TaoMedAI/RareMedData huggingface dataset:
Gene: HPRT1
Phenotype: Spasticity (HP:0001257)
Associated disease: LESCH-NYHAN SYNDROME (OMIM:300322)
Gene: HPRT1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: HYPERURICEMIA, HPRT-RELATED (OMIM:300323)
Gene: HPRT1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency; Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I; HPRT partial deficiency; HPRT-related gout; Kelley-Seegmiller syndrome; HPRT1 partial deficiency; HPRT deficiency, grade I; Hypoxanthine guanine phosphoribosyltransferase partial deficiency; HPRT-related hyperuricemia (ORPHA:79233)
Gene: HPRT1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: HPRT complete deficiency; HPRT deficiency grade IV; Lesch-Nyhan syndrome; Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV; Hypoxanthine guanine phosphoribosyltransferase complete deficiency (ORPHA:510)
Gene: HPRT1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: LESCH-NYHAN SYNDROME (OMIM:300322)
Gene: HPRT1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency; Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I; HPRT partial deficiency; HPRT-related gout; Kelley-Seegmiller syndrome; HPRT1 partial deficiency; HPRT deficiency, grade I; Hypoxanthine guanine phosphoribosyltransferase partial deficiency; HPRT-related hyperuricemia (ORPHA:79233)
Gene: HPRT1
Phenotype: Testicular atrophy (HP:0000029)
Associated disease: LESCH-NYHAN SYNDROME (OMIM:300322)
Gene: HPRT1
Phenotype: Dystonia (HP:0001332)
Associated disease: LESCH-NYHAN SYNDROME (OMIM:300322)
Gene: HPRT1
Phenotype: Dystonia (HP:0001332)
Associated disease: Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency; Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I; HPRT partial deficiency; HPRT-related gout; Kelley-Seegmiller syndrome; HPRT1 partial deficiency; HPRT deficiency, grade I; Hypoxanthine guanine phosphoribosyltransferase partial deficiency; HPRT-related hyperuricemia (ORPHA:79233)
Gene: HPRT1
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: LESCH-NYHAN SYNDROME (OMIM:300322)
Gene: HPRT1
Phenotype: Nephropathy (HP:0000112)
Associated disease: Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency; Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I; HPRT partial deficiency; HPRT-related gout; Kelley-Seegmiller syndrome; HPRT1 partial deficiency; HPRT deficiency, grade I; Hypoxanthine guanine phosphoribosyltransferase partial deficiency; HPRT-related hyperuricemia (ORPHA:79233)
Gene: HPRT1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: LESCH-NYHAN SYNDROME (OMIM:300322)
Gene: HPRT1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: HYPERURICEMIA, HPRT-RELATED (OMIM:300323)
Gene: HPRT1
Phenotype: Dysphagia (HP:0002015)
Associated disease: LESCH-NYHAN SYNDROME (OMIM:300322)
Gene: HPRT1
Phenotype: Vomiting (HP:0002013)
Associated disease: LESCH-NYHAN SYNDROME (OMIM:300322)
Gene: HPRT1
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency; Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I; HPRT partial deficiency; HPRT-related gout; Kelley-Seegmiller syndrome; HPRT1 partial deficiency; HPRT deficiency, grade I; Hypoxanthine guanine phosphoribosyltransferase partial deficiency; HPRT-related hyperuricemia (ORPHA:79233)
Gene: HPRT1
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: LESCH-NYHAN SYNDROME (OMIM:300322)
Gene: HPRT1
Phenotype: Dysuria (HP:0100518)
Associated disease: Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency; Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I; HPRT partial deficiency; HPRT-related gout; Kelley-Seegmiller syndrome; HPRT1 partial deficiency; HPRT deficiency, grade I; Hypoxanthine guanine phosphoribosyltransferase partial deficiency; HPRT-related hyperuricemia (ORPHA:79233)
Gene: HPRT1
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: HPRT complete deficiency; HPRT deficiency grade IV; Lesch-Nyhan syndrome; Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV; Hypoxanthine guanine phosphoribosyltransferase complete deficiency (ORPHA:510)
