TaoMedAI/RareMedData huggingface dataset:
Gene: GHRHR
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHRHR
Phenotype: Decreased serum insulin-like growth factor 1 (HP:0030353)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV (OMIM:618157)
Gene: GHRHR
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHRHR
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHRHR
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHSR
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHSR
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHSR
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHSR
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHSR
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL (OMIM:615925)
Gene: GHSR
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHSR
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL (OMIM:615925)
Gene: GHSR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL (OMIM:615925)
Gene: GHSR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHSR
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHSR
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHSR
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Short stature due to growth hormone secretagogue receptor deficiency; Ghrelin receptor deficiency; Short stature due to GHSR deficiency (ORPHA:314811)
Gene: GHSR
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL (OMIM:615925)
Gene: GHSR
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Short stature due to growth hormone secretagogue receptor deficiency; Ghrelin receptor deficiency; Short stature due to GHSR deficiency (ORPHA:314811)
Gene: GHSR
Phenotype: Vomiting (HP:0002013)
Associated disease: Short stature due to growth hormone secretagogue receptor deficiency; Ghrelin receptor deficiency; Short stature due to GHSR deficiency (ORPHA:314811)
Gene: GHSR
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHSR
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHSR
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHSR
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHSR
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHSR
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHSR
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHSR
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Short stature due to growth hormone secretagogue receptor deficiency; Ghrelin receptor deficiency; Short stature due to GHSR deficiency (ORPHA:314811)
Gene: GHSR
Phenotype: Ketosis (HP:0001946)
Associated disease: Short stature due to growth hormone secretagogue receptor deficiency; Ghrelin receptor deficiency; Short stature due to GHSR deficiency (ORPHA:314811)
Gene: GHSR
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHSR
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHSR
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Decreased body weight (HP:0004325)
Associated disease: Short stature due to growth hormone secretagogue receptor deficiency; Ghrelin receptor deficiency; Short stature due to GHSR deficiency (ORPHA:314811)
Gene: GHSR
Phenotype: Abnormality of body weight (HP:0004323)
Associated disease: Short stature due to growth hormone secretagogue receptor deficiency; Ghrelin receptor deficiency; Short stature due to GHSR deficiency (ORPHA:314811)
Gene: GHSR
Phenotype: Short stature (HP:0004322)
Associated disease: Short stature due to growth hormone secretagogue receptor deficiency; Ghrelin receptor deficiency; Short stature due to GHSR deficiency (ORPHA:314811)
Gene: GHSR
Phenotype: Short stature (HP:0004322)
Associated disease: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL (OMIM:615925)
Gene: GHSR
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHSR
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHSR
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHSR
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL (OMIM:615925)
Gene: GHSR
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHSR
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Short stature due to growth hormone secretagogue receptor deficiency; Ghrelin receptor deficiency; Short stature due to GHSR deficiency (ORPHA:314811)
Gene: GHSR
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHSR
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHSR
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHSR
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Growth delay (HP:0001510)
Associated disease: Short stature due to growth hormone secretagogue receptor deficiency; Ghrelin receptor deficiency; Short stature due to GHSR deficiency (ORPHA:314811)
Gene: GHSR
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHSR
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHSR
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHSR
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHSR
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Small pituitary gland (HP:0012506)
