| Major Depressive Disorder |
|
Depression |
OMIM:608516 |
| Major Affective Disorder 1 |
|
Mania, Depression |
OMIM:125480 |
| 7q11.23 duplication syndrome |
|
Short attention span |
DECIPHER:43 |
| Presenile Dementia, Kraepelin Type |
|
Dementia |
OMIM:176600 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
| Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
| Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
| Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly |
ORPHA:2956 |
| Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Scoliosis, Spina bifida oc... |
ORPHA:64754 |
| Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
| Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
| Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... |
OMIM:184400 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Neural Tube Defects, Susceptibility To |
|
Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Hydrocephalus, Myelomenin... |
OMIM:182940 |
| Spondylosis, Cervical |
|
Spondylolysis, Spina bifida occulta, Cervical spondylosis, Spondylolisthesis |
OMIM:184300 |
| Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
| Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
| Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
| Becker Nevus Syndrome |
|
Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Upper limb asymmet... |
ORPHA:64755 |
| Acrofacial Dysostosis, Catania Type |
|
Spina bifida occulta, Single transverse palmar crease, Short palm |
OMIM:101805 |
| White Forelock With Malformations |
|
Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Sprengel anomaly, Spi... |
ORPHA:2475 |
| Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Sacrococcygeal pilonidal abnormality, Hip dislocation, Slender long bone, Hypoplastic pelvis, Spi... |
ORPHA:2840 |
| Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
| Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Pelvis-Shoulder Dysplasia |
|
Back pain, Congenital hip dislocation, Hypoplastic scapulae, Lumbar hyperlordosis, Hypoplastic il... |
OMIM:169550 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Pectus excavatum, Tr... |
ORPHA:957 |
| Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Spina bifida occulta |
ORPHA:1514 |
| Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
| Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt... |
ORPHA:2311 |
| Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Epiphyseal stippling, Abnormal epiphysis morphology, Scoliosis, Limb undergrowth, Abn... |
ORPHA:177 |
| Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
| Fountain Syndrome |
|
Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Spina bifida, Pectus excavatum, Kyph... |
ORPHA:3219 |
| Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Congenital hip dislocation, Femur fracture, Single transverse palmar crease, Ulnar... |
OMIM:618291 |
| Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
| Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Three M Syndrome 1 |
|
Scapular winging, Short neck, Pectus excavatum, Increased vertebral height, Hyperlordosis, Short ... |
OMIM:273750 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Small hypothenar eminence, Spina bifida, Dermatoglyphic ridges abnormal, Small thenar eminence, T... |
OMIM:211960 |
| Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Down-sloping shoulders, Spina bifida, Kyphoscoliosis, Palmar pits, Hydrocephalu... |
OMIM:109400 |
| Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... |
OMIM:613686 |
| Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Thoracolumbar scoliosis, Myelome... |
ORPHA:2437 |
| Neuronal Intranuclear Inclusion Disease |
|
Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2289 |
| Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
| Acalvaria |
|
Holoprosencephaly, Postaxial hand polydactyly, Hydrocephalus, Spina bifida |
ORPHA:945 |
| Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polydactyly, Polycystic kidney dysplasia, Oligohydramnios |
OMIM:615397 |
| Isolated Klippel-Feil Syndrome |
|
Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder ... |
ORPHA:2345 |
| Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... |
ORPHA:93320 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Postaxial polydactyly |
OMIM:213010 |
| Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... |
OMIM:603546 |
| Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap... |
OMIM:618167 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short neck, Kyphosis, Short thorax, Genu valgum, Spina bifida occulta |
ORPHA:2983 |
| Lipedema |
|
Edema |
OMIM:614103 |
| Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
| Fryns Microphthalmia Syndrome |
|
Neural tube defect, Abnormality of the vertebral column, Facial cleft |
OMIM:600776 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Sandal gap, Pectus excavatum, Short toe, Prominent sternum, Clinodactyly of the... |
OMIM:617877 |
| Joubert Syndrome 15 |
|
Preaxial polydactyly, Exencephaly |
OMIM:614464 |
| Diaphanospondylodysostosis |
|
Missing ribs, Short neck, Myelomeningocele, Short thorax, Narrow pelvis bone, Enlarged thorax, Mu... |
ORPHA:66637 |
| Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Spinal dysraphism |
ORPHA:1114 |
| Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
Spina bifida occulta, Tethered cord |
OMIM:615281 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Abnormal thorax morphology, Upper limb phocomelia, Abnormality of the vertebral colum... |
ORPHA:294975 |
| Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Short neck, Small hand, Abnormal form of the vertebral bodies, Scoliosis, Spin... |
ORPHA:1787 |
| Acrocraniofacial Dysostosis |
|
Tapered finger, Coxa valga, Pectus excavatum, Abnormal form of the vertebral bodies, Ulnar deviat... |
ORPHA:949 |
| Isotretinoin Syndrome |
|
Sacral dimple, Spina bifida occulta |
ORPHA:2305 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... |
ORPHA:3268 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... |
ORPHA:2911 |
| Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx... |
ORPHA:2839 |
| Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Hydroceph... |
ORPHA:2635 |
| Richieri-Costa/Guion-Almeida Syndrome |
|
Palmoplantar cutis laxa, Spina bifida occulta, Abnormal digit morphology, Pectus excavatum |
OMIM:268850 |
| Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst |
OMIM:615987 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Exostoses, Multiple, Type Ii |
|
Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... |
OMIM:133701 |
| Exostoses, Multiple, Type I |
|
Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... |
OMIM:133700 |
| Meckel Syndrome, Type 8 |
|
Cleft upper lip, Cleft palate, Narrow chest, Polycystic kidney dysplasia, Hyperechogenic kidneys,... |
OMIM:613885 |
| Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Short neck, Clinodactyly of the 5th finger, Sp... |
OMIM:201000 |
| Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
| Acrofacial Dysostosis, Catania Type |
|
Finger syndactyly, Brachydactyly, Pectus excavatum, Small hand, Short palm, Clinodactyly of the 5... |
ORPHA:1786 |
| Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
| Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
| Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Down-sloping shoulders, Tapered finger, Abnormal thumb morphology, Abnormal... |
ORPHA:1452 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida |
ORPHA:2476 |
| Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Flexion contracture of finger, Shoulder flexion contracture, Rocker bottom foot,... |
OMIM:193700 |
| Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:614173 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Short thumb, Preaxial hand ... |
ORPHA:1120 |
| Hypercholanemia, Familial, 2 |
|
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia |
OMIM:619256 |
| Edinburgh Malformation Syndrome |
|
Failure to thrive, Neonatal hyperbilirubinemia |
OMIM:129850 |
| Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
| Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
| Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Renal hypoplasia/aplasia, Long penis, Abnormal rib morphology, Rib fusi... |
ORPHA:1988 |
| Limb Body Wall Complex |
|
Cutaneous finger syndactyly, Aplasia of the proximal phalanges of the hand, Spina bifida occulta,... |
ORPHA:2369 |
| Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
| Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
| Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
| Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
| Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration |
OMIM:619874 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Scapular winging, Toe syndactyly, Brachydactyly, Camptodactyly of finger, Spina bi... |
ORPHA:1327 |
| Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Spina bifida occulta, Scoliosis |
OMIM:618736 |
| Caudal Duplication |
|
Spina bifida, Myelomeningocele, Abnormal sacrum morphology, Bifid sacrum, Spinal cord lesion, Ver... |
ORPHA:1756 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... |
OMIM:609052 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha... |
OMIM:613095 |
| Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Cubitus valgus, Slender long bone, Spina bifida occulta |
ORPHA:1185 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... |
ORPHA:94088 |
| Anophthalmia Plus Syndrome |
|
Vertebral segmentation defect, Facial cleft, Spina bifida |
ORPHA:1104 |
| Brachydactyly, Type A1, B |
|
Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of... |
OMIM:607004 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypoplastic scapulae, Short lingual frenulum, Hypospadias, Short uvula, Renal hypoplasia, Cleft p... |
OMIM:614091 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Facial cleft, Holoprosencephaly, Scoliosis, Anterior encephalocele |
OMIM:601357 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiati... |
OMIM:263200 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
| Jawad Syndrome |
|
Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd... |
OMIM:251255 |
| Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia |
OMIM:620010 |
| Alagille Syndrome |
|
Hypoplasia of the ulna, Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:52 |
| Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... |
OMIM:614723 |
| Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... |
OMIM:617056 |
| Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Pectus carinatum, Spina bifida occulta, Hypoplastic cervical... |
OMIM:150250 |
| Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Stroke, P... |
ORPHA:90064 |
| Aicardi Syndrome |
|
Block vertebrae, Spina bifida, Missing ribs, Proximal placement of thumb, Rib fusion, Hemivertebr... |
OMIM:304050 |
| Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Abse... |
OMIM:607323 |
| Lamb-Shaffer Syndrome |
|
Overlapping toe, Long fingers, Vertebral clefting, Pectus carinatum, Scoliosis, Clinodactyly, Lon... |
OMIM:616803 |
| Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
| Craniosynostosis 6 |
|
Spina bifida occulta, Scoliosis |
OMIM:616602 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Hyperlordosis, High iliac wing, Asymmetry of the thorax, Scoliosis, Large iliac wing, Abnormal me... |
ORPHA:2780 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Spinal cord compression, Myelopathy, Abnormality of the vertebral column |
OMIM:602475 |
| Isolated Hemihyperplasia |
|
Myelomeningocele, Asymmetry of the thorax, Scoliosis |
ORPHA:2128 |
| Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
| Septopreoptic Holoprosencephaly |
|
Abnormal midbrain morphology, Hypoplasia of the pons, Coarctation of aorta, Rhombencephalosynapsi... |
ORPHA:280195 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
| Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
| Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... |
ORPHA:1826 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Spina bifida occulta |
ORPHA:230839 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Spina bifida occulta |
OMIM:618060 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Nonimmune hydrops fetalis, Lymphedema, Hypoplastic iliac wing, Pectus excavatum, Periorbital edem... |
OMIM:235510 |
| Joubert Syndrome 16 |
|
Encephalocele, Polydactyly, Renal cyst |
OMIM:614465 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... |
ORPHA:730 |
| Congenital Vertical Talus |
|
Myelomeningocele, Rocker bottom foot, Equinus calcaneus |
ORPHA:178382 |
| Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:3111 |
| Crigler-Najjar Syndrome Type 1 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
| Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate |
OMIM:242530 |
| Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
| Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Abnormal oral mucosa morphology, Malabsorpt... |
ORPHA:85445 |
| Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Abnormal thorax morphology, Small hand, Narrow palm, Holopr... |
ORPHA:1445 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Short neck, Small hand, Abnormal rib morphology, Short foot, Spina bifida occulta, Thickened cort... |
ORPHA:488434 |
| Gombo Syndrome |
|
Clinodactyly, Radial deviation of finger, Brachydactyly |
OMIM:233270 |
| Malaria |
|
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
| Distal Deletion 10Q |
|
Scapular winging, Lumbar hyperlordosis, Sandal gap, Single transverse palmar crease, Tapered fing... |
ORPHA:96148 |
| Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... |
ORPHA:93323 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Pectus excavatum, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyl... |
ORPHA:166024 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Re... |
OMIM:603194 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Polycystic kidney dysplasia, Increased circulating very long-chain fatty acid conce... |
OMIM:614859 |
| Cerebrofaciothoracic Dysplasia |
|
Polyhydramnios, Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow ches... |
ORPHA:1394 |
| Hypouricemia, Renal, 1 |
|
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... |
OMIM:220150 |
| Camptodactyly Syndrome, Guadalajara, Type Iii |
|
Small hypothenar eminence, Short neck, Absent phalangeal crease, Spina bifida occulta, Small then... |
OMIM:611929 |
| Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida, Micromelia |
ORPHA:63862 |
| Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Long coccyx, Narrow greater sciatic notch, Halberd-shaped... |
OMIM:156530 |
| Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Postaxial hand polydactyly, Hydrocephalus,... |
OMIM:607361 |
| Arthrogryposis, Distal, Type 2B2 |
|
Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Shor... |
OMIM:618435 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Neph... |
OMIM:145001 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
| Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Short neck, Edema, Polyhydra... |
OMIM:616038 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... |
OMIM:619902 |
| Familial Cervical Artery Dissection |
|
Striae distensae, Carotid artery dissection, Transient ischemic attack, Facial palsy, Subarachnoi... |
ORPHA:36382 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Thoracic hypop... |
OMIM:617866 |
| C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
| Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... |
OMIM:615170 |
| 3Mc Syndrome |
|
Hyperlordosis, Hip dislocation, Radioulnar synostosis, Prominent coccyx, Scoliosis, Caudal append... |
ORPHA:293843 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
| Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia |
OMIM:615993 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Death in infancy, Hepatomegaly, Eleva... |
OMIM:608836 |
| Scalp Defects-Postaxial Polydactyly Syndrome |
|
Encephalocele, Postaxial polydactyly type A |
ORPHA:1003 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Polyhydramnios, Scoliosis, Camptodactyly, Clinodactyly, Spina bifida occulta |
OMIM:617360 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Beaking of vertebral bodies, Hyperextensibility of the finger joints, Vertebral fusion, Sacral di... |
OMIM:213980 |
| Osteopathia Striata With Cranial Sclerosis |
|
Multicystic kidney dysplasia, Arachnodactyly, Polyhydramnios, Pectus excavatum, Thoracolumbar kyp... |
OMIM:300373 |
| Joubert Syndrome 18 |
|
Occipital encephalocele, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Kyphosc... |
OMIM:614815 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Pallor, Anemia |
ORPHA:46532 |
| Thomas Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Cleft palate, Cleft upper lip |
ORPHA:3316 |
| Nail-Patella Syndrome |
|
Back pain, Biceps aplasia, Lumbar hyperlordosis, Glenoid fossa hypoplasia, Spina bifida, Pectus e... |
OMIM:161200 |
| Acropectoral Syndrome |
|
Pectus excavatum, Partial duplication of thumb phalanx, Preaxial polydactyly, Pectus carinatum, T... |
OMIM:605967 |
| Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, 2-3 toe syndactyly, Cubitus valgus, Clinodactyly, ... |
OMIM:610313 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Thin upper lip vermilion, Hepatomegaly, Proteinuria, Glomerulonephritis, Elevated circulating cre... |
OMIM:614376 |
| Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Sacral dimple, Ulnar deviation of the hand, Postaxial polydactyly, Posta... |
OMIM:614175 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Pectus excavatum, Fused cervical vertebrae, Sprengel anomaly, Spina bifida occulta, Butterfly ver... |
OMIM:619227 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... |
OMIM:184250 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Lateral clavicle hook, Horizontal r... |
OMIM:613091 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia |
OMIM:179700 |
| Dural Sinus Malformation |
|
Papilledema, Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Hydrocephalus, Cerebellar ... |
ORPHA:97339 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Polyhydramnios, Lateral clavicle hook, Bell-shaped thorax, Short long bone... |
OMIM:615633 |
| Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
| Sirenomelia |
|
Absence of the sacrum, Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia |
ORPHA:3169 |
| Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum |
ORPHA:63260 |
| Hemihyperplasia, Isolated |
|
Myelomeningocele, Scoliosis |
OMIM:235000 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Pectus excavatum, Rib fusion, Symphalangism affecting... |
ORPHA:2990 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulo... |
OMIM:231680 |
| Phaver Syndrome |
|
Broad hallux phalanx, Camptodactyly of finger, Short thumb, Myelomeningocele, Abnormal rib morpho... |
ORPHA:2876 |
| 46,Xy Sex Reversal 4 |
|
Renal dysplasia, Elevated circulating creatinine concentration, Cleft palate, High palate, Increa... |
OMIM:154230 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... |
OMIM:609616 |
| Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Kyphoscoliosis, Postaxial hand polydactyly, Genu v... |
ORPHA:65759 |
| Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Death in infancy, Pectus carinatum, Narrow chest, Polycystic kidney dy... |
OMIM:184260 |
| Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
| Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... |
ORPHA:1801 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Thin ribs... |
OMIM:300863 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Facial cleft, Optic nerve hypoplasia, Ethmoidal encephalocele |
OMIM:607597 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus, Preaxial polydactyly |
ORPHA:141333 |
| Internal Carotid Absence |
|
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage |
ORPHA:981 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Abnormal bleeding, Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate ... |
ORPHA:75564 |
| Preeclampsia |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated circulating creatinine c... |
