TaoMedAI/RareMedData huggingface dataset:
Gene: FAM20C
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Midface retrusion (HP:0011800)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Raine syndrome; Osteosclerotic bone dysplasia (ORPHA:1832)
Gene: FAM20C
Phenotype: Dyspnea (HP:0002094)
Associated disease: Raine syndrome; Osteosclerotic bone dysplasia (ORPHA:1832)
Gene: FAM20C
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20C
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Congenital onset (HP:0003577)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20C
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Protruding tongue (HP:0010808)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20C
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20C
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20C
Phenotype: Median cleft palate (HP:0009099)
Associated disease: Raine syndrome; Osteosclerotic bone dysplasia (ORPHA:1832)
Gene: FAM20C
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20C
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20C
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20C
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Natal tooth (HP:0000695)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Microdontia (HP:0000691)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20C
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Short stature (HP:0004322)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20C
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20C
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Short nose (HP:0003196)
Associated disease: Raine syndrome; Osteosclerotic bone dysplasia (ORPHA:1832)
Gene: FAM20C
Phenotype: Short nose (HP:0003196)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20C
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20C
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20C
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Retrognathia (HP:0000278)
Associated disease: Raine syndrome; Osteosclerotic bone dysplasia (ORPHA:1832)
Gene: FAM20C
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: Raine syndrome; Osteosclerotic bone dysplasia (ORPHA:1832)
Gene: FAM20C
Phenotype: Malar flattening (HP:0000272)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Brachyturricephaly (HP:0000244)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Raine syndrome; Osteosclerotic bone dysplasia (ORPHA:1832)
Gene: FAM20C
Phenotype: Large fontanelles (HP:0000239)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Microcephaly (HP:0000252)
Associated disease: Raine syndrome; Osteosclerotic bone dysplasia (ORPHA:1832)
Gene: FAM20C
Phenotype: Microcephaly (HP:0000252)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Brachycephaly (HP:0000248)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Raine syndrome; Osteosclerotic bone dysplasia (ORPHA:1832)
Gene: FAM20C
Phenotype: High palate (HP:0000218)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Raine syndrome; Osteosclerotic bone dysplasia (ORPHA:1832)
Gene: FAM20C
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20C
Phenotype: Death in infancy (HP:0001522)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20C
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Raine syndrome; Osteosclerotic bone dysplasia (ORPHA:1832)
Gene: FAM20C
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20C
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20C
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Raine syndrome; Osteosclerotic bone dysplasia (ORPHA:1832)
Gene: FAM20C
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Low-set ears (HP:0000369)
Associated disease: Raine syndrome; Osteosclerotic bone dysplasia (ORPHA:1832)
Gene: FAM20C
Phenotype: Low-set ears (HP:0000369)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20C
Phenotype: Micrognathia (HP:0000347)
Associated disease: Raine syndrome; Osteosclerotic bone dysplasia (ORPHA:1832)
Gene: FAM20C
Phenotype: Micrognathia (HP:0000347)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Micromelia (HP:0002983)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Hypertelorism (HP:0000316)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Subperiosteal bone formation (HP:0031485)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20C
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Raine syndrome; Osteosclerotic bone dysplasia (ORPHA:1832)
Gene: FAM20C
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Raine syndrome; Osteosclerotic bone dysplasia (ORPHA:1832)