Associated disease: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL (OMIM:615925)
Gene: GHSR
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GHSR
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Decreased serum insulin-like growth factor 1 (HP:0030353)
Associated disease: Short stature due to growth hormone secretagogue receptor deficiency; Ghrelin receptor deficiency; Short stature due to GHSR deficiency (ORPHA:314811)
Gene: GHSR
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GHSR
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CBLIF
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency; Congenital pernicious anemia; IFD; Congenital intrinsic factor deficiency; Intrinsic factor deficiency; Gastric intrinsic factor deficiency (ORPHA:332)
Gene: CBLIF
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INTRINSIC FACTOR DEFICIENCY (OMIM:261000)
Gene: CBLIF
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: INTRINSIC FACTOR DEFICIENCY (OMIM:261000)
Gene: CBLIF
Phenotype: Methylmalonic aciduria (HP:0012120)
Associated disease: Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency; Congenital pernicious anemia; IFD; Congenital intrinsic factor deficiency; Intrinsic factor deficiency; Gastric intrinsic factor deficiency (ORPHA:332)
Gene: CBLIF
Phenotype: Asthenia (HP:0025406)
Associated disease: Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency; Congenital pernicious anemia; IFD; Congenital intrinsic factor deficiency; Intrinsic factor deficiency; Gastric intrinsic factor deficiency (ORPHA:332)
Gene: CBLIF
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency; Congenital pernicious anemia; IFD; Congenital intrinsic factor deficiency; Intrinsic factor deficiency; Gastric intrinsic factor deficiency (ORPHA:332)
Gene: CBLIF
Phenotype: Decreased circulating vitamin B12 concentration (HP:0100502)
Associated disease: Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency; Congenital pernicious anemia; IFD; Congenital intrinsic factor deficiency; Intrinsic factor deficiency; Gastric intrinsic factor deficiency (ORPHA:332)
Gene: CBLIF
Phenotype: Decreased circulating vitamin B12 concentration (HP:0100502)
Associated disease: INTRINSIC FACTOR DEFICIENCY (OMIM:261000)
Gene: CBLIF
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: INTRINSIC FACTOR DEFICIENCY (OMIM:261000)
Gene: CBLIF
Phenotype: Hyperhomocystinemia (HP:0002160)
Associated disease: Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency; Congenital pernicious anemia; IFD; Congenital intrinsic factor deficiency; Intrinsic factor deficiency; Gastric intrinsic factor deficiency (ORPHA:332)
Gene: CBLIF
Phenotype: Paresthesia (HP:0003401)
Associated disease: Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency; Congenital pernicious anemia; IFD; Congenital intrinsic factor deficiency; Intrinsic factor deficiency; Gastric intrinsic factor deficiency (ORPHA:332)
Gene: CBLIF
Phenotype: Paresthesia (HP:0003401)
Associated disease: INTRINSIC FACTOR DEFICIENCY (OMIM:261000)
Gene: CBLIF
Phenotype: Megaloblastic erythroid hyperplasia (HP:0200143)
Associated disease: Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency; Congenital pernicious anemia; IFD; Congenital intrinsic factor deficiency; Intrinsic factor deficiency; Gastric intrinsic factor deficiency (ORPHA:332)
Gene: CBLIF
Phenotype: Megaloblastic erythroid hyperplasia (HP:0200143)
Associated disease: INTRINSIC FACTOR DEFICIENCY (OMIM:261000)
Gene: CBLIF
Phenotype: Malabsorption of Vitamin B12 (HP:0200118)
Associated disease: INTRINSIC FACTOR DEFICIENCY (OMIM:261000)
Gene: CBLIF
Phenotype: Anti-intrinsic factor antibody positivity (HP:6000344)
Associated disease: Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency; Congenital pernicious anemia; IFD; Congenital intrinsic factor deficiency; Intrinsic factor deficiency; Gastric intrinsic factor deficiency (ORPHA:332)
Gene: CBLIF
Phenotype: Headache (HP:0002315)
Associated disease: Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency; Congenital pernicious anemia; IFD; Congenital intrinsic factor deficiency; Intrinsic factor deficiency; Gastric intrinsic factor deficiency (ORPHA:332)
Gene: CBLIF
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency; Congenital pernicious anemia; IFD; Congenital intrinsic factor deficiency; Intrinsic factor deficiency; Gastric intrinsic factor deficiency (ORPHA:332)
Gene: CBLIF
Phenotype: Reduced haptoglobin level (HP:0020181)
Associated disease: INTRINSIC FACTOR DEFICIENCY (OMIM:261000)
Gene: CBLIF
Phenotype: Juvenile onset (HP:0003621)
Associated disease: INTRINSIC FACTOR DEFICIENCY (OMIM:261000)
Gene: CBLIF
Phenotype: Increased mean corpuscular volume (HP:0005518)
Associated disease: INTRINSIC FACTOR DEFICIENCY (OMIM:261000)
Gene: CBLIF
Phenotype: Atrophy of the spinal cord (HP:0006827)
Associated disease: Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency; Congenital pernicious anemia; IFD; Congenital intrinsic factor deficiency; Intrinsic factor deficiency; Gastric intrinsic factor deficiency (ORPHA:332)
