TaoMedAI/RareMedData huggingface dataset:
Gene: IFNGR1
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Pleural effusion (HP:0002202)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Pulmonary embolism (HP:0002204)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Orchitis (HP:0100796)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Histiocytosis (HP:0100727)
Associated disease: IMMUNODEFICIENCY 27A (OMIM:209950)
Gene: IFNGR1
Phenotype: Gangrene (HP:0100758)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Infectious encephalitis (HP:0002383)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Acne (HP:0001061)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Developmental regression (HP:0002376)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Memory impairment (HP:0002354)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Vertigo (HP:0002321)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Headache (HP:0002315)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Optic neuritis (HP:0100653)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Retrobulbar optic neuritis (HP:0100654)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Papule (HP:0200034)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Myositis (HP:0100614)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Enlarged mesenteric lymph node (HP:0025043)
Associated disease: IMMUNODEFICIENCY 27A (OMIM:209950)
Gene: IFNGR1
Phenotype: Pustule (HP:0200039)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Non-infectious meningitis (HP:0033430)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: AA amyloidosis (HP:4000041)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: IMMUNODEFICIENCY 27A (OMIM:209950)
Gene: IFNGR1
Phenotype: Blindness (HP:0000618)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Photophobia (HP:0000613)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Fever (HP:0001945)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Fever (HP:0001945)
Associated disease: IMMUNODEFICIENCY 27A (OMIM:209950)
Gene: IFNGR1
Phenotype: Recurrent fever (HP:0001954)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Anemia (HP:0001903)
Associated disease: IMMUNODEFICIENCY 27A (OMIM:209950)
Gene: IFNGR1
Phenotype: Increased inflammatory response (HP:0012649)
Associated disease: IMMUNODEFICIENCY 27A (OMIM:209950)
Gene: IFNGR1
Phenotype: Increased inflammatory response (HP:0012649)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Salmonella osteomyelitis (HP:0005661)
Associated disease: IMMUNODEFICIENCY 27A (OMIM:209950)
Gene: IFNGR1
Phenotype: Salmonella osteomyelitis (HP:0005661)
Associated disease: IMMUNODEFICIENCY 27B (OMIM:615978)
Gene: IFNGR1
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: IMMUNODEFICIENCY 27A (OMIM:209950)
Gene: IFNGR1
Phenotype: Irritability (HP:0000737)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Arterial thrombosis (HP:0004420)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Immunologic hypersensitivity (HP:0100326)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Myocarditis (HP:0012819)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Increased circulating IgG concentration (HP:0003237)
Associated disease: IMMUNODEFICIENCY 27A (OMIM:209950)
Gene: IFNGR1
Phenotype: Genital ulcers (HP:0003249)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Arthralgia (HP:0002829)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Positive pathergy test (HP:0025532)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Erythema nodosum (HP:0012219)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Nongranulomatous uveitis (HP:0007813)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Fatigue (HP:0012378)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Helicobacter pylori infection (HP:0005202)
Associated disease: HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO (OMIM:600263)
Gene: IFNGR1
Phenotype: Rheumatoid factor positive (HP:0002923)
Associated disease: IMMUNODEFICIENCY 27A (OMIM:209950)
Gene: IFNGR1
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Night sweats (HP:0030166)
Associated disease: IMMUNODEFICIENCY 27A (OMIM:209950)
Gene: IFNGR1
Phenotype: Abnormal myocardium morphology (HP:0001637)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Pancreatitis (HP:0001733)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Pericarditis (HP:0001701)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Retinopathy (HP:0000488)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Recurrent aphthous stomatitis (HP:0011107)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: IMMUNODEFICIENCY 27A (OMIM:209950)
Gene: IFNGR1
Phenotype: Recurrent mycobacterium avium complex infections (HP:0011275)
Associated disease: IMMUNODEFICIENCY 27B (OMIM:615978)
Gene: IFNGR1
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: IMMUNODEFICIENCY 27B (OMIM:615978)
Gene: IFNGR1
Phenotype: Cataract (HP:0000518)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Weight loss (HP:0001824)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Weight loss (HP:0001824)
Associated disease: IMMUNODEFICIENCY 27A (OMIM:209950)
Gene: IFNGR1
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: Behçet disease (ORPHA:117)
Gene: IFNGR1
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: IMMUNODEFICIENCY 27A (OMIM:209950)
Gene: IFNGR2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 28 (OMIM:614889)
Gene: IFNGR2
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 28 (OMIM:614889)
Gene: IFNGR2
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: IMMUNODEFICIENCY 28 (OMIM:614889)
Gene: IFRD1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Spinocerebellar ataxia type 18; SCA18 (ORPHA:98771)
Gene: IFRD1
Phenotype: Areflexia (HP:0001284)
Associated disease: Spinocerebellar ataxia type 18; SCA18 (ORPHA:98771)
Gene: IFRD1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Spinocerebellar ataxia type 18; SCA18 (ORPHA:98771)
