TaoMedAI/RareMedData huggingface dataset:
Gene: ISCA1
Phenotype: Spasticity (HP:0001257)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 (OMIM:617613)
Gene: ISCA1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 (OMIM:617613)
Gene: ISCA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 (OMIM:617613)
Gene: ISCA1
Phenotype: Pachygyria (HP:0001302)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 (OMIM:617613)
Gene: ISCA1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 (OMIM:617613)
Gene: ISCA1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 (OMIM:617613)
Gene: ISCA1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 (OMIM:617613)
Gene: ISCA1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 (OMIM:617613)
Gene: ISCA1
Phenotype: Developmental regression (HP:0002376)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 (OMIM:617613)
Gene: ISCA1
Phenotype: Progressive (HP:0003676)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 (OMIM:617613)
Gene: ISCA1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 (OMIM:617613)
Gene: ISCA1
Phenotype: Microcephaly (HP:0000252)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 (OMIM:617613)
Gene: ISCA1
Phenotype: Growth delay (HP:0001510)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 (OMIM:617613)
Gene: ISCA1
Phenotype: Strabismus (HP:0000486)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 (OMIM:617613)
Gene: ISCA1
Phenotype: Delayed myelination (HP:0012448)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 (OMIM:617613)
Gene: ISCA1
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 (OMIM:617613)
Gene: AMN
Phenotype: Abnormal blood 5-methyltetrahydrofolate level (HP:0410216)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: AMN
Phenotype: Hypotonia (HP:0001252)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: AMN
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: IMERSLUND-GRASBECK SYNDROME 2 (OMIM:618882)
Gene: AMN
Phenotype: Proteinuria (HP:0000093)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: AMN
Phenotype: Proteinuria (HP:0000093)
Associated disease: IMERSLUND-GRASBECK SYNDROME 2 (OMIM:618882)
Gene: AMN
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: IMERSLUND-GRASBECK SYNDROME 2 (OMIM:618882)
Gene: AMN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMERSLUND-GRASBECK SYNDROME 2 (OMIM:618882)
Gene: AMN
Phenotype: Oval macrocytosis (HP:0032566)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: AMN
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: AMN
Phenotype: Constipation (HP:0002019)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: AMN
Phenotype: Diarrhea (HP:0002014)
Associated disease: IMERSLUND-GRASBECK SYNDROME 2 (OMIM:618882)
Gene: AMN
Phenotype: Vomiting (HP:0002013)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: AMN
Phenotype: Decreased circulating vitamin B12 concentration (HP:0100502)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: AMN
Phenotype: Decreased circulating vitamin B12 concentration (HP:0100502)
Associated disease: IMERSLUND-GRASBECK SYNDROME 2 (OMIM:618882)
Gene: AMN
Phenotype: Malabsorption of Vitamin B12 (HP:0200118)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: AMN
Phenotype: Abnormal hemoglobin concentration (HP:0020061)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: AMN
Phenotype: Anisopoikilocytosis (HP:0004823)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: AMN
Phenotype: Hypersegmentation of neutrophil nuclei (HP:0004821)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: AMN
Phenotype: Developmental regression (HP:0002376)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: AMN
Phenotype: Lumbar kyphosis (HP:0008454)
Associated disease: IMERSLUND-GRASBECK SYNDROME 2 (OMIM:618882)
Gene: AMN
Phenotype: Macrocytic anemia (HP:0001972)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: AMN
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: AMN
Phenotype: Anemia (HP:0001903)
Associated disease: IMERSLUND-GRASBECK SYNDROME 2 (OMIM:618882)
Gene: AMN
Phenotype: Poor appetite (HP:0004396)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: AMN
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: AMN
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: AMN
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: AMN
Phenotype: Childhood onset (HP:0011463)
Associated disease: IMERSLUND-GRASBECK SYNDROME 2 (OMIM:618882)
Gene: AMN
Phenotype: Pallor (HP:0000980)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: AMN
Phenotype: Glossitis (HP:0000206)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: AMN
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: AMN
Phenotype: Growth delay (HP:0001510)
Associated disease: IMERSLUND-GRASBECK SYNDROME 2 (OMIM:618882)
Gene: AMN
Phenotype: Tachycardia (HP:0001649)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: AMN
Phenotype: Angular cheilitis (HP:0030318)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: AMN
Phenotype: Weight loss (HP:0001824)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: AMN
Phenotype: Moderate albuminuria (HP:0012594)
Associated disease: IMERSLUND-GRASBECK SYNDROME 2 (OMIM:618882)
Gene: AMN
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: AMN
Phenotype: Megaloblastic anemia (HP:0001889)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: AMN
Phenotype: Megaloblastic anemia (HP:0001889)
Associated disease: IMERSLUND-GRASBECK SYNDROME 2 (OMIM:618882)
Gene: AMN
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: AMN
