TaoMedAI/RareMedData huggingface dataset:
Gene: BHLHA9
Phenotype: Aplasia/Hypoplasia of the hallux (HP:0008362)
Associated disease: MSSD; Syndactyly, Malik-Percin type; Mesoaxial synostotic syndactyly with phalangeal reduction; Syndactyly type 9 (ORPHA:157801)
Gene: BHLHA9
Phenotype: Aplasia/Hypoplasia of the hallux (HP:0008362)
Associated disease: SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION (OMIM:609432)
Gene: BHLHA9
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BHLHA9
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Aplasia/Hypoplasia of the middle phalanges of the hand (HP:0009843)
Associated disease: MSSD; Syndactyly, Malik-Percin type; Mesoaxial synostotic syndactyly with phalangeal reduction; Syndactyly type 9 (ORPHA:157801)
Gene: BHLHA9
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Symphalangism affecting the phalanges of the hand (HP:0009773)
Associated disease: MSSD; Syndactyly, Malik-Percin type; Mesoaxial synostotic syndactyly with phalangeal reduction; Syndactyly type 9 (ORPHA:157801)
Gene: BHLHA9
Phenotype: Short thumb (HP:0009778)
Associated disease: MSSD; Syndactyly, Malik-Percin type; Mesoaxial synostotic syndactyly with phalangeal reduction; Syndactyly type 9 (ORPHA:157801)
Gene: BHLHA9
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BHLHA9
Phenotype: Popliteal pterygium (HP:0009756)
Associated disease: Tibial hemimelia-ectrodactyly syndrome; SHFLD syndrome; Tibial aplasia-ectrodactyly syndrome; Aplasia of tibia with split-hand/split-foot deformity; TH-SHFM; SHFM associated with aplasia of long bones; Split-hand/foot malformation associated with aplasia of long bones; Tibial hemimelia with split hand/foot malformation; Split hand/foot malformation with long bone deficiency (ORPHA:3329)
Gene: BHLHA9
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BHLHA9
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BHLHA9
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: MSSD; Syndactyly, Malik-Percin type; Mesoaxial synostotic syndactyly with phalangeal reduction; Syndactyly type 9 (ORPHA:157801)
Gene: BHLHA9
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION (OMIM:609432)
Gene: BHLHA9
Phenotype: Symphalangism affecting the phalanges of the hallux (HP:0010064)
Associated disease: SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION (OMIM:609432)
Gene: BHLHA9
Phenotype: Short palm (HP:0004279)
Associated disease: MSSD; Syndactyly, Malik-Percin type; Mesoaxial synostotic syndactyly with phalangeal reduction; Syndactyly type 9 (ORPHA:157801)
Gene: BHLHA9
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BHLHA9
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BHLHA9
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BHLHA9
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BHLHA9
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BHLHA9
Phenotype: Fibular hypoplasia (HP:0003038)
Associated disease: Tibial hemimelia-ectrodactyly syndrome; SHFLD syndrome; Tibial aplasia-ectrodactyly syndrome; Aplasia of tibia with split-hand/split-foot deformity; TH-SHFM; SHFM associated with aplasia of long bones; Split-hand/foot malformation associated with aplasia of long bones; Tibial hemimelia with split hand/foot malformation; Split hand/foot malformation with long bone deficiency (ORPHA:3329)
Gene: BHLHA9
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BHLHA9
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: CAMPTOSYNPOLYDACTYLY, COMPLEX (OMIM:607539)
Gene: BHLHA9
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Proximal/middle symphalangism of 5th finger (HP:0009177)
Associated disease: SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION (OMIM:609432)
Gene: BHLHA9
Phenotype: Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)
Associated disease: SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION (OMIM:609432)
Gene: BHLHA9
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Short hallux (HP:0010109)
Associated disease: MSSD; Syndactyly, Malik-Percin type; Mesoaxial synostotic syndactyly with phalangeal reduction; Syndactyly type 9 (ORPHA:157801)
Gene: BHLHA9
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Aplasia/Hypoplasia of the tibia (HP:0005772)
