TaoMedAI/RareMedData huggingface dataset:
Gene: HOXD13
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: SYNPOLYDACTYLY 1 (OMIM:186000)
Gene: HOXD13
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Syndactyly type 5; Postaxial syndactyly with metacarpal synostosis; SD5 (ORPHA:93406)
Gene: HOXD13
Phenotype: Broad distal phalanx of the hallux (HP:0010077)
Associated disease: BRACHYDACTYLY, TYPE D (OMIM:113200)
Gene: HOXD13
Phenotype: Aplasia/Hypoplasia of the distal phalanx of the hallux (HP:0010076)
Associated disease: Brachydactyly type E (ORPHA:93387)
Gene: HOXD13
Phenotype: Short middle phalanx of the 5th finger (HP:0004220)
Associated disease: SYNPOLYDACTYLY 1 (OMIM:186000)
Gene: HOXD13
Phenotype: Short middle phalanx of the 5th finger (HP:0004220)
Associated disease: Brachydactyly-syndactyly, Zhao type (ORPHA:93409)
Gene: HOXD13
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXD13
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXD13
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXD13
Phenotype: Short metacarpal (HP:0010049)
Associated disease: Brachydactyly type E (ORPHA:93387)
Gene: HOXD13
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Short metacarpal (HP:0010049)
Associated disease: BRACHYDACTYLY, TYPE E1 (OMIM:113300)
Gene: HOXD13
Phenotype: Short 5th metacarpal (HP:0010047)
Associated disease: Brachydactyly-syndactyly, Zhao type (ORPHA:93409)
Gene: HOXD13
Phenotype: Broad hallux (HP:0010055)
Associated disease: SYNPOLYDACTYLY 1 (OMIM:186000)
Gene: HOXD13
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXD13
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Short stature (HP:0004322)
Associated disease: Brachydactyly type E (ORPHA:93387)
Gene: HOXD13
Phenotype: Type D brachydactyly (HP:0005627)
Associated disease: BRACHYDACTYLY, TYPE D (OMIM:113200)
Gene: HOXD13
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXD13
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXD13
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: Anorectal anomaly (HP:0012732)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Contracture of the proximal interphalangeal joint of the 5th finger (HP:0009185)
Associated disease: SYNPOLYDACTYLY 1 (OMIM:186000)
Gene: HOXD13
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Abnormality of the urethra (HP:0000795)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXD13
Phenotype: Non-midline cleft of the upper lip (HP:0100335)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXD13
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Short clavicles (HP:0000894)
Associated disease: BRACHYDACTYLY, TYPE E1 (OMIM:113300)
Gene: HOXD13
Phenotype: 4-5 metacarpal synostosis (HP:0005867)
Associated disease: SYNDACTYLY, TYPE V (OMIM:186300)
Gene: HOXD13
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXD13
Phenotype: Type E brachydactyly (HP:0005863)
Associated disease: Brachydactyly type E (ORPHA:93387)
Gene: HOXD13
Phenotype: Type E brachydactyly (HP:0005863)
Associated disease: BRACHYDACTYLY, TYPE E1 (OMIM:113300)
Gene: HOXD13
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: 2nd-5th toe middle phalangeal hypoplasia (HP:0008083)
Associated disease: SYNPOLYDACTYLY 1 (OMIM:186000)
Gene: HOXD13
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Brachydactyly type E (ORPHA:93387)
Gene: HOXD13
Phenotype: Abnormal intervertebral disk morphology (HP:0005108)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: Abnormal sacrum morphology (HP:0005107)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Multiple impacted teeth (HP:0001571)
Associated disease: BRACHYDACTYLY, TYPE E1 (OMIM:113300)
Gene: HOXD13
Phenotype: Large fontanelles (HP:0000239)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXD13
Phenotype: Omphalocele (HP:0001539)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXD13
Phenotype: 6 metacarpals (HP:0001501)
Associated disease: SYNPOLYDACTYLY 1 (OMIM:186000)
Gene: HOXD13
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Aplasia/Hypoplasia of the radius (HP:0006501)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXD13