ORPHA:275555 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
| Brachyolmia Type 3 |
|
Barrel-shaped chest, Short neck, Spinal cord compression, Kyphosis, Proximal femoral metaphyseal ... |
OMIM:113500 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| 6P22 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Hydrocephalus, Short neck |
ORPHA:251046 |
| Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Hydranencephaly, Spina bifida, Kyphosis, Myelomeningocele, Meningoc... |
ORPHA:1393 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... |
OMIM:617405 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... |
ORPHA:228308 |
| Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Abnormal pl... |
OMIM:273800 |
| Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Urethral stenosis, Orofacial cleft, Cleft palate, Wide mouth... |
ORPHA:261290 |
| Joubert Syndrome 14 |
|
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Hydrocephalus, Mening... |
OMIM:614424 |
| Schneckenbecken Dysplasia |
|
Polyhydramnios, Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Nonimmune hydro... |
OMIM:269250 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
| Holzgreve Syndrome |
|
Renal agenesis, Renal hypoplasia, Cleft palate, Cleft upper lip |
OMIM:236110 |
| Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
| Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Hepatomegaly, Renal cyst |
OMIM:614870 |
| Blepharocheilodontic Syndrome 1 |
|
Neural tube defect, Clinodactyly, Cutaneous syndactyly |
OMIM:119580 |
| Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia |
ORPHA:517 |
| Hydrolethalus Syndrome 2 |
|
Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Postaxial foot polydactyly, Preaxial foot... |
OMIM:614120 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Syndactyly, Aplasia/Hypoplasia of the middle phalanges o... |
OMIM:151050 |
| Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Colonic diverticula, Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:173900 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Enlarged kidney |
OMIM:615285 |
| Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Hydrocephalus, Pallor,... |
ORPHA:163596 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chronic kidney disease, ... |
OMIM:613845 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Small hand, Short foot, Short 5th finger, Cubitus valgus, Clinodactyly |
OMIM:300577 |
| Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Sacral dimple, Toe syndactyly, Sandal gap, Abnormality of thumb ... |
ORPHA:235 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the dentition, Carious teeth, Pectus excavatum, Abno... |
ORPHA:3270 |
| Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Absent radius, Preaxial hand polydactyly, Hypoplasia... |
ORPHA:233 |
| Indomethacin Embryofetopathy |
|
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology |
ORPHA:1909 |
| Diaphanospondylodysostosis |
|
Nephrogenic rest, Thoracic hypoplasia, Missing ribs, Nephroblastomatosis, Cleft palate, Horseshoe... |
OMIM:608022 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Branchiootorenal Syndrome 1 |
|
Renal dysplasia, Renal malrotation, Intestinal malrotation, Unilateral renal agenesis, Renal stea... |
OMIM:113650 |
| Iniencephaly |
|
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Hyperlordosis, Polyhydramnios, Myelo... |
ORPHA:63259 |
| Joubert Syndrome 7 |
|
Encephalocele, Postaxial polydactyly, Postaxial hand polydactyly, Renal cyst, Genu valgum, Scoliosis |
OMIM:611560 |
| 3Mc Syndrome 1 |
|
Sacral dimple, Single interphalangeal crease of fifth finger, Wide anterior fontanel, Short foot,... |
OMIM:257920 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp... |
ORPHA:79233 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... |
OMIM:610947 |
| Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Pectus excavatum, Nephroblastoma, Enlarged kidney |
OMIM:618272 |
| Aneurysm, Intracranial Berry, 2 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage |
OMIM:608542 |
| Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar... |
OMIM:253000 |
| Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... |
ORPHA:474 |
| Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Cerebral cavernous malformation |
OMIM:116860 |
| Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia, Chiari malform... |
OMIM:207950 |
| Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnormal form of the ver... |
ORPHA:1354 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Hydrocephalus, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral... |
ORPHA:2180 |
| Oculocerebrocutaneous Syndrome |
|
Hydrocephalus, Facial cleft, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology, Dandy-... |
ORPHA:1647 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia |
OMIM:237800 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
| Hepatic Veno-Occlusive Disease |
|
Increased body weight, Increased total bilirubin |
ORPHA:890 |
| Frontonasal Dysplasia 1 |
|
Postaxial hand polydactyly, Anterior basal encephalocele, Pectoral muscle hypoplasia/aplasia, Rad... |
OMIM:136760 |
| Mosaic Trisomy 9 |
|
Spina bifida, Short neck, Asplenia, Patent ductus arteriosus, Hemivertebrae, Facial cleft, Scolio... |
ORPHA:99776 |
| Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Tapered finger, Pectus excavatum, Short neck, Lymphedema, Flattened epiphys... |
OMIM:607131 |
| Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... |
OMIM:123550 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiac arrest, Megaloblastic anemia, Paroxysmal atrial tachycardia, Congestive heart failure, Op... |
ORPHA:49827 |
| Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syn... |
ORPHA:93322 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Tethered cord, Sandal gap, Macrodactyly, Spinal dysraphism, Scoliosis |
OMIM:612918 |
| Zimmermann-Laband Syndrome 3 |
|
Aplasia of the distal phalanx of the 5th toe, Kyphosis, Absent distal phalanx of the 2nd toe, Abs... |
OMIM:618658 |
| Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... |
OMIM:183600 |
| Achondrogenesis Type 1B |
|
Micromelia, Short neck, Polyhydramnios, Short thorax, Abnormal rib morphology, Hydrops fetalis, S... |
ORPHA:93298 |
| Renal Tubular Dysgenesis |
|
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts |
ORPHA:3033 |
| Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Abnormal brainstem m... |
ORPHA:231160 |
| Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Hyperca... |
ORPHA:251004 |
| Humero-Radial Synostosis |
|
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Meningocele, Abnormality o... |
ORPHA:3265 |
| Neurocutaneous Melanocytosis |
|
Meningocele, Intracranial hemorrhage, Syringomyelia, Chiari malformation, Aplasia/Hypoplasia of t... |
ORPHA:2481 |
| Congenital Factor Xiii Deficiency |
|
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... |
ORPHA:331 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Toe syndactyly, Single transverse palmar crease, 4-5 toe syndactyly, 3-5 toe syndactyly, Bilatera... |
OMIM:300707 |
| Achondrogenesis, Type Ib |
|
Micromelia, Edema, Hypoplastic ilia, Polyhydramnios, Hydrops fetalis, Narrow chest, Short ribs, A... |
OMIM:600972 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Small for gestational age, Neonatal hyperbilirubinemia |
ORPHA:3363 |
| Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... |
ORPHA:168549 |
| Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... |
ORPHA:169802 |
| Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, Rectal atresia, Stage 5 chronic kidney disease, Renal cyst, Neonat... |
OMIM:613390 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Hallux valgus, Sacral dimple, Arachnodactyly, Broad hallux, Proximal placement of thumb, Tapered ... |
OMIM:613776 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Hepatosplenomegaly, Wide mouth, Polycystic kidney dysplasia, Long philtrum |
OMIM:608776 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... |
OMIM:618858 |
| Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat... |
OMIM:271650 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Hydrocephalus, Men... |
ORPHA:1908 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Pectus excavatum, Splenomegaly, Pectus carinatum, Death in childhood, ... |
OMIM:617303 |
| Bardet-Biedl Syndrome 7 |
|
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:615984 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Narrow chest, Scoliosis, Hepatic cysts, Brachydactyly |
OMIM:613819 |
| Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Absent thumb, Hypoplastic ilia, Short thumb, Partial duplication of thumb phala... |
OMIM:105650 |
| Noonan Syndrome With Multiple Lentigines |
|
Scapular winging, Pectus excavatum, Pectus carinatum, Scoliosis, Sprengel anomaly, Spina bifida o... |
ORPHA:500 |
| Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
| Sacral Defect With Anterior Meningocele |
|
Back pain, Myeloschisis, Absence of the sacrum, Hemisacrum, Tethered cord, Myelomeningocele, Hydr... |
OMIM:600145 |
| Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... |
OMIM:617927 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara, Broad palm... |
ORPHA:93351 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Anemia, Purpura, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
| Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Small hand, Rib fusion, Hip dysplasia, Supernumerary ribs, Bifid r... |
ORPHA:50 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Renal dysplasia, Left ventricular hypertrophy, Elevated circulating creatinine concentration, Abn... |
OMIM:616733 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
| Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the vertebral bodies, Clavicu... |
ORPHA:2790 |
| Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short... |
OMIM:600325 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
| Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
| Pseudoachondroplasia |
|
Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epip... |
OMIM:177170 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Edema of the dorsum of hands, Lateral clavicle hook, Femoral bowing,... |
OMIM:274000 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia... |
OMIM:617049 |
| Incontinentia Pigmenti |
|
Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, Absent hand, Deviation of f... |
ORPHA:464 |
| Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Scapular winging, Elevated circulating creatine kinase concentration, Elevated circ... |
ORPHA:26791 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... |
OMIM:606176 |
| Peripheral Cone Dystrophy |
|
Optic disc pallor, Optic atrophy, Pallor |
OMIM:609021 |
| Gómez-López-Hernández Syndrome |
|
Abnormal cerebellum morphology, Hydrocephalus, Cerebellar vermis hypoplasia, Abnormal brainstem m... |
ORPHA:1532 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Facial cleft |
ORPHA:1791 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Aplastic clavicle, Micromelia, Short neck, Hydrocephalus, Polyhydramnios, ... |
OMIM:616546 |
| Popliteal Pterygium Syndrome |
|
Cutaneous finger syndactyly, Spina bifida occulta, Talipes equinovarus |
OMIM:119500 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Coxa var... |
OMIM:608940 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
| Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Erythema, In... |
ORPHA:449285 |
| Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hernia, Hyperbilirubinemia, Hiatus hernia |
ORPHA:101009 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Hydrocephalus, Abnormal mast cell morphology |
ORPHA:398189 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Abnormality of the vertebral column, Abnormal vertebral morphology, Facial cleft |
OMIM:239800 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... |
OMIM:614300 |
| Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Polyhydramnios, Delayed epiphyseal... |
OMIM:114290 |
| Townes-Brocks Syndrome 2 |
|
Spina bifida occulta, Scoliosis |
OMIM:617466 |
| Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Venous insufficiency, Skin ulcer, Intracranial hemorrhage, Arteriovenous malf... |
ORPHA:624 |
| Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Short neck, Hypo... |
OMIM:187600 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Cleft palate, Aminoaciduria, Polycystic kidney dysplasia, Death in childhood, Eleva... |
OMIM:214110 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Hydrocephalus, Polydactyly |
OMIM:602501 |
| Coach Syndrome 2 |
|
Molar tooth sign on MRI, Hypertension, Hydrocephalus, Cerebellar vermis hypoplasia |
OMIM:619111 |
| Afibrinogenemia, Congenital |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Prolonged bleedi... |
OMIM:202400 |
| Thoraco-Abdominal Enteric Duplication |
|
Diastomatomyelia, Meningocele, Camptodactyly of finger, Missing ribs |
ORPHA:1759 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Coloboma |
OMIM:251505 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Stillbirth, Enlarged kidney, Cystic renal dysplasia, Hepatic cysts |
OMIM:615415 |
| Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Proteinuria, Hematuria, Decreased serum creatinine, Acute kidney injury |
ORPHA:54057 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Esophageal atresia, Tracheoesophageal fistula, Urethral atresia, Neonatal death, Enlarged kidney,... |
OMIM:314390 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, P... |
OMIM:608728 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Finger syndactyly, Broad hallux phalanx, Sacral dimple, Preaxial hand polydactyly,... |
ORPHA:2211 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Hydrocephalus... |
ORPHA:163966 |
| Leopard Syndrome 1 |
|
Scapular winging, Limited elbow movement, Missing ribs, Pectus excavatum, Short neck, Kyphoscolio... |
OMIM:151100 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Lateral clavicle hook, Cleft palat... |
OMIM:263520 |
| Tarsal-Carpal Coalition Syndrome |
|
Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ... |
OMIM:186570 |
| Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Gingival bleeding,... |
ORPHA:3002 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Intestinal malrotation, Hepatic cysts, Pancreatic cysts, Splen... |
OMIM:208540 |
| Achondrogenesis Type 1A |
|
Multiple rib fractures, Micromelia, Short neck, Polyhydramnios, Short thorax, Hydrops fetalis, Sh... |
ORPHA:93299 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Pallor, Poikilocyto... |
OMIM:615631 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Increased ... |
OMIM:274150 |
| Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxi... |
ORPHA:99147 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Abnormal thumb morphology, Metatarsus adductus, Tibial bowing, Larg... |
ORPHA:500095 |
| Factor Xiii, A Subunit, Deficiency Of |
|
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... |
OMIM:613225 |
| Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
| Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
| Vitamin K Antagonist Embryofetopathy |
|
Short neck, Myelomeningocele, Hydrocephalus, Punctate vertebral calcifications, Epiphyseal stippl... |
ORPHA:1914 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Type II diabetes mel... |
OMIM:616860 |
| Hogue-Janssen Syndrome 2 |
|
Broad hallux, Postaxial polydactyly, Pectus excavatum, Hydrocephalus, Hip dysplasia, Scoliosis, D... |
OMIM:616362 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Aqueductal stenosis, Abno... |
ORPHA:3035 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... |
OMIM:300539 |
| Drug-Induced Lupus Erythematosus |
|
Hematuria, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr... |
ORPHA:231111 |
| Isolated Polycystic Liver Disease |
|
Increased total bilirubin |
ORPHA:2924 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
| Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyly, Spina bifid... |
OMIM:305600 |
| Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Renal... |
OMIM:611561 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro... |
ORPHA:853 |
| Genitopalatocardiac Syndrome |
|
Renal cyst, Hypospadias, Cleft palate, Cleft upper lip |
OMIM:231060 |
| Orofaciodigital Syndrome Xi |
|
Hypoplasia of the odontoid process, Kyphoscoliosis, Postaxial polydactyly |
OMIM:612913 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Clinodactyly, Ulnar deviation of the wrist, Hydrocephalus, Scoliosis |
OMIM:618577 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Hypoplast... |
OMIM:607778 |
| Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... |
OMIM:223800 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Polyhydramnios, Narrow chest, Severe limb shortening, Radial bowing, Rhiz... |
OMIM:151210 |
| Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
| Distal Triplication 15Q |
|
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Abnormal sternum mor... |
ORPHA:314588 |
| Van Esch-O'Driscoll Syndrome |
|
Sacral dimple, Short middle phalanx of finger, Scoliosis, Clinodactyly of the 5th finger, Spina b... |
OMIM:301030 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
| Diabetic Embryopathy |
|
Hydrocephalus, Abnormal sacrum morphology, Spinal dysraphism, Vertebral segmentation defect, Abno... |
ORPHA:1926 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Micromelia, Coxa vara, Platyspondyly, Flared, irregular rib ends, Short palm |
ORPHA:168555 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Molar toot... |
OMIM:611134 |
| Growth Delay Due To Insulin-Like Growth Factor I Resistance |
|
Pectus excavatum, Clinodactyly, Short palm |
ORPHA:73273 |
| Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Renal cyst |
OMIM:615982 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hypoglycemic seizures, Obesity, Hyperbilirubinemia |
OMIM:609734 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Splenomegaly, Hyperlipidemia, Oral ulcer, Nephrolithiasis, Focal segme... |
OMIM:232220 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Pallor |
ORPHA:2786 |
| Moderate Hemophilia A |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... |
ORPHA:169805 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
| Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... |
OMIM:187760 |
| 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 |
| Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... |
ORPHA:2260 |
| Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... |
OMIM:235400 |
| Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
| Mucopolysaccharidosis, Type Ivb |
|
Ulnar deviation of the wrist, Ovoid vertebral bodies, Coxa valga, Epiphyseal deformities of tubul... |
OMIM:253010 |
| Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finger, Proximal placeme... |
ORPHA:628 |
| Holt-Oram Syndrome |
|
Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit... |
ORPHA:392 |
| Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
| Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Rib fusion, Hemivertebrae, Short r... |
OMIM:173800 |
| Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Cleft lip, Stage 5 c... |
OMIM:616730 |
| Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibi... |
ORPHA:175 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,... |
OMIM:218600 |
| Hiatt-Neu-Cooper Neurodevelopmental Syndrome |
|
Clinodactyly, 2-3 toe syndactyly |
OMIM:619311 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... |
ORPHA:49041 |
| Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, ... |
ORPHA:508488 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Short neck, Short metatarsal, Tibial bowing, Femoral bowing, Narrow c... |
OMIM:304120 |
| Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
| Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia |
OMIM:601775 |
| 15Q24 Microdeletion Syndrome |
|
Proximal placement of thumb, Abnormal thumb morphology, Abnormal toe morphology, Myelomeningocele... |
ORPHA:94065 |
| Lipoyltransferase 1 Deficiency |
|
Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin |
OMIM:616299 |
| Waardenburg Syndrome Type 1 |
|
Sprengel anomaly, Meningocele, Scoliosis, Spina bifida |
ORPHA:894 |
| Orthostatic Hypotension 1 |
|
Hypomagnesemia, High palate, Nocturia, Increased blood urea nitrogen |
OMIM:223360 |
| Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... |
ORPHA:284388 |
| Mosaic Trisomy 14 |
|
Hypoplasia of penis, Hypospadias, Abnormal rib morphology, Cleft palate, Wide mouth, Ectopic anus... |
ORPHA:1703 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia |
OMIM:616278 |
| Abetal34V Amyloidosis |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324703 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pectus excavatum, Pericardial effusion, Small hand, Pectus carinatum, Broad finger, Clinodactyly,... |
OMIM:614684 |
| Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Pallor |
OMIM:606353 |
| Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
| Vacterl With Hydrocephalus |
|
Absence of the sacrum, Spina bifida, Polyhydramnios, Aqueductal stenosis, Hydrocephalus, Hypoplas... |
ORPHA:3412 |
| Joubert Syndrome 10 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:300804 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Cleft upper lip, Abnormal rib morpholo... |
OMIM:601076 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries |
ORPHA:90301 |
| Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia, Hyp... |
OMIM:227810 |
| Biliary Atresia, Extrahepatic |
|
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
| Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger... |
ORPHA:90652 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Cleft palate, Hypocalcemia, Poly... |
ORPHA:2237 |
| Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormality of... |
ORPHA:2319 |
| Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Stroke, Cerebellar hypoplasia, Cerebral hemorrhage |
OMIM:300049 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Death in infancy, Hepatomegaly, Ectopic kidney, Neonatal death, Cystic renal dysplasia |
OMIM:613730 |
| Enlarged Parietal Foramina |
|
Occipital encephalocele, Myelomeningocele, Broad thumb, Short clavicles |
ORPHA:60015 |
| Parkes Weber Syndrome |
|
Abnormal bleeding, Back pain, Peripheral arteriovenous fistula, Subarachnoid hemorrhage, Cerebral... |
ORPHA:90307 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, I... |
ORPHA:3226 |
| Evans Syndrome |
|
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Neutropenia in presence of a... |
ORPHA:1959 |
| Distal Deletion 13Q |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Anencephaly, Abnormal fo... |
ORPHA:1590 |
| Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Joubert Syndrome 9 |
|
Encephalocele, Molar tooth sign on MRI, Scoliosis |
OMIM:612285 |
| Trisomy 20P |
|
Finger syndactyly, Camptodactyly of finger, Spina bifida, Short neck, Preaxial hand polydactyly, ... |
ORPHA:261318 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Optic disc pallor, Hypertrophic cardiomyopathy, Optic atrophy, Pallor |
OMIM:612989 |
| Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Polyhydramnios, Hypoplastic iliac wing, Prominent fingertip pads... |
OMIM:180849 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia, Smooth philtrum |
OMIM:263210 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... |
ORPHA:136 |
| Primary Myelofibrosis |
|
Abnormal bleeding, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Portal hypertensio... |
ORPHA:824 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia |
OMIM:613986 |
| Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Patent ductus arter... |
ORPHA:60041 |
| Hypomelanosis Of Ito |
|
Syndactyly, Kyphosis, Hand polydactyly, Scoliosis, Radial deviation of finger, Clinodactyly |
OMIM:300337 |
| Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
| Split Cord Malformation |
|
Back pain, Hemivertebrae, Abnormal thoracic spine morphology, Tethered cord, Hyperlordosis, Talip... |
ORPHA:573278 |
| Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
| Optic Atrophy 1 |
|
Optic atrophy, Pallor |
OMIM:165500 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Polyhydramnios, Hypoplastic ilia, Wide-cupped costo... |
OMIM:187601 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Single transverse palmar crease, Short neck, Kyphosis, Bell-shaped thorax, Scoliosis, Clinodactyly |
ORPHA:178148 |
| Mirage Syndrome |
|
Thrombocytopenia, Hydrocephalus, Patent ductus arteriosus, Intracranial hemorrhage, Leukopenia, A... |
OMIM:617053 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Leukocytosis... |
ORPHA:90065 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrhage, Melena, Oral cavity bleedi... |
ORPHA:98870 |
| Joubert Syndrome 4 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th... |
OMIM:609583 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Osteolysis involving bones of the upper limbs, Short thorax, Osteolysis involving bon... |
ORPHA:88630 |
| Prieto Syndrome |
|
11 pairs of ribs, Coxa valga, Talipes equinovarus, Radial deviation of finger, Clinodactyly |
OMIM:309610 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Clinodactyly |
ORPHA:500166 |
| Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, H... |
OMIM:232200 |
| Supernumerary Nostril |
|
Facial cleft |
ORPHA:141096 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... |
ORPHA:93267 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
ORPHA:766 |
| Acquired Purpura Fulminans |
|
Shock, Pyoderma gangrenosum, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura... |
ORPHA:49566 |
| Facial Clefting, Oblique, 1 |
|
Tessier number 4 facial cleft |
OMIM:600251 |
| Boudin-Mortier Syndrome |
|
Long toe, Mallet finger, Arachnodactyly, Pectus excavatum, Long fingers, Pseudoepiphyses of the p... |
OMIM:619543 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Renal insufficiency, Hepatomegaly, Renal hypoplasia, Renal cyst, Renal tubular ... |
OMIM:614922 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
| Cloacal Exstrophy |
|
Spina bifida, Abnormal tibia morphology, Myelomeningocele, Absent foot, Hip dislocation, Abnormal... |
ORPHA:93929 |
| Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... |
OMIM:619636 |
| Acrofacial Dysostosis, Weyers Type |
|
Advanced eruption of teeth, Facial cleft |
ORPHA:952 |
| Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Polyhydramnios, Hydrops fetalis, Tetraphocomelia, Hypoplastic vertebral ... |
OMIM:215140 |
| Lymphangiectasia, Intestinal |
|
Malabsorption, Stillbirth, Intestinal lymphangiectasia, Prominent floating ribs, Neonatal hypopro... |
OMIM:152800 |
| Phakomatosis Pigmentokeratotica |
|
Scoliosis, Spina bifida, Hemiatrophy, Lymphedema |
ORPHA:2874 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:243300 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Lumbar h... |
ORPHA:370959 |
| Vater/Vacterl Association |
|
Syndactyly, Occipital encephalocele, Tethered cord, Spina bifida, Absent radius, Short thumb, Hyp... |
OMIM:192350 |
| Orofaciodigital Syndrome I |
|
Median cleft lip, Proteinuria, Hamartoma of tongue, Cleft upper lip, Carious teeth, Pancreatic cy... |
OMIM:311200 |
| Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag... |
ORPHA:98878 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Camptodactyly of finger, Metatarsus adductus, Wide anterior fontanel, Hydroceph... |
OMIM:607872 |
| Imagawa-Matsumoto Syndrome |
|
Clinodactyly, Umbilical hernia, Large hands, Camptodactyly |
OMIM:618786 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Failure to thrive, ... |
ORPHA:73272 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Death in infancy, Hepatomegaly, Elevated circulating creatinine concentration, Hypoalbuminemia, P... |
OMIM:608104 |
| Fibrochondrogenesis 2 |
|
Thoracic hypoplasia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone,... |
OMIM:614524 |
| Campomelia, Cumming Type |
|
Bowing of the long bones, Abnormally ossified vertebrae, Multicystic kidney dysplasia, Micromelia... |
ORPHA:1318 |
| Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Sideroblastic anemia, Hypertrophic cardiomyopathy, Pallor |
OMIM:613561 |
| Orofaciodigital Syndrome Xvii |
|
Short neck, Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central... |
OMIM:617926 |
| Sneddon Syndrome |
|
Facial palsy, Cerebral hemorrhage, Hypertension, Stroke, Ischemic stroke, Lymphopenia |
OMIM:182410 |
| Xanthinuria, Type Ii |
|
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... |
OMIM:603592 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Coloboma |
ORPHA:324416 |
| Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia |
OMIM:214900 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| Coloboma Of Macula With Type B Brachydactyly |
|
Coloboma |
OMIM:120400 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemi... |
OMIM:617156 |
| Say Syndrome |
|
Proximal renal tubular acidosis, Cleft palate, Cystic renal dysplasia |
OMIM:181180 |
| Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Crumpled long bones, Bowing of the long bones, Kyphosis, Abnormal ri... |
ORPHA:2050 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Flared metaphysis, Coxa v... |
OMIM:602111 |
| Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Edema, Mesomelic/rhizomelic ... |
ORPHA:2347 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Tapered finger, Short neck, Hip dislocation, Thin ribs, Irregular vertebr... |
OMIM:618395 |
| 1P36 Deletion Syndrome |
|
11 pairs of ribs, Camptodactyly of finger, Kyphosis, Rib fusion, Spinal canal stenosis, Renal cys... |
ORPHA:1606 |
| Leishmaniasis |
|
Abnormal bleeding, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Skin ulcer, Anemia... |
ORPHA:507 |
| Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Cranial nerve compression, Palpitations, Pallor, P... |
ORPHA:94080 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Skin ulcer, Anemia, Pallor, Hypertrophic ca... |
ORPHA:848 |
| Bachmann-Bupp Syndrome |
|
Hypoglycemia, Hyperbilirubinemia, Large for gestational age |
OMIM:619075 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Coloboma |
OMIM:613703 |
| Mycophenolate Mofetil Embryopathy |
|
Bifid thoracic vertebrae, Hydrocephalus, Facial cleft, Coarctation of aorta |
ORPHA:268249 |
| Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
| Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Hypogeusia, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Glomeru... |
OMIM:223900 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Short neck, Thoracic kyphosis, Short palm, Clinodactyly of the 5th finger, Th... |
ORPHA:508498 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Death in infancy, Hepatomegaly, Hypospadias, Conjugated hyperbilirubinemia, Splenomegaly, Elevate... |
OMIM:614866 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension, Arterial stenosis |
ORPHA:820 |
| Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
| Primary Angiitis Of The Central Nervous System |
|
Cerebral vasculitis, Transient ischemic attack, Intracranial hemorrhage, Pseudopapilledema, Stroke |
ORPHA:140989 |
| Zimmermann-Laband Syndrome 1 |
|
Hyperextensibility of the finger joints, Scoliosis, Short distal phalanx of toe, Umbilical hernia... |
OMIM:135500 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Short neck, P... |
ORPHA:3082 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis... |
OMIM:250420 |
| Focal Dermal Hypoplasia |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Abnormal palmar dermatoglyphics,... |
ORPHA:2092 |
| Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polydactyly, Short neck,... |
OMIM:619879 |
| Joubert Syndrome 39 |
|
Occipital encephalocele, Polycystic kidney dysplasia, Joint contracture of the 5th finger, Postax... |
OMIM:619562 |
| Factor Vii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... |
OMIM:227500 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Umbilical hernia, Abnormal circulating thyroglobulin level |
ORPHA:95715 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short thorax, Short metatarsa... |
OMIM:617102 |
| Hyperparathyroidism, Transient Neonatal |
|
Unilateral renal agenesis, Undulate ribs, Thin ribs, Ovarian cyst, Short ribs, Narrow chest, Frac... |
OMIM:618188 |
| Fibrochondrogenesis 1 |
|
Short neck, Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th fi... |
OMIM:228520 |
| Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Renal hypoplasia/aplasia, Cleft palate, Tooth agenesis, Multiple renal cysts, Vesicoureteral refl... |
ORPHA:1166 |
| Verheij Syndrome |
|
Branchial cyst, Vertebral fusion, Short neck, Hip dislocation, Hemivertebrae, Renal cyst, Short 5... |
OMIM:615583 |
| Doors Syndrome |
|
11 pairs of ribs, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Polyhydramnios, Abnormal to... |
ORPHA:79500 |
| Endocrine-Cerebroosteodysplasia |
|
Barrel-shaped chest, Natal tooth, Median cleft lip, Hypospadias, Bilateral cleft lip, Microphallu... |
OMIM:612651 |
| Frontonasal Dysplasia 3 |
|
Facial cleft |
OMIM:613456 |
| Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
| Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
| Hijazi-Reis Syndrome |
|
Hyperbilirubinemia |
OMIM:301094 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac ... |
ORPHA:239 |
| Acrorenal Syndrome |
|
Renal insufficiency, Abnormal renal morphology, Cleft palate, Renal hypoplasia/aplasia |
ORPHA:971 |
| Unilateral Ocular Duplication |
|
Encephalocele, Midline facial cleft |
ORPHA:3374 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Polyhydramnios, Hydrocephalus, Renal corticomedullary cysts, Postaxial polydactyly |
OMIM:219730 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Proximal femoral metaphyseal irregularity, Early ossification of capital... |
ORPHA:397715 |
| Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
| Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Abnormal rib morphology, Abnormal localization of kidney, Hydronephrosi... |
ORPHA:195 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Hydrocephalus, Thoracic scoliosis, Postaxial polydactyly |
OMIM:603387 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Tyrosinemia, Type I |
|
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein conce... |
OMIM:276700 |
| Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Optic disc pallor, Cerebellar vermis hypoplasia, Portal h... |
OMIM:216360 |
| Keipert Syndrome |
|
Broad hallux, Broad distal phalanx of finger, Camptodactyly, Clinodactyly, Broad thumb, Brachydac... |
OMIM:301026 |
| Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage |
OMIM:614483 |
| Abeta Amyloidosis, Iowa Type |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324708 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplastic scapulae, Renal agenesis, Missing ribs, Abnormality of the ureter, Narrow palate, Thi... |
OMIM:200980 |
| Vacterl/Vater Association |
|
Finger syndactyly, Occipital encephalocele, Abnormal intervertebral disk morphology, Multicystic ... |
ORPHA:887 |
| Joubert Syndrome 32 |
|
Molar tooth sign on MRI, Abnormal cerebellum morphology, Hypertrophic cardiomyopathy |
OMIM:617757 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormality of the philtrum, Hypospadias, Abnormality of the dentit... |
ORPHA:276422 |
| Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
| Joubert Syndrome 30 |
|
Molar tooth sign on MRI, Cerebellar atrophy, Superior cerebellar dysplasia, Dandy-Walker malforma... |
OMIM:617622 |
| Temple Syndrome |
|
Hydrocephalus, Small hand, Short foot, Scoliosis, Clinodactyly |
OMIM:616222 |
| Cerebral Visual Impairment |
|
Optic disc pallor, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Intracranial hemorrhage,... |
ORPHA:447788 |
| Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han... |
OMIM:200600 |
| Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
| Trisomy X |
|
Pectus excavatum, Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
| X-Linked Sideroblastic Anemia |
|
Splenomegaly, Pallor, Anemia |
ORPHA:75563 |
| Infantile Sialic Acid Storage Disease |
|
Conjugated hyperbilirubinemia, Failure to thrive |
OMIM:269920 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Long palm, Arachnodactyly, Polyhydramnios, Missing ribs, Abnormal rib morphology, Hemivertebrae, ... |
ORPHA:2759 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi... |
ORPHA:465 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... |
ORPHA:464321 |
| Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Patent ductus arteriosus, Facial cleft, Abnormality of the vert... |
ORPHA:861 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
| Waardenburg Syndrome, Type 1 |
|
Spina bifida, Myelomeningocele, Supernumerary ribs, Supernumerary vertebrae, Sprengel anomaly |
OMIM:193500 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Thin upper lip vermilion, Hepatomegaly, Increased circulating thyroglobulin level, Hiatus hernia,... |
OMIM:610199 |
| Wildervanck Syndrome |
|
Facial palsy, Short neck, Meningocele, Fused cervical vertebrae, Pseudopapilledema |
ORPHA:3456 |
| Terminal Osseous Dysplasia |
|
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh... |
OMIM:300244 |
| Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal insufficiency, Intestinal... |
ORPHA:2970 |
| Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia |
OMIM:619232 |
| Pelger-Huet Anomaly |
|
Kyphosis, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Umbilical hernia, Short 4th ... |
OMIM:169400 |
| Oculomaxillofacial Dysostosis |
|
Facial cleft |
ORPHA:1794 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypertriglyceridemia, Proteinuria, Carious teeth, Hyperlipidemia, Oral ulcer, Gingi... |
ORPHA:79259 |
| Trisomy 18 |
|
Camptodactyly of finger, Spina bifida, Postaxial hand polydactyly, Anencephaly, Abnormal rib morp... |
ORPHA:3380 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Polyhydramnios, Lateral clavicle hook, Preaxial polydactyly, F... |
OMIM:615503 |
| Amish Lethal Microcephaly |
|
Cerebellar vermis hypoplasia, Optic atrophy, Spina bifida |
ORPHA:99742 |
| Arachnoid Cyst |
|
Encephalocele, Back pain, Facial palsy, Subarachnoid hemorrhage, Spinal cord compression, Abnorma... |
ORPHA:2356 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Wide anterior fontanel, Fibul... |
OMIM:201170 |
| Hypophosphatasia, Infantile |
|
Vertebral clefting, Intracranial hemorrhage, Platyspondyly, Stillbirth, Unossified vertebral bodi... |
OMIM:241500 |
| Fetal Gaucher Disease |
|
Pancytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage, Stillbirth, Neona... |
ORPHA:85212 |
| Leber Congenital Amaurosis 14 |
|
Optic disc pallor, Pallor |
OMIM:613341 |
| Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Hypoalbuminemia, Hype... |
ORPHA:1667 |
| Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:617127 |
| Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Abnormal thoracic spine morphology, Epidural hemorrhage, Epistaxis, Thrombocyt... |
ORPHA:464329 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... |
ORPHA:906 |
| Idiopathic Congenital Hypothyroidism |
|
Umbilical hernia, Neonatal hyperbilirubinemia |
ORPHA:95717 |
| Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, Wide mouth... |
OMIM:243910 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Barrel-shaped chest, Proteinuria, Heparan sulfate excretion in urine, Pectus carinatum, Hepatospl... |
ORPHA:505248 |
| Imerslund-Gräsbeck Syndrome |
|
Abnormal bleeding, Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Megaloblastic a... |
ORPHA:35858 |
| Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ... |
ORPHA:158057 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst |
OMIM:611773 |
| Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
| Harderoporphyria |
|
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia |
OMIM:618892 |
| Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Pectus excavatum, Cl... |
OMIM:618348 |
| Cerebrooculonasal Syndrome |
|
Facial cleft |
ORPHA:66625 |
| Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
| Short-Rib Thoracic Dysplasia 12 |
|
Edema, Bowing of the legs, Short neck, Polyhydramnios, Thoracic dysplasia, Holoprosencephaly, Nar... |