Gene: HPRT1
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: LESCH-NYHAN SYNDROME (OMIM:300322)
Gene: HPRT1
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: HYPERURICEMIA, HPRT-RELATED (OMIM:300323)
Gene: HPRT1
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency; Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I; HPRT partial deficiency; HPRT-related gout; Kelley-Seegmiller syndrome; HPRT1 partial deficiency; HPRT deficiency, grade I; Hypoxanthine guanine phosphoribosyltransferase partial deficiency; HPRT-related hyperuricemia (ORPHA:79233)
Gene: HPRT1
Phenotype: Opisthotonus (HP:0002179)
Associated disease: LESCH-NYHAN SYNDROME (OMIM:300322)
Gene: HPRT1
Phenotype: Infantile onset (HP:0003593)
Associated disease: LESCH-NYHAN SYNDROME (OMIM:300322)
Gene: HPRT1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: LESCH-NYHAN SYNDROME (OMIM:300322)
Gene: HPRT1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: HPRT complete deficiency; HPRT deficiency grade IV; Lesch-Nyhan syndrome; Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV; Hypoxanthine guanine phosphoribosyltransferase complete deficiency (ORPHA:510)
Gene: HPRT1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: LESCH-NYHAN SYNDROME (OMIM:300322)
Gene: HPRT1
Phenotype: Anemia (HP:0001903)
Associated disease: HPRT complete deficiency; HPRT deficiency grade IV; Lesch-Nyhan syndrome; Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV; Hypoxanthine guanine phosphoribosyltransferase complete deficiency (ORPHA:510)
Gene: HPRT1
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency; Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I; HPRT partial deficiency; HPRT-related gout; Kelley-Seegmiller syndrome; HPRT1 partial deficiency; HPRT deficiency, grade I; Hypoxanthine guanine phosphoribosyltransferase partial deficiency; HPRT-related hyperuricemia (ORPHA:79233)
Gene: HPRT1
Phenotype: Gout (HP:0001997)
Associated disease: HPRT complete deficiency; HPRT deficiency grade IV; Lesch-Nyhan syndrome; Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV; Hypoxanthine guanine phosphoribosyltransferase complete deficiency (ORPHA:510)
Gene: HPRT1
Phenotype: Gout (HP:0001997)
Associated disease: Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency; Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I; HPRT partial deficiency; HPRT-related gout; Kelley-Seegmiller syndrome; HPRT1 partial deficiency; HPRT deficiency, grade I; Hypoxanthine guanine phosphoribosyltransferase partial deficiency; HPRT-related hyperuricemia (ORPHA:79233)
Gene: HPRT1
Phenotype: Short stature (HP:0004322)
Associated disease: LESCH-NYHAN SYNDROME (OMIM:300322)
Gene: HPRT1
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: HPRT complete deficiency; HPRT deficiency grade IV; Lesch-Nyhan syndrome; Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV; Hypoxanthine guanine phosphoribosyltransferase complete deficiency (ORPHA:510)
Gene: HPRT1
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: HPRT complete deficiency; HPRT deficiency grade IV; Lesch-Nyhan syndrome; Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV; Hypoxanthine guanine phosphoribosyltransferase complete deficiency (ORPHA:510)
Gene: HPRT1
Phenotype: Self-mutilation (HP:0000742)
Associated disease: Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency; Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I; HPRT partial deficiency; HPRT-related gout; Kelley-Seegmiller syndrome; HPRT1 partial deficiency; HPRT deficiency, grade I; Hypoxanthine guanine phosphoribosyltransferase partial deficiency; HPRT-related hyperuricemia (ORPHA:79233)
Gene: HPRT1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: HPRT complete deficiency; HPRT deficiency grade IV; Lesch-Nyhan syndrome; Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV; Hypoxanthine guanine phosphoribosyltransferase complete deficiency (ORPHA:510)
