TaoMedAI/RareMedData huggingface dataset:
Gene: HPGD
Phenotype: Scoliosis (HP:0002650)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HPGD
Phenotype: Wormian bones (HP:0002645)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 (OMIM:259100)
Gene: HPGD
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HPGD
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Osteolysis (HP:0002797)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Flushing (HP:0031284)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 (OMIM:259100)
Gene: HPGD
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: Cranio-osteoarthropathy; Reginato-Schiapachasse syndrome; Currarino idiopathic osteoarthropathy; Currarino disease (ORPHA:1525)
Gene: HPGD
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Malabsorption (HP:0002024)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Neoplasm of the lung (HP:0100526)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HPGD
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: Isolated congenital digital clubbing; Isolated nail clubbing; Isolated congenital acropachy (ORPHA:217059)
Gene: HPGD
Phenotype: Cutis gyrata of scalp (HP:0010541)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Congenital onset (HP:0003577)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 (OMIM:259100)
Gene: HPGD
Phenotype: Congenital onset (HP:0003577)
Associated disease: DIGITAL CLUBBING, ISOLATED CONGENITAL (OMIM:119900)
Gene: HPGD
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Abnormality of connective tissue (HP:0003549)
Associated disease: Isolated congenital digital clubbing; Isolated nail clubbing; Isolated congenital acropachy (ORPHA:217059)
Gene: HPGD
Phenotype: Abnormal hair pattern (HP:0010720)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Clubbing of toes (HP:0100760)
Associated disease: Isolated congenital digital clubbing; Isolated nail clubbing; Isolated congenital acropachy (ORPHA:217059)
Gene: HPGD
Phenotype: Clubbing of toes (HP:0100760)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Clubbing of toes (HP:0100760)
Associated disease: Cranio-osteoarthropathy; Reginato-Schiapachasse syndrome; Currarino idiopathic osteoarthropathy; Currarino disease (ORPHA:1525)
Gene: HPGD
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: Isolated congenital digital clubbing; Isolated nail clubbing; Isolated congenital acropachy (ORPHA:217059)
Gene: HPGD
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Dystrophic fingernails (HP:0008391)
Associated disease: Isolated congenital digital clubbing; Isolated nail clubbing; Isolated congenital acropachy (ORPHA:217059)
Gene: HPGD
Phenotype: Seborrheic dermatitis (HP:0001051)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 (OMIM:259100)
Gene: HPGD
Phenotype: Seborrheic dermatitis (HP:0001051)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Acne (HP:0001061)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HPGD
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Mottled pigmentation (HP:0001070)
Associated disease: Cranio-osteoarthropathy; Reginato-Schiapachasse syndrome; Currarino idiopathic osteoarthropathy; Currarino disease (ORPHA:1525)
Gene: HPGD
Phenotype: Thickened skin (HP:0001072)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Small hand (HP:0200055)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Erythema (HP:0010783)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 (OMIM:259100)
Gene: HPGD
Phenotype: Osteolytic defects of the phalanges of the hand (HP:0009771)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 (OMIM:259100)
Gene: HPGD
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HPGD
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HPGD
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HPGD
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Abnormal bone marrow cell morphology (HP:0005561)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HPGD
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HPGD
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HPGD
Phenotype: Anemia (HP:0001903)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Abnormal hair quantity (HP:0011362)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HPGD
Phenotype: Broad fingertip (HP:0011300)
Associated disease: Isolated congenital digital clubbing; Isolated nail clubbing; Isolated congenital acropachy (ORPHA:217059)
Gene: HPGD
Phenotype: Broad thumb (HP:0011304)
