TaoMedAI/RareMedData huggingface dataset:
Gene: SLCO2A1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Young adult onset (HP:0011462)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT (OMIM:167100)
Gene: SLCO2A1
Phenotype: Young adult onset (HP:0011462)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2 (OMIM:614441)
Gene: SLCO2A1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO2A1
Phenotype: Elevated circulating growth hormone concentration (HP:0000845)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO2A1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO2A1
Phenotype: Knee pain (HP:0030839)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2 (OMIM:614441)
Gene: SLCO2A1
Phenotype: Knee pain (HP:0030839)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT (OMIM:167100)
Gene: SLCO2A1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2 (OMIM:614441)
Gene: SLCO2A1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT (OMIM:167100)
Gene: SLCO2A1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Edema (HP:0000969)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Periosteal thickening of long tubular bones (HP:0006465)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT (OMIM:167100)
Gene: SLCO2A1
Phenotype: Arthralgia (HP:0002829)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO2A1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO2A1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO2A1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Secretory diarrhea (HP:0005208)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2 (OMIM:614441)
Gene: SLCO2A1
Phenotype: Secretory diarrhea (HP:0005208)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT (OMIM:167100)
Gene: SLCO2A1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO2A1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO2A1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Genu varum (HP:0002970)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO2A1
Phenotype: Periostosis (HP:0030314)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2 (OMIM:614441)
Gene: SLCO2A1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLCO2A1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Ptosis (HP:0000508)
Associated disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT (OMIM:167100)
Gene: SLCO2A1
Phenotype: Ptosis (HP:0000508)
Associated disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Gene: SLCO2A1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLCO2A1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC22A4
Phenotype: Rheumatoid arthritis (HP:0001370)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: SLC22A4
Phenotype: Joint swelling (HP:0001386)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: SLC22A4
Phenotype: Joint stiffness (HP:0001387)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: SLC22A4
Phenotype: Swan neck-like deformities of the fingers (HP:0006150)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: SLC22A4
Phenotype: Vasculitis (HP:0002633)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: SLC22A4
Phenotype: Interphalangeal joint erosions (HP:0006252)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: SLC22A4
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: SLC22A4
Phenotype: Fever (HP:0001945)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: SLC22A4
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: SLC22A4
Phenotype: Anti-citrullinated protein antibody positivity (HP:0033034)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: SLC22A4
Phenotype: Digital flexor tenosynovitis (HP:0012276)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: SLC22A4
Phenotype: Arthralgia (HP:0002829)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: SLC22A4
Phenotype: Fatigue (HP:0012378)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: SLC22A4
Phenotype: Rheumatoid factor positive (HP:0002923)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: SLC22A4
Phenotype: Weight loss (HP:0001824)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: SLC22A4
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: SLC22A5
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (OMIM:212140)
Gene: SLC22A5
Phenotype: Encephalopathy (HP:0001298)
Associated disease: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (OMIM:212140)
Gene: SLC22A5
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (OMIM:212140)
Gene: SLC22A5
Phenotype: Confusion (HP:0001289)
Associated disease: Deficiency of plasma-membrane carnitine transporter; Carnitine transporter defect; CUD; Systemic primary carnitine deficiency; SPCD; CDSP; Carnitine uptake deficiency (ORPHA:158)
Gene: SLC22A5
Phenotype: Confusion (HP:0001289)
Associated disease: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (OMIM:212140)
Gene: SLC22A5
Phenotype: Lethargy (HP:0001254)
Associated disease: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (OMIM:212140)
Gene: SLC22A5
Phenotype: Hypotonia (HP:0001252)
Associated disease: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (OMIM:212140)
Gene: SLC22A5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (OMIM:212140)
Gene: SLC22A5
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (OMIM:212140)
Gene: SLC22A5
Phenotype: Coma (HP:0001259)
Associated disease: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (OMIM:212140)
Gene: SLC22A5
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: Deficiency of plasma-membrane carnitine transporter; Carnitine transporter defect; CUD; Systemic primary carnitine deficiency; SPCD; CDSP; Carnitine uptake deficiency (ORPHA:158)
Gene: SLC22A5
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Deficiency of plasma-membrane carnitine transporter; Carnitine transporter defect; CUD; Systemic primary carnitine deficiency; SPCD; CDSP; Carnitine uptake deficiency (ORPHA:158)
Gene: SLC22A5
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (OMIM:212140)
Gene: SLC22A5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (OMIM:212140)
Gene: SLC22A5
Phenotype: Microvesicular hepatic steatosis (HP:0001414)
Associated disease: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (OMIM:212140)
Gene: SLC22A5
Phenotype: Diarrhea (HP:0002014)
Associated disease: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (OMIM:212140)
Gene: SLC22A5
Phenotype: Vomiting (HP:0002013)
Associated disease: Deficiency of plasma-membrane carnitine transporter; Carnitine transporter defect; CUD; Systemic primary carnitine deficiency; SPCD; CDSP; Carnitine uptake deficiency (ORPHA:158)
Gene: SLC22A5
Phenotype: Vomiting (HP:0002013)
Associated disease: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (OMIM:212140)
Gene: SLC22A5
Phenotype: Impaired gluconeogenesis (HP:0005959)
Associated disease: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (OMIM:212140)
Gene: SLC22A5
Phenotype: Respiratory distress (HP:0002098)
Associated disease: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (OMIM:212140)
Gene: SLC22A5
