TaoMedAI/RareMedData huggingface dataset:
Gene: IFIH1
Phenotype: Short stature (HP:0004322)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Short stature (HP:0004322)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Mitral valve calcification (HP:0004382)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Aortic valve calcification (HP:0004380)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFIH1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFIH1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Irritability (HP:0000737)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Irritability (HP:0000737)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Eruption failure (HP:0000706)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Childhood onset (HP:0011463)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Young adult onset (HP:0011462)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Fetal onset (HP:0011461)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Shallow acetabular fossae (HP:0003182)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFIH1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Hypertension (HP:0000822)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFIH1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFIH1
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Skin rash (HP:0000988)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Dry skin (HP:0000958)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Edema (HP:0000969)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Osteopenia (HP:0000938)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Degeneration of the striatum (HP:0040140)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Muscle fiber atrophy (HP:0100295)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Hypoplastic distal radial epiphyses (HP:0006386)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Microcephaly (HP:0000252)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: IMMUNODEFICIENCY 95 (OMIM:619773)
Gene: IFIH1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFIH1
Phenotype: Genu valgum (HP:0002857)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFIH1
Phenotype: Enchondroma (HP:0030038)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Hip subluxation (HP:0030043)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFIH1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFIH1
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFIH1
Phenotype: Broad forehead (HP:0000337)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Subvalvular aortic stenosis (HP:0001682)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFIH1
Phenotype: Aortic arch calcification (HP:0005303)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Panniculitis (HP:0012490)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Delayed myelination (HP:0012448)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Pes cavus (HP:0001761)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFIH1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Weight loss (HP:0001824)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Ptosis (HP:0000508)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Ptosis (HP:0000508)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Glaucoma (HP:0000501)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Onycholysis (HP:0001806)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Increased circulating interferon-gamma concentration (HP:0030356)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: IMMUNODEFICIENCY 95 (OMIM:619773)
Gene: IFIH1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFIH1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Pancytopenia (HP:0001876)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Myopia (HP:0000545)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: CARD9
Phenotype: Chronic tinea infection (HP:0032259)
Associated disease: CANDIDIASIS, FAMILIAL, 2 (OMIM:212050)
Gene: CARD9
Phenotype: Meningitis (HP:0001287)
Associated disease: CANDIDIASIS, FAMILIAL, 2 (OMIM:212050)
Gene: CARD9
Phenotype: Abnormal B cell count (HP:0010975)
Associated disease: CANDIDIASIS, FAMILIAL, 2 (OMIM:212050)
Gene: CARD9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CANDIDIASIS, FAMILIAL, 2 (OMIM:212050)
Gene: CARD9
Phenotype: Deep dermatophytosis (HP:0032515)
Associated disease: CANDIDIASIS, FAMILIAL, 2 (OMIM:212050)
Gene: CARD9
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: CANDIDIASIS, FAMILIAL, 2 (OMIM:212050)
Gene: CARD9
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: CANDIDIASIS, FAMILIAL, 2 (OMIM:212050)
Gene: CARD9
Phenotype: Decreased circulating iron concentration (HP:0040303)
Associated disease: CANDIDIASIS, FAMILIAL, 2 (OMIM:212050)
Gene: CARD9
Phenotype: Severely increased total eosinophil count (HP:0032061)
Associated disease: CANDIDIASIS, FAMILIAL, 2 (OMIM:212050)
Gene: CARD9
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CANDIDIASIS, FAMILIAL, 2 (OMIM:212050)
Gene: CARD9
Phenotype: Chronic oral candidiasis (HP:0009098)
Associated disease: CANDIDIASIS, FAMILIAL, 2 (OMIM:212050)
Gene: CARD9
Phenotype: Childhood onset (HP:0011463)
Associated disease: CANDIDIASIS, FAMILIAL, 2 (OMIM:212050)
Gene: CARD9
Phenotype: Abnormal total natural killer cell count (HP:0040089)
Associated disease: CANDIDIASIS, FAMILIAL, 2 (OMIM:212050)
Gene: CARD9
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: CANDIDIASIS, FAMILIAL, 2 (OMIM:212050)
Gene: CARD9
Phenotype: Phaeohyphomycosis (HP:6000031)
Associated disease: CANDIDIASIS, FAMILIAL, 2 (OMIM:212050)
Gene: CARD9
Phenotype: Abnormal CD4+ T cell subset proportion (HP:0031392)
Associated disease: CANDIDIASIS, FAMILIAL, 2 (OMIM:212050)
Gene: CARD9
Phenotype: Abnormal CD8+ T cell proportion (HP:0031393)
Associated disease: CANDIDIASIS, FAMILIAL, 2 (OMIM:212050)
Gene: CARD9
Phenotype: Onychomycosis (HP:0012203)
Associated disease: CANDIDIASIS, FAMILIAL, 2 (OMIM:212050)
Gene: CARD9
Phenotype: Early young adult onset (HP:0025708)
Associated disease: CANDIDIASIS, FAMILIAL, 2 (OMIM:212050)
Gene: CARD9
Phenotype: Abnormality of blood and blood-forming tissues (HP:0001871)
Associated disease: CANDIDIASIS, FAMILIAL, 2 (OMIM:212050)
Gene: P3H1
Phenotype: Type 1 collagen overmodification (HP:0003784)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VIII (OMIM:610915)
Gene: P3H1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: P3H1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: P3H1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P3H1
Phenotype: Hypotonia (HP:0001252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P3H1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P3H1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P3H1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P3H1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VIII (OMIM:610915)
Gene: P3H1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P3H1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: P3H1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VIII (OMIM:610915)
Gene: P3H1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P3H1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P3H1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VIII (OMIM:610915)
Gene: P3H1
Phenotype: J-shaped sella turcica (HP:0002680)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P3H1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: P3H1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P3H1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P3H1
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VIII (OMIM:610915)
Gene: P3H1
Phenotype: Decreased palmar creases (HP:0006184)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P3H1
Phenotype: Femoral retroversion (HP:0008796)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VIII (OMIM:610915)
Gene: P3H1
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P3H1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P3H1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: P3H1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P3H1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P3H1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VIII (OMIM:610915)
Gene: P3H1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: P3H1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: P3H1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)