facial hypotonia, Oral-pharyngeal dysphagia, Sparse eyebrow, Crypto...	ORPHA:506358
De Barsy Syndrome	Decreased muscle mass, Cataract, Ventricular septal defect, Corneal opacity, Kyphoscoliosis, Cryp...	ORPHA:2962
15q26 overgrowth syndrome	Renal agenesis, Camptodactyly of finger, Abnormality of the kidney, Short neck, Horseshoe kidney,...	DECIPHER:81
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Vertebral compression fracture, Anemia, ...	OMIM:230800
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Highly arched eyebrow, Thrombocytopenia, Self-injurious behavior, Sacral hypertrichosis, Scoliosi...	ORPHA:457351
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Elevated hepatic transam...	OMIM:260400
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Micropenis, Abnormal repetitive mannerisms, Decreased testicular size, Self-mutilation	ORPHA:457240
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu...	ORPHA:228308
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Skeletal muscle steatosis, Renal tubular dysfunctio...	ORPHA:436271
Mogs-Cdg	Hepatomegaly, Atrial septal defect, Alopecia, Thoracic scoliosis, Cardiomegaly, Hirsutism, Hepato...	ORPHA:79330
Peeling Skin Syndrome 1	Nail dystrophy, Brittle hair, Onycholysis, Eosinophilia	OMIM:270300
Developmental And Epileptic Encephalopathy 6B	Abnormal repetitive mannerisms, Scoliosis	OMIM:619317
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Hypocalcemic seizures, Osteope...	OMIM:612301
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Cataract, Brittle hair, Cholangitis, Microvesicular hepatic steato...	OMIM:124000
Juvenile Neuronal Ceroid Lipofuscinosis	Abnormal repetitive mannerisms, Dysphagia, Abnormal heart morphology	ORPHA:79264
Sotos Syndrome	Ureteral duplication, Flexion contracture, Atrial septal defect, Vesicoureteral reflux, Abnormal ...	ORPHA:821
Trichothiodystrophy 2, Photosensitive	Coarse hair, Tiger tail banding	OMIM:616390
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Hypoplasia of penis, Recurrent urinary tract infections, Abnormal hemoglobin, Abnormality of the ...	ORPHA:847
Fibrochondrogenesis 1	Omphalocele, Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypop...	OMIM:228520
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Anore...	ORPHA:781
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Hydroureter, Fetal megacystis	OMIM:249210
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia,...	ORPHA:958
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Ventricular septal defect, Cryptorchidism, Thrombocytopenia, Atr...	ORPHA:163979
Hijazi-Reis Syndrome	Astigmatism, Abnormal repetitive mannerisms, Iris coloboma	OMIM:301094
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Dry hair, Brittle hair, Macroglossia, Nail dystrophy, Atrial septal defect	ORPHA:93947
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Conjunctival icterus, Jaundice, Increased mean corpu...	OMIM:194380
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Cataract, Hypospadias, Corneal opacity, Sacra...	ORPHA:709
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Cataract, Corneal opacity, Rhabdomyosarcoma, Acute lymphoblastic le...	ORPHA:1052
Leukodystrophy, Hypomyelinating, 13	Irritability, Joint contracture, Exaggerated startle response	OMIM:616881
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Splenome...	OMIM:276700
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Sacral dimple, Ventricular septal defect, Knee flexion contracture, Pulm...	ORPHA:435638
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Elevated hepatic tr...	ORPHA:79303
Campomelic Dysplasia	Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Recurrent fractur...	ORPHA:140
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Hydronephrosis, Limb hypertonia	ORPHA:488613
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Hypospadias, Urinary incontinence, Ventricular septal defect, Renal agenesis,...	OMIM:619522
White-Sutton Syndrome	Duplicated collecting system, Hyperactivity, Facial hypotonia, Congenital diaphragmatic hernia, A...	ORPHA:468678
Vater/Vacterl Association	Renal dysplasia, Hypospadias, Ventricular septal defect, Renal agenesis, Ectopic kidney, Transpos...	OMIM:192350
Onychotrichodysplasia And Neutropenia	Curly hair, Chronic irritative conjunctivitis, Chronic neutropenia, Curly eyelashes, Concave nail...	OMIM:258360
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Jaundice...	ORPHA:1667
Autosomal Recessive Spastic Paraplegia Type 20	Skeletal muscle atrophy, Dysuria, Upper limb muscle weakness, Distal amyotrophy, Dysphagia, Hydro...	ORPHA:101000
Cockayne Syndrome A	Hepatomegaly, Renal insufficiency, Cataract, Proteinuria, Dry hair, Hip contracture, Cryptorchidi...	OMIM:216400
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Kyphoscoliosis, Renal hypoplasia/aplasia, Hyperlordosis, Abnormal rena...	ORPHA:363700
Revesz Syndrome	Aplastic anemia, Leukocoria, Nail pits, Fine hair, Bone marrow hypocellularity, Nail dystrophy, S...	OMIM:268130
15Q Overgrowth Syndrome	Contracture of the proximal interphalangeal joint of the 2nd finger, Ureterovesical stenosis, Abn...	ORPHA:314585
Ablepharon Macrostomia Syndrome	Absent eyebrow, Hypoplasia of penis, Corneal opacity, Camptodactyly of finger, Abnormal hair patt...	ORPHA:920
Omodysplasia 2	Short humerus, Micrognathia, Fibular hypoplasia, Limited elbow flexion/extension, Hypoplastic dis...	OMIM:164745
Craniosynostosis With Fibular Aplasia	Craniosynostosis, Fibular aplasia	OMIM:218550
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Abnormal heart morphology, Polyc...	ORPHA:2237
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg...	OMIM:618150
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Keratoconus, Kyphoscoliosis, Microcornea, Bladder diverticulum, Platyspondyly, Progressive congen...	OMIM:225400
Caroli Syndrome	Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,...	ORPHA:480520
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse eyebrow, Widow's peak, Conjunctiva...	ORPHA:2399
Stiff-Person Syndrome	Depression, Exaggerated startle response, Anemia, Opisthotonus	OMIM:184850
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Cataract, Knee flexion contracture, Coarse hair, Scoliosis, Sparse hair	OMIM:118650
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia	OMIM:613886