Associated disease: Tibial hemimelia-ectrodactyly syndrome; SHFLD syndrome; Tibial aplasia-ectrodactyly syndrome; Aplasia of tibia with split-hand/split-foot deformity; TH-SHFM; SHFM associated with aplasia of long bones; Split-hand/foot malformation associated with aplasia of long bones; Tibial hemimelia with split hand/foot malformation; Split hand/foot malformation with long bone deficiency (ORPHA:3329)
Gene: BHLHA9
Phenotype: Aplasia/Hypoplasia of the tibia (HP:0005772)
Associated disease: Bifid femur-monodactylous ectrodactyly syndrome; Gollop-Wolfgang complex (ORPHA:1986)
Gene: BHLHA9
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BHLHA9
Phenotype: Short femur (HP:0003097)
Associated disease: Tibial hemimelia-ectrodactyly syndrome; SHFLD syndrome; Tibial aplasia-ectrodactyly syndrome; Aplasia of tibia with split-hand/split-foot deformity; TH-SHFM; SHFM associated with aplasia of long bones; Split-hand/foot malformation associated with aplasia of long bones; Tibial hemimelia with split hand/foot malformation; Split hand/foot malformation with long bone deficiency (ORPHA:3329)
Gene: BHLHA9
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BHLHA9
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BHLHA9
Phenotype: Ectrodactyly (HP:0100257)
Associated disease: Tibial hemimelia-ectrodactyly syndrome; SHFLD syndrome; Tibial aplasia-ectrodactyly syndrome; Aplasia of tibia with split-hand/split-foot deformity; TH-SHFM; SHFM associated with aplasia of long bones; Split-hand/foot malformation associated with aplasia of long bones; Tibial hemimelia with split hand/foot malformation; Split hand/foot malformation with long bone deficiency (ORPHA:3329)
Gene: BHLHA9
Phenotype: Ectrodactyly (HP:0100257)
Associated disease: Bifid femur-monodactylous ectrodactyly syndrome; Gollop-Wolfgang complex (ORPHA:1986)
Gene: BHLHA9
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION (OMIM:609432)
Gene: BHLHA9
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Patellar aplasia (HP:0006443)
Associated disease: Tibial hemimelia-ectrodactyly syndrome; SHFLD syndrome; Tibial aplasia-ectrodactyly syndrome; Aplasia of tibia with split-hand/split-foot deformity; TH-SHFM; SHFM associated with aplasia of long bones; Split-hand/foot malformation associated with aplasia of long bones; Tibial hemimelia with split hand/foot malformation; Split hand/foot malformation with long bone deficiency (ORPHA:3329)
Gene: BHLHA9
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Abnormal femur morphology (HP:0002823)
Associated disease: Tibial hemimelia-ectrodactyly syndrome; SHFLD syndrome; Tibial aplasia-ectrodactyly syndrome; Aplasia of tibia with split-hand/split-foot deformity; TH-SHFM; SHFM associated with aplasia of long bones; Split-hand/foot malformation associated with aplasia of long bones; Tibial hemimelia with split hand/foot malformation; Split hand/foot malformation with long bone deficiency (ORPHA:3329)
Gene: BHLHA9
Phenotype: Synostosis of carpal bones (HP:0005048)
Associated disease: MSSD; Syndactyly, Malik-Percin type; Mesoaxial synostotic syndactyly with phalangeal reduction; Syndactyly type 9 (ORPHA:157801)
Gene: BHLHA9
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BHLHA9
Phenotype: Omphalocele (HP:0001539)
Associated disease: Tibial hemimelia-ectrodactyly syndrome; SHFLD syndrome; Tibial aplasia-ectrodactyly syndrome; Aplasia of tibia with split-hand/split-foot deformity; TH-SHFM; SHFM associated with aplasia of long bones; Split-hand/foot malformation associated with aplasia of long bones; Tibial hemimelia with split hand/foot malformation; Split hand/foot malformation with long bone deficiency (ORPHA:3329)
Gene: BHLHA9
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BHLHA9
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BHLHA9
Phenotype: Camptodactyly (HP:0012385)
Associated disease: CAMPTOSYNPOLYDACTYLY, COMPLEX (OMIM:607539)
Gene: BHLHA9
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Overfolded helix (HP:0000396)
Associated disease: Tibial hemimelia-ectrodactyly syndrome; SHFLD syndrome; Tibial aplasia-ectrodactyly syndrome; Aplasia of tibia with split-hand/split-foot deformity; TH-SHFM; SHFM associated with aplasia of long bones; Split-hand/foot malformation associated with aplasia of long bones; Tibial hemimelia with split hand/foot malformation; Split hand/foot malformation with long bone deficiency (ORPHA:3329)
Gene: BHLHA9
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Aplasia/Hypoplasia of the ulna (HP:0006495)