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Deficiency of plasma-membrane carnitine transporter; Carnitine transporter defect; CUD; Systemic primary carnitine deficiency; SPCD; CDSP; Carnitine uptake deficiency (ORPHA:158)
Gene: SLC22A5
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (OMIM:212140)
Gene: SLC22A5
Phenotype: Clumsiness (HP:0002312)
Associated disease: Deficiency of plasma-membrane carnitine transporter; Carnitine transporter defect; CUD; Systemic primary carnitine deficiency; SPCD; CDSP; Carnitine uptake deficiency (ORPHA:158)
Gene: SLC22A5
Phenotype: Acute encephalopathy (HP:0006846)
Associated disease: Deficiency of plasma-membrane carnitine transporter; Carnitine transporter defect; CUD; Systemic primary carnitine deficiency; SPCD; CDSP; Carnitine uptake deficiency (ORPHA:158)
Gene: SLC22A5
Phenotype: Dehydration (HP:0001944)
Associated disease: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (OMIM:212140)
Gene: SLC22A5
Phenotype: Ketosis (HP:0001946)
Associated disease: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (OMIM:212140)
Gene: SLC22A5
Phenotype: Recurrent hypoglycemia (HP:0001988)
Associated disease: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (OMIM:212140)
Gene: SLC22A5
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (OMIM:212140)
Gene: SLC22A5
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (OMIM:212140)
Gene: SLC22A5
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (OMIM:212140)
Gene: SLC22A5
Phenotype: Childhood onset (HP:0011463)
Associated disease: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (OMIM:212140)
Gene: SLC22A5
Phenotype: Myopathy (HP:0003198)
Associated disease: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (OMIM:212140)
Gene: SLC22A5
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (OMIM:212140)
Gene: SLC22A5
Phenotype: Decreased circulating carnitine concentration (HP:0003234)
Associated disease: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (OMIM:212140)
Gene: SLC22A5
Phenotype: Dicarboxylic aciduria (HP:0003215)
Associated disease: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (OMIM:212140)
Gene: SLC22A5
Phenotype: Decreased carnitine level in liver (HP:0045061)
Associated disease: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (OMIM:212140)
Gene: SLC22A5
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (OMIM:212140)
Gene: SLC22A5
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Deficiency of plasma-membrane carnitine transporter; Carnitine transporter defect; CUD; Systemic primary carnitine deficiency; SPCD; CDSP; Carnitine uptake deficiency (ORPHA:158)
Gene: SLC22A5
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (OMIM:212140)
Gene: SLC22A5
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (OMIM:212140)
Gene: SLC22A5
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (OMIM:212140)
Gene: SLC22A5
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (OMIM:212140)
Gene: SLC22A5
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (OMIM:212140)
Gene: SLC22A5
Phenotype: Endocardial fibroelastosis (HP:0001706)
Associated disease: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (OMIM:212140)
Gene: SLC22A5
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: Deficiency of plasma-membrane carnitine transporter; Carnitine transporter defect; CUD; Systemic primary carnitine deficiency; SPCD; CDSP; Carnitine uptake deficiency (ORPHA:158)
Gene: SLC22A5
Phenotype: Reduced muscle carnitine level (HP:0030362)
Associated disease: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (OMIM:212140)
Gene: SNAI2
Phenotype: Heterochromia iridis (HP:0001100)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: SNAI2
Phenotype: Heterochromia iridis (HP:0001100)
Associated disease: Piebaldism (ORPHA:2884)
Gene: SNAI2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Piebaldism (ORPHA:2884)
Gene: SNAI2
Phenotype: Ataxia (HP:0001251)
Associated disease: Piebaldism (ORPHA:2884)
Gene: SNAI2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Piebaldism (ORPHA:2884)
Gene: SNAI2
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: SNAI2
Phenotype: Abnormal calvaria morphology (HP:0002683)
Associated disease: Piebaldism (ORPHA:2884)
Gene: SNAI2
Phenotype: Piebald skin depigmentation (HP:0007544)
Associated disease: Piebaldism (ORPHA:2884)
Gene: SNAI2
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Piebaldism (ORPHA:2884)
Gene: SNAI2
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: SNAI2
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: SNAI2
Phenotype: White eyelashes (HP:0002227)
Associated disease: Piebaldism (ORPHA:2884)
Gene: SNAI2
Phenotype: White eyebrow (HP:0002226)
Associated disease: Piebaldism (ORPHA:2884)
Gene: SNAI2
Phenotype: White forelock (HP:0002211)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: SNAI2
Phenotype: White forelock (HP:0002211)
Associated disease: Piebaldism (ORPHA:2884)
Gene: SNAI2
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Piebaldism (ORPHA:2884)
Gene: SNAI2
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: SNAI2
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Piebaldism (ORPHA:2884)
Gene: SNAI2
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: SNAI2
Phenotype: Synophrys (HP:0000664)
Associated disease: Piebaldism (ORPHA:2884)
Gene: SNAI2
Phenotype: Macule (HP:0012733)
Associated disease: Piebaldism (ORPHA:2884)
Gene: SNAI2
Phenotype: Abnormality of the pulmonary artery (HP:0004414)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: SNAI2
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Piebaldism (ORPHA:2884)
Gene: SNAI2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Piebaldism (ORPHA:2884)
Gene: SNAI2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: SNAI2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Piebaldism (ORPHA:2884)
Gene: SNAI2
Phenotype: Long philtrum (HP:0000343)
Associated disease: Piebaldism (ORPHA:2884)
Gene: SNAI2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: SNAI2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Piebaldism (ORPHA:2884)
Gene: SNAI2
Phenotype: Telecanthus (HP:0000506)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: SNAI2
Phenotype: Ptosis (HP:0000508)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: SMARCA2
Phenotype: Tapered finger (HP:0001182)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Abnormal finger morphology (HP:0001167)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Poor speech (HP:0002465)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Thick nasal alae (HP:0009928)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Long fingers (HP:0100807)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Seizure (HP:0001250)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Seizure (HP:0001250)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Seizure (HP:0001250)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Hypotonia (HP:0001252)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Hypotonia (HP:0001252)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)