TaoMedAI/RareMedData huggingface dataset:
Gene: GH1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GH1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GH1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GH1
Phenotype: Micropenis (HP:0000054)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB (OMIM:612781)
Gene: GH1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GH1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GH1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB (OMIM:612781)
Gene: GH1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA (OMIM:262400)
Gene: GH1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: KOWARSKI SYNDROME (OMIM:262650)
Gene: GH1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GH1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II (OMIM:173100)
Gene: GH1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GH1
Phenotype: Scoliosis (HP:0002650)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II (OMIM:173100)
Gene: GH1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GH1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: KOWARSKI SYNDROME (OMIM:262650)
Gene: GH1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB (OMIM:612781)
Gene: GH1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GH1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Infantile onset (HP:0003593)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA (OMIM:262400)
Gene: GH1
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II (OMIM:173100)
Gene: GH1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Severe short stature (HP:0003510)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA (OMIM:262400)
Gene: GH1
Phenotype: Severe short stature (HP:0003510)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II (OMIM:173100)
Gene: GH1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GH1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GH1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GH1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GH1
Phenotype: Acromicria (HP:0031878)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB (OMIM:612781)
Gene: GH1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GH1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GH1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA (OMIM:262400)
Gene: GH1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: KOWARSKI SYNDROME (OMIM:262650)
Gene: GH1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GH1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GH1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Short stature (HP:0004322)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB (OMIM:612781)
Gene: GH1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GH1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GH1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Childhood onset (HP:0011463)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II (OMIM:173100)
Gene: GH1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GH1
Phenotype: Persistent open anterior fontanelle (HP:0004474)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA (OMIM:262400)
Gene: GH1
Phenotype: Pituitary dwarfism (HP:0000839)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II (OMIM:173100)
Gene: GH1
Phenotype: Pituitary dwarfism (HP:0000839)
Associated disease: KOWARSKI SYNDROME (OMIM:262650)
Gene: GH1
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB (OMIM:612781)
Gene: GH1
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II (OMIM:173100)
Gene: GH1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GH1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GH1
Phenotype: Reduced circulating growth hormone concentration (HP:0034323)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA (OMIM:262400)
Gene: GH1
Phenotype: Reduced circulating growth hormone concentration (HP:0034323)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB (OMIM:612781)
Gene: GH1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GH1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GH1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Growth delay (HP:0001510)
Associated disease: KOWARSKI SYNDROME (OMIM:262650)
Gene: GH1
Phenotype: Growth delay (HP:0001510)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA (OMIM:262400)
Gene: GH1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GH1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA (OMIM:262400)
Gene: GH1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GH1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GH1
Phenotype: High forehead (HP:0000348)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA (OMIM:262400)
Gene: GH1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GH1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA (OMIM:262400)
Gene: GH1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GH1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Decreased serum insulin-like growth factor 1 (HP:0030353)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II (OMIM:173100)
Gene: GH1
Phenotype: Decreased serum insulin-like growth factor 1 (HP:0030353)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA (OMIM:262400)
Gene: GH1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GH1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHR
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Primary growth hormone insensitivity; Complete growth hormone insensitivity; Short stature due to growth hormone resistance; Primary GH resistance; Growth hormone receptor deficiency; GH receptor deficiency; Laron-type dwarfism; Laron syndrome; Primary GH insensitivity; Primary growth hormone resistance (ORPHA:633)
Gene: GHR
Phenotype: Xanthelasma (HP:0001114)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (OMIM:143890)
Gene: GHR
Phenotype: Aplasia/Hypoplasia involving the nose (HP:0009924)
Associated disease: Primary growth hormone insensitivity; Complete growth hormone insensitivity; Short stature due to growth hormone resistance; Primary GH resistance; Growth hormone receptor deficiency; GH receptor deficiency; Laron-type dwarfism; Laron syndrome; Primary GH insensitivity; Primary growth hormone resistance (ORPHA:633)
Gene: GHR
Phenotype: Tendon xanthomatosis (HP:0010874)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (OMIM:143890)
Gene: GHR
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: Primary growth hormone insensitivity; Complete growth hormone insensitivity; Short stature due to growth hormone resistance; Primary GH resistance; Growth hormone receptor deficiency; GH receptor deficiency; Laron-type dwarfism; Laron syndrome; Primary GH insensitivity; Primary growth hormone resistance (ORPHA:633)
Gene: GHR
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHR
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHR