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Elevated circulating aspartate aminotransferase concentration, H...	ORPHA:2088
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
3Q29 Microduplication Syndrome	Cataract, Ventricular septal defect, Sclerocornea, Short neck, Camptodactyly of toe, Aniridia, Ir...	ORPHA:251038
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Diastasis recti, Cryptorchidism, Mitral valve prolapse, Microcornea, Nephrotic syndrome, Astigmat...	OMIM:601776
Webb-Dattani Syndrome	Neurogenic bladder, Cryptorchidism, Hyposthenuria, Vesicoureteral reflux, Hydronephrosis	OMIM:615926
Renpenning Syndrome 1	Cataract, Hypospadias, Ventricular septal defect, Brittle hair, Phimosis, Situs inversus totalis,...	OMIM:309500
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi...	ORPHA:1788
Cutis Laxa, Autosomal Recessive, Type Iiib	Cataract, Cryptorchidism, Developmental glaucoma, Flexion contracture, Elbow flexion contracture,...	OMIM:614438
Johanson-Blizzard Syndrome	Hepatic fibrosis, Atrial septal defect, Micropenis, Abnormality of the nail, Hepatomegaly, Hyposp...	OMIM:243800
Menkes Disease	Hypopigmentation of hair, Aplasia/Hypoplasia of the abdominal wall musculature, Bladder diverticu...	ORPHA:565
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Hyporeflexia of lower limbs, Exaggerated startle response, Multiple joint contractures, Pes cavus	ORPHA:320406
Meckel Syndrome, Type 3	Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p...	OMIM:607361
Megalocornea-Intellectual Disability Syndrome	Iridodonesis, Kyphosis, Hypoplasia of the iris, Astigmatism, Scoliosis, Megalocornea, Abnormal an...	ORPHA:2479
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Hypospadias, Overriding aorta, Sclerocornea, Ventricular septal defect, Congenital diap...	OMIM:309801
Wiedemann-Rautenstrauch Syndrome	Congenital malformation of the left heart, Wide penis, Synophrys, Hypoplastic vertebral bodies, S...	ORPHA:3455
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Trichodermodysplasia-Dental Alterations Syndrome	Sparse scalp hair, Brittle hair, Hyperlordosis, Fine hair, Sparse or absent eyelashes, Scoliosis,...	ORPHA:3353
Microphthalmia With Brain And Digit Anomalies	Cataract, Sclerocornea, Cryptorchidism, Microcornea, Nail dysplasia, Iris coloboma	ORPHA:139471
Orofaciodigital Syndrome Type 1	Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Br...	ORPHA:2750
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Ankle flexion contracture, Myopic astigmatism, Long eyelashes, Dysphagia, Abnormal repetitive man...	OMIM:617802
Ichthyosis, X-Linked	Testicular neoplasm, Opacification of the corneal stroma, Cryptorchidism	OMIM:308100
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Thrombocytosis, Leukocytosis, Hypochromic anemia	OMIM:618213
Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Ventricular septal defect, Cryptorchidism, Atrial septal defect,...	OMIM:300712
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:620292
Weaver Syndrome	Deep-set nails, Thin nail, Diastasis recti, Cryptorchidism, Kyphosis, Fine hair, Hydrocele testis...	OMIM:277590
Costello Syndrome	Deep-set nails, Curly hair, Renal insufficiency, Ventricular septal defect, Thin nail, Rhabdomyos...	OMIM:218040
Biliary, Renal, Neurologic, And Skeletal Syndrome	Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Hepa...	OMIM:619534
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Thoracic kyphosis, Abnormal repetitive mannerisms	OMIM:619092
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Fine hair, Anemia, Attention deficit hyperactivity disorder, Scoliosis, Atrial septal defect, Apl...	ORPHA:2637
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dry hair, Muscular ventricular septal defect, Low anterior hairline, Head-banging, Intrinsic hand...	OMIM:618569
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Abdominal mass, Cystic renal dysplasia	OMIM:615989
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Curly hair, Sacral dimple, Impulsivity, Hyperlordosis, Short neck, Low anterior hairline, Stereot...	OMIM:619950
Coloboma, Ocular, Autosomal Dominant	Vesicoureteral reflux, Corneal opacity, Peters anomaly	OMIM:120200
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Skeletal muscle atrophy, Neurogenic bladder, Urinary incontinence, Sparse eyebrow, Scoliosis, Dys...	ORPHA:496641
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Hypopigmentation of hair, Foot dorsiflex...	OMIM:214500
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Abnormality of the kidney, Short neck, Abnormal repetitive mannerisms, ...	ORPHA:177907
Cystinosis, Nephropathic	Skeletal muscle atrophy, Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-mo...	OMIM:219800
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest...	OMIM:613812
Childhood Disintegrative Disorder	Abnormal repetitive mannerisms, Urinary incontinence	ORPHA:168782
Menkes Disease	Sparse hair, Alopecia, Brittle hair	OMIM:309400
Arboleda-Tham Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Highly arched eyebrow, Bilateral c...	OMIM:616268
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Irritability, Joint contracture, Exaggerated startle response, Short attention span	OMIM:617864
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Craniolenticulosutural Dysplasia	Brittle hair, Posterior wedging of vertebral bodies, Coarse hair, Posterior Y-sutural cataract, S...	ORPHA:50814
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Brittle hair, Flexion contracture, Stage 5 chronic kidney disease, Sparse hair	OMIM:608612
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Thoracic scoliosis, Hypospadias, Short nail, Cervical kyphosi...	OMIM:114290
Autosomal Dominant Cutis Laxa	Corneal opacity, Unilateral renal agenesis, Dilatation of the ventricular cavity, Developmental c...	ORPHA:90348
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Hepatomegaly, Agitation, Abnormal repetitive mannerisms	ORPHA:927
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Flexion contracture	OMIM:618201
Charge Syndrome	Facial palsy, Highly arched eyebrow, Cryptorchidism, Hemivertebrae, Horseshoe kidney, Hydronephro...	ORPHA:138
Netherton Syndrome	Sparse scalp hair, Brittle hair, Brittle scalp hair, Sparse eyebrow, Hypereosinophilia	OMIM:256500
Mietens Syndrome	Microcornea, Cataract, Corneal opacity, Sclerocornea	ORPHA:2557
