TaoMedAI/RareMedData huggingface dataset:
Gene: HRAS
Phenotype: Dandy-Walker malformation (HP:0001305)
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: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HRAS
Phenotype: Scoliosis (HP:0002650)
Associated disease: Phakomatosis pigmentokeratotica (ORPHA:2874)
Gene: HRAS
Phenotype: Reduced tendon reflexes (HP:0001315)
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: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: HRAS
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HRAS
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Narrow palate (HP:0000189)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Open mouth (HP:0000194)
Associated disease: MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550)
Gene: HRAS
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Macroglossia (HP:0000158)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Macroglossia (HP:0000158)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: HRAS
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Widely-spaced incisors (HP:0006304)
Associated disease: Wooly hair nevus; Woolly hair nevus (ORPHA:79414)
Gene: HRAS
Phenotype: Bronchomalacia (HP:0002780)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: HRAS
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: THYROID CANCER, NONMEDULLARY, 2 (OMIM:188470)
Gene: HRAS
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: BLADDER CANCER (OMIM:109800)
Gene: HRAS
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: HRAS
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550)
Gene: HRAS
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: NEVUS, EPIDERMAL (OMIM:162900)
Gene: HRAS
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: HRAS
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Poor suck (HP:0002033)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Poor suck (HP:0002033)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Thickened Achilles tendon (HP:0004690)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Deep philtrum (HP:0002002)
Associated disease: MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550)
Gene: HRAS
Phenotype: Redundant neck skin (HP:0005989)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Frontal bossing (HP:0002007)
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: Respiratory insufficiency (HP:0002093)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Hemiatrophy (HP:0100556)
Associated disease: Phakomatosis pigmentokeratotica (ORPHA:2874)
Gene: HRAS
Phenotype: Asymmetric growth (HP:0100555)
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: Cerebral atrophy (HP:0002059)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HRAS
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Ventriculomegaly (HP:0002119)
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: Ventriculomegaly (HP:0002119)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Porencephalic cyst (HP:0002132)
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: Pneumothorax (HP:0002107)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Vertebral segmentation defect (HP:0003422)
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: Vestibular schwannoma (HP:0009588)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Congenital onset (HP:0003577)
Associated disease: MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550)
Gene: HRAS
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: Phakomatosis pigmentokeratotica (ORPHA:2874)
Gene: HRAS
Phenotype: Woolly hair (HP:0002224)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: HRAS
Phenotype: Patchy alopecia (HP:0002232)
Associated disease: Phakomatosis pigmentokeratotica (ORPHA:2874)
Gene: HRAS
Phenotype: Curly hair (HP:0002212)
Associated disease: Wooly hair nevus; Woolly hair nevus (ORPHA:79414)
Gene: HRAS
Phenotype: Curly hair (HP:0002212)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Fine hair (HP:0002213)
Associated disease: Wooly hair nevus; Woolly hair nevus (ORPHA:79414)
Gene: HRAS
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: HRAS
Phenotype: Large earlobe (HP:0009748)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Adenoma sebaceum (HP:0009720)
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: Bladder neoplasm (HP:0009725)
Associated disease: BLADDER CANCER (OMIM:109800)
Gene: HRAS
Phenotype: Large face (HP:0100729)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Numerous nevi (HP:0001054)
Associated disease: NEVUS, EPIDERMAL (OMIM:162900)
Gene: HRAS
Phenotype: Cavernous hemangioma (HP:0001048)
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: Hemangioma (HP:0001028)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: HRAS
Phenotype: Hemangioma (HP:0001028)
Associated disease: Phakomatosis pigmentokeratotica (ORPHA:2874)
Gene: HRAS
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: HRAS
Phenotype: Lymphedema (HP:0001004)
Associated disease: Phakomatosis pigmentokeratotica (ORPHA:2874)
Gene: HRAS
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: HRAS
Phenotype: EEG abnormality (HP:0002353)
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: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HRAS
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Hemimegalencephaly (HP:0007206)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: HRAS
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: HRAS
Phenotype: Nevus sebaceous (HP:0010815)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: HRAS
Phenotype: Linear nevus sebaceous (HP:0010817)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: HRAS
Phenotype: Linear nevus sebaceous (HP:0010817)
Associated disease: Phakomatosis pigmentokeratotica (ORPHA:2874)
Gene: HRAS
Phenotype: Lack of skin elasticity (HP:0100679)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Prominence of the premaxilla (HP:0010759)
Associated disease: MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550)