OMIM:269860 |
| Alkuraya-Kucinskas Syndrome |
|
Overlapping toe, Edema, Pericardial effusion, Hydrocephalus, Cutaneous syndactyly, Pleural effusi... |
OMIM:617822 |
| Constricting Bands, Congenital |
|
Encephalocele, Facial cleft, Scoliosis |
OMIM:217100 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... |
ORPHA:91387 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Scoliosis, Broad dista... |
OMIM:615761 |
| Isolated Posterior Meningocele |
|
Tethered cord, Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural t... |
ORPHA:268810 |
| Acromelic Frontonasal Dysostosis |
|
Encephalocele, Dilation of Virchow-Robin spaces, Optic nerve hypoplasia, Midline facial cleft, Re... |
OMIM:603671 |
| Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C... |
ORPHA:411634 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Phelan-Mcdermid Syndrome |
|
Abnormality of the kidney, Dental malocclusion, High palate, Widely spaced teeth, Polycystic kidn... |
OMIM:606232 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Clinodactyly |
OMIM:300928 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Pectus carinatum, Hypoplastic iliac wing, Abnormal vertebra... |
ORPHA:93315 |
| Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Lateral cla... |
OMIM:617895 |
| Axial Mesodermal Dysplasia Spectrum |
|
Short neck, Missing ribs, Hydrocephalus, Abnormal rib morphology, Abnormal form of the vertebral ... |
ORPHA:1834 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Hyperlordosis, Pallor, Hypochromic ... |
OMIM:600462 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Leukopenia, Gingiv... |
ORPHA:99828 |
| Trisomy 1Q |
|
Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Polyhydram... |
ORPHA:261344 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Hypoglycemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased... |
OMIM:617093 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Failure to thrive, Hyperbilirubinemia |
OMIM:235555 |
| Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
| Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
| Aapoaiv Amyloidosis |
|
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem... |
ORPHA:439232 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Spinal ... |
ORPHA:231222 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Short 5th finger, Polydactyly, Ectrodactyly, Small placenta, Clinodactyly of the 5th ... |
ORPHA:397590 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Pectus excavatum, Pierre-Robin sequence, Abnormal rib mo... |
OMIM:602196 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Short neck, Pectus excavatum, Hyperlordosis, Kyphosis, Spinal cord ... |
ORPHA:2522 |
| Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Abno... |
ORPHA:1488 |
| Cockayne Syndrome Type 1 |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Delayed eruption of primary teeth, Abnormality of... |
ORPHA:90321 |
| Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Stroke,... |
OMIM:263400 |
| Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Clinodactyly, Scoliosis |
OMIM:619091 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia, Failure to thrive |
OMIM:619484 |
| Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Hypoplastic scapulae, Increased serum beta-hexosaminidase, Thoracolumbar kyphoscoli... |
OMIM:252500 |
| Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
| Medulloblastoma |
|
Back pain, Cerebellar calcifications, Cerebellar hemorrhage, Hydrocephalus, Spinal cord tumor, Ce... |
ORPHA:616 |
| Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirub... |
OMIM:251880 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Hydrocephalus, Scoliosis, Mol... |
ORPHA:220493 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Clinodactyly, Scoliosis |
OMIM:300934 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, Neonatal hyperbilirubinemia, ... |
ORPHA:348 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Megaloblastic anemia, Increased mean corpuscular volume, Pallor, Cerebellar hypopla... |
OMIM:613839 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Arachnodactyly, Pectus excavatum, Thoracic kyphosis, Clinodactyly |
OMIM:619092 |
| Cerebrocostomandibular Syndrome |
|
Ectopic kidney, Renal cyst, Anteriorly placed anus, Glossoptosis, High palate, Rib gap, 10 pairs ... |
OMIM:117650 |
| Arthrogryposis, Distal, Type 5 |
|
Arachnodactyly, Decreased palmar creases, Limited wrist extension, Pectus excavatum, Kyphosis, Ab... |
OMIM:108145 |
| Coffin-Siris Syndrome 1 |
|
Sacral dimple, Sandal gap, Single transverse palmar crease, Aplasia/Hypoplasia of the patella, Ap... |
OMIM:135900 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... |
ORPHA:79 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Hydrocephalus, Scoliosis, Mol... |
ORPHA:2318 |
| Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
| Gracile Bone Dysplasia |
|
Hydrocephalus, Flared metaphysis, Thin ribs, Slender long bone, Ascites, Brachydactyly |
OMIM:602361 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Renal dysplasia |
OMIM:236500 |
| 3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ... |
ORPHA:2616 |
| Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
| Glycogen Storage Disease Vii |
|
Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin |
OMIM:232800 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Decreased serum bile acid concentration, Failure to thrive, Hyperbilirubinemia |
OMIM:214950 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Conjugated hyperbilirubinemia, Arthrogryposis multiplex congenita, Failure to thrive, Glycosuria |
OMIM:613404 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Tethered cord, Butterfly vertebrae, Spinal dysraphism |
OMIM:617660 |
| Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Edema, Short tubular... |
OMIM:200610 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Hydrocephalus, Scoliosis, Mol... |
ORPHA:220497 |
| Cornelia De Lange Syndrome 2 |
|
Proximal placement of thumb, Limited elbow movement, Short neck, Small hand, Short foot, Clinodac... |
OMIM:300590 |
| Osteogenesis Imperfecta, Type Ix |
|
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis, Short lower ... |
OMIM:259440 |
| Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Hyperlordosis, Metatarsus adductus, Kyphosis, Small hand, Scapular muscle atrop... |
OMIM:181405 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
| Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:91547 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Wide anterior fontanel, Ab... |
ORPHA:2021 |
| Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Abnormal rib morphology, Renal agenesis, Renal dysplasia, Ectopic kidney |
ORPHA:2578 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Cerebral hemorrhage, Dense calcifications in the cerebellar dentate nucleus |
ORPHA:542310 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Polyhydramnios, Short neck, Abnormality of the elbow, Abnormal rib morphology, Abnormal form of t... |
ORPHA:1486 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, Flat... |
OMIM:616300 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short neck, Short ... |
ORPHA:2756 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Metaphyseal... |
OMIM:300232 |
| Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis |
OMIM:610205 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Renal cyst, Death in childhood, Proximal tubulopathy, Hypoalbumine... |
OMIM:602579 |
| Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Short thorax, Pectus carinatum... |
OMIM:612921 |
| Peters Plus Syndrome |
|
Sacral dimple, Toe syndactyly, Rhizomelia, Multicystic kidney dysplasia, Micromelia, Short neck, ... |
ORPHA:709 |
| Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum |
ORPHA:588 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Conjugated hyperbilirubinemia, Failure to thrive, Hyperbilirubinemia, Abnormal serum bile acid co... |
ORPHA:79303 |
| Muenke Syndrome |
|
Broad hallux, Capitate-hamate fusion, Cone-shaped epiphyses of the phalanges of the hand, Short m... |
OMIM:602849 |
| Mitchell-Riley Syndrome |
|
Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia |
OMIM:615710 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Pseudo-Torch Syndrome 2 |
|
Petechiae, Cerebral hemorrhage, Patent ductus arteriosus, Bradycardia, Cerebellar hypoplasia, Thr... |
OMIM:617397 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Hypochromia, Anemia |
OMIM:615234 |
| Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... |
OMIM:300751 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276556 |
| Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol... |
OMIM:142900 |
| Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... |
ORPHA:774 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Coronary artery ather... |
ORPHA:280679 |
| Joubert Syndrome 2 |
|
Encephalocele, Agenesis of cerebellar vermis, Brainstem dysplasia, Hydrocephalus, Optic disc colo... |
OMIM:608091 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... |
OMIM:620138 |
| Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Autoimmune thrombocytopenia, Abnormal ery... |
ORPHA:324636 |
| Familial Thyroid Dyshormonogenesis |
|
Umbilical hernia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:95716 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect |
OMIM:608681 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Nocturia, Increas... |
ORPHA:230 |
| Wyburn-Mason Syndrome |
|
Peripheral arteriovenous fistula, Epistaxis, Subarachnoid hemorrhage, Abnormal cerebral vascular ... |
ORPHA:53719 |
| Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
| Neurofibromatosis, Type I |
|
Spina bifida, Aqueductal stenosis, Pectus excavatum, Hydrocephalus, Tibial pseudarthrosis, Genu v... |
OMIM:162200 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
| Jacobsen Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Multicystic kidney dysplasia, Spina bifi... |
ORPHA:2308 |
| Tempi Syndrome |
|
Facial erythema, Intracranial hemorrhage, Telangiectasia, Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Superficial Siderosis |
|
Abnormal bleeding, Back pain, Cerebellar atrophy, Abnormal cerebellar vermis morphology, Subarach... |
ORPHA:247245 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Short 5th metacarpal, Radial bowing, Broad hallux, Rhizomelia, Thoracolumbar scol... |
OMIM:618019 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
| H Syndrome |
|
Hypertriglyceridemia, Abnormality of the kidney, Malabsorption, Cleft upper lip, Gingival overgro... |
ORPHA:168569 |
| Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
| Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Toe syndactyly, Hydranencephaly, Rocker bottom foot, Micromelia, Spina bifida,... |
OMIM:256520 |
| Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Single transverse palmar crease, Polyhydramnios, Short neck, Hemivertebrae, Tibial bowing, Narrow... |
ORPHA:96334 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276575 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Splenome... |
ORPHA:731 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
| Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Leukocytosis, Hypertension, Cerebellar hypoplasia, Congenital thrombocytopen... |
OMIM:618886 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
| Rhombencephalosynapsis |
|
Finger syndactyly, Hydrocephalus, Polydactyly, Complete duplication of thumb phalanx, Short phala... |
ORPHA:59315 |
| Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cell carcinoma, Renal cyst |
OMIM:135150 |
| Polysyndactyly With Cardiac Malformation |
|
Stillbirth, Hepatic cysts, Renal cyst |
OMIM:263630 |
| Frontonasal Dysplasia 2 |
|
Encephalocele, Agenesis of cerebellar vermis, Tessier number 13 facial cleft, Cerebellar vermis h... |
OMIM:613451 |
| Moebius Syndrome |
|
Syndactyly, Brachydactyly, Short neck, Split hand, Abnormal pelvic girdle bone morphology, Talipe... |
OMIM:157900 |
| Weaver Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i... |
OMIM:277590 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276580 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Renal hypoplasia, Renal cyst, Ol... |
ORPHA:97362 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Short neck, Kyphoscoliosis, Edema, Abnormal thorax morphology,... |
OMIM:302960 |
| Mulchandani-Bhoj-Conlin Syndrome |
|
Clinodactyly, 2-3 toe syndactyly, Scoliosis, Hyperlordosis |
OMIM:617352 |
| Cole-Carpenter Syndrome 2 |
|
Pectus excavatum, Kyphosis, Hydrocephalus, Thin ribs, Platyspondyly, Narrow iliac wing, Oligohydr... |
OMIM:616294 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Multiple renal cysts, Renal cyst |
OMIM:614883 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Abnormal clavicle morphology, Sh... |
ORPHA:958 |
| Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Nonimmune hydrops fetalis, Beaded ribs, Tibial bowing, Thi... |
OMIM:166210 |
| Hallermann-Streiff Syndrome |
|
Spina bifida, Abnormality of the hand, Pectus excavatum, Hyperlordosis, Metaphyseal widening, Thi... |
OMIM:234100 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Arachnodactyly, Postaxial polydactyly, Tapered finger, Genu valgum, Clinodactyly of the 5th finge... |
OMIM:619721 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Pallor |
ORPHA:276608 |
| Opsismodysplasia |
|
Edema, Short neck, Polyhydramnios, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short ... |
OMIM:258480 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Hemivertebrae, Femoral bowing, Pectus carinatum, Foot oligodactyly, Aplasia/Hypoplasi... |
OMIM:276820 |
| Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, Anterior wedging of L... |
OMIM:253200 |
| Stormorken Syndrome |
|
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocyto... |
OMIM:185070 |
| Spherocytosis, Type 4 |
|
Hyperbilirubinemia |
OMIM:612653 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Pectus excavatum, Hand polydactyly, Foot polydactyly, Shor... |
OMIM:258860 |
| Knobloch Syndrome 1 |
|
Occipital meningocele, Occipital encephalocele, Spina bifida occulta |
OMIM:267750 |
| Familial Afibrinogenemia |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Gingival bleeding |
ORPHA:98880 |
| 20P13 Microdeletion Syndrome |
|
Finger syndactyly, Wide anterior fontanel, Polydactyly, Clinodactyly, Brachydactyly |
ORPHA:313781 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
| Distal Deletion 12Q |
|
Median cleft lip, Ectopic kidney, High, narrow palate, Supernumerary tooth, Esophageal atresia, P... |
ORPHA:96149 |
| Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ... |
ORPHA:1517 |
| Trisomy 8Q |
|
Camptodactyly of finger, Short neck, Myelomeningocele, Deep palmar crease, Long thorax, Brachydac... |
ORPHA:1752 |
| Renpenning Syndrome |
|
Macrodontia, Hypospadias, Pectus excavatum, High, narrow palate, Abnormal rib morphology, Cleft p... |
ORPHA:3242 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... |
OMIM:300106 |
| Myopathic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Hyperlordosis, Kyphosis, Pallor, Scoliosis |
ORPHA:536516 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hypoglycemia, H... |
ORPHA:3008 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... |
OMIM:268310 |
| Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Renal agenesis, Abnormal renal collecting system morphology, Missing ri... |
OMIM:134780 |
| Nephronophthisis 15 |
|
Polydactyly |
OMIM:614845 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Multicystic kidney dysplasia, Polyhydramnios, Missing ribs, Hydroc... |
ORPHA:3301 |
| Floating-Harbor Syndrome |
|
11 pairs of ribs, Hypospadias, Renal agenesis, Persistence of primary teeth, Celiac disease, Cari... |
ORPHA:2044 |
| Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Normocytic anemia, Epistaxis, Abnormality of neutrophils, Congestive... |
ORPHA:33226 |
| Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... |
ORPHA:822 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Death in infancy, Renal cyst, Increased circulating very long-chain fatty acid concentration, Hep... |
OMIM:614862 |
| Joubert Syndrome 1 |
|
Optic disc pallor, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem dysplas... |
OMIM:213300 |
| Joubert Syndrome 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Molar tooth ... |
OMIM:610688 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... |
OMIM:177850 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Multiple rib fractures, Short femur, Fractured radius, Polyhydramnios, Decreased fibular diameter... |
OMIM:616897 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
| Caroli Disease |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Esophageal varix, Polycystic kidney dy... |
ORPHA:53035 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... |
ORPHA:3258 |
| Joubert Syndrome 22 |
|
Molar tooth sign on MRI, Agenesis of cerebellar vermis |
OMIM:615665 |
| Congenital Sialidosis Type 2 |
|
Edema, Hydrocephalus, Polydactyly, Umbilical hernia, Ascites |
ORPHA:93400 |
| Slc35A2-Cdg |
|
Cerebellar atrophy, Abnormal midbrain morphology, Scoliosis, Atrophy/Degeneration affecting the b... |
ORPHA:356961 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Death in infancy, Renal insufficiency, Proteinuria, Conjugated hyperbilirubinemia, Pancreatic cys... |
OMIM:208500 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor |
ORPHA:324575 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Clinodactyly of the 5th finger, Polydactyly, Upper limb asymmetry |
ORPHA:231140 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
| Spontaneous Periodic Hypothermia |
|
Arrhythmia, Pallor |
ORPHA:29822 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
| Schaaf-Yang Syndrome |
|
Rocker bottom foot, Tapered finger, Kyphosis, Small hand, Narrow palm, Short foot, Scoliosis, Cam... |
OMIM:615547 |
| Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
| Meckel Syndrome, Type 1 |
|
Thin upper lip vermilion, Natal tooth, Hypoplasia of the bladder, Renal agenesis, Intestinal malr... |
OMIM:249000 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Cervical cord compression, Hypoplastic cervical vertebrae, Vertebral hypoplasi... |
ORPHA:79345 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Increased serum bile acid concentration, Hyperbilirubinemia |
OMIM:619685 |
| Neu-Laxova Syndrome |
|
Spina bifida, Lack of skin elasticity, Cerebellar hypoplasia, Scoliosis, Abnormal cerebellar verm... |
ORPHA:2671 |
| Melnick-Needles Syndrome |
|
Bowing of the long bones, Coxa valga, Short thorax, Hip dislocation, Abnormal rib morphology, Con... |
ORPHA:2484 |
| Isovaleric Acidemia |
|
Thrombocytopenia, Leukopenia, Cerebellar hemorrhage, Pancytopenia |
OMIM:243500 |
| Oculoauricular Syndrome |
|
Spina bifida occulta |
OMIM:612109 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Pallor |
ORPHA:90037 |
| 9Q21.13 Microdeletion Syndrome |
|
Hip dysplasia, Syringomyelia, Polydactyly, Vertebral segmentation defect, Scoliosis |
ORPHA:531151 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Short foot, Clinodactyly, Small hand, Scoliosis |
ORPHA:254531 |
| Propionic Acidemia |
|
Pancytopenia, Cerebellar hemorrhage, Anemia, Cardiomyopathy, Neutropenia, Thrombocytopenia |
OMIM:606054 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Short neck, Triangular shaped distal phalanges of the hand, Abnor... |
OMIM:271665 |
| 15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, High pa... |
DECIPHER:81 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:301083 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Split hand, Abnormal rib morphology, Oligohydramnios, Brachydactyly |
ORPHA:2145 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Failure to thrive |
OMIM:601847 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Idiopathic Pulmonary Hemosiderosis |
|
Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Iron deficiency anemia, Pallor |
ORPHA:99931 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia, Decreased body weight |
OMIM:614886 |
| Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Abnormal medulla oblongata morphology, Facial palsy, Abnormal midbrain morph... |
ORPHA:68 |
| Meacham Syndrome |
|
Death in infancy, Horseshoe kidney, Stillbirth, Death in childhood, Neonatal death, Enlarged kidney |
OMIM:608978 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... |
OMIM:277450 |
| Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Hypoplasia of the small intestine, Cystic renal dysplasia, Enlar... |
OMIM:200995 |
| Trisomy 13 |
|
Median cleft lip, Abnormality of the dentition, High, narrow palate, Abnormality of the ureter, A... |
ORPHA:3378 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Pallor |
OMIM:611590 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
| Pagod Syndrome |
|
Encephalocele, Sudden cardiac death, Spina bifida, Abnormality of the spleen, Meningocele, Optic ... |
ORPHA:991 |
| Pentalogy Of Cantrell |
|
Encephalocele, Abnormal tibia morphology, Split hand, Hydrocephalus, Anencephaly, Aplasia/Hypopla... |
ORPHA:1335 |
| Duplication Of The Pituitary Gland |
|
Encephalocele, Thoracic scoliosis, Abnormal odontoid process morphology, Abnormal midbrain morpho... |
ORPHA:314621 |
| Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Abnormality of the dentition, Pectus excavatum, Deep philtrum, Hy... |
OMIM:615398 |
| Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... |
OMIM:615994 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch... |
OMIM:250220 |
| Spherocytosis, Type 1 |
|
Hyperbilirubinemia |
OMIM:182900 |
| Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukoc... |
ORPHA:86839 |
| Aregenerative Anemia |
|
Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Pallor, Neutropenia, De... |
ORPHA:101096 |
| Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Cerebellar dysplasia, Dilated fourth ventricle, Elongated superior cerebellar peduncle, Abnormal ... |
ORPHA:370022 |
| Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Short thorax, Abnormal... |
ORPHA:582 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
| Spherocytosis, Type 2 |
|
Hyperbilirubinemia |
OMIM:616649 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... |
ORPHA:2234 |
| Bardet-Biedl Syndrome 19 |
|
Postaxial foot polydactyly, Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals |
OMIM:615996 |
| Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
| Diffuse Alveolar Hemorrhage |
|
Hematuria, Elevated circulating creatinine concentration, Proteinuria |
ORPHA:90060 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
| Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Pallor, Back pain |
ORPHA:56425 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Thrombocytopenia, Hydrocephalus, Patent ductus arteriosus, Heart murmur, Intracranial hemorrhage,... |
ORPHA:163979 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia |
ORPHA:713 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
ORPHA:234 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Thin upper lip vermilion, Renal agenesis, Thic... |
OMIM:220500 |
| Cyclic Vomiting Syndrome |
|
Cardiomyopathy, Pallor |
OMIM:500007 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia, Hiatus hernia |
OMIM:609727 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Failure to thrive |
OMIM:211600 |
| Hajdu-Cheney Syndrome |
|
Hypospadias, Intestinal malrotation, Dental malocclusion, Renal cyst, High palate, Polycystic kid... |
OMIM:102500 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... |
ORPHA:98849 |
| Lateral Meningocele Syndrome |
|
Vertebral fusion, Tethered cord, Short neck, Kyphosis, Patent ductus arteriosus, Hydrocephalus, M... |
OMIM:130720 |
| Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Short neck,... |
OMIM:305400 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Hypoplasia of first ribs, Foot oligodactyly... |
OMIM:154400 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Tented upper lip vermilion, Urinary incontinence, Short ... |
OMIM:618885 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
| Monosomy 9Q22.3 |
|
Short neck, Palmar pits, Pectus excavatum, Hydrocephalus, Kyphosis, Abnormal rib morphology, Abno... |
ORPHA:77301 |
| C Syndrome |
|
Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Micromelia, Postaxial hand ... |
OMIM:211750 |
| Joubert Syndrome 35 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia |
OMIM:618161 |
| Ogden Syndrome |
|
Thin upper lip vermilion, Everted upper lip vermilion, Global glomerulosclerosis, Abnormality of ... |
OMIM:300855 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... |
ORPHA:85167 |
| Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Clinodactyly, Hydrocephalus, Scoliosis |
ORPHA:2169 |
| Coach Syndrome 3 |
|
Molar tooth sign on MRI, Anemia |
OMIM:619113 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Elevated circulating creatinine concentration, Decreased urine output, Hyper... |
ORPHA:542323 |
| Aspergillosis |
|
Eosinophilia, Intracranial hemorrhage, Abnormality of the vertebral column, Stroke, Neutropenia |
ORPHA:1163 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
| 22Q11.2 Deletion Syndrome |
|
Aganglionic megacolon, Abnormal dental enamel morphology, Intestinal malrotation, Abnormality of ... |
ORPHA:567 |
| Helsmoortel-Van Der Aa Syndrome |
|
Thin upper lip vermilion, Recurrent urinary tract infections, Carious teeth, High, narrow palate,... |
OMIM:615873 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst |
OMIM:617478 |
| Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Abnormal rib morphology, Renal hypoplasia, Thin ribs, Thin vermilion b... |
ORPHA:3404 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, Tapered finger, Talipes equinovarus, Short palm, Clinodactyly |
ORPHA:85279 |
| Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Pierre-Robin sequence, Cleft palate, Anteriorly placed anus, Everte... |
OMIM:619980 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Death in infancy, Hypospadias, Glandular hypospadias, Thin ribs, High palate, Neonatal death, Mic... |
OMIM:300219 |
| Joubert Syndrome 40 |
|
Molar tooth sign on MRI |
OMIM:619582 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Hyperbilirubinemia |
OMIM:235700 |
| Osteogenesis Imperfecta, Type Xviii |
|
Bowing of the long bones, Thin ribs, Femoral bowing, Biconcave vertebral bodies, Umbilical hernia... |
OMIM:617952 |
| Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Micromelia, Short neck, Hypoplasia of the radius, Abnormality of th... |
ORPHA:3015 |
| Graft Versus Host Disease |
|
Fasciitis, Dupuytren contracture, Lipodystrophy, Hyperbilirubinemia, Failure to thrive |
ORPHA:39812 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Short foot, Acromicria, Small hand, Clinodactyly |
ORPHA:254525 |
| Joubert Syndrome 31 |
|
Molar tooth sign on MRI |
OMIM:617761 |
| Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Abnormal rib morphology, Hand polydac... |
ORPHA:2167 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal brainstem mo... |
ORPHA:163961 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... |
OMIM:130650 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia |
ORPHA:79302 |
| Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia |
OMIM:268150 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Cranial nerve compression, Palpitations, Pallor, P... |
ORPHA:276621 |
| Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Ulnar deviation of the hand, Kyphoscoliosis, Short foot, Hammertoe, Camptodactyly, Clinodactyly, ... |
OMIM:275900 |
| Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Short neck, Fused cervical vertebrae, Chiari malformation, Pallor, Neutro... |
OMIM:609053 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... |
OMIM:266200 |
| Alg9-Cdg |
|
Thin upper lip vermilion, Villous atrophy, Hypoplasia of the bladder, Hepatomegaly, Ureteral hypo... |
ORPHA:79328 |
| Joubert Syndrome 8 |
|
Molar tooth sign on MRI, Occipital encephalocele, Optic disc pallor |
OMIM:612291 |
| Menkes Disease |
|
Intracranial hemorrhage, Cutis laxa |
OMIM:309400 |
| Pseudoaminopterin Syndrome |
|
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... |
ORPHA:221120 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Failure to thrive, Hypocholesterolemia |
OMIM:607765 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormality of the kidney, Unilateral renal agenesis, Abnormal rib morphology, Cleft palate, Spre... |
OMIM:118100 |
| Hepatoportal Sclerosis |
|
Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:64743 |
| American Trypanosomiasis |
|
Aganglionic megacolon, Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Pallo... |
ORPHA:3386 |
| Syndromic Diarrhea |
|
Hepatomegaly, Villous atrophy, Gastritis, Splenomegaly, Renal hypoplasia, Colitis, Abnormality of... |
ORPHA:84064 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Tetralogy of Fallot, Facial cleft |
ORPHA:306542 |
| Grant Syndrome |
|
Open bite, Abnormal rib morphology, Narrow chest, Sprengel anomaly, Abnormality of the glenoid fo... |
ORPHA:2097 |
| Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Renal cyst, Post... |
OMIM:612284 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Sacral dimple, Spina bifida, Hyperlordosis, Intraventricular hemorrhage, Hydrocephalus, Kyphosis,... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Sacral dimple, Spina bifida, Hyperlordosis, Intraventricular hemorrhage, Hydrocephalus, Kyphosis,... |
ORPHA:363958 |
| Hellp Syndrome |
|
Back pain, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorr... |
ORPHA:244242 |
| 1P31P32 Microdeletion Syndrome |
|
Chiari type I malformation, Intraventricular hemorrhage, Tethered cord, Moyamoya phenomenon |
ORPHA:401986 |
| Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal... |
OMIM:613159 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Increased serum bile acid concentration, Small for gestational age, Hyperbilirubinemia |
ORPHA:69665 |
| Hemorrhagic Fever-Renal Syndrome |
|
Shock, Back pain, Tachycardia, Epistaxis, Hematemesis, Thrombocytopenia, Leukocytosis, Capillary ... |
ORPHA:340 |
| Williams Syndrome |
|
Hallux valgus, Sacral dimple, Down-sloping shoulders, Hyperlordosis, Pectus excavatum, Kyphosis, ... |
ORPHA:904 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Polydactyly, Hypoplastic ischia |
OMIM:616910 |
| Coffin-Siris Syndrome 6 |
|
Pectus excavatum, Clinodactyly, Kyphoscoliosis, Brachydactyly |
OMIM:617808 |
| Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cleft palate, Vesico... |
ORPHA:107 |
| Joubert Syndrome 3 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia |
OMIM:608629 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Cardiom... |
ORPHA:116 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Stroke-like episode, Right aortic arch, Hypertension... |
OMIM:300845 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Hydrocephalus, Midline brainstem cleft, Scoliosis |
OMIM:617542 |
| Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia |
OMIM:613280 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poiki... |
OMIM:616959 |
| Mckusick-Kaufman Syndrome |
|
Hydroureter, Aganglionic megacolon, Rectovaginal fistula, Polycystic kidney dysplasia, Vesicovagi... |
OMIM:236700 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Kyphoscoliosis, Talipes equinovarus, Scoliosis, Camptodactyly, Clinodactyly, Brachydactyly |
OMIM:616354 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... |
OMIM:605282 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Facial cleft, Scoliosis |
ORPHA:1236 |
| Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Peripheral arteriovenous fistula, Pulmonary... |
ORPHA:90308 |
| Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Hyperlordosis, Thoracic kyphosis, Short 5th finger, Scoliosis, Hypoplasia ... |
ORPHA:557003 |
| Noonan Syndrome 13 |
|
Overlapping toe, Tapered finger, Metatarsus adductus, Short neck, Lymphedema, Enlarged thorax, Bi... |
OMIM:619087 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
11 pairs of ribs, Death in infancy, Long clavicles, Shoulder flexion contracture, Renal hypoplasi... |
OMIM:210710 |
| Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Aganglionic megacolon, Spina bifida, Hydrocephalus, P... |
ORPHA:84 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
| Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia |
ORPHA:35125 |
| Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
| Joubert Syndrome 33 |
|
Molar tooth sign on MRI |
OMIM:617767 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Tethered cord, Spina bifida, Tapered finger, Cyst of the ductus choledochus, Scoliosis |
OMIM:619480 |
| Holoprosencephaly |
|
Encephalocele, Short neck, Abnormality of the spleen, Hydrocephalus, Optic atrophy, Spinal cord t... |
ORPHA:2162 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Peau d'orange, Hip dysplasia, Hydrocephalus, Postaxial polydactyly |
OMIM:614576 |
| Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... |
ORPHA:85451 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
| Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
| Waardenburg Syndrome, Type 3 |
|
Scapular winging, Camptodactyly of finger, Cutaneous finger syndactyly, Carpal synostosis, Clinod... |
OMIM:148820 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Chronic lymphat... |
ORPHA:90033 |
| 3P25.3 Microdeletion Syndrome |
|
Sacral dimple, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postax... |
ORPHA:435638 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:2643 |
| 3Mc Syndrome 3 |
|
Sacral dimple, Facial cleft |
OMIM:248340 |
| Holoprosencephaly 1 |
|
Cerebellar hypoplasia, Ethmocephaly, Facial cleft, Alobar holoprosencephaly |
OMIM:236100 |
| Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
| Joubert Syndrome 28 |
|
Molar tooth sign on MRI, Optic disc pallor |
OMIM:617121 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Femoral bowing, Narrow chest, Abnormality of the wrist, Elbow ankylosis, Abnormal vertebral morph... |
ORPHA:95699 |
| Fraser Syndrome 1 |
|
Encephalocele, Myelomeningocele, Facial cleft, Hydrocephalus |
OMIM:219000 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Down-sloping shoulders, Kyphoscoliosis, Deviation of the 5th toe, Pectus excavatum, Short neck, S... |
ORPHA:391408 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Pallor, Poikilocytosis, Fava bean-indu... |
OMIM:300908 |
| Sepsis In Premature Infants |
|
Abnormal bleeding, Tachycardia, Thrombocytopenia, Leukocytosis, Splenomegaly, Anemia, Bradycardia... |
ORPHA:90051 |
| Ravine Syndrome |
|
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Hyperbilirubinemia, Weight loss |
OMIM:613673 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Overlapping toe, Single transverse palmar crease, Polyhydramnios, Pectus excavatum, Lar... |
ORPHA:254528 |
| Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Deep philtrum, Non-midline cleft lip, Orofacial cle... |
ORPHA:1297 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hyperbilirubinemia |
OMIM:616689 |
| Caroli Syndrome |
|
Hepatomegaly, Abnormality of the kidney, Conjugated hyperbilirubinemia, Esophageal varix, Polycys... |
ORPHA:480520 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Renal cyst, Pectus carinatum, Exaggerated median tongue furrow, Hepatomegaly, Hypospadias, Gingiv... |
OMIM:312870 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Optic disc pallor, Reticulocytosis, Facial palsy, Splenomegaly, Thrombocytopenia, Optic atrophy, ... |
OMIM:611490 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90036 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Intestinal perforation, Rectal prolapse, Elevated circulating creatinine co... |
ORPHA:90038 |
| Bartsocas-Papas Syndrome 1 |
|
Dry skin, Facial cleft, Short neck |
OMIM:263650 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pa... |
ORPHA:300298 |
| Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Abnormality of the bl... |
ORPHA:29073 |
| Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Renal cyst |
OMIM:617100 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Failure to thrive, Hyperbilirubinemia |
OMIM:613812 |
| Pontocerebellar Hypoplasia Type 10 |
|
Optic atrophy, Abnormal brainstem morphology |
ORPHA:411493 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Irregular ver... |
OMIM:271640 |
| Joubert Syndrome 37 |
|
Molar tooth sign on MRI, Lumbar hyperlordosis, Cerebellar vermis hypoplasia |
OMIM:619185 |
| Au-Kline Syndrome |
|
Sacral dimple, Overlapping toe, Thoracolumbar scoliosis, Postaxial polydactyly, Coxa valga, Pectu... |
OMIM:616580 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Chronic kidney disease, ... |
ORPHA:447 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
| Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Dental malocclusion, Abnormal shoulder morphology, Hig... |
ORPHA:2115 |
| Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Cerebral ischemia, Arteritis... |
ORPHA:494424 |
| Cerebellar-Facial-Dental Syndrome |
|
Abnormal midbrain morphology, Short neck, Hypoplasia of the pons, Ascending tubular aorta aneurys... |
ORPHA:444072 |
| Mucopolysaccharidosis, Type X |
|
Spatulate ribs, Broad clavicles, Hyperlordosis, Genu valgum, Hip dysplasia, Broad ribs, Posterior... |
OMIM:619698 |
| Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... |
OMIM:605714 |
| Pallister-Hall Syndrome |
|
Renal dysplasia, Natal tooth, Hydroureter, Distal urethral duplication, Cleft upper lip, Ectopic ... |
OMIM:146510 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Conjugated hyperbilirubinemia, Arthrogryposis multiplex congenita, Failure to thrive, Small for g... |
OMIM:208085 |
| Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Anterior ... |
OMIM:211350 |
| Arnold-Chiari Malformation Type I |
|
Myelopathy, Cranial nerve compression, Abnormality of the vestibulocochlear nerve, Abnormality of... |
ORPHA:268882 |
| Adult Krabbe Disease |
|
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology |
ORPHA:206448 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Arachnodactyly, Metatarsus adductus, Lateral clavicle hook, Metaphyseal widening, Hydrocephalus, ... |
OMIM:182212 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary embolism, Megaloblastic anemia, Atrophy of the spinal cord, Hydrocephalus, Dilated card... |
ORPHA:79282 |
| Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly, Hand oligodactyly |
OMIM:207770 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology |
ORPHA:255182 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Brachydactyly, Sacral dimple, Kyphoscoliosis, Partial duplication of thumb phalanx, Partial dupli... |
OMIM:616331 |
| Opitz-Kaveggia Syndrome |
|
Syndactyly, Sacral dimple, Lumbar hyperlordosis, Broad hallux, Single transverse palmar crease, S... |
OMIM:305450 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Abnormality of the hand, Short neck, Camptodactyly, Umbilical hernia, Clinodactyly |
ORPHA:369891 |
| Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:403 |
| Fryns Syndrome |
|
Multicystic kidney dysplasia, Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon... |
ORPHA:2059 |
| Joubert Syndrome 27 |
|
Molar tooth sign on MRI |
OMIM:617120 |
| Dysosteosclerosis |
|
Clavicular sclerosis, Sclerotic scapulae, Increased intervertebral space, Flared metaphysis, Abno... |
OMIM:224300 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Postaxial polydactyly, Pectus excavatum, Hydrocephalus, Hip dysplasia, Scoliosis, C... |
ORPHA:457284 |
| Rheumatic Fever |
|
Pericarditis, Epistaxis, Myocarditis, Erythema, Pallor, Arrhythmia |
ORPHA:3099 |
| Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Hydronephrosis, Cleft palate, Thin ribs |
OMIM:618265 |
| Mend Syndrome |
|
Sacral dimple, Overlapping toe, Broad hallux, Long fingers, Hydrocephalus, Kyphosis, 2-3 toe synd... |
OMIM:300960 |
| Hurler Syndrome |
|
Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Hydrocephalus, Abnormality of ... |
ORPHA:93473 |
| Alg3-Cdg |
|
Hypoplasia of the pons, Coarctation of the descending aortic arch, Neural tube defect, Cardiomyop... |