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Calf muscle pseudohypertrophy, Proteinuria, Cardiomyopathy, Myo...	ORPHA:79086
Autosomal Recessive Cutis Laxa Type 1	Recurrent urinary tract infections, Cataract, Wide anterior fontanel, Dilatation of the ventricul...	ORPHA:90349
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Scapular winging, Impulsivity, Abnormality of hair texture, Hypophosphaturia, Aggressive behavior...	ORPHA:73223
Monosomy 22Q13.3	Renal dysplasia, Hyperactivity, Sacral dimple, Hypoplastic toenails, Hair-pulling, Long eyelashes...	ORPHA:48652
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Abnormal repetitive mannerisms, Inappropriate laughter, Stereotypical hand wringing	OMIM:614104
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Nephrolit...	ORPHA:438213
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, Corneal neov...	ORPHA:163934
Fetal Hydantoin Syndrome	Cryptorchidism, Coarse hair, Hypoplastic fingernail, Low posterior hairline	ORPHA:1912
Myhre Syndrome	Vertebral fusion, Cataract, Ventricular septal defect, Short neck, Pericardial effusion, Cryptorc...	OMIM:139210
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Macrocephaly-Developmental Delay Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Hepatosplenomegaly	ORPHA:397612
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Secundum atrial septal defect, Attention deficit hyperactivit...	OMIM:620242
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Supernumerary nipple, Cryptorchidism, Fine hair, Aplastic/hypoplastic toenai...	ORPHA:1812
Fontaine Progeroid Syndrome	Atrial septal defect, Sparse scalp hair, Absent nipple, Bicuspid aortic valve, Cryptorchidism, Wi...	OMIM:612289
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Scoliosis, Compulsive behaviors, Abnormal repetitive mannerisms	OMIM:618430
Brachycephaly, Trichomegaly, And Developmental Delay	Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow	OMIM:617412
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Fine hair, Nail ...	OMIM:257980
Tibial Hemimelia	Absent tibia	OMIM:275220
Hyperekplexia 1	Umbilical hernia, Exaggerated startle response, Hip dislocation, Inguinal hernia	OMIM:149400
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Cryptorchidism, Alopecia, Fine hair	ORPHA:228390
Pearson Syndrome	Renal cyst, Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatomega...	ORPHA:699
Neurocardiofaciodigital Syndrome	Atrial septal defect, Cataract, Sclerocornea, Sparse eyebrow, Double inlet left ventricle, Sparse...	OMIM:619869
Orofaciodigital Syndrome I	Dry hair, Alopecia, Proteinuria, Pancreatic cysts, Abnormal heart morphology, Hepatic fibrosis, P...	OMIM:311200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Woolly hair, Right ventricular cardiomyopathy	OMIM:610193
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Focal Dermal Hypoplasia	Ridged nail, Ureteral duplication, Brittle hair, Congenital diaphragmatic hernia, Absent fingerna...	OMIM:305600
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Conjunctival icterus, Jaundice, Addictive al...	ORPHA:57777
Tay-Sachs Disease	Psychomotor deterioration, Exaggerated startle response, Dementia	OMIM:272800
Zttk Syndrome	Absent gallbladder, Curly hair, Ventricular septal defect, Polyuria, Unilateral renal agenesis, S...	OMIM:617140
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Hyperactivity, Facial palsy, Hyperlordosis, Cryptorchidism, A...	OMIM:615873
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchidism, Developm...	ORPHA:2108
Hallermann-Streiff Syndrome	Sparse scalp hair, Hyperactivity, Cataract, Sparse eyelashes, Hyperlordosis, Sparse eyebrow, Cryp...	OMIM:234100
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Hepatosplenomegaly, Hypoplastic vertebral bodies, Flared iliac wing...	ORPHA:79255
Olmsted Syndrome 2	Sparse hair, Woolly hair, Flexion contracture of digit, Alopecia universalis	OMIM:619208
White-Kernohan Syndrome	Hydroureter, Synophrys, Broad medial eyebrow, Horseshoe kidney, Long eyelashes, Horizontal eyebro...	OMIM:619426
Mucolipidosis Type Iv	Aplasia/Hypoplasia of the abdominal wall musculature, Corneal opacity	ORPHA:578
Amelo-Onycho-Hypohidrotic Syndrome	Hypoplastic toenails, Onycholysis, Abnormal fingernail morphology, Fine hair	ORPHA:1028
Diamond-Blackfan Anemia 21	Secundum atrial septal defect, Erythroid hypoplasia, Synophrys, Widow's peak, Anemia, Coarse hair...	OMIM:620072
Dentici-Novelli Neurodevelopmental Syndrome	Cataract, Abnormal repetitive mannerisms	OMIM:619877
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Erythrokeratodermia Variabilis Et Progressiva 7	Woolly hair, Dystrophic toenail	OMIM:619209
Wiedemann-Steiner Syndrome	Hyperactivity, Sacral dimple, Aggressive behavior, Synophrys, Long eyelashes, Dysphagia, Congenit...	ORPHA:319182
Peters-Plus Syndrome	Facial hypertrichosis, Ureteral duplication, Cataract, Hypospadias, Bilobate gallbladder, Ventric...	OMIM:261540
Bartsocas-Papas Syndrome 1	Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Ectopic kidney, Bilateral cryptorc...	OMIM:263650
Stiff Person Spectrum Disorder	Emotional lability, Exaggerated startle response	ORPHA:3198
Marshall-Smith Syndrome	Thoracic scoliosis, Brittle hair, Ventricular septal defect, Highly arched eyebrow, Kyphoscoliosi...	OMIM:602535
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Corneal opacity, Cryptorchidism, Buphthalmos, Congenital contracture, Peters anomaly, M...	OMIM:236670
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenom...	OMIM:269700
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Short neck, Flexion contracture, Renal cyst, Knee flexion contracture, Sparse hair, Atrial septal...	OMIM:210710
Spinocerebellar Ataxia-Dysmorphism Syndrome	Coarse hair, Spina bifida occulta	ORPHA:1185
Bainbridge-Ropers Syndrome	Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Synophrys, Hirsutism, Contracture of...	OMIM:615485
Sclerosteosis 1	Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Facial palsy secondary to cranial hyperost...	OMIM:269500
Oculodentodigital Dysplasia, Autosomal Recessive	Cataract, Sparse eyelashes, Fine hair, Microcornea, Persistent pupillary membrane, Sparse hair	OMIM:257850
Proboscis Lateralis	Abnormal eyebrow morphology, Cataract, Corneal opacity, Ventricular septal defect, Unilateral ren...	ORPHA:141099
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Corneal opacity, Ovoid vertebral bodies, Ectopia pupillae, Platyspondyly, Lens subluxation, Scoli...	ORPHA:85167