Gene: IFRD1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Spinocerebellar ataxia type 18; SCA18 (ORPHA:98771)
Gene: IFRD1
Phenotype: Dysmetria (HP:0001310)
Associated disease: Spinocerebellar ataxia type 18; SCA18 (ORPHA:98771)
Gene: IFRD1
Phenotype: Hyporeflexia of lower limbs (HP:0002600)
Associated disease: Spinocerebellar ataxia type 18; SCA18 (ORPHA:98771)
Gene: IFRD1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Spinocerebellar ataxia type 18; SCA18 (ORPHA:98771)
Gene: IFRD1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Spinocerebellar ataxia type 18; SCA18 (ORPHA:98771)
Gene: IFRD1
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: Spinocerebellar ataxia type 18; SCA18 (ORPHA:98771)
Gene: IFRD1
Phenotype: Muscle fibrillation (HP:0010546)
Associated disease: Spinocerebellar ataxia type 18; SCA18 (ORPHA:98771)
Gene: IFRD1
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: Spinocerebellar ataxia type 18; SCA18 (ORPHA:98771)
Gene: IFRD1
Phenotype: Head tremor (HP:0002346)
Associated disease: Spinocerebellar ataxia type 18; SCA18 (ORPHA:98771)
Gene: IFRD1
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: Spinocerebellar ataxia type 18; SCA18 (ORPHA:98771)
Gene: IFRD1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Spinocerebellar ataxia type 18; SCA18 (ORPHA:98771)
Gene: IFRD1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Spinocerebellar ataxia type 18; SCA18 (ORPHA:98771)
Gene: IFRD1
Phenotype: Titubation (HP:0030187)
Associated disease: Spinocerebellar ataxia type 18; SCA18 (ORPHA:98771)
Gene: IFRD1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Spinocerebellar ataxia type 18; SCA18 (ORPHA:98771)
Gene: IFRD1
Phenotype: Pes cavus (HP:0001761)
Associated disease: Spinocerebellar ataxia type 18; SCA18 (ORPHA:98771)
Gene: IGBP1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA (OMIM:300472)
Gene: IGBP1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Graham-Cox syndrome; Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome (ORPHA:52055)
Gene: IGBP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Graham-Cox syndrome; Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome (ORPHA:52055)
Gene: IGBP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA (OMIM:300472)
Gene: IGBP1
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA (OMIM:300472)
Gene: IGBP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Graham-Cox syndrome; Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome (ORPHA:52055)
Gene: IGBP1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA (OMIM:300472)
Gene: IGBP1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Graham-Cox syndrome; Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome (ORPHA:52055)
Gene: IGBP1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA (OMIM:300472)
Gene: IGBP1
Phenotype: Recurrent aspiration pneumonia (HP:0002100)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA (OMIM:300472)
Gene: IGBP1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA (OMIM:300472)
Gene: IGBP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Graham-Cox syndrome; Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome (ORPHA:52055)
Gene: IGBP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA (OMIM:300472)
Gene: IGBP1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA (OMIM:300472)
Gene: IGBP1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Graham-Cox syndrome; Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome (ORPHA:52055)
Gene: IGBP1
Phenotype: Short stature (HP:0004322)
Associated disease: Graham-Cox syndrome; Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome (ORPHA:52055)
Gene: IGBP1
Phenotype: Short stature (HP:0004322)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA (OMIM:300472)
Gene: IGBP1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Graham-Cox syndrome; Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome (ORPHA:52055)
Gene: IGBP1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA (OMIM:300472)
Gene: IGBP1
Phenotype: Retrognathia (HP:0000278)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA (OMIM:300472)
Gene: IGBP1
Phenotype: Retrognathia (HP:0000278)
Associated disease: Graham-Cox syndrome; Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome (ORPHA:52055)
Gene: IGBP1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Graham-Cox syndrome; Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome (ORPHA:52055)
Gene: IGBP1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA (OMIM:300472)
Gene: IGBP1
Phenotype: High palate (HP:0000218)
Associated disease: Graham-Cox syndrome; Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome (ORPHA:52055)
Gene: IGBP1
Phenotype: High palate (HP:0000218)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA (OMIM:300472)
Gene: IGBP1
Phenotype: Cupped ear (HP:0000378)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA (OMIM:300472)
Gene: IGBP1
Phenotype: Cupped ear (HP:0000378)
Associated disease: Graham-Cox syndrome; Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome (ORPHA:52055)
Gene: IGBP1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Graham-Cox syndrome; Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome (ORPHA:52055)
Gene: IGBP1
Phenotype: Lop ear (HP:0000394)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA (OMIM:300472)
Gene: IGBP1
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA (OMIM:300472)
Gene: IGBP1
Phenotype: Thoracolumbar scoliosis (HP:0002944)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA (OMIM:300472)
Gene: IGBP1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Graham-Cox syndrome; Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome (ORPHA:52055)
Gene: IGBP1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Graham-Cox syndrome; Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome (ORPHA:52055)
Gene: IGBP1
Phenotype: Low-set ears (HP:0000369)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA (OMIM:300472)