ORPHA:79321 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Leukopenia, Ecchymosis, Internal hemorrh... |
ORPHA:99827 |
| Roberts Syndrome |
|
Cleft upper lip, Long penis, Cleft palate, High palate, Polycystic kidney dysplasia |
ORPHA:3103 |
| Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Rectal prolapse, Long penis, Hypercalciuria, Megarectum, Nephroca... |
ORPHA:508 |
| X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Glandular hypospadias, Thin ribs, High palate, Micropenis, Penile hypospadias, Penoscrotal hyposp... |
ORPHA:456328 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology |
ORPHA:1506 |
| Lateral Meningocele Syndrome |
|
Short neck, Hyperlordosis, Kyphosis, Meningocele, Abnormal form of the vertebral bodies, Dural ec... |
ORPHA:2789 |
| Laurence-Moon Syndrome |
|
Polydactyly, Abnormality of the hand |
OMIM:245800 |
| Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hyperbilirubinemia |
OMIM:611881 |
| Von Hippel-Lindau Disease |
|
Back pain, Papilledema, Myocardial infarction, Myocarditis, Abnormal left ventricular function, C... |
ORPHA:892 |
| Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Rhizomelia, Beaded ribs, Sho... |
OMIM:616229 |
| Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... |
ORPHA:805 |
| Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:404 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brain... |
OMIM:619306 |
| Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Kyphosis, Optic atrophy, Intracranial hemorrhage... |
ORPHA:394 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Cardiomyopathy, Leukopenia, Neutropenia, Thrombocytopenia |
OMIM:251000 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... |
OMIM:620300 |
| Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
| Oculodentodigital Dysplasia |
|
Finger syndactyly, Abnormal clavicle morphology, Toe syndactyly, Camptodactyly of finger, Short h... |
ORPHA:2710 |
| Fructose Intolerance, Hereditary |
|
Hypoglycemia, Bicarbonaturia, Glycosuria, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Fa... |
OMIM:229600 |
| Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Hyperintensity of MRI T2 signal of the spinal cord, Ab... |
ORPHA:79139 |
| Vascular Hyalinosis |
|
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage |
OMIM:277175 |
| Osteogenesis Imperfecta |
|
Cervical kyphosis, Abnormal form of the vertebral bodies, Brain stem compression, Enlarged verteb... |
ORPHA:666 |
| Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage |
ORPHA:251274 |
| Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Split hand, Short long bo... |
OMIM:252600 |
| Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Long thorax, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Postaxial polydactyly, Preaxial polydactyly, Bilateral talipes equinovarus, Over... |
OMIM:618142 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Clinodactyly, Radial deviation of finger |
OMIM:188025 |
| Tarp Syndrome |
|
Cerebellar vermis hypoplasia, Optic atrophy, Subdural hemorrhage, Cerebellar hypoplasia, Neonatal... |
OMIM:311900 |
| Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Transient ischemic attack, Eosinophilia, Supraventricular arrhythmia, Pulmonary emb... |
ORPHA:3260 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
| Thrombocytopenia 5 |
|
Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula... |
OMIM:616216 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Sandal gap, Tapered finger, Small hand, Short foot, Clinodactyly |
OMIM:618089 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased circulating ferritin concentration, Increased total bilirubin, Neonatal hyperbilirubine... |
ORPHA:3202 |
| Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
| Spinocerebellar Ataxia 47 |
|
Clinodactyly, Small hand, Tapered finger |
OMIM:617931 |
| Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies |
|
Hallux valgus, Swan neck-like deformities of the fingers, Ulnar deviated club hands, Clinodactyly... |
OMIM:619880 |
| Ruijs-Aalfs Syndrome |
|
Thoracic kyphoscoliosis, Down-sloping shoulders, Single transverse palmar crease, Pectus excavatu... |
OMIM:616200 |
| Clark-Baraitser Syndrome |
|
Clinodactyly, Sandal gap |
OMIM:617752 |
| Cornelia De Lange Syndrome 1 |
|
Ectopic kidney, High, narrow palate, Renal cyst, Downturned corners of mouth, Widely spaced teeth... |
OMIM:122470 |
| Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Cranial nerve compression, Palpitations, Pallor, P... |
ORPHA:29072 |
| Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Increased density of long bone diaphyses, Wrist flexion contracture, Disl... |
OMIM:305620 |
| Myelofibrosis |
|
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura |
OMIM:254450 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary... |
ORPHA:369929 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr... |
ORPHA:99901 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Glomerular sclerosis, Nephropathy, Elevated circulating creatinine concentration, Proteinuria |
ORPHA:247691 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Decreased proportion of CD4-positive ... |
OMIM:243700 |
| Bent Bone Dysplasia Syndrome 2 |
|
Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing, Thin ribs, ... |
OMIM:620076 |
| Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hypouricemia, Hypoalbuminemia, High noncerulop... |
OMIM:277900 |
| Intellectual Developmental Disorder, X-Linked 106 |
|
Clinodactyly of the 5th finger, Clinodactyly |
OMIM:300997 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Metaphyseal widening, Abnormal thorax morphology, Abnormal form of the vertebral bodies, Triangul... |
ORPHA:73230 |
| Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Short neck, Hydrops fetalis, Camptodactyly of toe, Dislocated radial head, Syndactyly, Arachnodac... |
OMIM:265000 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Small for gestational age, Hyperbilirubinemia |
OMIM:224120 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Optic nerve compression, Splenomegaly, Pulmonary artery stenosis, Hydr... |
ORPHA:667 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Telangiectasia of the skin, Abnormal brainstem morphology, Telangiectasia, Aplasia/Hypoplasia of ... |
ORPHA:79279 |
| Hypophosphatasia |
|
Narrow chest, Abnormal rib morphology, Hypercalcemia, Abnormality of the dentition |
ORPHA:436 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor, Anemia |
OMIM:246450 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Subdural hemorrhage, Retinal hemorrhage |
ORPHA:25 |
| Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
| Xylt1-Cdg |
|
Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Short clavicles, Broad ribs, ... |
ORPHA:370930 |
| Fryns Syndrome |
|
Ureteral duplication, Tented upper lip vermilion, Aganglionic megacolon, Intestinal malrotation, ... |
OMIM:229850 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 12 |
|
Clinodactyly, Scoliosis |
OMIM:620316 |
| Bardet-Biedl Syndrome 8 |
|
Postaxial polydactyly |
OMIM:615985 |
| Osteogenesis Imperfecta, Type X |
|
Multiple rib fractures, Bowing of the long bones, Short femur, Rhizomelia, Thoracic scoliosis, Mi... |
OMIM:613848 |
| Congenital Disorder Of Glycosylation, Type Id |
|
Long fingers, Talipes equinovarus, Clinodactyly, Joint contracture of the hand, Clinodactyly of t... |
OMIM:601110 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased red... |
OMIM:194380 |
| Overhydrated Hereditary Stomatocytosis |
|
Hyperbilirubinemia |
OMIM:185000 |
| Hereditary Elliptocytosis |
|
Neonatal hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:288 |
| Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Short neck, Hydrops fetalis, Oligohydramnios, Femoral bowing, Short long bone... |
OMIM:617022 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Arachnodactyly, Long palm, Camptodactyly of finger, Tapered finger, Metatarsus... |
ORPHA:2215 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... |
ORPHA:331206 |
| Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Neuropathic spinal arthropathy, Palpebral edema, Kyphoscoliosis, Pectus carinatum, Talipes equino... |
ORPHA:397709 |
| Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
| Suleiman-El-Hattab Syndrome |
|
Clinodactyly, Polydactyly, Single transverse palmar crease, Brachydactyly |
OMIM:618950 |
| Lethal Congenital Contracture Syndrome 5 |
|
Decreased nerve conduction velocity, Subdural hemorrhage, Retinal hemorrhage |
OMIM:615368 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Scapular winging, Down-sloping shoulders, Carious teeth, Dental malocclusion, Renal cyst |
OMIM:615560 |
| Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Sacral dimple, Overlapping toe, Postaxial polydactyly, Tapered finger |
OMIM:613792 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Intraventricular hemorrhage, Hydrocephalus, Aganglionic megacolon, Sacral dimple |
OMIM:613603 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... |
ORPHA:480536 |
| Noonan Syndrome 14 |
|
Scapular winging, Polyhydramnios, Short neck, Pectus excavatum, Kyphosis, Pectus carinatum, Deep ... |
OMIM:619745 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Peptic ulcer, Hypercalcemia, Parathormone-independent increased renal tubula... |
OMIM:600740 |
| Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
| Oslam Syndrome |
|
Clinodactyly, Radioulnar synostosis, Radial deviation of finger |
OMIM:165660 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
| Distal Xq28 Microduplication Syndrome |
|
Neonatal hyperbilirubinemia |
ORPHA:293939 |
| Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Abnormal tibia morpholo... |
ORPHA:2879 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hallux valgus, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Single transverse palmar crease, Pe... |
OMIM:613385 |
| Rh Deficiency Syndrome |
|
Reduced haptoglobin level, Hyperbilirubinemia |
ORPHA:71275 |
| Rhabdoid Tumor |
|
Hypertension, Thrombocytopenia, Internal hemorrhage, Anemia |
ORPHA:69077 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, P... |
ORPHA:93111 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Hand monodact... |
OMIM:609945 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Umbilical hernia, Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90673 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Clinodactyly, Single transverse palmar crease, Brachydactyly, Camptodactyly |
OMIM:613604 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Radial artery aplasia, Pure red cell aplasia, Short neck, Erythroid hypop... |
ORPHA:124 |
| Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... |
ORPHA:14 |
| Incontinentia Pigmenti |
|
Delayed eruption of teeth, Eosinophilia, Kyphoscoliosis, Leukocytosis, Erythema, Optic atrophy, R... |
OMIM:308300 |
| Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
| Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Hallux valgus, Long hallux, Pectus carinatum, Clinodactyly, Broad thumb |
OMIM:620194 |
| Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
| Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Hyperbilirubinemia |
OMIM:606812 |
| Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Femoral bowing, Ca... |
OMIM:600920 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hyperlordosis, Abnormal rib morphology, Pectus carinatum, Abnormal hip bone morphology, Clinodact... |
ORPHA:3068 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Hip contracture, Brachydactyly, Overlapping toe, Rocker bottom foot, Kyphoscoliosis, Tapered fing... |
ORPHA:488642 |
| Cystic Echinococcosis |
|
Hyperbilirubinemia, Weight loss |
ORPHA:400 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin level, Umbilical hernia, Hypercholesterolemia, Failure to thri... |
ORPHA:90674 |
| Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Elliptocytosis, Pallor |
OMIM:611804 |
| Fanconi Anemia, Complementation Group R |
|
Tethered cord, Hydrocephalus, Chiari type I malformation, Scoliosis, Anemia |
OMIM:617244 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Coxa valga, Short tubular bones of the hand, Wide anterior fontanel, Vertebral arch anomaly, Abno... |
ORPHA:85184 |
| Bacterial Toxic-Shock Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating creatine kinase con... |
ORPHA:36234 |
| Letterer-Siwe Disease |
|
Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia |
OMIM:246400 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney |
ORPHA:276280 |
| Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Optic atrophy, Abnormal brai... |
ORPHA:98755 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Polyhydramnios, Large placenta, Coat hanger sign of ribs, Umbilical hernia, Thoracic hypoplasia |
ORPHA:254534 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Thrombocytopenia |
ORPHA:90045 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage, Hydrocephalus, Optic nerve compression |
ORPHA:91350 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Kyphosis, Abnormal spinal cord morphology, Spinal canal... |
ORPHA:1724 |
| Pyknoachondrogenesis |
|
Palpebral edema, Micromelia, Short iliac bones, Horizontal ribs, Short thorax, Abnormal iliac win... |
ORPHA:3003 |
| Pitt-Hopkins Syndrome |
|
Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease... |
OMIM:610954 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Anemic pallor, Thrombocytopenia, Patent ductus arteriosus, Hydrocephalus, Reticuloc... |
OMIM:227646 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave |
ORPHA:231625 |
| Schwartz-Jampel Syndrome |
|
Micromelia, Short neck, Polyhydramnios, Coxa vara, Pectus carinatum, Wrist flexion contracture, A... |
ORPHA:800 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Hypoplasia of the pons, Cerebellar atrophy, Abnormal brainstem morphology |
ORPHA:300573 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration |
OMIM:614887 |
| Peutz-Jeghers Syndrome |
|
Intestinal obstruction, Esophageal neoplasm, Enlarged polycystic ovaries, Rectal prolapse, Abnorm... |
ORPHA:2869 |
| Pearson Marrow-Pancreas Syndrome |
|
Type I diabetes mellitus, Failure to thrive, Small for gestational age, Hyperbilirubinemia |
OMIM:557000 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Tented upper lip vermilion, Hypertriglyceridemia, Hypercalcemia, Exaggerated cupid's bow, Pectus ... |
ORPHA:369837 |
| Retinitis Pigmentosa 89 |
|
Postaxial polydactyly |
OMIM:618955 |
| 19P13.3 Microduplication Syndrome |
|
Kyphoscoliosis, Long fingers, Hip dislocation, Hip dysplasia, Clinodactyly, Hip subluxation |
ORPHA:447980 |
| Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Dental crowding, Hypoammonemia, Deep philtrum, Gingivitis, Oligosacchariduria, Nephrocalcinosis, ... |
ORPHA:534 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi... |
ORPHA:93317 |
| Mosaic Trisomy 1 |
|
Thoracic scoliosis, Thick lower lip vermilion, Cleft palate, Orofacial cleft, Short upper lip, Wi... |
ORPHA:1692 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Thin vermilion border, High palate, Bilateral cleft lip and palate |
OMIM:618829 |
| Mosaic Trisomy 16 |
|
Syndactyly, Single transverse palmar crease, Short thumb, Large placenta, Abnormal thorax morphol... |
ORPHA:1708 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial polydactyly, Kyphosis, 2-3 toe syndactyly, Postaxial foot polydactyly, Broad distal pha... |
ORPHA:404440 |
| Al Kaissi Syndrome |
|
Sacral dimple, Hemivertebrae, Small hand, Deep palmar crease, Clinodactyly |
OMIM:617694 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Cardiac arrest, Leukocytosis, Dilated cardiomyopathy, Leukopenia, Prolonged prothrombin time, Pal... |
ORPHA:20 |
| Kleefstra Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Tented upper lip vermilion, Exaggerated cupid's b... |
ORPHA:261494 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Postaxial polydactyly |
ORPHA:544254 |
| Sandestig-Stefanova Syndrome |
|
Rocker bottom foot, Short neck, Camptodactyly, Clinodactyly, Bilateral single transverse palmar c... |
OMIM:618804 |
| Septooptic Dysplasia |
|
Polydactyly, Short finger |
OMIM:182230 |
| Insulin-Like Growth Factor I, Resistance To |
|
Sandal gap, Pectus excavatum, Small hand, Short foot, Abnormal rib cage morphology, Radial deviat... |
OMIM:270450 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Sp... |
ORPHA:565 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of neutrophils, Hydrocephalus, Abnormal brainstem morphology, Hypochromic anemia, Apl... |
ORPHA:2720 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Absent mesencephalon, Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia |
OMIM:601374 |
| Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia |
ORPHA:54028 |
| Antley-Bixler Syndrome |
|
Narrow mouth, Abnormal renal morphology, Abnormal rib morphology, Cleft palate, Narrow chest, Lon... |
ORPHA:83 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Thin upper lip vermilion, Villous atrophy, Death in infancy, Proteinuria, Hepatomegaly, Renal cys... |
OMIM:212065 |
| Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Short foot, Clinodactyly, Small hand, Scoliosis |
ORPHA:96184 |
| Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Pect... |
OMIM:225500 |
| Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Orofacial cleft, Pectus carinatum, Downturned co... |
ORPHA:1507 |
| Familial Cerebral Cavernous Malformation |
|
Cerebral hemorrhage, Focal T2 hyperintense brainstem lesion, Focal T2 hypointense brainstem lesio... |
ORPHA:221061 |
| Dpagt1-Cdg |
|
Prolonged QT interval, Abnormal cerebellum morphology, Optic atrophy, Stroke-like episode, Intrac... |
ORPHA:86309 |
| Osteogenesis Imperfecta, Type Xvii |
|
Kyphoscoliosis, Intraventricular hemorrhage, Platyspondyly, Syringomyelia, Vertebral compression ... |
OMIM:616507 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Hypoplasia of the pons, Intraventricular hemorrhage, Cerebellar atrophy |
OMIM:616430 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Angina pectoris, Telangiectasia, Intracranial hemorrhage, Arteriovenous malformation, Scoliosis, ... |
ORPHA:109 |
| Meningioma |
|
Back pain, Papilledema, Facial palsy, Cerebral hemorrhage, Abnormal cerebellum morphology, Hydroc... |
ORPHA:2495 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Glossoptosis, Multicystic kidney dysplasia, Renal cyst |
ORPHA:2031 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Clinodactyly, Talipes equinovarus, Short neck |
OMIM:616789 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Short neck, Lateral clavicle hook, Wide anterior fontanel, Preaxial polyda... |
OMIM:617925 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Renal cyst, Widely spaced teeth, High palate, Nephronophthisis, Narrow ches... |
OMIM:266920 |
| Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, Short ... |
OMIM:208150 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Proximal placement of thumb, Short neck, Wide anterior fontanel, Narrow chest, Short ... |
OMIM:217980 |
| Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Non-midline cleft lip, Cleft palate, Downturned corner... |
ORPHA:2075 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Enlarged kidney, Cardiomegaly |
OMIM:261740 |
| Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Clinodactyly |
ORPHA:357175 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Congenital kyphoscoliosis, Cerebral hemorrhage, Kyphoscoliosis, Atlantoaxial instability, Subdura... |
ORPHA:536545 |
| Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Wide anterior fontane... |
OMIM:610915 |
| Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Tachycardia, Internal hemorrhage, Splenic rupture, Prolonged prothrombin time,... |
ORPHA:335 |
| Ring Chromosome 12 Syndrome |
|
Syndactyly, Lumbar hyperlordosis, Pectus excavatum, Abnormal 5th finger morphology, Symphalangism... |
ORPHA:1439 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Renal cyst, Cleft palate, Micropenis, ... |
OMIM:257300 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Edema, Long fingers, ... |
OMIM:617527 |
| Curry-Jones Syndrome |
|