Gene: HPRT1
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency; Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I; HPRT partial deficiency; HPRT-related gout; Kelley-Seegmiller syndrome; HPRT1 partial deficiency; HPRT deficiency, grade I; Hypoxanthine guanine phosphoribosyltransferase partial deficiency; HPRT-related hyperuricemia (ORPHA:79233)
Gene: HPRT1
Phenotype: Childhood onset (HP:0011463)
Associated disease: LESCH-NYHAN SYNDROME (OMIM:300322)
Gene: HPRT1
Phenotype: Young adult onset (HP:0011462)
Associated disease: LESCH-NYHAN SYNDROME (OMIM:300322)
Gene: HPRT1
Phenotype: Uric acid nephrolithiasis (HP:0000791)
Associated disease: Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency; Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I; HPRT partial deficiency; HPRT-related gout; Kelley-Seegmiller syndrome; HPRT1 partial deficiency; HPRT deficiency, grade I; Hypoxanthine guanine phosphoribosyltransferase partial deficiency; HPRT-related hyperuricemia (ORPHA:79233)
Gene: HPRT1
Phenotype: Hematuria (HP:0000790)
Associated disease: HPRT complete deficiency; HPRT deficiency grade IV; Lesch-Nyhan syndrome; Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV; Hypoxanthine guanine phosphoribosyltransferase complete deficiency (ORPHA:510)
Gene: HPRT1
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: LESCH-NYHAN SYNDROME (OMIM:300322)
Gene: HPRT1
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: HYPERURICEMIA, HPRT-RELATED (OMIM:300323)
Gene: HPRT1
Phenotype: Hyperuricosuria (HP:0003149)
Associated disease: LESCH-NYHAN SYNDROME (OMIM:300322)
Gene: HPRT1
Phenotype: Hyperuricosuria (HP:0003149)
Associated disease: HYPERURICEMIA, HPRT-RELATED (OMIM:300323)
Gene: HPRT1
Phenotype: Hyperuricosuria (HP:0003149)
Associated disease: Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency; Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I; HPRT partial deficiency; HPRT-related gout; Kelley-Seegmiller syndrome; HPRT1 partial deficiency; HPRT deficiency, grade I; Hypoxanthine guanine phosphoribosyltransferase partial deficiency; HPRT-related hyperuricemia (ORPHA:79233)
Gene: HPRT1
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency; Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I; HPRT partial deficiency; HPRT-related gout; Kelley-Seegmiller syndrome; HPRT1 partial deficiency; HPRT deficiency, grade I; Hypoxanthine guanine phosphoribosyltransferase partial deficiency; HPRT-related hyperuricemia (ORPHA:79233)
Gene: HPRT1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: LESCH-NYHAN SYNDROME (OMIM:300322)
Gene: HPRT1
Phenotype: Podagra (HP:0001854)
Associated disease: LESCH-NYHAN SYNDROME (OMIM:300322)
Gene: HPRT1
Phenotype: Podagra (HP:0001854)
Associated disease: HYPERURICEMIA, HPRT-RELATED (OMIM:300323)
Gene: HPRT1
Phenotype: Macroscopic hematuria (HP:0012587)
Associated disease: Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency; Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I; HPRT partial deficiency; HPRT-related gout; Kelley-Seegmiller syndrome; HPRT1 partial deficiency; HPRT deficiency, grade I; Hypoxanthine guanine phosphoribosyltransferase partial deficiency; HPRT-related hyperuricemia (ORPHA:79233)
Gene: HPRT1
Phenotype: Megaloblastic anemia (HP:0001889)
Associated disease: LESCH-NYHAN SYNDROME (OMIM:300322)
Gene: HPS1
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: HERMANSKY-PUDLAK SYNDROME 1 (OMIM:203300)
Gene: HPS1
Phenotype: Ocular albinism (HP:0001107)
Associated disease: HERMANSKY-PUDLAK SYNDROME 1 (OMIM:203300)
Gene: HPS1
Phenotype: Colitis (HP:0002583)
Associated disease: HERMANSKY-PUDLAK SYNDROME 1 (OMIM:203300)
Gene: HPS1
Phenotype: Hematochezia (HP:0002573)
Associated disease: HERMANSKY-PUDLAK SYNDROME 1 (OMIM:203300)