Associated disease: Isolated congenital digital clubbing; Isolated nail clubbing; Isolated congenital acropachy (ORPHA:217059)
Gene: HPGD
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Peptic ulcer (HP:0004398)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HPGD
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HPGD
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Arthropathy (HP:0003040)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 (OMIM:259100)
Gene: HPGD
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 (OMIM:259100)
Gene: HPGD
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Cranio-osteoarthropathy; Reginato-Schiapachasse syndrome; Currarino idiopathic osteoarthropathy; Currarino disease (ORPHA:1525)
Gene: HPGD
Phenotype: Abnormal skull morphology (HP:0000929)
Associated disease: Cranio-osteoarthropathy; Reginato-Schiapachasse syndrome; Currarino idiopathic osteoarthropathy; Currarino disease (ORPHA:1525)
Gene: HPGD
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HPGD
Phenotype: Long clavicles (HP:0000890)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 (OMIM:259100)
Gene: HPGD
Phenotype: Elevated circulating growth hormone concentration (HP:0000845)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HPGD
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HPGD
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Isolated congenital digital clubbing; Isolated nail clubbing; Isolated congenital acropachy (ORPHA:217059)
Gene: HPGD
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 (OMIM:259100)
Gene: HPGD
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 (OMIM:259100)
Gene: HPGD
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: Isolated congenital digital clubbing; Isolated nail clubbing; Isolated congenital acropachy (ORPHA:217059)
Gene: HPGD
Phenotype: Edema (HP:0000969)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Cranio-osteoarthropathy; Reginato-Schiapachasse syndrome; Currarino idiopathic osteoarthropathy; Currarino disease (ORPHA:1525)
Gene: HPGD
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 (OMIM:259100)
Gene: HPGD
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Osteoporosis (HP:0000939)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 (OMIM:259100)
Gene: HPGD
Phenotype: Osteopenia (HP:0000938)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 (OMIM:259100)
Gene: HPGD
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Coarse facial features (HP:0000280)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 (OMIM:259100)
Gene: HPGD
Phenotype: Abnormality of the knee (HP:0002815)
Associated disease: Cranio-osteoarthropathy; Reginato-Schiapachasse syndrome; Currarino idiopathic osteoarthropathy; Currarino disease (ORPHA:1525)
Gene: HPGD
Phenotype: Arthralgia (HP:0002829)
Associated disease: Cranio-osteoarthropathy; Reginato-Schiapachasse syndrome; Currarino idiopathic osteoarthropathy; Currarino disease (ORPHA:1525)
Gene: HPGD
Phenotype: Arthralgia (HP:0002829)
Associated disease: Isolated congenital digital clubbing; Isolated nail clubbing; Isolated congenital acropachy (ORPHA:217059)
Gene: HPGD
Phenotype: Arthralgia (HP:0002829)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Arthralgia (HP:0002829)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 (OMIM:259100)
Gene: HPGD
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Large fontanelles (HP:0000239)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 (OMIM:259100)
Gene: HPGD
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Cranio-osteoarthropathy; Reginato-Schiapachasse syndrome; Currarino idiopathic osteoarthropathy; Currarino disease (ORPHA:1525)
Gene: HPGD
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Redundant skin (HP:0001582)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 (OMIM:259100)
Gene: HPGD
Phenotype: Onychomycosis (HP:0012203)
Associated disease: Isolated congenital digital clubbing; Isolated nail clubbing; Isolated congenital acropachy (ORPHA:217059)
Gene: HPGD
Phenotype: High palate (HP:0000218)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 (OMIM:259100)
Gene: HPGD
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HPGD
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HPGD
Phenotype: Broad finger (HP:0001500)
Associated disease: Isolated congenital digital clubbing; Isolated nail clubbing; Isolated congenital acropachy (ORPHA:217059)
Gene: HPGD
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 (OMIM:259100)