Kabuki Syndrome 1	Hemolytic anemia, Crossed fused renal ectopia, Ventricular septal defect, Highly arched eyebrow, ...	OMIM:147920
Premature Aging Syndrome, Penttinen Type	Corneal opacity, Corneal stromal edema, Scoliosis, Sparse hair, Joint contracture, Flexion contra...	OMIM:601812
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Atrichia, Periungual erythema, Atrial septal defect, Dystrophic fingernails, Absent eyebrow, Mult...	OMIM:308205
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Increased muscle lipid content, Abnormality o...	ORPHA:565612
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Diastasis recti, Flexion contracture, Macroglossia, Camptodactyly, Flexion contracture of finger,...	ORPHA:254528
Congenital Myopathy 17	Renal hypoplasia, Myopathy, Distal arthrogryposis, Diaphragmatic eventration, Ureteropelvic junct...	OMIM:618975
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Generalized muscul...	OMIM:608594
5Q14.3 Microdeletion Syndrome	Abnormal repetitive mannerisms, Thick eyebrow	ORPHA:228384
Fraser Syndrome 1	Absent eyebrow, Hypospadias, Corneal opacity, Renal hypoplasia/aplasia, Absent eyelashes, Cryptor...	OMIM:219000
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia, Mi...	OMIM:200980
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Sclerocornea, Short neck, Cryptorchidism, Camptodactyly, Micropenis	OMIM:614230
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Urinary incontinence, Asplenia, Abnormal pupil morphology, Flexion contrac...	ORPHA:261552
Copper Deficiency, Familial Benign	Curly hair, Early balding, Anemia	OMIM:121270
Intellectual Developmental Disorder, Autosomal Dominant 42	Neurogenic bladder, Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, D...	OMIM:616973
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Alopecia, Hydroureter, Abnormal intervertebral disk morphology, Abnormality of the kidney, Abnorm...	ORPHA:2636
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Hypercalciuria, Aminoaciduri...	OMIM:239200
Lathosterolosis	Elevated hepatic transaminase, Cataract, Bilobate gallbladder, Increased mean platelet volume, Ac...	OMIM:607330
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Pachyonychia Congenita 2	Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Sparse eyebrow, Nail dystrophy, Nail dyspl...	OMIM:167210
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Osteomyelitis, Leukocytosis, Abnormality of neutrophil physiology, Impair...	ORPHA:2968
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Increased bone mineral density, Pathologic fracture	OMIM:259900
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Conjugated hyperbilirubinemia, Early ossification of capital femoral epip...	OMIM:208500
Lacrimoauriculodentodigital Syndrome	Increased corneal thickness, Cryptorchidism, Renal hypoplasia, Dysphagia, Keratoconjunctivitis, H...	ORPHA:2363
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Bicuspid aortic valve, Synophrys, Abnormal curvature of the vertebral column, Tics, Co...	OMIM:619475
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Fine hair	ORPHA:3236
Den Hoed-De Boer-Voisin Syndrome	Recurrent urinary tract infections, Thick eyebrow, Ventricular septal defect, Widow's peak, Agita...	OMIM:619229
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Bilateral Generalized Polymicrogyria	Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia	ORPHA:208447
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Recurrent fractures, Elevated circulating creatine kinase concentration, Micrognath...	ORPHA:2785
Osteogenesis Imperfecta	Abnormal endocardium morphology, Corneal opacity, Cervical kyphosis, Kyphosis, Flexion contractur...	ORPHA:666
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Exaggerated startle response, Edema of the dorsum of fee...	ORPHA:521426
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Renal dysplasia, Curly hair, Sacral dimple, Cataract, Thoracolumbar scoliosis, Cyst of the ductus...	ORPHA:480880
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Neurogenic bladder, Abnormal repetitive mannerisms, Dysphagia	ORPHA:572013
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Hypospadias, Sclerocornea, Microcornea, Ectopia pupillae, Long eyelashes	OMIM:615877
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Cryptorchidism, Synophrys, Fetal pyelectasis, Low anterior hairline, Self-injuriou...	OMIM:619512
Niemann-Pick Disease, Type C2	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Dysphagia, Sea-blue ...	OMIM:607625
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux...	ORPHA:261537
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Cryptorchidism, Microphallus, Micropenis, Abnormal repetitive mannerisms, Self-mut...	OMIM:300486
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long finge...	OMIM:617527
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster...	OMIM:221900
Charge Syndrome	Secundum atrial septal defect, Hemivertebrae, Atrial septal defect, Micropenis, Self-mutilation, ...	OMIM:214800
Beckwith-Wiedemann Syndrome	Hepatomegaly, Hepatoblastoma, Diastasis recti, Cardiomegaly, Cryptorchidism, Pancreatic hyperplas...	OMIM:130650
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Lumbar hyperlordosis, Abnormal location of the eyebrow, Progressive flexion contractures, Repetit...	ORPHA:522077
Cutis Laxa, Autosomal Recessive, Type Ia	Bladder diverticulum, Congenital diaphragmatic hernia	OMIM:219100
Galactosialidosis	Conjunctival telangiectasia, Visceromegaly, Opacification of the corneal stroma, Hepatosplenomegaly	OMIM:256540
Kindler Epidermolysis Bullosa	Urethral stricture, Corneal opacity, Camptodactyly of finger, Phimosis, Flexion contracture, Neop...	ORPHA:2908
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Acromelic Frontonasal Dysplasia	Midline central nervous system lipomas, Patellar hypoplasia, Talipes equinovarus, Preaxial foot p...	ORPHA:1827
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d...	ORPHA:978
Encephalocraniocutaneous Lipomatosis	Alopecia, Corneal opacity, Abnormal eyelash morphology, Tricuspid valve prolapse, Aortic valve st...	ORPHA:2396
Apert Syndrome	Overriding aorta, Ventricular septal defect, Cryptorchidism, Cervical C5/C6 vertebrae fusion, Hyd...	OMIM:101200