Duplication of thumb phalanx, Preaxial hand polydactyly, Lipomyelomeningocele, 2-3 finger syndact... |
OMIM:601707 |
| Cockayne Syndrome Type 3 |
|
Optic disc pallor, Splenomegaly, Kyphosis, Dense calcifications in the cerebellar dentate nucleus... |
ORPHA:90324 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, Coxa valga, Tapered finger, Kyphosis, Hemivertebrae, Talipes equinovarus, Radial ... |
OMIM:301040 |
| Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib morphology, Bifid femu... |
ORPHA:2769 |
| Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Glomeru... |
OMIM:233450 |
| Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
| Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Hypoplasia of the ulna, Clinodactyly |
OMIM:615162 |
| Triploidy |
|
Hydrocephalus, Meningocele, Holoprosencephaly, Short neck |
ORPHA:3376 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic ath... |
ORPHA:363618 |
| Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Renal insufficiency, Horizontal ribs, Pectus excavatum, Splenomegaly, Cleft palate,... |
OMIM:613610 |
| 19P13.13 Microdeletion Syndrome |
|
Sandal gap, Pectus excavatum, Long fingers, Increased nuchal translucency, Syringomyelia, Clinoda... |
ORPHA:357001 |
| Zellweger Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Hepatomegaly, Hypospadias, Malabsorption, Pyloric... |
ORPHA:912 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Pallor |
ORPHA:263455 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Prominent fingertip pads, Clinodactyly, Single transverse palmar crease |
ORPHA:391372 |
| Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Anemic pallor, Reticulocytopenia, Anterior wedging of T12, Anemia, Neutropenia, Leu... |
OMIM:227645 |
| Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration |
ORPHA:79126 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Overlapping toe, Single transverse palmar crease, Kyphosis, Deviation of the 2... |
ORPHA:464738 |
| Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Natal tooth, Cerebellar vermis hypoplasia, Patent ductus arteriosus, Opt... |
OMIM:615948 |
| Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Spondylolisthesis, Abdominal aortic aneurysm, Arterial tortuosity, Pa... |
OMIM:613795 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Abnormal bleeding, Anemia, Anemic pallor, Hematochezia |
ORPHA:329971 |
| Tubulinopathy-Associated Dysgyria |
|
Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnormal brainstem morphology |
ORPHA:467166 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial polydactyly |
OMIM:605627 |
| Joubert Syndrome 5 |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar verm... |
OMIM:610188 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Cerebellar atrophy, Hemolytic anemia, Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Reti... |
OMIM:175780 |
| Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Renal hypoplasia/aplasia... |
ORPHA:2473 |
| Van Maldergem Syndrome 1 |
|
Short fourth metatarsal, Sacral dimple, Wide anterior fontanel, Cutaneous finger syndactyly, Tali... |
OMIM:601390 |
| W Syndrome |
|
Hypoplasia of the ulna, Radial bowing, Elbow dislocation, Metatarsus adductus, Camptodactyly, Cub... |
ORPHA:2804 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Renal agenesis, Cardiomegaly, Posteriorly placed anus, Horseshoe kidney, Enlarged k... |
OMIM:306955 |
| Atelosteogenesis Type I |
|
Malrotation of colon, Cleft palate, Multiple renal cysts, Narrow chest, Thoracic hypoplasia |
ORPHA:1190 |
| Beta-Ketothiolase Deficiency |
|
Leukocytosis, Hypertension, Pallor, Hypotension, Thrombocytosis |
ORPHA:134 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Abnormal rib morphology, Abnormal form of the vertebral b... |
ORPHA:93941 |
| Mosaic Trisomy 8 |
|
Camptodactyly of finger, Short neck, Patellar aplasia, Abnormal rib morphology, Narrow pelvis bon... |
ORPHA:96061 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Periorbital edema, Clinodactyly, Brachydactyly |
OMIM:618048 |
| Takenouchi-Kosaki Syndrome |
|
Overlapping toe, Proximal placement of thumb, Tapered finger, Lymphedema, Abnormal sternum morpho... |
OMIM:616737 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplasia of penis, Abnormal rib morphology |
ORPHA:2772 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
| Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
| Kinsship Syndrome |
|
Sacral dimple, Single transverse palmar crease, Coxa valga, Short neck, Hip dislocation, Fibular ... |
OMIM:619297 |
| You-Hoover-Fong Syndrome |
|
Pectus excavatum, Clinodactyly, Kyphoscoliosis, Brachydactyly |
OMIM:616954 |
| Van Maldergem Syndrome 2 |
|
Short fourth metatarsal, Ulnar deviation of the hand, Sacral dimple, Wide anterior fontanel, Cuta... |
OMIM:615546 |
| Senior-Loken Syndrome 9 |
|
Polydactyly, Hypoplasia of the femoral head |
OMIM:616629 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hyperbilirubinemia |
OMIM:259720 |
| Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Inguinal hernia, Small for gestational age, Hypoglycemia, Hypoalbuminemia, Hypocalcemia, Unconjug... |
OMIM:613658 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst |
ORPHA:445038 |
| Autoimmune Hepatitis |
|
Increased total bilirubin |
ORPHA:2137 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Bruising susceptib... |
OMIM:600901 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Arachnodactyly, Pectus excavatum, Kyphosis, Renal cyst, Polydactyl... |
ORPHA:464306 |
| Adenohypophysitis |
|
Orthostatic hypotension, Pallor, Normochromic anemia |
ORPHA:95512 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Short metacarpal, Brachydactyly, Rhizomelia, Hypoplastic sacrum, Short metatarsal, Small hand, Co... |
OMIM:614813 |
| Sheehan Syndrome |
|
Orthostatic hypotension, Normochromic anemia, Palpitations, Pallor, Bradycardia, Dry skin |
ORPHA:91355 |
| Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Short neck, Polyhydramnios, Abnormal form of the vertebral bodies, H... |
ORPHA:818 |
| Simpson-Golabi-Behmel Syndrome |
|
Finger syndactyly, Vertebral fusion, Congenital hip dislocation, Toe syndactyly, Camptodactyly of... |
ORPHA:373 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Broad hallux, Sandal gap, Mesomelia, Camptodactyly, Prominent fingertip pads, Clinodactyly, Broad... |
OMIM:618529 |
| Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Clinodactyly, Scoliosis, Camptodactyly, Tapered finger |
OMIM:619576 |
| Dextrocardia |
|
Hydrocephalus, Congenital hip dislocation, Abnormal rib morphology |
ORPHA:1666 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
| Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Sacral dimple, Fetal intraventricular hemorrhage |
OMIM:618480 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Optic atrophy, Hypoplasia of the brainstem, Pallor, Cerebellar hypoplasia, Cerebel... |
OMIM:253280 |
| Isolated Arrhinia |
|
Facial cleft |
ORPHA:1134 |
| Loeys-Dietz Syndrome 2 |
|
Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Pectus excavatum, Hydroce... |
OMIM:610168 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Umbilical hernia, Increased circulating thyroglobulin level, Hyperbilirubinemia |
OMIM:218700 |
| Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... |
OMIM:614527 |
| Parenteral Nutrition-Associated Cholestasis |
|
Conjugated hyperbilirubinemia, Hyperlipidemia, Small for gestational age, Abnormal circulating fa... |
ORPHA:567983 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Fetal megacystis, Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Long philtrum |
ORPHA:73246 |
| Thoracic Outlet Syndrome |
|
Abnormal rib morphology, Edema |
ORPHA:97330 |
| Lathosterolosis |
|
Abnormal thoracic spine morphology, Meningocele, Anisopoikilocytosis, Abnormal platelet morpholog... |
ORPHA:46059 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Pyloric stenosis, Multicystic kidney dysplasia, Rib fusion, Cleft palate |
ORPHA:261197 |
| Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Median cleft lip, Renal insufficiency, Abnormal dental enamel morph... |
ORPHA:2750 |
| Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
| Panhypophysitis |
|
Orthostatic hypotension, Pallor, Normochromic anemia |
ORPHA:95513 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Bruising susceptib... |
OMIM:227650 |
| Transketolase Deficiency |
|
Hepatomegaly, Increased level of ribose in urine, Renal cyst, Elevated circulating ribitol concen... |
ORPHA:488618 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Polyhydramnios, Postaxial hand polydactyly, Aplasia of the epiglottis, Con... |
OMIM:617088 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Postaxial polydactyly, Oligohydramnios |
OMIM:615824 |
| D-Bifunctional Protein Deficiency |
|
Hepatomegaly, Pectus excavatum, Splenomegaly, Renal cyst, High palate, Increased circulating very... |
OMIM:261515 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Thin upper lip vermilion, Cleft lip, Renal hypoplasia, Cleft palate, Renal cyst, Wide mouth, Shor... |
OMIM:618454 |
| Pituitary Apoplexy |
|
Hypertension, Normochromic anemia, Pallor, Hypotension |
ORPHA:95613 |
| Braddock-Carey Syndrome 2 |
|
Clinodactyly |
OMIM:619981 |
| Cardiogenic Shock |
|
Elevated circulating creatinine concentration, Oliguria |
ORPHA:97292 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro... |
ORPHA:2519 |
| Congenital Myopathy 17 |
|
Overlapping toe, Polyhydramnios, Tapered finger, Pectus excavatum, Narrow chest, Hand clenching, ... |
OMIM:618975 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Neonatal death, Intraventricular hemorrhage, Prolonged prothrombin time, Scoliosis |
OMIM:619055 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Short neck, Pectus excavatum, Shortening of all distal phalanges of the fingers, Hip dysplasia, S... |
ORPHA:247262 |
| X-Linked Hypophosphatemia |
|
Shortening of the talar neck, Bowing of the long bones, Bowing of the legs, Beaded ribs, Enlargem... |
ORPHA:89936 |
| Tarp Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Pe... |
ORPHA:2886 |
| 2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Pectus excavatum, Narrow mouth, Enlarged thorax, Everted lower lip ... |
ORPHA:261349 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Neutropenia, B lymphocytopenia, Cerebral hemorrhage, Hepatosplenomegaly |
OMIM:301081 |
| Myhre Syndrome |
|
Vertebral fusion, Overlapping toe, Short neck, Pericardial effusion, Short toe, 2-3 toe syndactyl... |
OMIM:139210 |
| Isolated Biliary Atresia |
|
Conjugated hyperbilirubinemia, Failure to thrive, Severe failure to thrive, Small for gestational... |
ORPHA:30391 |
| Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia |
ORPHA:186 |
| Non-Functioning Pituitary Adenoma |
|
Anemia of inadequate production, Pallor, Hypotension |
ORPHA:91349 |
| 47,Xyy Syndrome |
|
Dysgenesis of the cerebellar vermis, Hydrocephalus, Abnormal brainstem morphology, Cerebellar dys... |
ORPHA:8 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Syndactyly, Clinodactyly |
OMIM:618087 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Metaphyseal dysplasia, Clinodactyly, Scoliosis, Short neck |
OMIM:618336 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... |
OMIM:271520 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:91500 |
| 17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia |
ORPHA:261265 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Erosion of oral mucosa, Multicystic kidney dysp... |
ORPHA:79404 |
| Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Pectus excavatum, Kyphosis, Clinodactyly, Radial deviation of finger |
OMIM:609944 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
| Prader-Willi Syndrome |
|
Syndactyly, Polyhydramnios, Kyphosis, Acromicria, Small hand, Narrow palm, Genu valgum, Short foo... |
OMIM:176270 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi... |
ORPHA:88 |
| Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Broad toe, Short neck, Pectus excavatum, 2-3 toe syndactyly, Broad finger, Scol... |
ORPHA:488632 |
| Roberts-Sc Phocomelia Syndrome |
|
Hypospadias, Cleft upper lip, Long penis, Cleft palate, Horseshoe kidney, Stillbirth, High palate... |
OMIM:268300 |
| Miller-Dieker Lissencephaly Syndrome |
|
Sacral dimple, Single transverse palmar crease, Polyhydramnios, Deep palmar crease, Polydactyly, ... |
OMIM:247200 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Thoracic scoliosis, Subdural hemorrhage, Cerebral hemorrhage |
OMIM:620278 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Limited elbow extension and supination, Brachydactyly, Broad toe, Rhizomelia, Sacral dimple, Shor... |
OMIM:180700 |
| Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Intracranial hemorrhage, Persistence of primary teeth, Raynaud phenomenon,... |
ORPHA:740 |
| Acute Liver Failure |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Hepatic necrosis, Hepatocellular necrosis,... |
ORPHA:90062 |
| Myopathy, Mitochondrial, And Ataxia |
|
Pallor, Scoliosis |
OMIM:617675 |
| Tay-Sachs Disease |
|
Cherry red spot of the macula, Pallor |
OMIM:272800 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Intraventricular hemorrhage, Neutropenia, Megaloblastic anemia |
ORPHA:79284 |
| Mirizzi Syndrome |
|
Hyperbilirubinemia |
ORPHA:521219 |
| Robinow Syndrome |
|
Multicystic kidney dysplasia, Dental crowding, Persistence of primary teeth, Missing ribs, Dental... |
ORPHA:97360 |
| Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Polydactyly, Hepatic cysts |
OMIM:616307 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Megacystis, ... |
ORPHA:2241 |
| Irida Syndrome |
|
Pallor |
ORPHA:209981 |
| Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele, Patellar hypoplasia, Talipes equinovarus, Preaxial foot polydactyly, ... |
ORPHA:1827 |
| Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... |
OMIM:171300 |
| Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Clinodactyly |
OMIM:614838 |
| Stromme Syndrome |
|
Hydrocephalus, Preaxial polydactyly |
OMIM:243605 |
| Cone-Rod Dystrophy 8 |
|
Retinal arteriolar constriction, Pallor |
OMIM:605549 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Thin upper lip vermilion, Lip pit, Non-midline cleft lip, Fibrous syngnathia, Abnormal rib morpho... |
ORPHA:1300 |
| Microcephaly-Capillary Malformation Syndrome |
|
Clinodactyly, Brachydactyly, Short distal phalanx of finger |
OMIM:614261 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Peptic ulcer, Hypercalcemia, Renal hamartoma, Nephrolithiasis, Renal cyst, H... |
ORPHA:99880 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
1-2 toe syndactyly, Broad hallux, Tapered finger, Small hand, Short foot, Hip dysplasia, Scoliosi... |
OMIM:301044 |
| Bardet-Biedl Syndrome |
|
Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia |
ORPHA:110 |
| Adnp Syndrome |
|
Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morphology, Abnormal fing... |
ORPHA:404448 |
| Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Central Y-shaped metacarpal, Preaxial polydactyly, Finger clin... |
ORPHA:2754 |
| Lathosterolosis |
|
Abnormal circulating cholesterol concentration, Elevated circulating lathosterol concentration, H... |
OMIM:607330 |
| Carpenter Syndrome 2 |
|
Short digit, Single transverse palmar crease, Postaxial polydactyly, Short neck, Pectus excavatum... |
OMIM:614976 |
| Fibrous Dysplasia Of Bone |
|
Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Abn... |
ORPHA:249 |
| Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Abnormal pons morphology, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Cerebellar... |
ORPHA:370997 |
| Liver Disease, Severe Congenital |
|
Hyponatremia, Inguinal hernia, Elevated circulating alpha-fetoprotein concentration, Increased ci... |
OMIM:619991 |
| Cranioectodermal Dysplasia 1 |
|
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar crease, Broad dista... |
OMIM:218330 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Conjugated hyperbilirubinemia, Hyperkalemia |
OMIM:608885 |
| Ohdo Syndrome, X-Linked |
|
Ulnar deviation of the hand, Overlapping toe, Short thumb, Hip dysplasia, Narrow chest, Scoliosis... |
OMIM:300895 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Renal agenesis, Intestinal malrotation, Aplastic clav... |
ORPHA:2538 |
| Parathyroid Carcinoma |
|
Renal insufficiency, Peptic ulcer, Hypercalcemia, Renal hamartoma, Nephrolithiasis, Renal cyst, H... |
ORPHA:143 |
| Hereditary Acrokeratotic Poikiloderma |
|
Premature loss of primary teeth, Abnormality of the dentition, Open bite, Abnormality of the uret... |
ORPHA:2907 |
| Myhre Syndrome |
|
Abnormal penis morphology, Hypospadias, Epispadias, Submucous cleft hard palate, Abnormal rib mor... |
ORPHA:2588 |
| Pallister-Hall Syndrome |
|
Hemivertebrae, Holoprosencephaly, Mesoaxial polydactyly, Radial bowing, Rib fusion, Umbilical her... |
ORPHA:672 |
| Schilbach-Rott Syndrome |
|
Clinodactyly, 2-3 toe cutaneous syndactyly, 3-4 finger cutaneous syndactyly |
OMIM:164220 |
| Joubert Syndrome 38 |
|
Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia, Cerebellar vermis hypoplasia |
OMIM:619476 |
| Alternating Hemiplegia Of Childhood |
|
Cardiac conduction abnormality, Cardiomyopathy, Abnormal autonomic nervous system physiology, Pal... |
ORPHA:2131 |
| Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Narrow che... |
OMIM:614099 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Splenomegaly, Shor... |
OMIM:232300 |
| Turnpenny-Fry Syndrome |
|
Thoracic kyphoscoliosis, Lumbar hyperlordosis, Overlapping toe, Polyhydramnios, Tapered finger, P... |
OMIM:618371 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Renal cyst, Horseshoe kidney |
ORPHA:166035 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Cerebellar hypoplasia, Dandy-Walker malformation, Facial cleft, Absent or minimally ossified vert... |
ORPHA:93271 |
| Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... |
ORPHA:220460 |
| Solitary Median Maxillary Central Incisor |
|
Coloboma, Cyclopia, Holoprosencephaly |
OMIM:147250 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Clinodactyly, Ectrodactyly |
OMIM:147950 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Sacral dimple, Postaxial polydactyly, Tapered finger, Small hand, Hip dislocation, Short foot, Hi... |
OMIM:300968 |
| Nelson Syndrome |
|
Intracranial hemorrhage, Hypertension, Optic nerve compression, Striae distensae |
ORPHA:199244 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Clinodactyly |
OMIM:603585 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Sacral dimple, Short neck, Kyphosis, Mesomelia, Scoliosis, Camptodactyly, Clinodactyl... |
OMIM:616894 |
| Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Micropenis, Bifid uvula, Penos... |
OMIM:270400 |
| Orofaciodigital Syndrome V |
|
Sandal gap, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Scoliosis |
OMIM:174300 |
| Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Renal cyst, Hepatomegaly |
OMIM:601539 |
| Fanconi Anemia, Complementation Group S |
|
Clinodactyly, Proximal placement of thumb |
OMIM:617883 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Sacral dimple, Short proximal phalanx of the 2nd finger... |
ORPHA:261323 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Swan neck-like deformities of the fingers, Arachnodactyly, Single transverse palmar crease, Short... |
OMIM:615656 |
| Faciocardiomelic Syndrome |
|
Cuboid-shaped vertebral bodies, Slender long bone, Polydactyly, Narrow chest, Hypoplastic pelvis |
OMIM:612731 |
| Cerebellofaciodental Syndrome |
|
Short neck, Hypoplasia of the pons, Cerebellar hypoplasia, Scoliosis, Hypoplasia of the midbrain |
OMIM:616202 |
| Wiedemann-Steiner Syndrome |
|
Aplasia/Hypoplasia of the ribs, Sacral dimple, Rhizomelia, Abnormality of the hand, Tapered finge... |
ORPHA:319182 |
| Degcags Syndrome |
|
Tachycardia, Pancytopenia, Sacral dimple, Congenital hypoplastic anemia, Patent ductus arteriosus... |
OMIM:619488 |
| Meckel Syndrome, Type 7 |
|
Pancreatic cysts, Multicystic kidney dysplasia, Multiple glomerular cysts, Stage 5 chronic kidney... |
OMIM:267010 |
