TaoMedAI/RareMedData huggingface dataset:
Gene: RTEL1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Sparse hair (HP:0008070)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Alopecia (HP:0001596)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Short telomere length (HP:0031413)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 (OMIM:616373)
Gene: RTEL1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 (OMIM:615190)
Gene: RTEL1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: RTEL1
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: RTEL1
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: RTEL1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 (OMIM:615190)
Gene: RTEL1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: RTEL1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Fatigue (HP:0012378)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: RTEL1
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: RTEL1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Subpleural honeycombing (HP:0031631)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: RTEL1
Phenotype: Abnormal eyelash morphology (HP:0000499)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Blepharitis (HP:0000498)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Cellular immunodeficiency (HP:0005374)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Cataract (HP:0000518)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Abnormal leukocyte morphology (HP:0001881)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: RTEL1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 (OMIM:615190)
Gene: RTEL1
Phenotype: Abnormality of neutrophils (HP:0001874)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: RTEL1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: RTEL1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: ERAP1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Glomerulopathy (HP:0100820)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Meningitis (HP:0001287)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Confusion (HP:0001289)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Seizure (HP:0001250)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Ataxia (HP:0001251)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Glomerulonephritis (HP:0000099)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Arthritis (HP:0001369)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Epididymitis (HP:0000031)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Superficial thrombophlebitis (HP:0002638)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Vasculitis (HP:0002633)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Panuveitis (HP:0012121)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Malabsorption (HP:0002024)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Myalgia (HP:0003326)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Diarrhea (HP:0002014)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Migraine (HP:0002076)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Anorexia (HP:0002039)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Endocarditis (HP:0100584)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Pleuritis (HP:0002102)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Paresthesia (HP:0003401)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Pleural effusion (HP:0002202)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Pulmonary embolism (HP:0002204)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Orchitis (HP:0100796)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Gangrene (HP:0100758)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Infectious encephalitis (HP:0002383)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Acne (HP:0001061)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Developmental regression (HP:0002376)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Memory impairment (HP:0002354)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Vertigo (HP:0002321)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Headache (HP:0002315)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Optic neuritis (HP:0100653)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Retrobulbar optic neuritis (HP:0100654)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Papule (HP:0200034)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Myositis (HP:0100614)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Pustule (HP:0200039)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Non-infectious meningitis (HP:0033430)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: AA amyloidosis (HP:4000041)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Blindness (HP:0000618)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Photophobia (HP:0000613)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Fever (HP:0001945)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Recurrent fever (HP:0001954)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Increased inflammatory response (HP:0012649)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Irritability (HP:0000737)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Arterial thrombosis (HP:0004420)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Immunologic hypersensitivity (HP:0100326)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Myocarditis (HP:0012819)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Genital ulcers (HP:0003249)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Arthralgia (HP:0002829)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Positive pathergy test (HP:0025532)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Erythema nodosum (HP:0012219)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Nongranulomatous uveitis (HP:0007813)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Fatigue (HP:0012378)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Abnormal myocardium morphology (HP:0001637)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Pancreatitis (HP:0001733)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Pericarditis (HP:0001701)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Retinopathy (HP:0000488)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Recurrent aphthous stomatitis (HP:0011107)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Cataract (HP:0000518)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Weight loss (HP:0001824)
Associated disease: Behçet disease (ORPHA:117)
Gene: ERAP1
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: Behçet disease (ORPHA:117)
Gene: ATP8A2
Phenotype: Cerebellar ataxia associated with quadrupedal gait (HP:0009878)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 (OMIM:615268)
Gene: ATP8A2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 (OMIM:615268)
Gene: ATP8A2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: ATP8A2
Phenotype: Seizure (HP:0001250)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: ATP8A2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: ATP8A2
Phenotype: Ataxia (HP:0001251)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: ATP8A2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 (OMIM:615268)
Gene: ATP8A2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: ATP8A2
Phenotype: Dysarthria (HP:0001260)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 (OMIM:615268)
Gene: ATP8A2
Phenotype: Corpus callosum atrophy (HP:0007371)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 (OMIM:615268)
Gene: ATP8A2
Phenotype: Inability to walk (HP:0002540)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 (OMIM:615268)
Gene: ATP8A2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: ATP8A2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 (OMIM:615268)
Gene: ATP8A2
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 (OMIM:615268)
Gene: ATP8A2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 (OMIM:615268)
Gene: ATP8A2
Phenotype: Congenital onset (HP:0003577)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 (OMIM:615268)
Gene: ATP8A2
Phenotype: Short stature (HP:0004322)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: ATP8A2
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: ATP8A2
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: ATP8A2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: ATP8A2
Phenotype: Strabismus (HP:0000486)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: ATP8A2
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: ATP8A2
Phenotype: Cataract (HP:0000518)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: ATP8A2
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: INPP5K
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (OMIM:617404)
Gene: INPP5K
Phenotype: Motor delay (HP:0001270)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (OMIM:617404)
Gene: INPP5K
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (OMIM:617404)
Gene: INPP5K
Phenotype: Seizure (HP:0001250)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (OMIM:617404)
Gene: INPP5K
Phenotype: Hypotonia (HP:0001252)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (OMIM:617404)
Gene: INPP5K
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (OMIM:617404)
Gene: INPP5K
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (OMIM:617404)
Gene: INPP5K
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (OMIM:617404)
Gene: INPP5K
Phenotype: Scoliosis (HP:0002650)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (OMIM:617404)
Gene: INPP5K
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (OMIM:617404)
Gene: INPP5K
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (OMIM:617404)
Gene: INPP5K
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (OMIM:617404)
Gene: INPP5K
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (OMIM:617404)
Gene: INPP5K
Phenotype: Gowers sign (HP:0003391)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (OMIM:617404)
Gene: INPP5K
Phenotype: Infantile onset (HP:0003593)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (OMIM:617404)
Gene: INPP5K
Phenotype: Congenital onset (HP:0003577)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (OMIM:617404)
Gene: INPP5K
Phenotype: Progressive (HP:0003676)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (OMIM:617404)
Gene: INPP5K
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (OMIM:617404)
Gene: INPP5K
Phenotype: Short stature (HP:0004322)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (OMIM:617404)
Gene: INPP5K
Phenotype: Childhood onset (HP:0011463)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (OMIM:617404)
Gene: INPP5K
Phenotype: Increased adipose tissue (HP:0009126)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (OMIM:617404)
Gene: INPP5K
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (OMIM:617404)
Gene: INPP5K
Phenotype: Kyphosis (HP:0002808)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (OMIM:617404)
Gene: INPP5K
Phenotype: Microcephaly (HP:0000252)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (OMIM:617404)
Gene: INPP5K
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (OMIM:617404)
Gene: INPP5K
Phenotype: Strabismus (HP:0000486)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (OMIM:617404)
Gene: INPP5K
Phenotype: Cataract (HP:0000518)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (OMIM:617404)
Gene: MAP3K20
Phenotype: Split hand (HP:0001171)
Associated disease: SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY (OMIM:616890)
Gene: MAP3K20
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION (OMIM:617760)
Gene: MAP3K20
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: Split-foot malformation-mesoaxial polydactyly syndrome; Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome; SFMMP (ORPHA:488232)
Gene: MAP3K20
Phenotype: Poor head control (HP:0002421)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MAP3K20
Phenotype: Pelvic girdle muscle weakness (HP:0003749)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MAP3K20
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP3K20
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION (OMIM:617760)
Gene: MAP3K20
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)