Phenotype: Motor delay (HP:0001270)
Associated disease: Primary growth hormone insensitivity; Complete growth hormone insensitivity; Short stature due to growth hormone resistance; Primary GH resistance; Growth hormone receptor deficiency; GH receptor deficiency; Laron-type dwarfism; Laron syndrome; Primary GH insensitivity; Primary growth hormone resistance (ORPHA:633)
Gene: GHR
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHR
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Primary growth hormone insensitivity; Complete growth hormone insensitivity; Short stature due to growth hormone resistance; Primary GH resistance; Growth hormone receptor deficiency; GH receptor deficiency; Laron-type dwarfism; Laron syndrome; Primary GH insensitivity; Primary growth hormone resistance (ORPHA:633)
Gene: GHR
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHR
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHR
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Primary growth hormone insensitivity; Complete growth hormone insensitivity; Short stature due to growth hormone resistance; Primary GH resistance; Growth hormone receptor deficiency; GH receptor deficiency; Laron-type dwarfism; Laron syndrome; Primary GH insensitivity; Primary growth hormone resistance (ORPHA:633)
Gene: GHR
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHR
Phenotype: Abnormal joint morphology (HP:0001367)
Associated disease: LARON SYNDROME (OMIM:262500)
Gene: GHR
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHR
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHR
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHR
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Primary growth hormone insensitivity; Complete growth hormone insensitivity; Short stature due to growth hormone resistance; Primary GH resistance; Growth hormone receptor deficiency; GH receptor deficiency; Laron-type dwarfism; Laron syndrome; Primary GH insensitivity; Primary growth hormone resistance (ORPHA:633)
Gene: GHR
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHR
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHR
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (OMIM:143890)
Gene: GHR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LARON SYNDROME (OMIM:262500)
Gene: GHR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (OMIM:143890)
Gene: GHR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GROWTH HORMONE INSENSITIVITY, PARTIAL (OMIM:604271)
Gene: GHR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHR
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHR
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHR
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHR
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHR
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHR
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHR
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: Primary growth hormone insensitivity; Complete growth hormone insensitivity; Short stature due to growth hormone resistance; Primary GH resistance; Growth hormone receptor deficiency; GH receptor deficiency; Laron-type dwarfism; Laron syndrome; Primary GH insensitivity; Primary growth hormone resistance (ORPHA:633)
Gene: GHR
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Short stature due to partial GHR deficiency; Short stature due to partial growth hormone receptor deficiency (ORPHA:314802)
Gene: GHR
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: LARON SYNDROME (OMIM:262500)
Gene: GHR
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Primary growth hormone insensitivity; Complete growth hormone insensitivity; Short stature due to growth hormone resistance; Primary GH resistance; Growth hormone receptor deficiency; GH receptor deficiency; Laron-type dwarfism; Laron syndrome; Primary GH insensitivity; Primary growth hormone resistance (ORPHA:633)
Gene: GHR
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Short stature due to partial GHR deficiency; Short stature due to partial growth hormone receptor deficiency (ORPHA:314802)
Gene: GHR
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHR
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHR
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHR
Phenotype: Severe short stature (HP:0003510)
Associated disease: LARON SYNDROME (OMIM:262500)
Gene: GHR
Phenotype: Severe short stature (HP:0003510)
Associated disease: Primary growth hormone insensitivity; Complete growth hormone insensitivity; Short stature due to growth hormone resistance; Primary GH resistance; Growth hormone receptor deficiency; GH receptor deficiency; Laron-type dwarfism; Laron syndrome; Primary GH insensitivity; Primary growth hormone resistance (ORPHA:633)
Gene: GHR
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHR
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHR
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: LARON SYNDROME (OMIM:262500)
Gene: GHR
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Primary growth hormone insensitivity; Complete growth hormone insensitivity; Short stature due to growth hormone resistance; Primary GH resistance; Growth hormone receptor deficiency; GH receptor deficiency; Laron-type dwarfism; Laron syndrome; Primary GH insensitivity; Primary growth hormone resistance (ORPHA:633)
Gene: GHR
Phenotype: Abnormality of the elbow (HP:0009811)
Associated disease: Primary growth hormone insensitivity; Complete growth hormone insensitivity; Short stature due to growth hormone resistance; Primary GH resistance; Growth hormone receptor deficiency; GH receptor deficiency; Laron-type dwarfism; Laron syndrome; Primary GH insensitivity; Primary growth hormone resistance (ORPHA:633)
Gene: GHR
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHR
Phenotype: Corneal arcus (HP:0001084)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (OMIM:143890)
Gene: GHR
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHR
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHR
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHR
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHR
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHR
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHR
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Short stature due to partial GHR deficiency; Short stature due to partial growth hormone receptor deficiency (ORPHA:314802)
Gene: GHR
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Primary growth hormone insensitivity; Complete growth hormone insensitivity; Short stature due to growth hormone resistance; Primary GH resistance; Growth hormone receptor deficiency; GH receptor deficiency; Laron-type dwarfism; Laron syndrome; Primary GH insensitivity; Primary growth hormone resistance (ORPHA:633)