| C Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Accessory oral frenulum, Renal hypoplasia/aplasia... |
ORPHA:1308 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Deep philtrum, Renal cyst, Wide mouth, Renal dysplasia, Smooth philtrum |
OMIM:617260 |
| Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem MRI signal intensity, Choroid hemorrhage, Abnormal brainstem morphology |
ORPHA:88619 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Hyperbilirubinemia |
ORPHA:562639 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Intracranial hemorrhage, Hypertension |
ORPHA:90795 |
| Orofaciodigital Syndrome Xvi |
|
Molar tooth sign on MRI |
OMIM:617563 |
| Prader-Willi Syndrome Due To Translocation |
|
Overlapping toe, Short neck, Small hand, Oligohydramnios, Short foot, Bilateral talipes equinovar... |
ORPHA:177907 |
| Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Tented upper lip vermilion, Renal hypoplasia, Renal cyst, Vesicoureteral re... |
OMIM:618460 |
| Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Abnormal clavicle morphology, Aganglionic megacolon, Hypospadias, Abno... |
ORPHA:798 |
| Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Arterial tortuosity, Patent ductus arteriosus, A... |
OMIM:619472 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Overweight, Obesity, Hyperbilirubinemia, Decreased body weight, Failure to thrive |
OMIM:619475 |
| Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... |
ORPHA:49 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Polydactyly, Holoprosencephaly, Osteoporosis of vertebrae, Abnormal digit morphology, Decreased c... |
ORPHA:95494 |
| Congenital Erythropoietic Porphyria |
|
Scarring, Increased connective tissue, Abnormal circulating porphyrin concentration, Scarring alo... |
ORPHA:79277 |
| Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Kyphoscoliosis, Hyperlordosis, Palpitations, Ganglioneuromatosis, Pallor, ... |
ORPHA:653 |
| Short Syndrome |
|
Enlarged epiphyses, Slender long bone, Ovarian cyst, Radial deviation of finger, Clinodactyly |
OMIM:269880 |
| Neurooculorenal Syndrome |
|
Conjugated hyperbilirubinemia, Recurrent hypoglycemia |
OMIM:620305 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Thick vermilion border, Renal cyst, Horseshoe kidney |
OMIM:250410 |
| Gangliocytoma |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology, Spinal cord tumor, Syringomyelia, ... |
ORPHA:251937 |
| Abeta Amyloidosis, Dutch Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:100006 |
| 2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Pyloric stenosis, Downturned corners of mouth, Thin vermilion borde... |
ORPHA:1001 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Brachydactyly, Sandal gap, Broad hallux, Clinodactyly, 3-4 toe syndactyly |
OMIM:618727 |
| Marfan Syndrome |
|
Congestive heart failure, Descending aortic dissection, Meningocele, Kyphosis, Dilatation of an a... |
ORPHA:558 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Conjugated hyperbilirubinemia |
ORPHA:168577 |
| Cardiac-Urogenital Syndrome |
|
Penoscrotal hypospadias, Intestinal malrotation, Patent urachus, Micropenis, Enlarged kidney |
OMIM:618280 |
| Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Splenomegaly, Orofacial cleft, N... |
ORPHA:1454 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Hepatomegaly, Renal insufficiency, Conjugated hyperbilirubinemia, Increased circulati... |
OMIM:619534 |
| Esophageal Atresia |
|
Coarctation of aorta, Pallor, Scoliosis, Tetralogy of Fallot, Abnormal vertebral morphology |
ORPHA:1199 |
| Yellow Fever |
|
Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Pancreatic hyper... |
ORPHA:99829 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Block vertebrae, Patent ductus arteriosus, Hydrocephalus, Hemivertebrae,... |
OMIM:164210 |
| Prolactinoma |
|
Pallor, Hypotension |
ORPHA:2965 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Umbilical hernia, Clinodactyly, Tethered cord |
OMIM:618164 |
| Immunodeficiency 96 |
|
Multicystic kidney dysplasia |
OMIM:619774 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Intraventricular hemorrhage, Erythema, Telangiectasia, Scaling skin |
ORPHA:420741 |
| Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
| Pearson Syndrome |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Hypomagnesemia, Splenomegaly, Lacticaciduria, Ste... |
ORPHA:699 |
| Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts, Elevated circulating creati... |
OMIM:618733 |
| Bardet-Biedl Syndrome 1 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ... |
OMIM:209900 |
| Reynolds Syndrome |
|
Calcinosis, Hyperbilirubinemia |
OMIM:613471 |
| Meier-Gorlin Syndrome 5 |
|
Elbow dislocation, Irregular femoral epiphysis, Patellar aplasia, Slender long bone, Hypoplasia o... |
OMIM:613805 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Scapular winging, Renal cyst, Cleft palate, Pectus carinatum, Failure of eruption of permanent te... |
OMIM:272460 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Myocarditis, Leukocytosis, Thrombocytopenia, Hypertension, Pallor, Hypertensive... |
ORPHA:544482 |
| Tetrasomy 9P |
|
Renal dysplasia, Aplasia/Hypoplasia of the clavicles, Recurrent urinary tract infections, Median ... |
ORPHA:3310 |
| Osteogenesis Imperfecta, Type Vii |
|
Multiple rib fractures, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversio... |
OMIM:610682 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Overlapping toe, Proximal placement of thumb, Tapered finger, Lymphedema, Abnormal sternum morpho... |
ORPHA:487796 |
| Hardikar Syndrome |
|
Umbilical hernia, Failure to thrive, Hyperbilirubinemia |
OMIM:301068 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Unilateral renal agenesis, Pectus excavatum, Renal cyst, Micropenis, Pelvic kidney, ... |
ORPHA:464311 |
| Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage |
ORPHA:100008 |
| Joubert Syndrome 21 |
|
Splenomegaly, Renal cyst, Bell-shaped thorax, Short ribs, Hyperechogenic kidneys |
OMIM:615636 |
| Nablus Mask-Like Facial Syndrome |
|
Sandal gap, Single transverse palmar crease, Short hallux, Tapered finger, Short neck, Camptodact... |
OMIM:608156 |
| Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Broad 2nd toe, Pectus excavatum, Palmoplantar hyperkeratosis, Large hands, Umbilical hernia, Bila... |
OMIM:280000 |
| Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
| Marburg Hemorrhagic Fever |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevate... |
ORPHA:99826 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Postaxial polydactyly, Increased nuchal translucency, Hip dysplasia, Branchial anomaly, Vertebral... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Postaxial polydactyly, Increased nuchal translucency, Hip dysplasia, Branchial anomaly, Vertebral... |
ORPHA:352665 |
| Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst |
OMIM:193300 |
| Noonan Syndrome 1 |
|
Pectus excavatum of inferior sternum, Kyphoscoliosis, Short neck, Lymphedema, Shield chest, Abnor... |
OMIM:163950 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Failure to thrive, Unconjugated hyperbilirubinemia |
OMIM:618278 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Coloboma, Anasarca, Pleural effusion, Ascites |
OMIM:618183 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Neonatal hyperbilirubinemia |
ORPHA:163956 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Cleft lip, Renal cyst, Furrowed tongue, High palate, Broad alveolar ridges, Vesicour... |
OMIM:616975 |
| Hajdu-Cheney Syndrome |
|
Hepatomegaly, Hypospadias, Intestinal malrotation, Abnormality of the dentition, Open bite, Splen... |
ORPHA:955 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Sacral dimple, Tapered finger, Abnormal toe morphology, Pectus excavatum, Kyphosis... |
ORPHA:268261 |
| Legius Syndrome |
|
Diaphyseal dysplasia, Abnormal sternum morphology, Polydactyly, Scoliosis, Clinodactyly of the 5t... |
ORPHA:137605 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Syndactyly, Narrow joint spaces of the elbow, Scoliosis, Clinodactyly of the 5th finger, Clinodac... |
ORPHA:96182 |
| Genitopatellar Syndrome |
|
Delayed eruption of teeth, Multicystic kidney dysplasia, Hydronephrosis, Long philtrum |
ORPHA:85201 |
| Yunis-Varon Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Anterior concavity of thoracic verte... |
OMIM:216340 |
| Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Avascular necrosis of the capital femoral epiphysis, Hydrocephalus,... |
ORPHA:581 |
| Senior-Boichis Syndrome |
|
Increased total bilirubin |
ORPHA:84081 |
| Oculodentodigital Dysplasia |
|
4-5 finger syndactyly, Hip dislocation, Joint contracture of the 5th finger, Short middle phalanx... |
OMIM:164200 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly |
ORPHA:314655 |
| Hydranencephaly |
|
Optic nerve hypoplasia, Abnormal internal carotid artery morphology, Dilatation of the ventricula... |
ORPHA:2177 |
| Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Renal cyst, Macroglossia, Thick vermilion border, Nephroblastoma, Bifid ureter... |
OMIM:617107 |
| Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Hypospadias, Aplastic clavicle, High, narrow palate, Epispadias, Submucous c... |
ORPHA:2554 |
| Alagille Syndrome 1 |
|
Duplicated collecting system, Hypertriglyceridemia, Multiple small medullary renal cysts, Abnorma... |
OMIM:118450 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele, Scaling skin, Dry skin, Facial erythema |
ORPHA:1010 |
| Acute Transverse Myelitis |
|
Back pain, Orthostatic hypotension, Subarachnoid hemorrhage, Hypertension, Abnormal autonomic ner... |
ORPHA:139417 |
| Tuberous Sclerosis 1 |
|
Dental enamel pits, Gingival fibromatosis, Renal cyst, Renal cell carcinoma, Renal angiomyolipoma |
OMIM:191100 |
| Alveolar Echinococcosis |
|
Pancreatic cysts, Renal cyst, Abnormal sternum morphology, Abnormal bladder morphology, Hepatic c... |
ORPHA:284 |
| Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, P... |
ORPHA:91347 |
| Charge Syndrome |
|
Polyhydramnios, Aqueductal stenosis, Abnormal tibia morphology, Abnormal rib morphology, Hemivert... |
ORPHA:138 |
| Choanal Atresia |
|
Polydactyly |
ORPHA:137914 |
| Kindler Epidermolysis Bullosa |
|
Urethral stricture, Abnormal dental enamel morphology, Premature loss of primary teeth, Phimosis,... |
ORPHA:2908 |
| Wiedemann-Rautenstrauch Syndrome |
|
Long toe, Short humerus, Short femur, Short neck, Hypoplastic ilia, Long fingers, Hydrocephalus, ... |
OMIM:264090 |
| Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida |
ORPHA:322 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hallux valgus, Rocker bottom foot, Camptodactyly of finger, Elbow flexion contracture, Joint cont... |
OMIM:602782 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Scoliosis, Cerebral hemorrhage |
OMIM:616682 |
| Autosomal Recessive Spastic Paraplegia Type 20 |
|
Abnormality of the hand, Abnormal thumb morphology, Abnormal hand morphology, Genu valgum, Clinod... |
ORPHA:101000 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis |
OMIM:619479 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thoracic scoliosis, Broad hallux, Single transverse palmar crease, Polyhydramnios... |
OMIM:620186 |
| Toriello-Carey Syndrome |
|
Short neck, Wide anterior fontanel, Narrow chest, Clinodactyly, Brachydactyly |
ORPHA:3338 |
| Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Gingival fibromatosis, Renal cyst, Renal cell ... |
OMIM:613254 |
| Witteveen-Kolk Syndrome |
|
Branchial fistula, Toe syndactyly, Overlapping toe, Arachnodactyly, Proximal placement of thumb, ... |
OMIM:613406 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Clinodactyly, Short distal phalanx of finger |
OMIM:615866 |
| Atelis Syndrome 2 |
|
Kyphosis, Clinodactyly, Sacral dimple, Single transverse palmar crease |
OMIM:620185 |
| Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Short neck, Patent ductus arteriosus, Aplasia of the epiglottis, Molar ... |
ORPHA:434179 |
| Bardet-Biedl Syndrome 20 |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:619471 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Overlapping toe, Tapered finger, Pectus excavatum, Small hand, Short foot, Scoliosis, Camptodacty... |
OMIM:309590 |
| Fraser Syndrome |
|
Death in infancy, Anal stenosis, Hypoplasia of penis, Dental crowding, Multicystic kidney dysplas... |
ORPHA:2052 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Clinodactyly of the 5th finger, Clinodactyly, Rhizomelia, Single transverse palmar crease |
OMIM:614114 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Syndactyly, Broad hallux, Deviation of the hallux, Polyhydramnios, Avascular necrosis of the capi... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Syndactyly, Broad hallux, Deviation of the hallux, Polyhydramnios, Avascular necrosis of the capi... |
ORPHA:353277 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Tachycardia, Tricuspid regurgitation, Right ventricular failure, Patent ductus arteriosus, Pulmon... |
ORPHA:99125 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Preaxial polydactyly |
ORPHA:163681 |
| Down Syndrome |
|
Sandal gap, Single transverse palmar crease, Hypoplastic iliac wing, Atlantoaxial instability, Br... |
OMIM:190685 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Abnormal midbrain morphology, Abnormal autonomic nervous system physiology, Scoliosis |
ORPHA:293987 |
| Monosomy 9P |
|
Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Postaxial hand polydact... |
ORPHA:261112 |
| Trisomy 10P |
|
Abnormality of the kidney, Orofacial cleft, Abnormal lip morphology, Thin vermilion border, High ... |
ORPHA:171929 |
| Distal Deletion 15Q |
|
Thin upper lip vermilion, Multicystic kidney dysplasia, Hypospadias, Abnormality of the dentition... |
ORPHA:1596 |
| Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
| Inhalational Anthrax |
|
Internal hemorrhage, Hypotension |
ORPHA:247257 |
| Semilobar Holoprosencephaly |
|
Hydrocephalus, Abnormal brainstem morphology, Abnormal heart rate variability, Neural tube defect... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Hydrocephalus, Abnormal brainstem morphology, Abnormal heart rate variability, Neural tube defect... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Hydrocephalus, Abnormal brainstem morphology, Abnormal heart rate variability, Neural tube defect... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Hydrocephalus, Abnormal brainstem morphology, Abnormal heart rate variability, Neural tube defect... |
ORPHA:93924 |
| Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Hypoplasia of the brainstem, Ho... |
OMIM:610828 |
| 6Q Terminal Deletion Syndrome |
|
Hallux valgus, Aplasia/Hypoplasia of the ribs, Short neck, Scoliosis, Clinodactyly |
ORPHA:75857 |
| Charge Syndrome |
|
Hypoplasia of the ulna, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Polyhydramnios, ... |
OMIM:214800 |
| Townes-Brocks Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha... |
ORPHA:857 |
| Lacrimoauriculodentodigital Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm... |
ORPHA:2363 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
11 pairs of ribs, Multicystic kidney dysplasia, Elevated circulating creatine kinase concentratio... |
OMIM:615287 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Limb undergrowth, Clinodactyly |
OMIM:616541 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Multicystic kidney dysplasia, Cleft palate, Colon cancer, Stomach cancer, N... |
ORPHA:1052 |
| Mullegama-Klein-Martinez Syndrome |
|
Clinodactyly of the 5th finger, Polydactyly, Scoliosis |
OMIM:301022 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Enamel hypoplasia, Neonatal hyperbilirubinemia |
OMIM:300896 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Unilateral re... |
OMIM:308205 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Abnormal brainstem morphology, Hypertension, Abnormal autonomic nervous system physiology, Hypote... |
ORPHA:93256 |
| Meckel Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the tongue, Pancreatic ... |
ORPHA:564 |
| Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Subdural hemorrhage |
OMIM:619714 |
| Okamoto Syndrome |
|
Tethered cord, Hip dysplasia, Syringomyelia, Polydactyly, Scoliosis, Oligohydramnios |
ORPHA:2729 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Short femur, Polydactyly |
ORPHA:17 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Clinodactyly, Camptodactyly |
ORPHA:228426 |
| Cutis Marmorata Telangiectatica Congenita |
|
Displacement of the urethral meatus, Multicystic kidney dysplasia, Orofacial cleft |
ORPHA:1556 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hallux valgus, Sacral dimple, Congenital hip dislocation, Overlapping toe, Thoracolumbar scoliosi... |
ORPHA:480880 |
| Culler-Jones Syndrome |
|
Postaxial polydactyly |
OMIM:615849 |
| Cornelia De Lange Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Intest... |
ORPHA:199 |
| Periventricular Nodular Heterotopia 9 |
|
Single transverse palmar crease, Tapered finger, Clinodactyly of the 5th finger, Prominent finger... |
OMIM:618918 |
| Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma |
ORPHA:538 |
| Rabson-Mendenhall Syndrome |
|
Polydactyly |
ORPHA:769 |
| Maternal Phenylketonuria |
|
Clinodactyly, Brachydactyly, Bifid distal phalanx of the thumb |
ORPHA:2209 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph... |
OMIM:149730 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Clinodactyly, Broad thumb, Single transverse palmar crease, Pectus carinatum |
OMIM:612541 |
| Johanson-Blizzard Syndrome |
|
Diabetes mellitus, Small for gestational age, Increased VLDL cholesterol concentration, Conjugate... |
OMIM:243800 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Tented philtrum, Renal cyst, Anteriorly placed anus, Long philtrum |
ORPHA:495875 |
| Mowat-Wilson Syndrome |
|
Dental crowding, Urinary incontinence, Cleft hard palate, Pectus carinatum, Widely spaced teeth, ... |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Dental crowding, Urinary incontinence, Cleft hard palate, Pectus carinatum, Short philtrum, Vesic... |
ORPHA:261537 |
| Coffin-Siris Syndrome |
|
Clinodactyly, Short 5th finger, Scoliosis |
ORPHA:1465 |
| Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... |
OMIM:607932 |
| Vascular Ehlers-Danlos Syndrome |
|
Redundant skin, Internal hemorrhage, Abnormal bleeding, Peripheral arteriovenous fistula, Varicos... |
ORPHA:286 |
| Pmm2-Cdg |
|
Pericarditis, Cerebellar vermis hypoplasia, Angina pectoris, Kyphoscoliosis, Intracranial hemorrh... |
ORPHA:79318 |
| Microphthalmia, Syndromic 1 |
|
Syndactyly, Lumbar hyperlordosis, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Kyphos... |
OMIM:309800 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Dental crowding, Urinary incontinence, Cleft hard palate, Pectus carinatum, Short philtrum, Vesic... |
ORPHA:261552 |
| Pallister-Killian Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Anal stenosis, Tented upper lip vermilion, H... |
OMIM:601803 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Clinodactyly, Camptodactyly |
OMIM:619343 |
| Townes-Brocks Syndrome 1 |
|
Anal stenosis, Rectoperineal fistula, Multicystic kidney dysplasia, Hypospadias, Renal insufficie... |
OMIM:107480 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Kyphoscoliosis, Tapered finger, Short neck, Genu valgum, Talipes equinovarus, Radial deviation of... |
OMIM:309580 |
| Proteus Syndrome |
|
Abnormal dental enamel morphology, Carious teeth, Enlarged polycystic ovaries, Splenomegaly, Long... |
ORPHA:744 |
| Craniosynostosis And Dental Anomalies |
|
Hallux valgus, Broad hallux, 2-3 toe syndactyly, Syringomyelia, Clinodactyly, Short phalanx of fi... |
OMIM:614188 |
| Branchiooculofacial Syndrome |
|
Hypospadias, Renal agenesis, Abnormality of the dentition, Malrotation of colon, Cleft upper lip,... |
OMIM:113620 |
| Neurocardiofaciodigital Syndrome |
|
Syndactyly, Polydactyly |
OMIM:619869 |
| Genitopatellar Syndrome |
|
Delayed eruption of teeth, Anal stenosis, Multicystic kidney dysplasia, Malrotation of small bowe... |
OMIM:606170 |