Gene: CBLIF
Phenotype: Increased RBC distribution width (HP:0031965)
Associated disease: INTRINSIC FACTOR DEFICIENCY (OMIM:261000)
Gene: CBLIF
Phenotype: Dementia (HP:0000726)
Associated disease: Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency; Congenital pernicious anemia; IFD; Congenital intrinsic factor deficiency; Intrinsic factor deficiency; Gastric intrinsic factor deficiency (ORPHA:332)
Gene: CBLIF
Phenotype: Childhood onset (HP:0011463)
Associated disease: INTRINSIC FACTOR DEFICIENCY (OMIM:261000)
Gene: CBLIF
Phenotype: Growth delay (HP:0001510)
Associated disease: Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency; Congenital pernicious anemia; IFD; Congenital intrinsic factor deficiency; Intrinsic factor deficiency; Gastric intrinsic factor deficiency (ORPHA:332)
Gene: CBLIF
Phenotype: Absence of intrinsic factor (HP:0005219)
Associated disease: Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency; Congenital pernicious anemia; IFD; Congenital intrinsic factor deficiency; Intrinsic factor deficiency; Gastric intrinsic factor deficiency (ORPHA:332)
Gene: CBLIF
Phenotype: Absence of intrinsic factor (HP:0005219)
Associated disease: INTRINSIC FACTOR DEFICIENCY (OMIM:261000)
Gene: CBLIF
Phenotype: Methylmalonic acidemia (HP:0002912)
Associated disease: Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency; Congenital pernicious anemia; IFD; Congenital intrinsic factor deficiency; Intrinsic factor deficiency; Gastric intrinsic factor deficiency (ORPHA:332)
Gene: CBLIF
Phenotype: Megaloblastic anemia (HP:0001889)
Associated disease: Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency; Congenital pernicious anemia; IFD; Congenital intrinsic factor deficiency; Intrinsic factor deficiency; Gastric intrinsic factor deficiency (ORPHA:332)
Gene: CBLIF
Phenotype: Megaloblastic anemia (HP:0001889)
Associated disease: INTRINSIC FACTOR DEFICIENCY (OMIM:261000)
Gene: GJA1
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: ODDD syndrome; Oculodentodigitalis dysplasia; Oculo-dento-digital dysplasia; Oculodentodigital syndrome; Oculodentoosseous dysplasia; Meyer-Schwickerath-Weyers syndrome; ODOD syndrome; Osseous-oculo-dental dysplasia; Oculodentodigital dysplasia; Meyer-Schwickerath syndrome (ORPHA:2710)
Gene: GJA1
Phenotype: Unilateral deafness (HP:0009900)
Associated disease: Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia; Palmoplantar keratoderma and congenital alopecia, Stevanovic type; Autosomal dominant palmoplantar keratoderma and congenital alopecia; PPK-CA, Stevanovic type (ORPHA:1010)
Gene: GJA1
Phenotype: Tapered finger (HP:0001182)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJA1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: ODDD syndrome; Oculodentodigitalis dysplasia; Oculo-dento-digital dysplasia; Oculodentodigital syndrome; Oculodentoosseous dysplasia; Meyer-Schwickerath-Weyers syndrome; ODOD syndrome; Osseous-oculo-dental dysplasia; Oculodentodigital dysplasia; Meyer-Schwickerath syndrome (ORPHA:2710)
Gene: GJA1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJA1
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: ODDD syndrome; Oculodentodigitalis dysplasia; Oculo-dento-digital dysplasia; Oculodentodigital syndrome; Oculodentoosseous dysplasia; Meyer-Schwickerath-Weyers syndrome; ODOD syndrome; Osseous-oculo-dental dysplasia; Oculodentodigital dysplasia; Meyer-Schwickerath syndrome (ORPHA:2710)
Gene: GJA1
Phenotype: Hypergranulosis (HP:0025114)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3 (OMIM:617525)
Gene: GJA1
Phenotype: Meningocele (HP:0002435)
Associated disease: Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia; Palmoplantar keratoderma and congenital alopecia, Stevanovic type; Autosomal dominant palmoplantar keratoderma and congenital alopecia; PPK-CA, Stevanovic type (ORPHA:1010)
Gene: GJA1
Phenotype: Persistent pupillary membrane (HP:0009917)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Trichorrhexis nodosa (HP:0009886)
Associated disease: Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia; Palmoplantar keratoderma and congenital alopecia, Stevanovic type; Autosomal dominant palmoplantar keratoderma and congenital alopecia; PPK-CA, Stevanovic type (ORPHA:1010)
Gene: GJA1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GJA1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GJA1
Phenotype: Abnormal cranial nerve morphology (HP:0001291)
Associated disease: Craniometaphyseal dysplasia (ORPHA:1522)
Gene: GJA1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: ODDD syndrome; Oculodentodigitalis dysplasia; Oculo-dento-digital dysplasia; Oculodentodigital syndrome; Oculodentoosseous dysplasia; Meyer-Schwickerath-Weyers syndrome; ODOD syndrome; Osseous-oculo-dental dysplasia; Oculodentodigital dysplasia; Meyer-Schwickerath syndrome (ORPHA:2710)