Associated disease: Tibial hemimelia-ectrodactyly syndrome; SHFLD syndrome; Tibial aplasia-ectrodactyly syndrome; Aplasia of tibia with split-hand/split-foot deformity; TH-SHFM; SHFM associated with aplasia of long bones; Split-hand/foot malformation associated with aplasia of long bones; Tibial hemimelia with split hand/foot malformation; Split hand/foot malformation with long bone deficiency (ORPHA:3329)
Gene: BHLHA9
Phenotype: Aplasia/Hypoplasia of the ulna (HP:0006495)
Associated disease: Bifid femur-monodactylous ectrodactyly syndrome; Gollop-Wolfgang complex (ORPHA:1986)
Gene: BHLHA9
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BHLHA9
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BHLHA9
Phenotype: Femoral bowing (HP:0002980)
Associated disease: Tibial hemimelia-ectrodactyly syndrome; SHFLD syndrome; Tibial aplasia-ectrodactyly syndrome; Aplasia of tibia with split-hand/split-foot deformity; TH-SHFM; SHFM associated with aplasia of long bones; Split-hand/foot malformation associated with aplasia of long bones; Tibial hemimelia with split hand/foot malformation; Split hand/foot malformation with long bone deficiency (ORPHA:3329)
Gene: BHLHA9
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Abnormal fibula morphology (HP:0002991)
Associated disease: Tibial hemimelia-ectrodactyly syndrome; SHFLD syndrome; Tibial aplasia-ectrodactyly syndrome; Aplasia of tibia with split-hand/split-foot deformity; TH-SHFM; SHFM associated with aplasia of long bones; Split-hand/foot malformation associated with aplasia of long bones; Tibial hemimelia with split hand/foot malformation; Split hand/foot malformation with long bone deficiency (ORPHA:3329)
Gene: BHLHA9
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BHLHA9
Phenotype: Hand monodactyly (HP:0004058)
Associated disease: Bifid femur-monodactylous ectrodactyly syndrome; Gollop-Wolfgang complex (ORPHA:1986)
Gene: BHLHA9
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Small nail (HP:0001792)
Associated disease: CAMPTOSYNPOLYDACTYLY, COMPLEX (OMIM:607539)
Gene: BHLHA9
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: MSSD; Syndactyly, Malik-Percin type; Mesoaxial synostotic syndactyly with phalangeal reduction; Syndactyly type 9 (ORPHA:157801)
Gene: BHLHA9
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BHLHA9
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MUC5B
Phenotype: Honeycomb lung (HP:0025175)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: MUC5B
Phenotype: Ground-glass opacification (HP:0025179)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: MUC5B
Phenotype: Reduced forced vital capacity (HP:0032341)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: MUC5B
Phenotype: Cirrhosis (HP:0001394)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: MUC5B
Phenotype: Reticular pattern on pulmonary HRCT (HP:0025390)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: MUC5B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: MUC5B
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: MUC5B
Phenotype: Dyspnea (HP:0002094)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: MUC5B
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: MUC5B
Phenotype: Pulmonic regurgitation (HP:0010444)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: MUC5B
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: MUC5B
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: MUC5B
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: MUC5B
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: MUC5B
Phenotype: Increased circulating immunoglobulin concentration (HP:0010702)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: MUC5B
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: MUC5B
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: MUC5B
Phenotype: Orthodeoxia (HP:0033367)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: MUC5B
Phenotype: Acrocyanosis (HP:0001063)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: MUC5B
Phenotype: Usual interstitial pneumonia (HP:0031950)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: MUC5B
Phenotype: Usual interstitial pneumonia (HP:0031950)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: MUC5B
Phenotype: Cough (HP:0012735)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: MUC5B