Phenotype: Pancytopenia (HP:0001876)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: AMN
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Familial megaloblastic anemia; Imerslund-Gräsbeck syndrome; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Gene: DOCK8
Phenotype: Eosinophilic infiltration of the esophagus (HP:0410151)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: DOCK8
Phenotype: Decreased proportion of CD4-positive T cells (HP:0032218)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: DOCK8
Phenotype: Sepsis (HP:0100806)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: DOCK8
Phenotype: Anaphylactic shock (HP:0100845)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: DOCK8
Phenotype: Drug allergy (HP:0410323)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: DOCK8
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: DOCK8 immunodeficiency syndrome; Combined immunodeficiency due to DOCK8 deficiency; Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency; CID due to DOCK8 deficiency (ORPHA:217390)
Gene: DOCK8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: DOCK8
Phenotype: Food allergy (HP:0500093)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: DOCK8
Phenotype: Cutaneous abscess (HP:0031292)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: DOCK8
Phenotype: Pulmonary pneumatocele (HP:0025419)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: DOCK8
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: DOCK8
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: DOCK8
Phenotype: Sclerosing cholangitis (HP:0030991)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: DOCK8
Phenotype: Asthma (HP:0002099)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: DOCK8
Phenotype: Asthma (HP:0002099)
Associated disease: DOCK8 immunodeficiency syndrome; Combined immunodeficiency due to DOCK8 deficiency; Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency; CID due to DOCK8 deficiency (ORPHA:217390)
Gene: DOCK8
Phenotype: Pneumonia (HP:0002090)
Associated disease: DOCK8 immunodeficiency syndrome; Combined immunodeficiency due to DOCK8 deficiency; Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency; CID due to DOCK8 deficiency (ORPHA:217390)
Gene: DOCK8
Phenotype: Subarachnoid hemorrhage (HP:0002138)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: DOCK8
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: DOCK8
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: DOCK8
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: DOCK8
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: DOCK8 immunodeficiency syndrome; Combined immunodeficiency due to DOCK8 deficiency; Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency; CID due to DOCK8 deficiency (ORPHA:217390)
Gene: DOCK8
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: DOCK8
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: DOCK8 immunodeficiency syndrome; Combined immunodeficiency due to DOCK8 deficiency; Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency; CID due to DOCK8 deficiency (ORPHA:217390)
Gene: DOCK8
Phenotype: Verrucae (HP:0200043)
Associated disease: DOCK8 immunodeficiency syndrome; Combined immunodeficiency due to DOCK8 deficiency; Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency; CID due to DOCK8 deficiency (ORPHA:217390)
Gene: DOCK8
Phenotype: Skin ulcer (HP:0200042)
Associated disease: DOCK8 immunodeficiency syndrome; Combined immunodeficiency due to DOCK8 deficiency; Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency; CID due to DOCK8 deficiency (ORPHA:217390)
Gene: DOCK8
Phenotype: Molluscum contagiosum (HP:0032163)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: DOCK8
Phenotype: Disseminated molluscum contagiosum (HP:0032185)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: DOCK8
Phenotype: Hemiplegia (HP:0002301)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: DOCK8
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: DOCK8
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: DOCK8 immunodeficiency syndrome; Combined immunodeficiency due to DOCK8 deficiency; Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency; CID due to DOCK8 deficiency (ORPHA:217390)
Gene: DOCK8
Phenotype: Allergic rhinitis (HP:0003193)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: DOCK8
Phenotype: Increased circulating IgG concentration (HP:0003237)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: DOCK8
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: DOCK8
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: DOCK8 immunodeficiency syndrome; Combined immunodeficiency due to DOCK8 deficiency; Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency; CID due to DOCK8 deficiency (ORPHA:217390)
Gene: DOCK8
Phenotype: Reduced total natural killer cell count (HP:0040218)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: DOCK8
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: DOCK8
Phenotype: Onychomycosis (HP:0012203)
Associated disease: DOCK8 immunodeficiency syndrome; Combined immunodeficiency due to DOCK8 deficiency; Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency; CID due to DOCK8 deficiency (ORPHA:217390)
Gene: DOCK8
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: DOCK8
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: DOCK8 immunodeficiency syndrome; Combined immunodeficiency due to DOCK8 deficiency; Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency; CID due to DOCK8 deficiency (ORPHA:217390)
Gene: DOCK8
Phenotype: Failure to thrive (HP:0001508)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: DOCK8