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Cataract, Hypospadias, Corneal opacity, Ventricular septal defect, Ankle flexio...	OMIM:268300
Degcags Syndrome	Oral-pharyngeal dysphagia, Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Prematur...	OMIM:619488
Rett Syndrome	Skeletal muscle atrophy, Agitation, Cholecystitis, Scoliosis, Abnormal repetitive mannerisms, Ste...	ORPHA:778
Tuberous Sclerosis Complex	Renal insufficiency, Hyperactivity, Abnormality of the kidney, Impulsivity, Ungual fibroma, Aggre...	ORPHA:805
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei, Short neck, Thick eyebrow, Fine hair	OMIM:614800
Neurofibromatosis Type 1	Abnormal hair quantity, Cataract, Corneal opacity, Abnormality of the upper urinary tract, Crypto...	ORPHA:636
Mowat-Wilson Syndrome	Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux...	ORPHA:2152
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Fine hair, Premature graying of hair, Anemia, Bone marrow hypocellularity, Nail dysplasia, Nail d...	OMIM:612199
Lysinuric Protein Intolerance	Tubulointerstitial nephritis, Renal fibrosis, Leukopenia, Decreased glomerular filtration rate, H...	ORPHA:470
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Abnormal toenai...	ORPHA:30
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea	ORPHA:83461
Pfeiffer Syndrome Type 3	Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney	ORPHA:93260
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Moebius Syndrome	Skeletal muscle atrophy, Corneal opacity, Facial palsy, Aplasia of the pectoralis major muscle, B...	ORPHA:570
Omenn Syndrome	Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, L...	OMIM:603554
Chand Syndrome	Curly hair, Nail dysplasia	OMIM:214350
Pelvis-Shoulder Dysplasia	Back pain, Lumbar hyperlordosis, Opacification of the corneal stroma, Spina bifida occulta, Iris ...	OMIM:169550
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Camptodactyly of finger, Aggressive behavior, Cryptorchid...	OMIM:309000
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Impulsivity, Aggressive behavior, Tongue thrusting, Attention deficit hyperactivity disorder, Rec...	OMIM:619580
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hyp...	OMIM:251260
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Megaloblastic anemia, Abnormality of hair texture, Developmental cataract	ORPHA:79351
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response, Depression	OMIM:620114
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Aggressive behavior, Hyperlordosis, Myopic astigmatism, Synophrys, Hepatosplenomega...	OMIM:301066
Spastic Tetraplegia And Axial Hypotonia, Progressive	Ankle clonus, Exaggerated startle response, Overlapping toe	OMIM:618598
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly...	ORPHA:30391
Kinsship Syndrome	Sacral dimple, Short neck, Synophrys, Renal hypoplasia, Horseshoe kidney, Scoliosis, Bruxism, Abn...	OMIM:619297
Wolf-Hirschhorn Syndrome	Accessory spleen, Vertebral fusion, Rieger anomaly, Decreased muscle mass, Hypospadias, Ventricul...	OMIM:194190
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Abnormal repetitive mannerisms	OMIM:613443
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular car...	OMIM:232220
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Ventricular septal defect, Aggressive behavior, Short neck, Hair-pulling, Polyphagia...	OMIM:620330
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Ventricular septal defect, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebr...	ORPHA:1071
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t...	OMIM:276820
Neuroocular Syndrome	Scapular winging, Cataract, Brittle hair, Sacral dimple, Highly arched eyebrow, Brushfield spots,...	OMIM:619539
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Facial hypotonia, Diastasis recti, Supernumerary nipple, Abnormal repetitive mannerisms, Overfrie...	OMIM:616579
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Otopalatodigital Syndrome, Type Ii	Cataract, Hypospadias, Elbow contracture, Kyphoscoliosis, Short neck, Cryptorchidism, Wide anteri...	OMIM:304120
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Am...	OMIM:616026
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Ventricular septal defect, Head-banging, Renal tubular acidosis, Self-injurious behavior, Attenti...	OMIM:619575
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Aggressive behavior, Astigmatism, Obsessive-compulsive trait, Abnormal repetitive ...	ORPHA:168491
Autoimmune Polyendocrinopathy Type 1	Alopecia, Cataract, Abnormal fingernail morphology, Opacification of the corneal stroma	ORPHA:3453
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Short neck, Hepatic fibrosis, Polysplenia, Ascites, Cystic ren...	OMIM:200995
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Fine hair, Sparse hair	OMIM:613451
Alström Syndrome	Thoracic scoliosis, Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of th...	ORPHA:64
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Microphthalmia, Isolated, With Coloboma 9	Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea	OMIM:615145
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Stag...	OMIM:249100
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Hyperekplexia 2	Exaggerated startle response, Hiatus hernia	OMIM:614619
Hydrolethalus Syndrome 1	Accessory spleen, Omphalocele, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyl...	OMIM:236680
Foxg1 Syndrome Due To 14Q12 Microdeletion	Macroglossia, Kyphosis, Abnormal repetitive mannerisms, Scoliosis	ORPHA:261144
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu...	OMIM:243910
Chromosome 15Q11.2 Deletion Syndrome	Elbow contracture, Abnormal heart morphology, Compulsive behaviors, Attention deficit hyperactivi...	OMIM:615656
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Proteinuria, Hepatocellular c...	OMIM:232200
Familial Tumoral Calcinosis	Nephrocalcinosis, Hepatomegaly, Calcification of muscles, Splenomegaly	ORPHA:53715
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Distal lower limb amyotrophy, Alopecia, Corneal opacity, Anemia, Nail dystrophy, Onychogryposis	ORPHA:79396
Hyperekplexia 3	Exaggerated startle response, Hiatus hernia	OMIM:614618
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Platyspondyly, Moderate albuminuria, Hydronephrosis, Scoliosis	OMIM:619269
