TaoMedAI/RareMedData huggingface dataset:
Gene: SPRED2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Abnormal EKG (HP:0003115)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED2
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED2
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Aplasia/Hypoplasia of the abdominal wall musculature (HP:0010318)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED2
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Dry skin (HP:0000958)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Osteopenia (HP:0000938)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Pes valgus (HP:0008081)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Sparse hair (HP:0008070)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Epicanthus (HP:0000286)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Clinodactyly (HP:0030084)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Kyphosis (HP:0002808)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Juvenile myelomonocytic leukemia (HP:0012209)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: High palate (HP:0000218)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED2
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Thickened helices (HP:0000391)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Low-set ears (HP:0000369)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Narrow forehead (HP:0000341)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Long philtrum (HP:0000343)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED2
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: High forehead (HP:0000348)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Triangular face (HP:0000325)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Triangular face (HP:0000325)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED2
Phenotype: Abnormal pulmonary valve morphology (HP:0001641)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED2
Phenotype: Pointed chin (HP:0000307)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED2
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Prominent nasolabial fold (HP:0005272)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Strabismus (HP:0000486)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED2
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED2
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Short neck (HP:0000470)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Webbed neck (HP:0000465)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Webbed neck (HP:0000465)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Pes planus (HP:0001763)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Abnormality of the spleen (HP:0001743)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Proptosis (HP:0000520)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED2
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED2
Phenotype: Ptosis (HP:0000508)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Delayed menarche (HP:0012569)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LIPH
Phenotype: Comedo (HP:0025249)
Associated disease: HYPOTRICHOSIS 7 (OMIM:604379)
Gene: LIPH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOTRICHOSIS 7 (OMIM:604379)
Gene: LIPH
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: HYPOTRICHOSIS 7 (OMIM:604379)
Gene: LIPH
Phenotype: Congenital onset (HP:0003577)
Associated disease: HYPOTRICHOSIS 7 (OMIM:604379)
Gene: LIPH
Phenotype: Woolly hair (HP:0002224)
Associated disease: HYPOTRICHOSIS 7 (OMIM:604379)
Gene: LIPH
Phenotype: Woolly hair (HP:0002224)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: LIPH
Phenotype: Slow-growing hair (HP:0002217)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: LIPH
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: HYPOTRICHOSIS 7 (OMIM:604379)
Gene: LIPH
Phenotype: Sparse body hair (HP:0002231)
Associated disease: HYPOTRICHOSIS 7 (OMIM:604379)
Gene: LIPH
Phenotype: Sparse body hair (HP:0002231)
Associated disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Gene: LIPH
Phenotype: Sparse body hair (HP:0002231)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: LIPH
Phenotype: Fine hair (HP:0002213)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: LIPH
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: HYPOTRICHOSIS 7 (OMIM:604379)
Gene: LIPH
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Gene: LIPH
Phenotype: Abnormality of hair texture (HP:0010719)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: LIPH
Phenotype: Brittle hair (HP:0002299)
Associated disease: HYPOTRICHOSIS 7 (OMIM:604379)
Gene: LIPH
Phenotype: Brittle hair (HP:0002299)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: LIPH
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: LIPH
Phenotype: Abnormal pupil morphology (HP:0000615)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: LIPH
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: HYPOTRICHOSIS 7 (OMIM:604379)
Gene: LIPH
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Gene: LIPH
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: HYPOTRICHOSIS 7 (OMIM:604379)
Gene: LIPH
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Gene: LIPH
Phenotype: Abnormal sweat gland morphology (HP:0000971)
Associated disease: HYPOTRICHOSIS 7 (OMIM:604379)
Gene: LIPH
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: HYPOTRICHOSIS 7 (OMIM:604379)
Gene: LIPH
Phenotype: Sparse hair (HP:0008070)
Associated disease: HYPOTRICHOSIS 7 (OMIM:604379)
Gene: LIPH
Phenotype: Sparse hair (HP:0008070)
Associated disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Gene: LIPH
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: HYPOTRICHOSIS 7 (OMIM:604379)
Gene: LIPH
Phenotype: Alopecia (HP:0001596)
Associated disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Gene: LIPH
Phenotype: Sparse lateral eyebrow (HP:0005338)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: LIPH
Phenotype: Strabismus (HP:0000486)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: LIPH
Phenotype: Abnormal retinal morphology (HP:0000479)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: LIPH
Phenotype: Cataract (HP:0000518)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: ARL13B
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: ARL13B
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: JOUBERT SYNDROME 8 (OMIM:612291)
Gene: ARL13B
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: JOUBERT SYNDROME 8 (OMIM:612291)
Gene: ARL13B
Phenotype: Hypertonia (HP:0001276)
Associated disease: JOUBERT SYNDROME 8 (OMIM:612291)
Gene: ARL13B
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: ARL13B
Phenotype: Seizure (HP:0001250)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: ARL13B
Phenotype: Hypotonia (HP:0001252)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: ARL13B
Phenotype: Hypotonia (HP:0001252)
Associated disease: JOUBERT SYNDROME 8 (OMIM:612291)
Gene: ARL13B
Phenotype: Ataxia (HP:0001251)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: ARL13B
Phenotype: Ataxia (HP:0001251)
Associated disease: JOUBERT SYNDROME 8 (OMIM:612291)
Gene: ARL13B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: ARL13B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: JOUBERT SYNDROME 8 (OMIM:612291)
Gene: ARL13B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: ARL13B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: JOUBERT SYNDROME 8 (OMIM:612291)
Gene: ARL13B
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: ARL13B
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: ARL13B
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: ARL13B
Phenotype: Absent speech (HP:0001344)
Associated disease: JOUBERT SYNDROME 8 (OMIM:612291)
Gene: ARL13B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: JOUBERT SYNDROME 8 (OMIM:612291)
Gene: ARL13B
Phenotype: Tremor (HP:0001337)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: ARL13B
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: ARL13B
Phenotype: Scoliosis (HP:0002650)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: ARL13B
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: ARL13B
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: ARL13B
Phenotype: Occipital encephalocele (HP:0002085)
Associated disease: JOUBERT SYNDROME 8 (OMIM:612291)