Gene: HRAS
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HRAS
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HRAS
Phenotype: Hypophosphatemic rickets (HP:0004912)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: HRAS
Phenotype: Hypophosphatemic rickets (HP:0004912)
Associated disease: Phakomatosis pigmentokeratotica (ORPHA:2874)
Gene: HRAS
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HRAS
Phenotype: Lymphangiectasis (HP:0031842)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HRAS
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HRAS
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: HRAS
Phenotype: Iris coloboma (HP:0000612)
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: Hypoglycemia (HP:0001943)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550)
Gene: HRAS
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: HRAS
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HRAS
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Enlarged vestibular aqueduct (HP:0011387)
Associated disease: Wooly hair nevus; Woolly hair nevus (ORPHA:79414)
Gene: HRAS
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: HRAS
Phenotype: Patchy hypopigmentation of hair (HP:0011365)
Associated disease: Wooly hair nevus; Woolly hair nevus (ORPHA:79414)
Gene: HRAS
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: HRAS
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HRAS
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Short stature (HP:0004322)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Short stature (HP:0004322)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: HRAS
Phenotype: Short stature (HP:0004322)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Congenital giant melanocytic nevus (HP:0005600)
Associated disease: MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550)
Gene: HRAS
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HRAS
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HRAS
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: HRAS
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Papilloma (HP:0012740)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Phakomatosis pigmentokeratotica (ORPHA:2874)
Gene: HRAS
Phenotype: Hyperphosphaturia (HP:0003109)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: HRAS
Phenotype: Biparietal narrowing (HP:0004422)
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: Short nose (HP:0003196)
Associated disease: MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550)
Gene: HRAS
Phenotype: Verrucous epidermal nevus (HP:0034275)
Associated disease: Wooly hair nevus; Woolly hair nevus (ORPHA:79414)
Gene: HRAS
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HRAS
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: HRAS
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Wooly hair nevus; Woolly hair nevus (ORPHA:79414)
Gene: HRAS
Phenotype: Precocious puberty (HP:0000826)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: HRAS
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Phakomatosis pigmentokeratotica (ORPHA:2874)
Gene: HRAS
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HRAS
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: Phakomatosis pigmentokeratotica (ORPHA:2874)
Gene: HRAS
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HRAS
Phenotype: Melanocytic nevus (HP:0000995)
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: Melanocytic nevus (HP:0000995)
Associated disease: Phakomatosis pigmentokeratotica (ORPHA:2874)
Gene: HRAS
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: NEVUS, EPIDERMAL (OMIM:162900)
Gene: HRAS
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: HRAS
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Phakomatosis pigmentokeratotica (ORPHA:2874)
Gene: HRAS
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Osteopenia (HP:0000938)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: HRAS
Phenotype: Woolly scalp hair (HP:0040149)
Associated disease: Wooly hair nevus; Woolly hair nevus (ORPHA:79414)
Gene: HRAS
Phenotype: Sparse hair (HP:0008070)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Ichthyosis (HP:0008064)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: HRAS
Phenotype: Arrhythmia (HP:0011675)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: HRAS
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Phakomatosis pigmentokeratotica (ORPHA:2874)
Gene: HRAS
Phenotype: Non-medullary thyroid carcinoma (HP:0040198)
Associated disease: THYROID CANCER, NONMEDULLARY, 2 (OMIM:188470)
Gene: HRAS
Phenotype: Epicanthus (HP:0000286)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Epicanthus (HP:0000286)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Coarse facial features (HP:0000280)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Full cheeks (HP:0000293)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Full cheeks (HP:0000293)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Full cheeks (HP:0000293)
Associated disease: MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550)
Gene: HRAS
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Alopecia (HP:0001596)
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: Alopecia (HP:0001596)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: HRAS
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Macrocephaly (HP:0000256)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Cranial asymmetry (HP:0000267)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: HRAS
Phenotype: Concave nail (HP:0001598)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Concave nail (HP:0001598)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Prominent occiput (HP:0000269)
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: Genu recurvatum (HP:0002816)
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: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)