TaoMedAI/RareMedData huggingface dataset:
Gene: LHX3
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome; Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome (ORPHA:231720)
Gene: LHX3
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX3
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX3
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX3
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX3
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX3
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX3
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX3
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Short stature (HP:0004322)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 3 (OMIM:221750)
Gene: LHX3
Phenotype: Short stature (HP:0004322)
Associated disease: Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome; Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome (ORPHA:231720)
Gene: LHX3
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX3
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX3
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Maternal autoimmune disease (HP:0011437)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Large posterior fontanelle (HP:0004491)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX3
Phenotype: Panhypopituitarism (HP:0000871)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Pituitary dwarfism (HP:0000839)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Pituitary dwarfism (HP:0000839)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 3 (OMIM:221750)
Gene: LHX3
Phenotype: Anterior hypopituitarism (HP:0000830)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 3 (OMIM:221750)
Gene: LHX3
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 3 (OMIM:221750)
Gene: LHX3
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome; Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome (ORPHA:231720)
Gene: LHX3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX3
Phenotype: Hypopituitarism (HP:0040075)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX3
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Short finger (HP:0009381)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Hypothalamic luteinizing hormone-releasing hormone deficiency (HP:0012287)
Associated disease: Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome; Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome (ORPHA:231720)
Gene: LHX3
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Facial edema (HP:0000282)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Overweight (HP:0025502)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX3
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Growth delay (HP:0001510)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX3
Phenotype: Decreased circulating T4 concentration (HP:0031507)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Fatigue (HP:0012378)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Decreased circulating ACTH concentration (HP:0002920)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX3
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX3
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Bradycardia (HP:0001662)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome; Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome (ORPHA:231720)
Gene: LHX3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 3 (OMIM:221750)
Gene: LHX3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Short neck (HP:0000470)
Associated disease: Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome; Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome (ORPHA:231720)
Gene: LHX3
Phenotype: Short neck (HP:0000470)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Short neck (HP:0000470)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 3 (OMIM:221750)
Gene: LHX3
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX3
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Decreased circulating luteinizing hormone level (HP:0030344)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Decreased circulating follicle stimulating hormone concentration (HP:0030341)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX3
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX3
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MLLT10
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Gene: MLLT10
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Gene: MLLT10
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Gene: CUBN
Phenotype: Abnormal blood 5-methyltetrahydrofolate level (HP:0410216)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: CUBN
Phenotype: Confusion (HP:0001289)
Associated disease: IMERSLUND-GRASBECK SYNDROME 1 (OMIM:261100)
Gene: CUBN
Phenotype: Hypotonia (HP:0001252)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: CUBN
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: PROTEINURIA, CHRONIC BENIGN (OMIM:618884)
Gene: CUBN
Phenotype: Proteinuria (HP:0000093)
Associated disease: IMERSLUND-GRASBECK SYNDROME 1 (OMIM:261100)
Gene: CUBN
Phenotype: Proteinuria (HP:0000093)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: CUBN
Phenotype: Proteinuria (HP:0000093)
Associated disease: PROTEINURIA, CHRONIC BENIGN (OMIM:618884)
Gene: CUBN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMERSLUND-GRASBECK SYNDROME 1 (OMIM:261100)
Gene: CUBN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PROTEINURIA, CHRONIC BENIGN (OMIM:618884)
Gene: CUBN
Phenotype: Oval macrocytosis (HP:0032566)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: CUBN
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: CUBN
Phenotype: Constipation (HP:0002019)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: CUBN
Phenotype: Vomiting (HP:0002013)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: CUBN
Phenotype: Decreased circulating vitamin B12 concentration (HP:0100502)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: CUBN
Phenotype: Decreased circulating vitamin B12 concentration (HP:0100502)
Associated disease: IMERSLUND-GRASBECK SYNDROME 1 (OMIM:261100)
Gene: CUBN
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: IMERSLUND-GRASBECK SYNDROME 1 (OMIM:261100)
Gene: CUBN
Phenotype: Paresthesia (HP:0003401)
Associated disease: IMERSLUND-GRASBECK SYNDROME 1 (OMIM:261100)
Gene: CUBN
Phenotype: Malabsorption of Vitamin B12 (HP:0200118)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: CUBN
Phenotype: Malabsorption of Vitamin B12 (HP:0200118)
Associated disease: IMERSLUND-GRASBECK SYNDROME 1 (OMIM:261100)
Gene: CUBN
Phenotype: Abnormal hemoglobin concentration (HP:0020061)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: CUBN
Phenotype: Anisopoikilocytosis (HP:0004823)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: CUBN
Phenotype: Hypersegmentation of neutrophil nuclei (HP:0004821)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: CUBN
Phenotype: Developmental regression (HP:0002376)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: CUBN
Phenotype: Macrocytic anemia (HP:0001972)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: CUBN
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: CUBN
Phenotype: Poor appetite (HP:0004396)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: CUBN
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: CUBN
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: CUBN
Phenotype: Dementia (HP:0000726)
Associated disease: IMERSLUND-GRASBECK SYNDROME 1 (OMIM:261100)
Gene: CUBN
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: CUBN
Phenotype: Childhood onset (HP:0011463)
Associated disease: IMERSLUND-GRASBECK SYNDROME 1 (OMIM:261100)
Gene: CUBN
Phenotype: Abnormal blood folate concentration (HP:0040087)
Associated disease: IMERSLUND-GRASBECK SYNDROME 1 (OMIM:261100)
Gene: CUBN
Phenotype: Pallor (HP:0000980)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: CUBN
Phenotype: Glossitis (HP:0000206)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: CUBN
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: CUBN
Phenotype: Microscopic hematuria (HP:0002907)
Associated disease: IMERSLUND-GRASBECK SYNDROME 1 (OMIM:261100)
Gene: CUBN
Phenotype: Tachycardia (HP:0001649)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: CUBN
Phenotype: Angular cheilitis (HP:0030318)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: CUBN
Phenotype: Weight loss (HP:0001824)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: CUBN
Phenotype: Albuminuria (HP:0012592)
Associated disease: PROTEINURIA, CHRONIC BENIGN (OMIM:618884)
Gene: CUBN
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: CUBN
Phenotype: Megaloblastic anemia (HP:0001889)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: CUBN
Phenotype: Megaloblastic anemia (HP:0001889)
Associated disease: IMERSLUND-GRASBECK SYNDROME 1 (OMIM:261100)
Gene: CUBN
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: CUBN
Phenotype: Pancytopenia (HP:0001876)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: CUBN
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: SHOC2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Noonan syndrome-like disorder with loose anagen hair; NS/LAH; Mazzanti syndrome (ORPHA:2701)
Gene: SHOC2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHOC2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHOC2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1 (OMIM:607721)
Gene: SHOC2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOC2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Noonan syndrome-like disorder with loose anagen hair; NS/LAH; Mazzanti syndrome (ORPHA:2701)
Gene: SHOC2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1 (OMIM:607721)
Gene: SHOC2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)