TaoMedAI/RareMedData huggingface dataset:
Gene: MYOT
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOPATHY, MYOFIBRILLAR, 3 (OMIM:609200)
Gene: MYOT
Phenotype: Hyporeflexia of lower limbs (HP:0002600)
Associated disease: MYOPATHY, MYOFIBRILLAR, 3 (OMIM:609200)
Gene: MYOT
Phenotype: Abnormal respiratory system physiology (HP:0002795)
Associated disease: Distal myotilinopathy (ORPHA:98911)
Gene: MYOT
Phenotype: Reduced vital capacity (HP:0002792)
Associated disease: Distal myotilinopathy (ORPHA:98911)
Gene: MYOT
Phenotype: Myalgia (HP:0003326)
Associated disease: MYOPATHY, MYOFIBRILLAR, 3 (OMIM:609200)
Gene: MYOT
Phenotype: Dysphagia (HP:0002015)
Associated disease: Distal myotilinopathy (ORPHA:98911)
Gene: MYOT
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Distal myotilinopathy (ORPHA:98911)
Gene: MYOT
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Distal myotilinopathy (ORPHA:98911)
Gene: MYOT
Phenotype: Adult onset (HP:0003581)
Associated disease: MYOPATHY, MYOFIBRILLAR, 3 (OMIM:609200)
Gene: MYOT
Phenotype: Muscle fiber splitting (HP:0003555)
Associated disease: MYOPATHY, MYOFIBRILLAR, 3 (OMIM:609200)
Gene: MYOT
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: Distal myotilinopathy (ORPHA:98911)
Gene: MYOT
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: MYOPATHY, MYOFIBRILLAR, 3 (OMIM:609200)
Gene: MYOT
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: Distal myotilinopathy (ORPHA:98911)
Gene: MYOT
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: Distal myotilinopathy (ORPHA:98911)
Gene: MYOT
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MYOPATHY, MYOFIBRILLAR, 3 (OMIM:609200)
Gene: MYOT
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: Distal myotilinopathy (ORPHA:98911)
Gene: MYOT
Phenotype: Difficulty standing (HP:0003698)
Associated disease: Distal myotilinopathy (ORPHA:98911)
Gene: MYOT
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: MYOPATHY, MYOFIBRILLAR, 3 (OMIM:609200)
Gene: MYOT
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Distal myotilinopathy (ORPHA:98911)
Gene: MYOT
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: MYOPATHY, MYOFIBRILLAR, 3 (OMIM:609200)
Gene: MYOT
Phenotype: Slowly progressive (HP:0003677)
Associated disease: MYOPATHY, MYOFIBRILLAR, 3 (OMIM:609200)
Gene: MYOT
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Distal myotilinopathy (ORPHA:98911)
Gene: MYOT
Phenotype: Progressive proximal muscle weakness (HP:0009073)
Associated disease: Distal myotilinopathy (ORPHA:98911)
Gene: MYOT
Phenotype: Progressive distal muscle weakness (HP:0009063)
Associated disease: Distal myotilinopathy (ORPHA:98911)
Gene: MYOT
Phenotype: Progressive distal muscle weakness (HP:0009063)
Associated disease: MYOPATHY, MYOFIBRILLAR, 3 (OMIM:609200)
Gene: MYOT
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Distal myotilinopathy (ORPHA:98911)
Gene: MYOT
Phenotype: Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)
Associated disease: MYOPATHY, MYOFIBRILLAR, 3 (OMIM:609200)
Gene: MYOT
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MYOPATHY, MYOFIBRILLAR, 3 (OMIM:609200)
Gene: MYOT
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Distal myotilinopathy (ORPHA:98911)
Gene: MYOT
Phenotype: Increased endomysial connective tissue (HP:0100297)
Associated disease: Distal myotilinopathy (ORPHA:98911)
Gene: MYOT
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: Distal myotilinopathy (ORPHA:98911)
Gene: MYOT
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: Distal myotilinopathy (ORPHA:98911)
Gene: MYOT
Phenotype: Limited knee flexion/extension (HP:0005085)
Associated disease: Distal myotilinopathy (ORPHA:98911)
Gene: MYOT
Phenotype: Limited elbow flexion (HP:0006376)
Associated disease: Distal myotilinopathy (ORPHA:98911)
Gene: MYOT
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Distal myotilinopathy (ORPHA:98911)
Gene: MYOT
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Distal myotilinopathy (ORPHA:98911)
Gene: MYOT
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: MYOPATHY, MYOFIBRILLAR, 3 (OMIM:609200)
Gene: MYOT
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Distal myotilinopathy (ORPHA:98911)
Gene: MYOT
Phenotype: Reduced maximal inspiratory pressure (HP:0012496)
Associated disease: Distal myotilinopathy (ORPHA:98911)
Gene: MYOT
Phenotype: Abnormal muscle fiber myotilin (HP:0030226)
Associated disease: Distal myotilinopathy (ORPHA:98911)
Gene: MYOT
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: MYOPATHY, MYOFIBRILLAR, 3 (OMIM:609200)
Gene: MYOT
Phenotype: Loss of ability to walk in first decade (HP:0006794)
Associated disease: Distal myotilinopathy (ORPHA:98911)
Gene: MYOT
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: Distal myotilinopathy (ORPHA:98911)
Gene: MYOT
Phenotype: Hip flexor weakness (HP:0012515)
Associated disease: Distal myotilinopathy (ORPHA:98911)
Gene: ADAMTS3
Phenotype: Benign neoplasm of the central nervous system (HP:0100835)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Seizure (HP:0001250)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Hydrocele testis (HP:0000034)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3 (OMIM:618154)
Gene: ADAMTS3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3 (OMIM:618154)
Gene: ADAMTS3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ADAMTS3
Phenotype: Pachygyria (HP:0001302)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ADAMTS3
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ADAMTS3
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Malabsorption (HP:0002024)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Migraine (HP:0002076)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3 (OMIM:618154)
Gene: ADAMTS3
Phenotype: Spontaneous pneumothorax (HP:0002108)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3 (OMIM:618154)