Gene: HPGD
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HPGD
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HPGD
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HPGD
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 (OMIM:259100)
Gene: HPGD
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Abnormal tibia morphology (HP:0002992)
Associated disease: Cranio-osteoarthropathy; Reginato-Schiapachasse syndrome; Currarino idiopathic osteoarthropathy; Currarino disease (ORPHA:1525)
Gene: HPGD
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Genu varum (HP:0002970)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HPGD
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Hyperconvex nail (HP:0001795)
Associated disease: Isolated congenital digital clubbing; Isolated nail clubbing; Isolated congenital acropachy (ORPHA:217059)
Gene: HPGD
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HPGD
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Broad nail (HP:0001821)
Associated disease: Isolated congenital digital clubbing; Isolated nail clubbing; Isolated congenital acropachy (ORPHA:217059)
Gene: HPGD
Phenotype: Broad toe (HP:0001837)
Associated disease: Isolated congenital digital clubbing; Isolated nail clubbing; Isolated congenital acropachy (ORPHA:217059)
Gene: HPGD
Phenotype: Ptosis (HP:0000508)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 (OMIM:259100)
Gene: HPGD
Phenotype: Ptosis (HP:0000508)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: HPGD
Phenotype: Onychogryphosis (HP:0001805)
Associated disease: Isolated congenital digital clubbing; Isolated nail clubbing; Isolated congenital acropachy (ORPHA:217059)
Gene: HPGD
Phenotype: Deviation of finger (HP:0004097)
Associated disease: Cranio-osteoarthropathy; Reginato-Schiapachasse syndrome; Currarino idiopathic osteoarthropathy; Currarino disease (ORPHA:1525)
Gene: HPGD
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HPGD
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HPRT1
Phenotype: Poor head control (HP:0002421)
Associated disease: LESCH-NYHAN SYNDROME (OMIM:300322)
Gene: HPRT1
Phenotype: Motor delay (HP:0001270)
Associated disease: LESCH-NYHAN SYNDROME (OMIM:300322)
Gene: HPRT1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: HPRT complete deficiency; HPRT deficiency grade IV; Lesch-Nyhan syndrome; Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV; Hypoxanthine guanine phosphoribosyltransferase complete deficiency (ORPHA:510)
Gene: HPRT1
Phenotype: Seizure (HP:0001250)
Associated disease: LESCH-NYHAN SYNDROME (OMIM:300322)
Gene: HPRT1
Phenotype: Seizure (HP:0001250)
Associated disease: Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency; Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I; HPRT partial deficiency; HPRT-related gout; Kelley-Seegmiller syndrome; HPRT1 partial deficiency; HPRT deficiency, grade I; Hypoxanthine guanine phosphoribosyltransferase partial deficiency; HPRT-related hyperuricemia (ORPHA:79233)
Gene: HPRT1
Phenotype: Hypotonia (HP:0001252)
Associated disease: LESCH-NYHAN SYNDROME (OMIM:300322)
Gene: HPRT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LESCH-NYHAN SYNDROME (OMIM:300322)
Gene: HPRT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency; Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I; HPRT partial deficiency; HPRT-related gout; Kelley-Seegmiller syndrome; HPRT1 partial deficiency; HPRT deficiency, grade I; Hypoxanthine guanine phosphoribosyltransferase partial deficiency; HPRT-related hyperuricemia (ORPHA:79233)
Gene: HPRT1
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: LESCH-NYHAN SYNDROME (OMIM:300322)
Gene: HPRT1
Phenotype: Dysarthria (HP:0001260)
Associated disease: LESCH-NYHAN SYNDROME (OMIM:300322)
Gene: HPRT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LESCH-NYHAN SYNDROME (OMIM:300322)
Gene: HPRT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency; Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I; HPRT partial deficiency; HPRT-related gout; Kelley-Seegmiller syndrome; HPRT1 partial deficiency; HPRT deficiency, grade I; Hypoxanthine guanine phosphoribosyltransferase partial deficiency; HPRT-related hyperuricemia (ORPHA:79233)
Gene: HPRT1
Phenotype: Spasticity (HP:0001257)
Associated disease: HPRT complete deficiency; HPRT deficiency grade IV; Lesch-Nyhan syndrome; Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV; Hypoxanthine guanine phosphoribosyltransferase complete deficiency (ORPHA:510)