Nicolaides-Baraitser Syndrome	Absent eyebrow, Dry hair, Sparse scalp hair, Aggressive behavior, Cryptorchidism, Low anterior ha...	OMIM:601358
Camurati-Engelmann Disease	Hepatomegaly, Skeletal muscle atrophy, Facial palsy, Anorexia, Hyperlordosis, Splenomegaly, Kypho...	ORPHA:1328
Oculoauricular Syndrome	Cataract, Sclerocornea, Spina bifida occulta, Developmental cataract, Microcornea, Iris cyst, Pos...	OMIM:612109
Beckwith-Wiedemann Syndrome	Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Leiomyosarcoma, Hepatoblasto...	ORPHA:116
X-Linked Intellectual Disability, Cantagrel Type	Abnormal repetitive mannerisms	ORPHA:85277
Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Pericarditis, Pancreatitis, ...	ORPHA:900
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ...	ORPHA:2879
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Argininemia	Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Cholestasis, Diaminoaciduria, Port...	OMIM:207800
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Sparse scalp hair, Renal insufficiency, Proteinuria, Sparse eyelashes, Sparse eyebrow, Fine hair,...	OMIM:614748
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Generalized amyotrophy, ...	ORPHA:171
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Abnormal repetitive mannerisms, Urinary incontinence, Attention deficit hyperactivity disorder	ORPHA:98784
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Calf muscle hypertrophy, Exaggerated startle response, Flexion contracture, Elevated circulating ...	OMIM:253800
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op...	ORPHA:98957
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Cataract, Proteinuria, Hypoplasia of the iris, ...	OMIM:251300
Asparagine Synthetase Deficiency	Exaggerated startle response, Micrognathia, Tremor, Irritability, Large hands, Long foot, Hypoasp...	OMIM:615574
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Abnormal repetitive mannerisms, Facial hypotonia	OMIM:617807
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias, Ventricular sept...	OMIM:163950
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Sideroblastic anemia, Hepatomegaly, Pancytopenia, Pancreatic fibro...	OMIM:557000
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Sparse hair, Brittle hair, Absent nipple, Absent hair	OMIM:614940
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Genitopatellar Syndrome	Sparse scalp hair, Multicystic kidney dysplasia, Hip contracture, Ventricular septal defect, Cryp...	OMIM:606170
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dementia, Dystonia	OMIM:272750
Geleophysic Dysplasia 2	Hepatomegaly, Tricuspid stenosis, Ovoid vertebral bodies, Mitral valve prolapse, Aortic valve ste...	OMIM:614185
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Exaggerated startle response, Clinodactyly of the 5th finger, Truncal titubation	OMIM:618056
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp...	OMIM:305100
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Multiple joint contractures, Hypospadias, Camptodactyly of finger, Unilateral renal agenesis, Ank...	ORPHA:468631
Yunis-Varon Syndrome	Sparse scalp hair, Cataract, Hypospadias, Ventricular septal defect, Sclerocornea, Cardiomegaly, ...	ORPHA:3472
Pilarowski-Bjornsson Syndrome	Abnormal repetitive mannerisms, Long eyelashes, Broad eyebrow	OMIM:617682
Familial Mediterranean Fever	Acute hepatic failure, Pericarditis, Proteinuria, Orchitis, Splenomegaly, Peritonitis, Lymphadeno...	ORPHA:342
Hutchinson-Gilford Progeria Syndrome	Ventricular hypertrophy, Absent eyebrow, Mitral valve calcification, Corneal opacity, Mitral sten...	ORPHA:740
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Sparse hair, Coarse hair, Decreased muscle mass, Thick hair	ORPHA:357074
Classical Ehlers-Danlos Syndrome	Mitral valve prolapse, Bladder diverticulum, Abnormal cornea morphology, Scoliosis, Tricuspid val...	ORPHA:287
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Multicystic kidney dysplasia, Hydronephrosis, Muscular dystrophy, Opacification of the corneal st...	OMIM:615287
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect, Proteinuria, Cryptorchidism, Nail dysplasia, Scoliosis, Sparse hair, A...	OMIM:616682
Hypotonia, Ataxia, And Delayed Development Syndrome	Cryptorchidism, Synophrys, Astigmatism, Horizontal eyebrow, Dysphagia, Vesicoureteral reflux, Wea...	OMIM:617330
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Cryptorc...	ORPHA:649
Robinow Syndrome, Autosomal Dominant 1	Sacral dimple, Short neck, Cryptorchidism, Wide anterior fontanel, Macroglossia, Long eyelashes, ...	OMIM:180700
Mckusick-Kaufman Syndrome	Hydroureter, Cryptorchidism, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephrosis	OMIM:236700
Hereditary Acrokeratotic Poikiloderma	Camptodactyly of finger, Abnormal preputium morphology, Abnormality of the urethra, Keratoconjunc...	ORPHA:2907
Coffin-Siris Syndrome 12	Elevated hepatic transaminase, Sparse scalp hair, Hypospadias, Facial palsy, Highly arched eyebro...	OMIM:619325
Tyrosinemia Type 2	Corneal opacity, Abnormality of the nail	ORPHA:28378
Van Den Ende-Gupta Syndrome	Abnormal eyebrow morphology, Sacral dimple, Sclerocornea, Elbow flexion contracture, Dilatation o...	OMIM:600920
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Abnormal repetitive mannerisms, Thick eyebrow	ORPHA:529965
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Synophrys, Corneal opacity, Thin eyebrow, Small nail	ORPHA:364577
Hydroxykynureninuria	Renal tubular acidosis, Abnormal repetitive mannerisms	ORPHA:79155
Vascular Ehlers-Danlos Syndrome	Keratoconus, Alopecia, Hypospadias, Abnormal heart valve morphology, Abnormality of hair texture,...	ORPHA:286
Van Esch-O'Driscoll Syndrome	Sacral dimple, Ventricular septal defect, Impulsivity, Spina bifida occulta, Attention deficit hy...	OMIM:301030
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Curly hair, Lumbar hyperlordosis, Unilateral renal agenesis, Bilateral renal ...	ORPHA:500150
Viss Syndrome	Contracture of the proximal interphalangeal joint of the 2nd toe, Sparse scalp hair, Alopecia, Ve...	OMIM:619472
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Short attention span, Exaggerated startle response, Dystonia	ORPHA:438216
Osteopathia Striata With Cranial Sclerosis	Omphalocele, Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Craniofacial osteosclerosi...	OMIM:300373