Phenotype: Cough (HP:0012735)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: MUC5B
Phenotype: Decreased DLCO (HP:0045051)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: MUC5B
Phenotype: Decreased DLCO (HP:0045051)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: MUC5B
Phenotype: Crackles (HP:0030830)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: MUC5B
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: MUC5B
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: MUC5B
Phenotype: Fatigue (HP:0012378)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: MUC5B
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: MUC5B
Phenotype: Alveolar cell carcinoma (HP:0006519)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: MUC5B
Phenotype: Subpleural honeycombing (HP:0031631)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: MUC5B
Phenotype: Elevated bronchoalveolar lavage fluid neutrophil proportion (HP:0032977)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: D2HGDH
Phenotype: Subependymal cysts (HP:0002416)
Associated disease: D-2-HYDROXYGLUTARIC ACIDURIA 1 (OMIM:600721)
Gene: D2HGDH
Phenotype: Seizure (HP:0001250)
Associated disease: D-2-HYDROXYGLUTARIC ACIDURIA 1 (OMIM:600721)
Gene: D2HGDH
Phenotype: Hypotonia (HP:0001252)
Associated disease: D-2-HYDROXYGLUTARIC ACIDURIA 1 (OMIM:600721)
Gene: D2HGDH
Phenotype: Intellectual disability (HP:0001249)
Associated disease: D-2-HYDROXYGLUTARIC ACIDURIA 1 (OMIM:600721)
Gene: D2HGDH
Phenotype: Global developmental delay (HP:0001263)
Associated disease: D-2-HYDROXYGLUTARIC ACIDURIA 1 (OMIM:600721)
Gene: D2HGDH
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: D-2-HYDROXYGLUTARIC ACIDURIA 1 (OMIM:600721)
Gene: D2HGDH
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: D-2-HYDROXYGLUTARIC ACIDURIA 1 (OMIM:600721)
Gene: D2HGDH
Phenotype: Muscle weakness (HP:0001324)
Associated disease: D-2-HYDROXYGLUTARIC ACIDURIA 1 (OMIM:600721)
Gene: D2HGDH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: D-2-HYDROXYGLUTARIC ACIDURIA 1 (OMIM:600721)
Gene: D2HGDH
Phenotype: Frontal bossing (HP:0002007)
Associated disease: D-2-HYDROXYGLUTARIC ACIDURIA 1 (OMIM:600721)
Gene: D2HGDH
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: D-2-HYDROXYGLUTARIC ACIDURIA 1 (OMIM:600721)
Gene: D2HGDH
Phenotype: Apnea (HP:0002104)
Associated disease: D-2-HYDROXYGLUTARIC ACIDURIA 1 (OMIM:600721)
Gene: D2HGDH
Phenotype: Elevated CSF D-2-hydroxyglutaric acid concentration (HP:6000246)
Associated disease: D-2-HYDROXYGLUTARIC ACIDURIA 1 (OMIM:600721)
Gene: D2HGDH
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: D-2-HYDROXYGLUTARIC ACIDURIA 1 (OMIM:600721)
Gene: D2HGDH
Phenotype: Infantile onset (HP:0003593)
Associated disease: D-2-HYDROXYGLUTARIC ACIDURIA 1 (OMIM:600721)
Gene: D2HGDH
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: D-2-HYDROXYGLUTARIC ACIDURIA 1 (OMIM:600721)
Gene: D2HGDH
Phenotype: Multifocal cerebral white matter abnormalities (HP:0007052)
Associated disease: D-2-HYDROXYGLUTARIC ACIDURIA 1 (OMIM:600721)
Gene: D2HGDH
Phenotype: Infantile encephalopathy (HP:0007105)
Associated disease: D-2-HYDROXYGLUTARIC ACIDURIA 1 (OMIM:600721)
Gene: D2HGDH
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: D-2-HYDROXYGLUTARIC ACIDURIA 1 (OMIM:600721)
Gene: D2HGDH
Phenotype: Glutaric aciduria (HP:0003150)
Associated disease: D-2-HYDROXYGLUTARIC ACIDURIA 1 (OMIM:600721)
Gene: D2HGDH
Phenotype: Macrocephaly (HP:0000256)
Associated disease: D-2-HYDROXYGLUTARIC ACIDURIA 1 (OMIM:600721)
Gene: D2HGDH
Phenotype: D-2-hydroxyglutaric aciduria (HP:0012321)
Associated disease: D-2-HYDROXYGLUTARIC ACIDURIA 1 (OMIM:600721)
Gene: D2HGDH
Phenotype: Tonic seizure (HP:0032792)
Associated disease: D-2-HYDROXYGLUTARIC ACIDURIA 1 (OMIM:600721)
Gene: D2HGDH
Phenotype: Micrognathia (HP:0000347)
Associated disease: D-2-HYDROXYGLUTARIC ACIDURIA 1 (OMIM:600721)
Gene: D2HGDH
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: D-2-HYDROXYGLUTARIC ACIDURIA 1 (OMIM:600721)
Gene: D2HGDH
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: D-2-HYDROXYGLUTARIC ACIDURIA 1 (OMIM:600721)
Gene: D2HGDH
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: D-2-HYDROXYGLUTARIC ACIDURIA 1 (OMIM:600721)
Gene: D2HGDH
Phenotype: Inspiratory stridor (HP:0005348)
Associated disease: D-2-HYDROXYGLUTARIC ACIDURIA 1 (OMIM:600721)