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: DOCK8
Phenotype: Growth delay (HP:0001510)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: DOCK8
Phenotype: Recurrent fungal infections (HP:0002841)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: DOCK8
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: DOCK8 immunodeficiency syndrome; Combined immunodeficiency due to DOCK8 deficiency; Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency; CID due to DOCK8 deficiency (ORPHA:217390)
Gene: DOCK8
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: DOCK8
Phenotype: Autoimmunity (HP:0002960)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: DOCK8
Phenotype: Cerebral vasculitis (HP:0005318)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: DOCK8
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: DOCK8
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: DOCK8
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: DOCK8 immunodeficiency syndrome; Combined immunodeficiency due to DOCK8 deficiency; Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency; CID due to DOCK8 deficiency (ORPHA:217390)
Gene: DOCK8
Phenotype: Recurrent bacterial skin infections (HP:0005406)
Associated disease: DOCK8 immunodeficiency syndrome; Combined immunodeficiency due to DOCK8 deficiency; Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency; CID due to DOCK8 deficiency (ORPHA:217390)
Gene: DOCK8
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: DOCK8
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: DOCK8 immunodeficiency syndrome; Combined immunodeficiency due to DOCK8 deficiency; Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency; CID due to DOCK8 deficiency (ORPHA:217390)
Gene: DOCK8
Phenotype: Recurrent candida infections (HP:0005401)
Associated disease: DOCK8 immunodeficiency syndrome; Combined immunodeficiency due to DOCK8 deficiency; Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency; CID due to DOCK8 deficiency (ORPHA:217390)
Gene: DOCK8
Phenotype: Squamous cell carcinoma of the vulva (HP:0030417)
Associated disease: DOCK8 immunodeficiency syndrome; Combined immunodeficiency due to DOCK8 deficiency; Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency; CID due to DOCK8 deficiency (ORPHA:217390)
Gene: DOCK8
Phenotype: Anal canal squamous carcinoma (HP:0006763)
Associated disease: DOCK8 immunodeficiency syndrome; Combined immunodeficiency due to DOCK8 deficiency; Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency; CID due to DOCK8 deficiency (ORPHA:217390)
Gene: DOCK8
Phenotype: Severe viral infection (HP:0031691)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: DOCK8
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Gene: NUAK2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ANENCEPHALY 2 (OMIM:619452)
Gene: NUAK2
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: ANENCEPHALY 2 (OMIM:619452)
Gene: NUAK2
Phenotype: Bifid nose (HP:0011803)
Associated disease: ANENCEPHALY 2 (OMIM:619452)
Gene: NUAK2
Phenotype: Congenital onset (HP:0003577)
Associated disease: ANENCEPHALY 2 (OMIM:619452)
Gene: NUAK2
Phenotype: Anencephaly (HP:0002323)
Associated disease: ANENCEPHALY 2 (OMIM:619452)
Gene: NUAK2
Phenotype: Median cleft palate (HP:0009099)
Associated disease: ANENCEPHALY 2 (OMIM:619452)
Gene: NUAK2
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: ANENCEPHALY 2 (OMIM:619452)
Gene: NUAK2
Phenotype: Cleft maxillary alveolar ridge (HP:0010289)
Associated disease: ANENCEPHALY 2 (OMIM:619452)
Gene: NUAK2
Phenotype: Anophthalmia (HP:0000528)
Associated disease: ANENCEPHALY 2 (OMIM:619452)
Gene: RNF170
Phenotype: Saccadic smooth pursuit (HP:0001152)
Associated disease: SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE (OMIM:619686)
Gene: RNF170
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE (OMIM:619686)
Gene: RNF170
Phenotype: Sensory ataxia (HP:0010871)
Associated disease: ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT (OMIM:608984)
Gene: RNF170
Phenotype: Positive Romberg sign (HP:0002403)
Associated disease: ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT (OMIM:608984)
Gene: RNF170
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE (OMIM:619686)
Gene: RNF170
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE (OMIM:619686)
Gene: RNF170
Phenotype: Motor delay (HP:0001270)
Associated disease: SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE (OMIM:619686)
Gene: RNF170
Phenotype: Gait disturbance (HP:0001288)
Associated disease: ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT (OMIM:608984)
Gene: RNF170
Phenotype: Areflexia (HP:0001284)
Associated disease: ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT (OMIM:608984)
Gene: RNF170
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT (OMIM:608984)
Gene: RNF170
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE (OMIM:619686)
Gene: RNF170
Phenotype: Dysarthria (HP:0001260)
Associated disease: ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT (OMIM:608984)
Gene: RNF170
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE (OMIM:619686)
Gene: RNF170
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE (OMIM:619686)
Gene: RNF170
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE (OMIM:619686)
Gene: RNF170
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE (OMIM:619686)
Gene: RNF170
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE (OMIM:619686)
Gene: RNF170
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT (OMIM:608984)