Phenotype: Camptodactyly (HP:0012385)
Associated disease: BRACHYDACTYLY-SYNDACTYLY SYNDROME (OMIM:610713)
Gene: HOXD13
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Abnormality of the gallbladder (HP:0005264)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: Straight clavicles (HP:0006587)
Associated disease: BRACHYDACTYLY, TYPE E1 (OMIM:113300)
Gene: HOXD13
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXD13
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXD13
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Round face (HP:0000311)
Associated disease: BRACHYDACTYLY, TYPE E1 (OMIM:113300)
Gene: HOXD13
Phenotype: Premature birth (HP:0001622)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXD13
Phenotype: Abnormality of the pancreas (HP:0001732)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Brachydactyly-syndactyly, Zhao type (ORPHA:93409)
Gene: HOXD13
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Aplasia/Hypoplasia of the lungs (HP:0006703)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: Preaxial foot polydactyly (HP:0001841)
Associated disease: SYNPOLYDACTYLY 1 (OMIM:186000)
Gene: HOXD13
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXD13
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Hallux valgus (HP:0001822)
Associated disease: Brachydactyly-syndactyly, Zhao type (ORPHA:93409)
Gene: HOXD13
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: SYNPOLYDACTYLY 1 (OMIM:186000)
Gene: HOXD13
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HPD
Phenotype: Abnormal circulating tyrosine concentration (HP:0010917)
Associated disease: 4-HPPD deficiency; 4-hydroxyphenylpyruvic acid dioxygenase deficiency; 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency; Hawkinsinuria (ORPHA:2118)
Gene: HPD
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: TYROSINEMIA, TYPE III (OMIM:276710)
Gene: HPD
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: TYROSINEMIA, TYPE III (OMIM:276710)
Gene: HPD
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: HAWKINSINURIA (OMIM:140350)
Gene: HPD
Phenotype: Seizure (HP:0001250)
Associated disease: TYROSINEMIA, TYPE III (OMIM:276710)
Gene: HPD
Phenotype: Hypotonia (HP:0001252)
Associated disease: 4-HPPD deficiency; 4-hydroxyphenylpyruvic acid dioxygenase deficiency; 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency; Hawkinsinuria (ORPHA:2118)
Gene: HPD
Phenotype: Global developmental delay (HP:0001263)
Associated disease: TYROSINEMIA, TYPE III (OMIM:276710)
Gene: HPD
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: TYROSINEMIA, TYPE III (OMIM:276710)
Gene: HPD
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HAWKINSINURIA (OMIM:140350)
Gene: HPD
Phenotype: Hawkinsinuria (HP:0034457)
Associated disease: HAWKINSINURIA (OMIM:140350)
Gene: HPD
Phenotype: Infantile onset (HP:0003593)
Associated disease: TYROSINEMIA, TYPE III (OMIM:276710)
Gene: HPD
Phenotype: Infantile onset (HP:0003593)
Associated disease: HAWKINSINURIA (OMIM:140350)
Gene: HPD
Phenotype: Fine hair (HP:0002213)
Associated disease: 4-HPPD deficiency; 4-hydroxyphenylpyruvic acid dioxygenase deficiency; 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency; Hawkinsinuria (ORPHA:2118)
Gene: HPD
Phenotype: Neonatal onset (HP:0003623)
Associated disease: TYROSINEMIA, TYPE III (OMIM:276710)
Gene: HPD
Phenotype: 4-hydroxyphenylacetic aciduria (HP:0003607)
Associated disease: TYROSINEMIA, TYPE III (OMIM:276710)
Gene: HPD
Phenotype: 4-hydroxyphenylacetic aciduria (HP:0003607)
Associated disease: HAWKINSINURIA (OMIM:140350)
Gene: HPD
Phenotype: 4-hydroxyphenylacetic aciduria (HP:0003607)
Associated disease: 4-HPPD deficiency; 4-hydroxyphenylpyruvic acid dioxygenase deficiency; 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency; Hawkinsinuria (ORPHA:2118)
Gene: HPD
Phenotype: Elevated urine hydroxyphenyllactic acid level (HP:6001004)
Associated disease: HAWKINSINURIA (OMIM:140350)
Gene: HPD
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: HAWKINSINURIA (OMIM:140350)
Gene: HPD