Multiple Myeloma	Splenomegaly, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Nephropathy, Verte...	ORPHA:29073
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal defect, Corneal opacity, Synophrys, Ventricular septal hypertrophy, Small nail...	OMIM:608670
Primary Hyperoxaluria	Hyperoxaluria, Recurrent fractures, Generalized osteosclerosis	ORPHA:416
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Sandhoff Disease	Exaggerated startle response, Progressive psychomotor deterioration, Hepatosplenomegaly	OMIM:268800
Witteveen-Kolk Syndrome	Medial flaring of the eyebrow, Hyperactivity, Cataract, Hypospadias, Unilateral cryptorchidism, H...	OMIM:613406
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Cataract, Urethrovaginal fistula, Cryptorchidism, Congenital hepatic fibrosi...	ORPHA:93271
Microphthalmia, Syndromic 16	Sclerocornea	OMIM:611038
Rett Syndrome, Congenital Variant	Kyphosis, Tongue thrusting, Scoliosis, Bruxism, Abnormal repetitive mannerisms	OMIM:613454
Osteogenesis Imperfecta, Type Vii	Wide anterior fontanel, Vertebral compression fracture, Hydronephrosis, Scoliosis	OMIM:610682
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Phace Syndrome	Cataract, Sclerocornea, Lens coloboma, Abnormal heart morphology, Abnormal cardiac septum morphol...	ORPHA:42775
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Multiple joint contractures, Urinary incontinence, Hair-pulling, Synophrys, Dyspha...	ORPHA:447997
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Dilated cardiomyopathy, Sclerocornea	OMIM:300952
Juvenile Nephropathic Cystinosis	Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,...	ORPHA:411634
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Exaggerated startle response, Short femur, Tapered finger, Irritability	OMIM:618367
Sandhoff Disease, Infantile Form	Exaggerated startle response, Hepatosplenomegaly	ORPHA:309155
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics	OMIM:619725
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Torticollis, Thoracic scoliosis, Kyphoscoliosis, Congenital fibrosis of extraocular muscles, Abno...	ORPHA:300570
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormality of the pancreas, White hair, Fine hair, Lymphopenia, Anemia	ORPHA:935
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Cataract, Bicuspid aortic valve, Sutural cataract, Highly arched eyebrow, Frontal balding, Short ...	OMIM:612474
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Corneal crystals, Abnormal tubulointerstitial morphology, Renal tubular dysfun...	ORPHA:411629
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:610042
Aspartylglucosaminuria	Hepatomegaly, Aspartylglucosaminuria, Cataract, Kyphosis, Vacuolated lymphocytes, Macroglossia, P...	OMIM:208400
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Splenomegaly, Horseshoe kidney, Aplasia of the epiglottis, Nail dysplasia, Atrioven...	OMIM:617088
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Skeletal muscle atrophy, Hyperactivity, Hypospadias, Cryptorchidism, Flexion contracture, Low pos...	OMIM:309590
Primrose Syndrome	Skeletal muscle atrophy, Bilateral cryptorchidism, Synophrys, Flexion contracture, Knee flexion c...	OMIM:259050
Mucolipidosis Iii Alpha/Beta	Opacification of the corneal stroma, Scoliosis, Hyperopic astigmatism	OMIM:252600
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Contracture of the proximal interphalangeal joint of the 3rd finger, Ventricular septal defect, H...	OMIM:301044
Mesomelia-Synostoses Syndrome	Abnormal vertebral morphology, Hydronephrosis	OMIM:600383
Woodhouse-Sakati Syndrome	Alopecia, Fine hair, Sparse hair, Micropenis, Decreased testicular size	OMIM:241080
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,...	OMIM:106210
Xeroderma Pigmentosum	Conjunctival telangiectasia, Alopecia, Cataract, Keratitis, Cryptorchidism, Aminoaciduria, Opacif...	ORPHA:910
Developmental And Epileptic Encephalopathy 100	Synophrys, Bilateral camptodactyly, Elbow flexion contracture, Scoliosis, Dysphagia, Thoracolumba...	OMIM:619777
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Chand Syndrome	Curly hair, Hydroureter, Nail dysplasia	ORPHA:1401
Holoprosencephaly 3	Hydronephrosis	OMIM:142945
Cystic Fibrosis	Hepatomegaly, Cor pulmonale, Biliary cirrhosis, Hypercalciuria, Hepatosplenomegaly, Cirrhosis, Pa...	OMIM:219700
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak	ORPHA:1974
Goodpasture Syndrome	Anemia, Increased blood urea nitrogen	OMIM:233450
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ...	ORPHA:2753
Leptospirosis	Hepatomegaly, Pericarditis, Anorexia, Cellular urinary casts, Jaundice, Rhabdomyolysis, Hepatitis...	ORPHA:509
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of ...	OMIM:175780
Cerebral Creatine Deficiency Syndrome 1	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:300352
Developmental And Epileptic Encephalopathy 2	Abnormal repetitive mannerisms, Scoliosis	OMIM:300672
Yunis-Varon Syndrome	Sparse scalp hair, Cataract, Hypospadias, Ventricular septal defect, Sclerocornea, Absent nipple,...	OMIM:216340
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma, Cardiomegaly	ORPHA:79280
Intellectual Developmental Disorder, Autosomal Dominant 38	Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms	OMIM:616393
Coffin-Lowry Syndrome	Highly arched eyebrow, Kyphosis, Lumbar kyphosis, Hyperconvex fingernails, Coarse hair, Scoliosis...	OMIM:303600
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Astigmatism, Frontal upsweep of hair, Long eyelashes, Attenti...	OMIM:614756
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Ventricular septal defect, Repetitive compulsive behavior, Lower-limb joint contracture, Stereoty...	ORPHA:513456
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract	OMIM:221800
Apolipoprotein A-I Deficiency	Opacification of the corneal stroma	ORPHA:425
Homozygous Familial Hypercholesterolemia	Tendon xanthomatosis, Renal steatosis, Abnormal tendon morphology, Renal artery stenosis, Myocard...	ORPHA:391665
Microphthalmia, Syndromic 6	Microcornea, Cryptorchidism, Renal hypoplasia, Sclerocornea	OMIM:607932
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Buphthalmos, Muscular dystrophy, Opacification of the corneal stroma, Megalocornea	OMIM:253280
Nmda Receptor Encephalitis	Neoplasm of the thymus, Hypersexuality, Agitation, Testicular teratoma, Abnormal repetitive manne...	ORPHA:217253