Gene: HPS1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: HERMANSKY-PUDLAK SYNDROME 1 (OMIM:203300)
Gene: HPS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HERMANSKY-PUDLAK SYNDROME 1 (OMIM:203300)
Gene: HPS1
Phenotype: Freckles in sun-exposed areas (HP:0007603)
Associated disease: HERMANSKY-PUDLAK SYNDROME 1 (OMIM:203300)
Gene: HPS1
Phenotype: Freckling (HP:0001480)
Associated disease: HERMANSKY-PUDLAK SYNDROME 1 (OMIM:203300)
Gene: HPS1
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: HERMANSKY-PUDLAK SYNDROME 1 (OMIM:203300)
Gene: HPS1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: HERMANSKY-PUDLAK SYNDROME 1 (OMIM:203300)
Gene: HPS1
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: HERMANSKY-PUDLAK SYNDROME 1 (OMIM:203300)
Gene: HPS1
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: HERMANSKY-PUDLAK SYNDROME 1 (OMIM:203300)
Gene: HPS1
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: HERMANSKY-PUDLAK SYNDROME 1 (OMIM:203300)
Gene: HPS1
Phenotype: Albinism (HP:0001022)
Associated disease: HERMANSKY-PUDLAK SYNDROME 1 (OMIM:203300)
Gene: HPS1
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: HERMANSKY-PUDLAK SYNDROME 1 (OMIM:203300)
Gene: HPS1
Phenotype: Nystagmus (HP:0000639)
Associated disease: HERMANSKY-PUDLAK SYNDROME 1 (OMIM:203300)
Gene: HPS1
Phenotype: Blindness (HP:0000618)
Associated disease: HERMANSKY-PUDLAK SYNDROME 1 (OMIM:203300)
Gene: HPS1
Phenotype: Photophobia (HP:0000613)
Associated disease: HERMANSKY-PUDLAK SYNDROME 1 (OMIM:203300)
Gene: HPS1
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: HERMANSKY-PUDLAK SYNDROME 1 (OMIM:203300)
Gene: HPS1
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: HERMANSKY-PUDLAK SYNDROME 1 (OMIM:203300)
Gene: HPS1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: HERMANSKY-PUDLAK SYNDROME 1 (OMIM:203300)
Gene: HPS1
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: HERMANSKY-PUDLAK SYNDROME 1 (OMIM:203300)
Gene: HPS1
Phenotype: Ecchymosis (HP:0031364)
Associated disease: HERMANSKY-PUDLAK SYNDROME 1 (OMIM:203300)
Gene: HPS1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: HERMANSKY-PUDLAK SYNDROME 1 (OMIM:203300)
Gene: HPS1
Phenotype: Epistaxis (HP:0000421)
Associated disease: HERMANSKY-PUDLAK SYNDROME 1 (OMIM:203300)
Gene: HRAS
Phenotype: Hyperextensibility of the finger joints (HP:0001187)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Wooly hair nevus; Woolly hair nevus (ORPHA:79414)
Gene: HRAS
Phenotype: Abnormal finger morphology (HP:0001167)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: HRAS
Phenotype: Hyperesthesia (HP:0100963)
Associated disease: Phakomatosis pigmentokeratotica (ORPHA:2874)
Gene: HRAS
Phenotype: Persistent pupillary membrane (HP:0009917)
Associated disease: Wooly hair nevus; Woolly hair nevus (ORPHA:79414)
Gene: HRAS
Phenotype: Spina bifida (HP:0002414)
Associated disease: Phakomatosis pigmentokeratotica (ORPHA:2874)
Gene: HRAS
Phenotype: Sporadic (HP:0003745)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Sporadic (HP:0003745)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: HRAS
Phenotype: Heterochromia iridis (HP:0001100)
Associated disease: Wooly hair nevus; Woolly hair nevus (ORPHA:79414)
Gene: HRAS
Phenotype: Nevus (HP:0003764)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: HRAS
Phenotype: Nevus (HP:0003764)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HRAS
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HRAS
Phenotype: Blue nevus (HP:0100814)
Associated disease: Phakomatosis pigmentokeratotica (ORPHA:2874)
Gene: HRAS
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Phakomatosis pigmentokeratotica (ORPHA:2874)
Gene: HRAS
Phenotype: Seizure (HP:0001250)
Associated disease: Phakomatosis pigmentokeratotica (ORPHA:2874)
Gene: HRAS
Phenotype: Seizure (HP:0001250)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: HRAS
Phenotype: Seizure (HP:0001250)
