TaoMedAI/RareMedData huggingface dataset:
Gene: RNF170
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT (OMIM:608984)
Gene: RNF170
Phenotype: Abnormal vestibulo-ocular reflex (HP:0007670)
Associated disease: ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT (OMIM:608984)
Gene: RNF170
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE (OMIM:619686)
Gene: RNF170
Phenotype: Gait ataxia (HP:0002066)
Associated disease: ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT (OMIM:608984)
Gene: RNF170
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE (OMIM:619686)
Gene: RNF170
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE (OMIM:619686)
Gene: RNF170
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE (OMIM:619686)
Gene: RNF170
Phenotype: Babinski sign (HP:0003487)
Associated disease: ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT (OMIM:608984)
Gene: RNF170
Phenotype: Distal sensory impairment of all modalities (HP:0003409)
Associated disease: ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT (OMIM:608984)
Gene: RNF170
Phenotype: Middle age onset (HP:0003596)
Associated disease: ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT (OMIM:608984)
Gene: RNF170
Phenotype: Decreased amplitude of sensory action potentials (HP:0007078)
Associated disease: ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT (OMIM:608984)
Gene: RNF170
Phenotype: Frequent falls (HP:0002359)
Associated disease: ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT (OMIM:608984)
Gene: RNF170
Phenotype: Impaired tactile sensation (HP:0010830)
Associated disease: SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE (OMIM:619686)
Gene: RNF170
Phenotype: Impaired proprioception (HP:0010831)
Associated disease: SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE (OMIM:619686)
Gene: RNF170
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE (OMIM:619686)
Gene: RNF170
Phenotype: Impaired distal proprioception (HP:0006858)
Associated disease: ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT (OMIM:608984)
Gene: RNF170
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT (OMIM:608984)
Gene: RNF170
Phenotype: Optic atrophy (HP:0000648)
Associated disease: SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE (OMIM:619686)
Gene: RNF170
Phenotype: Upper limb spasticity (HP:0006986)
Associated disease: SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE (OMIM:619686)
Gene: RNF170
Phenotype: Gait instability, worse in the dark (HP:0006962)
Associated disease: ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT (OMIM:608984)
Gene: RNF170
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE (OMIM:619686)
Gene: RNF170
Phenotype: Torticollis (HP:0000473)
Associated disease: SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE (OMIM:619686)
Gene: RNF170
Phenotype: Dysesthesia (HP:0012534)
Associated disease: ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT (OMIM:608984)
Gene: ADAMTS10
Phenotype: Broad palm (HP:0001169)
Associated disease: WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Gene: ADAMTS10
Phenotype: Brachydactyly (HP:0001156)
Associated disease: WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Gene: ADAMTS10
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS10
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS10
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS10
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Gene: ADAMTS10
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS10
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Broad metacarpals (HP:0001230)
Associated disease: WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Gene: ADAMTS10
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS10
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS10
Phenotype: Joint stiffness (HP:0001387)
Associated disease: WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Gene: ADAMTS10
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS10
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Broad skull (HP:0002682)
Associated disease: WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Gene: ADAMTS10
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS10
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS10
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Gene: ADAMTS10
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS10
Phenotype: Scoliosis (HP:0002650)
Associated disease: WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Gene: ADAMTS10
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS10
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS10
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Narrow palate (HP:0000189)
Associated disease: WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Gene: ADAMTS10
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Thin bony cortex (HP:0002753)
Associated disease: WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Gene: ADAMTS10
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS10
Phenotype: Microspherophakia (HP:0030961)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS10
Phenotype: Microspherophakia (HP:0030961)
Associated disease: WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Gene: ADAMTS10
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS10
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Spinal canal stenosis (HP:0003416)
Associated disease: WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Gene: ADAMTS10
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Proportionate short stature (HP:0003508)
Associated disease: WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Gene: ADAMTS10
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS10
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Thickened skin (HP:0001072)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS10
Phenotype: Thickened skin (HP:0001072)
Associated disease: WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Gene: ADAMTS10
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS10
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Gene: ADAMTS10
Phenotype: Short thumb (HP:0009778)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS10
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS10
Phenotype: Broad phalanges of the hand (HP:0009768)
Associated disease: WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Gene: ADAMTS10
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS10
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS10
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS10
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS10
Phenotype: Blindness (HP:0000618)
Associated disease: WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Gene: ADAMTS10
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS10
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Tooth malposition (HP:0000692)
Associated disease: WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Gene: ADAMTS10
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS10
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Short stature (HP:0004322)
Associated disease: WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Gene: ADAMTS10
Phenotype: Short stature (HP:0004322)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS10
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS10
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS10
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS10
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS10
Phenotype: Broad ribs (HP:0000885)
Associated disease: WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Gene: ADAMTS10
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS10
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS10
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Brachycephaly (HP:0000248)
Associated disease: WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Gene: ADAMTS10
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS10
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS10
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS10
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Gene: ADAMTS10
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS10
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Gene: ADAMTS10
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS10
Phenotype: High myopia (HP:0011003)
Associated disease: WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Gene: ADAMTS10
Phenotype: High myopia (HP:0011003)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS10
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS10
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Gene: ADAMTS10
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS10
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Gene: ADAMTS10
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS10
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Gene: ADAMTS10
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS10
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Gene: ADAMTS10
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Gene: ADAMTS10
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS10
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Gene: ADAMTS10
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS10
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS10
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Gene: ADAMTS10
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Broad metatarsal (HP:0001783)
Associated disease: WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Gene: ADAMTS10
Phenotype: Cataract (HP:0000518)
Associated disease: WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Gene: ADAMTS10
Phenotype: Cataract (HP:0000518)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS10
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS10
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Glaucoma (HP:0000501)
Associated disease: WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Gene: ADAMTS10
Phenotype: Glaucoma (HP:0000501)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS10
Phenotype: Shallow anterior chamber (HP:0000594)
Associated disease: WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Gene: ADAMTS10
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Shallow orbits (HP:0000586)
Associated disease: WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Gene: ADAMTS10
Phenotype: Visual loss (HP:0000572)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS10
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS10
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO5A1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO5A1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO5A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO5A1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO5A1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO5A1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO5A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO5A1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO5A1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO5A1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO5A1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO5A1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO5A1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO5A1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO5A1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO5A1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)