Gene: ADAMTS3
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Abnormal oral mucosa morphology (HP:0011830)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Congenital onset (HP:0003577)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3 (OMIM:618154)
Gene: ADAMTS3
Phenotype: Protein-losing enteropathy (HP:0002243)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3 (OMIM:618154)
Gene: ADAMTS3
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ADAMTS3
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Lymphangioma (HP:0100764)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ADAMTS3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3 (OMIM:618154)
Gene: ADAMTS3
Phenotype: Erysipelas (HP:0001055)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Lymphedema (HP:0001004)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Lymphedema (HP:0001004)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3 (OMIM:618154)
Gene: ADAMTS3
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ADAMTS3
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ADAMTS3
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ADAMTS3
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ADAMTS3
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ADAMTS3
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Synophrys (HP:0000664)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3 (OMIM:618154)
Gene: ADAMTS3
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ADAMTS3
Phenotype: Arteriovenous malformation (HP:0100026)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Narrow chest (HP:0000774)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ADAMTS3
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ADAMTS3
Phenotype: Chylothorax (HP:0010310)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ADAMTS3
Phenotype: Epicanthus (HP:0000286)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Retrognathia (HP:0000278)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ADAMTS3
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3 (OMIM:618154)
Gene: ADAMTS3
Phenotype: Mild postnatal growth retardation (HP:0001530)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Ascites (HP:0001541)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ADAMTS3
Phenotype: Supernumerary tooth (HP:0011069)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Flat face (HP:0012368)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Flat face (HP:0012368)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3 (OMIM:618154)
Gene: ADAMTS3
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Pulmonary lymphangiectasia (HP:0006521)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Low-set ears (HP:0000369)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Broad forehead (HP:0000337)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ADAMTS3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3 (OMIM:618154)
Gene: ADAMTS3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ADAMTS3
Phenotype: Short philtrum (HP:0000322)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ADAMTS3
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ADAMTS3
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Strabismus (HP:0000486)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3 (OMIM:618154)
Gene: ADAMTS3
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ADAMTS3
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ADAMTS3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3 (OMIM:618154)
Gene: ADAMTS3
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ADAMTS3
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ADAMTS3
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ADAMTS3
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ADAMTS3
Phenotype: Glaucoma (HP:0000501)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3 (OMIM:618154)
Gene: ADAMTS3
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: ADAMTS3
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ADAMTS2
Phenotype: Motor delay (HP:0001270)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTS2
Phenotype: Excessive wrinkled skin (HP:0007392)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTS2
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTS2
Phenotype: Abnormal joint morphology (HP:0001367)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTS2
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTS2
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTS2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTS2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTS2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Coxa valga (HP:0002673)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTS2
Phenotype: Delayed closure of the anterior fontanelle (HP:0001476)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Rickets (HP:0002748)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTS2
Phenotype: Osteomalacia (HP:0002749)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTS2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTS2
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTS2
Phenotype: Femoral hernia (HP:0100541)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTS2
Phenotype: Echolalia (HP:0010529)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTS2
Phenotype: Infantile onset (HP:0003593)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Congenital onset (HP:0003577)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Spontaneous neonatal pneumothorax (HP:0004876)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Hernia (HP:0100790)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTS2
Phenotype: Frontal open bite (HP:0200094)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)