Associated disease: Solomon syndrome; Nevus sebaceus syndrome; Organoid nevus syndrome; Linear nevus sebaceus syndrome; Nevus sebaceus of Jadassohn; Schimmelpenning syndrome (ORPHA:2612)
Gene: HRAS
Phenotype: Hypotonia (HP:0001252)
Associated disease: Solomon syndrome; Nevus sebaceus syndrome; Organoid nevus syndrome; Linear nevus sebaceus syndrome; Nevus sebaceus of Jadassohn; Schimmelpenning syndrome (ORPHA:2612)
Gene: HRAS
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: HRAS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Solomon syndrome; Nevus sebaceus syndrome; Organoid nevus syndrome; Linear nevus sebaceus syndrome; Nevus sebaceus of Jadassohn; Schimmelpenning syndrome (ORPHA:2612)
Gene: HRAS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Generalized hyperpigmentation (HP:0007440)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Solomon syndrome; Nevus sebaceus syndrome; Organoid nevus syndrome; Linear nevus sebaceus syndrome; Nevus sebaceus of Jadassohn; Schimmelpenning syndrome (ORPHA:2612)
Gene: HRAS
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Solomon syndrome; Nevus sebaceus syndrome; Organoid nevus syndrome; Linear nevus sebaceus syndrome; Nevus sebaceus of Jadassohn; Schimmelpenning syndrome (ORPHA:2612)
Gene: HRAS
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Solomon syndrome; Nevus sebaceus syndrome; Organoid nevus syndrome; Linear nevus sebaceus syndrome; Nevus sebaceus of Jadassohn; Schimmelpenning syndrome (ORPHA:2612)
Gene: HRAS
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HRAS
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Solomon syndrome; Nevus sebaceus syndrome; Organoid nevus syndrome; Linear nevus sebaceus syndrome; Nevus sebaceus of Jadassohn; Schimmelpenning syndrome (ORPHA:2612)
Gene: HRAS
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: HRAS
Phenotype: Cutaneous melanoma (HP:0012056)
Associated disease: MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550)
Gene: HRAS
Phenotype: Cutaneous melanoma (HP:0012056)
Associated disease: Phakomatosis pigmentokeratotica (ORPHA:2874)
Gene: HRAS
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Solomon syndrome; Nevus sebaceus syndrome; Organoid nevus syndrome; Linear nevus sebaceus syndrome; Nevus sebaceus of Jadassohn; Schimmelpenning syndrome (ORPHA:2612)
Gene: HRAS
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Phakomatosis pigmentokeratotica (ORPHA:2874)
Gene: HRAS
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HRAS
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: Solomon syndrome; Nevus sebaceus syndrome; Organoid nevus syndrome; Linear nevus sebaceus syndrome; Nevus sebaceus of Jadassohn; Schimmelpenning syndrome (ORPHA:2612)
Gene: HRAS
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Phakomatosis pigmentokeratotica (ORPHA:2874)
Gene: HRAS
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Congenital posterior occipital alopecia (HP:0007534)
Associated disease: Wooly hair nevus; Woolly hair nevus (ORPHA:79414)
Gene: HRAS
Phenotype: Enlarged cerebellum (HP:0012081)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Deep palmar crease (HP:0006191)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HRAS
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: HRAS
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: Phakomatosis pigmentokeratotica (ORPHA:2874)
Gene: HRAS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: Phakomatosis pigmentokeratotica (ORPHA:2874)
Gene: HRAS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BLADDER CANCER (OMIM:109800)
Gene: HRAS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: HRAS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HRAS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: THYROID CANCER, NONMEDULLARY, 2 (OMIM:188470)
Gene: HRAS
Phenotype: Pheochromocytoma (HP:0002666)
Associated disease: Phakomatosis pigmentokeratotica (ORPHA:2874)