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: 4-HPPD deficiency; 4-hydroxyphenylpyruvic acid dioxygenase deficiency; 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency; Hawkinsinuria (ORPHA:2118)
Gene: HPD
Phenotype: Restlessness (HP:0000711)
Associated disease: HAWKINSINURIA (OMIM:140350)
Gene: HPD
Phenotype: 4-Hydroxyphenylpyruvic aciduria (HP:0003161)
Associated disease: TYROSINEMIA, TYPE III (OMIM:276710)
Gene: HPD
Phenotype: 4-Hydroxyphenylpyruvic aciduria (HP:0003161)
Associated disease: HAWKINSINURIA (OMIM:140350)
Gene: HPD
Phenotype: 4-Hydroxyphenylpyruvic aciduria (HP:0003161)
Associated disease: 4-HPPD deficiency; 4-hydroxyphenylpyruvic acid dioxygenase deficiency; 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency; Hawkinsinuria (ORPHA:2118)
Gene: HPD
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: 4-HPPD deficiency; 4-hydroxyphenylpyruvic acid dioxygenase deficiency; 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency; Hawkinsinuria (ORPHA:2118)
Gene: HPD
Phenotype: Hypertyrosinemia (HP:0003231)
Associated disease: TYROSINEMIA, TYPE III (OMIM:276710)
Gene: HPD
Phenotype: Hypertyrosinemia (HP:0003231)
Associated disease: HAWKINSINURIA (OMIM:140350)
Gene: HPD
Phenotype: Sparse hair (HP:0008070)
Associated disease: HAWKINSINURIA (OMIM:140350)
Gene: HPD
Phenotype: Sparse hair (HP:0008070)
Associated disease: 4-HPPD deficiency; 4-hydroxyphenylpyruvic acid dioxygenase deficiency; 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency; Hawkinsinuria (ORPHA:2118)
Gene: HPD
Phenotype: Microcephaly (HP:0000252)
Associated disease: HAWKINSINURIA (OMIM:140350)
Gene: HPD
Phenotype: Failure to thrive (HP:0001508)
Associated disease: HAWKINSINURIA (OMIM:140350)
Gene: HPD
Phenotype: Failure to thrive (HP:0001508)
Associated disease: 4-HPPD deficiency; 4-hydroxyphenylpyruvic acid dioxygenase deficiency; 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency; Hawkinsinuria (ORPHA:2118)
Gene: HPD
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: TYROSINEMIA, TYPE III (OMIM:276710)
Gene: HPGD
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HPGD
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HPGD
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Clubbing (HP:0001217)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 (OMIM:259100)
Gene: HPGD
Phenotype: Clubbing (HP:0001217)
Associated disease: DIGITAL CLUBBING, ISOLATED CONGENITAL (OMIM:119900)
Gene: HPGD
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HPGD
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 (OMIM:259100)
Gene: HPGD
Phenotype: Arthritis (HP:0001369)
Associated disease: Cranio-osteoarthropathy; Reginato-Schiapachasse syndrome; Currarino idiopathic osteoarthropathy; Currarino disease (ORPHA:1525)
Gene: HPGD
Phenotype: Arthritis (HP:0001369)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Arthritis (HP:0001369)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 (OMIM:259100)
Gene: HPGD
Phenotype: Joint swelling (HP:0001386)
Associated disease: Cranio-osteoarthropathy; Reginato-Schiapachasse syndrome; Currarino idiopathic osteoarthropathy; Currarino disease (ORPHA:1525)
Gene: HPGD
Phenotype: Joint swelling (HP:0001386)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Cranio-osteoarthropathy; Reginato-Schiapachasse syndrome; Currarino idiopathic osteoarthropathy; Currarino disease (ORPHA:1525)
Gene: HPGD
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 (OMIM:259100)
Gene: HPGD
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HPGD
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HPGD
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 (OMIM:259100)
Gene: HPGD
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DIGITAL CLUBBING, ISOLATED CONGENITAL (OMIM:119900)
Gene: HPGD
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HPGD
Phenotype: Bone pain (HP:0002653)
Associated disease: Isolated congenital digital clubbing; Isolated nail clubbing; Isolated congenital acropachy (ORPHA:217059)
Gene: HPGD
Phenotype: Bone pain (HP:0002653)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)