Gene: IGBP1
Phenotype: Broad forehead (HP:0000337)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA (OMIM:300472)
Gene: IGBP1
Phenotype: High forehead (HP:0000348)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA (OMIM:300472)
Gene: IGBP1
Phenotype: High forehead (HP:0000348)
Associated disease: Graham-Cox syndrome; Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome (ORPHA:52055)
Gene: IGBP1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Graham-Cox syndrome; Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome (ORPHA:52055)
Gene: IGBP1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA (OMIM:300472)
Gene: IGBP1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Graham-Cox syndrome; Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome (ORPHA:52055)
Gene: IGBP1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA (OMIM:300472)
Gene: IGBP1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Graham-Cox syndrome; Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome (ORPHA:52055)
Gene: IGBP1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA (OMIM:300472)
Gene: IGBP1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Graham-Cox syndrome; Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome (ORPHA:52055)
Gene: IGBP1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA (OMIM:300472)
Gene: IGBP1
Phenotype: Chronic constipation (HP:0012450)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA (OMIM:300472)
Gene: IGBP1
Phenotype: Broad neck (HP:0000475)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA (OMIM:300472)
Gene: IGBP1
Phenotype: Short neck (HP:0000470)
Associated disease: Graham-Cox syndrome; Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome (ORPHA:52055)
Gene: IGBP1
Phenotype: Short neck (HP:0000470)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA (OMIM:300472)
Gene: IGBP1
Phenotype: Choanal atresia (HP:0000453)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA (OMIM:300472)
Gene: IGBP1
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Graham-Cox syndrome; Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome (ORPHA:52055)
Gene: IGBP1
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA (OMIM:300472)
Gene: IGBP1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA (OMIM:300472)
Gene: IGBP1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Graham-Cox syndrome; Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome (ORPHA:52055)
Gene: IGBP1
Phenotype: Visual impairment (HP:0000505)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA (OMIM:300472)
Gene: IGBP1
Phenotype: Optic disc coloboma (HP:0000588)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA (OMIM:300472)
Gene: IGBP1
Phenotype: Optic disc coloboma (HP:0000588)
Associated disease: Graham-Cox syndrome; Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome (ORPHA:52055)
Gene: IGF1
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: Growth delay due to insulin-like growth factor type 1 deficiency; Growth delay-deafness-intellectual disability syndrome; Growth delay-hearing loss-intellectual disability syndrome; IGF-1 deficiency; Primary insulin-like growth factor deficiency (ORPHA:73272)
Gene: IGF1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGF1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGF1
Phenotype: Motor delay (HP:0001270)
Associated disease: Growth delay due to insulin-like growth factor type 1 deficiency; Growth delay-deafness-intellectual disability syndrome; Growth delay-hearing loss-intellectual disability syndrome; IGF-1 deficiency; Primary insulin-like growth factor deficiency (ORPHA:73272)
Gene: IGF1
Phenotype: Motor delay (HP:0001270)
Associated disease: INSULIN-LIKE GROWTH FACTOR I DEFICIENCY (OMIM:608747)
Gene: IGF1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Growth delay due to insulin-like growth factor type 1 deficiency; Growth delay-deafness-intellectual disability syndrome; Growth delay-hearing loss-intellectual disability syndrome; IGF-1 deficiency; Primary insulin-like growth factor deficiency (ORPHA:73272)
Gene: IGF1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Growth delay due to insulin-like growth factor type 1 deficiency; Growth delay-deafness-intellectual disability syndrome; Growth delay-hearing loss-intellectual disability syndrome; IGF-1 deficiency; Primary insulin-like growth factor deficiency (ORPHA:73272)
Gene: IGF1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INSULIN-LIKE GROWTH FACTOR I DEFICIENCY (OMIM:608747)
Gene: IGF1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGF1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGF1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Growth delay due to insulin-like growth factor type 1 deficiency; Growth delay-deafness-intellectual disability syndrome; Growth delay-hearing loss-intellectual disability syndrome; IGF-1 deficiency; Primary insulin-like growth factor deficiency (ORPHA:73272)
Gene: IGF1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: INSULIN-LIKE GROWTH FACTOR I DEFICIENCY (OMIM:608747)
Gene: IGF1
Phenotype: Severe postnatal growth retardation (HP:0008850)
Associated disease: Growth delay due to insulin-like growth factor type 1 deficiency; Growth delay-deafness-intellectual disability syndrome; Growth delay-hearing loss-intellectual disability syndrome; IGF-1 deficiency; Primary insulin-like growth factor deficiency (ORPHA:73272)
Gene: IGF1
Phenotype: Severe intrauterine growth retardation (HP:0008846)
Associated disease: Growth delay due to insulin-like growth factor type 1 deficiency; Growth delay-deafness-intellectual disability syndrome; Growth delay-hearing loss-intellectual disability syndrome; IGF-1 deficiency; Primary insulin-like growth factor deficiency (ORPHA:73272)
Gene: IGF1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IGF1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IGF1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)