Gene: FAM20C
Phenotype: Short neck (HP:0000470)
Associated disease: Raine syndrome; Osteosclerotic bone dysplasia (ORPHA:1832)
Gene: FAM20C
Phenotype: Short neck (HP:0000470)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Choanal atresia (HP:0000453)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Choanal stenosis (HP:0000452)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Protruding ear (HP:0000411)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Long hallux (HP:0001847)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20C
Phenotype: Proptosis (HP:0000520)
Associated disease: Raine syndrome; Osteosclerotic bone dysplasia (ORPHA:1832)
Gene: FAM20C
Phenotype: Proptosis (HP:0000520)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRDM8
Phenotype: Spastic ataxia (HP:0002497)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 10 (OMIM:616640)
Gene: PRDM8
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Early-onset Lafora body disease (ORPHA:324290)
Gene: PRDM8
Phenotype: Confusion (HP:0001289)
Associated disease: Early-onset Lafora body disease (ORPHA:324290)
Gene: PRDM8
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: Early-onset Lafora body disease (ORPHA:324290)
Gene: PRDM8
Phenotype: Seizure (HP:0001250)
Associated disease: Early-onset Lafora body disease (ORPHA:324290)
Gene: PRDM8
Phenotype: Seizure (HP:0001250)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 10 (OMIM:616640)
Gene: PRDM8
Phenotype: Ataxia (HP:0001251)
Associated disease: Early-onset Lafora body disease (ORPHA:324290)
Gene: PRDM8
Phenotype: Ataxia (HP:0001251)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 10 (OMIM:616640)
Gene: PRDM8
Phenotype: Dysarthria (HP:0001260)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 10 (OMIM:616640)
Gene: PRDM8
Phenotype: Dysarthria (HP:0001260)
Associated disease: Early-onset Lafora body disease (ORPHA:324290)
Gene: PRDM8
Phenotype: Spasticity (HP:0001257)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 10 (OMIM:616640)
Gene: PRDM8
Phenotype: Variable expressivity (HP:0003828)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 10 (OMIM:616640)
Gene: PRDM8
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 10 (OMIM:616640)
Gene: PRDM8
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 10 (OMIM:616640)
Gene: PRDM8
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 10 (OMIM:616640)
Gene: PRDM8
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Early-onset Lafora body disease (ORPHA:324290)
Gene: PRDM8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 10 (OMIM:616640)
Gene: PRDM8
Phenotype: Myoclonus (HP:0001336)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 10 (OMIM:616640)
Gene: PRDM8
Phenotype: Myoclonus (HP:0001336)
Associated disease: Early-onset Lafora body disease (ORPHA:324290)
Gene: PRDM8
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 10 (OMIM:616640)
Gene: PRDM8
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 10 (OMIM:616640)
Gene: PRDM8
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 10 (OMIM:616640)
Gene: PRDM8
Phenotype: Paranoia (HP:0011999)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 10 (OMIM:616640)
Gene: PRDM8
Phenotype: Paranoia (HP:0011999)
Associated disease: Early-onset Lafora body disease (ORPHA:324290)
Gene: PRDM8
Phenotype: Progressive (HP:0003676)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 10 (OMIM:616640)
Gene: PRDM8
Phenotype: Mutism (HP:0002300)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 10 (OMIM:616640)
Gene: PRDM8
Phenotype: Mutism (HP:0002300)
Associated disease: Early-onset Lafora body disease (ORPHA:324290)
Gene: PRDM8
Phenotype: Hallucinations (HP:0000738)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 10 (OMIM:616640)
Gene: PRDM8
Phenotype: Dementia (HP:0000726)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 10 (OMIM:616640)
Gene: PRDM8
Phenotype: Psychosis (HP:0000709)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 10 (OMIM:616640)
Gene: PRDM8
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Early-onset Lafora body disease (ORPHA:324290)
Gene: PRDM8
Phenotype: Lafora bodies (HP:0100318)
Associated disease: Early-onset Lafora body disease (ORPHA:324290)
Gene: PRDM8
Phenotype: Lafora bodies (HP:0100318)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 10 (OMIM:616640)
Gene: PRDM10
Phenotype: Perifollicular fibroma (HP:0032225)
Associated disease: BIRT-HOGG-DUBE SYNDROME 2 (OMIM:620459)
Gene: PRDM10
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BIRT-HOGG-DUBE SYNDROME 2 (OMIM:620459)