Histopathology

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

Phenotype	Allele	Zygosity	Life Stage
Kidney - MPATH pathological process term vacuolation	Sgsh^em3(IMPC)Tcp	HOM	Early adult
Liver - MPATH pathological process term hydropic degeneration	Sgsh^em3(IMPC)Tcp	HOM	Early adult
Brain - MPATH pathological process term vacuolation	Sgsh^em3(IMPC)Tcp	HOM	Early adult
Uterus - MPATH pathological process term vacuolation	Sgsh^em3(IMPC)Tcp	HOM	Early adult
Ovary - MPATH pathological process term vacuolation	Sgsh^em3(IMPC)Tcp	HOM	Early adult
Liver - MPATH pathological process term vacuolation	Sgsh^em3(IMPC)Tcp	HOM	Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Sgsh.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Genetic mouse models of autism spectrum disorder present subtle heterogenous cardiac abnormalities.	Autism research : official journal of the International Society for Autism Research (April 2022)	Sgsh^em3(IMPC)Tcp	PMC9325472
Neurodevelopmental Changes in Excitatory Synaptic Structure and Function in the Cerebral Cortex of Sanfilippo Syndrome IIIA Mice.	Scientific reports (April 2017)	Sgsh^{tm1a(KOMP)Wtsi}	PMC5394534

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Sgsh^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Sgsh^em3(IMPC)Tcp	Indel	Mice, Tissue

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

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

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Sgsh MGI:1350341

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Histopathology

X-ray

X-ray

X-ray

Gross Pathology and Tissue Collection

Immunophenotyping

X-ray

Immunophenotyping

Human diseases caused by Sgsh mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data