Gene: PRDM10
Phenotype: Pulmonary cyst (HP:0032445)
Associated disease: BIRT-HOGG-DUBE SYNDROME 2 (OMIM:620459)
Gene: PRDM10
Phenotype: Emphysema (HP:0002097)
Associated disease: Hornstein-Knickenberg syndrome; Birt-Hogg-Dubé syndrome (ORPHA:122)
Gene: PRDM10
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Hornstein-Knickenberg syndrome; Birt-Hogg-Dubé syndrome (ORPHA:122)
Gene: PRDM10
Phenotype: Skin tags (HP:0010609)
Associated disease: Hornstein-Knickenberg syndrome; Birt-Hogg-Dubé syndrome (ORPHA:122)
Gene: PRDM10
Phenotype: Multiple lipomas (HP:0001012)
Associated disease: Hornstein-Knickenberg syndrome; Birt-Hogg-Dubé syndrome (ORPHA:122)
Gene: PRDM10
Phenotype: Multiple lipomas (HP:0001012)
Associated disease: BIRT-HOGG-DUBE SYNDROME 2 (OMIM:620459)
Gene: PRDM10
Phenotype: Papule (HP:0200034)
Associated disease: Hornstein-Knickenberg syndrome; Birt-Hogg-Dubé syndrome (ORPHA:122)
Gene: PRDM10
Phenotype: Pulmonary sequestration (HP:0100632)
Associated disease: Hornstein-Knickenberg syndrome; Birt-Hogg-Dubé syndrome (ORPHA:122)
Gene: PRDM10
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: Hornstein-Knickenberg syndrome; Birt-Hogg-Dubé syndrome (ORPHA:122)
Gene: PRDM10
Phenotype: Young adult onset (HP:0011462)
Associated disease: BIRT-HOGG-DUBE SYNDROME 2 (OMIM:620459)
Gene: PRDM10
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Hornstein-Knickenberg syndrome; Birt-Hogg-Dubé syndrome (ORPHA:122)
Gene: PRDM10
Phenotype: Parathyroid adenoma (HP:0002897)
Associated disease: Hornstein-Knickenberg syndrome; Birt-Hogg-Dubé syndrome (ORPHA:122)
Gene: PRDM10
Phenotype: Medullary thyroid carcinoma (HP:0002865)
Associated disease: Hornstein-Knickenberg syndrome; Birt-Hogg-Dubé syndrome (ORPHA:122)
Gene: PRDM10
Phenotype: Fibrofolliculoma (HP:0030436)
Associated disease: BIRT-HOGG-DUBE SYNDROME 2 (OMIM:620459)
Gene: PRDM10
Phenotype: Clear cell renal cell carcinoma (HP:0006770)
Associated disease: BIRT-HOGG-DUBE SYNDROME 2 (OMIM:620459)
Gene: POGLUT1
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POGLUT1
Phenotype: Hypergranulosis (HP:0025114)
Associated disease: DOWLING-DEGOS DISEASE 4 (OMIM:615696)
Gene: POGLUT1
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POGLUT1
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21 (OMIM:617232)
Gene: POGLUT1
Phenotype: Reduced forced vital capacity (HP:0032341)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21 (OMIM:617232)
Gene: POGLUT1
Phenotype: Arthritis (HP:0001369)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POGLUT1
Phenotype: Progressive reticulate hyperpigmentation (HP:0007456)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POGLUT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21 (OMIM:617232)
Gene: POGLUT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DOWLING-DEGOS DISEASE 4 (OMIM:615696)
Gene: POGLUT1
Phenotype: Hyperpigmented papule (HP:0025473)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POGLUT1
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21 (OMIM:617232)
Gene: POGLUT1
Phenotype: Digital pitting scar (HP:0031293)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POGLUT1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21 (OMIM:617232)
Gene: POGLUT1
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21 (OMIM:617232)
Gene: POGLUT1
Phenotype: Heat intolerance (HP:0002046)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POGLUT1
Phenotype: Adult onset (HP:0003581)
Associated disease: DOWLING-DEGOS DISEASE 4 (OMIM:615696)
Gene: POGLUT1
Phenotype: Palmar pits (HP:0010610)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POGLUT1
Phenotype: Hypopigmented macule (HP:0020073)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POGLUT1
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POGLUT1
Phenotype: Scapular winging (HP:0003691)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21 (OMIM:617232)
Gene: POGLUT1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21 (OMIM:617232)
Gene: POGLUT1
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: DOWLING-DEGOS DISEASE 4 (OMIM:615696)
Gene: POGLUT1
Phenotype: Skin vesicle (HP:0200037)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POGLUT1
Phenotype: Papule (HP:0200034)
Associated disease: DOWLING-DEGOS DISEASE 4 (OMIM:615696)
Gene: POGLUT1
Phenotype: Epidermoid cyst (HP:0200040)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POGLUT1
Phenotype: Generalized abnormality of skin (HP:0011354)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)