TaoMedAI/RareMedData huggingface dataset:
Gene: SFTPA1
Phenotype: Intralobular septal thickening (HP:0033638)
Associated disease: INTERSTITIAL LUNG DISEASE 1 (OMIM:619611)
Gene: SFTPA1
Phenotype: Reduced forced vital capacity (HP:0032341)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA1
Phenotype: Reticular pattern on pulmonary HRCT (HP:0025390)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INTERSTITIAL LUNG DISEASE 1 (OMIM:619611)
Gene: SFTPA1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA1
Phenotype: Dyspnea (HP:0002094)
Associated disease: INTERSTITIAL LUNG DISEASE 1 (OMIM:619611)
Gene: SFTPA1
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: INTERSTITIAL LUNG DISEASE 1 (OMIM:619611)
Gene: SFTPA1
Phenotype: Pulmonic regurgitation (HP:0010444)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA1
Phenotype: Middle age onset (HP:0003596)
Associated disease: INTERSTITIAL LUNG DISEASE 1 (OMIM:619611)
Gene: SFTPA1
Phenotype: Late onset (HP:0003584)
Associated disease: INTERSTITIAL LUNG DISEASE 1 (OMIM:619611)
Gene: SFTPA1
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA1
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA1
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA1
Phenotype: Orthodeoxia (HP:0033367)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA1
Phenotype: Acrocyanosis (HP:0001063)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA1
Phenotype: Usual interstitial pneumonia (HP:0031950)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA1
Phenotype: Usual interstitial pneumonia (HP:0031950)
Associated disease: INTERSTITIAL LUNG DISEASE 1 (OMIM:619611)
Gene: SFTPA1
Phenotype: Cough (HP:0012735)
Associated disease: INTERSTITIAL LUNG DISEASE 1 (OMIM:619611)
Gene: SFTPA1
Phenotype: Cough (HP:0012735)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA1
Phenotype: Young adult onset (HP:0011462)
Associated disease: INTERSTITIAL LUNG DISEASE 1 (OMIM:619611)
Gene: SFTPA1
Phenotype: Interlobular septal thickening (HP:0030879)
Associated disease: INTERSTITIAL LUNG DISEASE 1 (OMIM:619611)
Gene: SFTPA1
Phenotype: Decreased DLCO (HP:0045051)
Associated disease: INTERSTITIAL LUNG DISEASE 1 (OMIM:619611)
Gene: SFTPA1
Phenotype: Decreased DLCO (HP:0045051)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA1
Phenotype: Crackles (HP:0030830)
Associated disease: INTERSTITIAL LUNG DISEASE 1 (OMIM:619611)
Gene: SFTPA1
Phenotype: Crackles (HP:0030830)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA1
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA1
Phenotype: Fatigue (HP:0012378)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA1
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA1
Phenotype: Subpleural honeycombing (HP:0031631)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA1
Phenotype: Elevated bronchoalveolar lavage fluid neutrophil proportion (HP:0032977)
Associated disease: INTERSTITIAL LUNG DISEASE 1 (OMIM:619611)
Gene: SFTPA1
Phenotype: Elevated bronchoalveolar lavage fluid eosinophil proportion (HP:0032987)
Associated disease: INTERSTITIAL LUNG DISEASE 1 (OMIM:619611)
Gene: SNORA31
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 10 (OMIM:619396)
Gene: SNORA31
Phenotype: Herpes simplex encephalitis (HP:0012302)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 10 (OMIM:619396)
Gene: ATXN8
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8
Phenotype: Spastic dysarthria (HP:0002464)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: SPINOCEREBELLAR ATAXIA 8 (OMIM:608768)
Gene: ATXN8
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA 8 (OMIM:608768)
Gene: ATXN8
Phenotype: Ataxia (HP:0001251)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA 8 (OMIM:608768)
Gene: ATXN8
Phenotype: Spasticity (HP:0001257)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8
Phenotype: Spasticity (HP:0001257)
Associated disease: SPINOCEREBELLAR ATAXIA 8 (OMIM:608768)
Gene: ATXN8
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8
Phenotype: Dystonia (HP:0001332)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8
Phenotype: Tremor (HP:0001337)
Associated disease: SPINOCEREBELLAR ATAXIA 8 (OMIM:608768)
Gene: ATXN8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINOCEREBELLAR ATAXIA 8 (OMIM:608768)
Gene: ATXN8
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8
Phenotype: Dysphagia (HP:0002015)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPINOCEREBELLAR ATAXIA 8 (OMIM:608768)
Gene: ATXN8
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8
Phenotype: Rigidity (HP:0002063)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8
Phenotype: Abnormal pyramidal tract morphology (HP:0002062)
Associated disease: SPINOCEREBELLAR ATAXIA 8 (OMIM:608768)
Gene: ATXN8
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: SPINOCEREBELLAR ATAXIA 8 (OMIM:608768)
Gene: ATXN8
Phenotype: Limb ataxia (HP:0002070)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8
Phenotype: Postural instability (HP:0002172)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: SPINOCEREBELLAR ATAXIA 8 (OMIM:608768)
Gene: ATXN8
Phenotype: Incoordination (HP:0002311)
Associated disease: SPINOCEREBELLAR ATAXIA 8 (OMIM:608768)
Gene: ATXN8
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8
Phenotype: Nystagmus (HP:0000639)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPINOCEREBELLAR ATAXIA 8 (OMIM:608768)
Gene: ATXN8
Phenotype: Dysmetric saccades (HP:0000641)
Associated disease: SPINOCEREBELLAR ATAXIA 8 (OMIM:608768)
Gene: ATXN8
Phenotype: Impotence (HP:0000802)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: SPINOCEREBELLAR ATAXIA 8 (OMIM:608768)
Gene: ATXN8
Phenotype: Depression (HP:0000716)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8
Phenotype: Facial grimacing (HP:0000273)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8
Phenotype: Impaired smooth pursuit (HP:0007772)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8
Phenotype: Impaired smooth pursuit (HP:0007772)
Associated disease: SPINOCEREBELLAR ATAXIA 8 (OMIM:608768)
Gene: ATXN8
Phenotype: Aspiration (HP:0002835)
Associated disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Gene: ATXN8
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: SPINOCEREBELLAR ATAXIA 8 (OMIM:608768)
Gene: SNORD118
Phenotype: Cerebellar dentate nucleus calcification (HP:0002461)
Associated disease: Leukoencephalopathy with calcifications and cysts; LCC; Labrune syndrome (ORPHA:542310)
Gene: SNORD118
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS (OMIM:614561)
Gene: SNORD118
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Leukoencephalopathy with calcifications and cysts; LCC; Labrune syndrome (ORPHA:542310)
Gene: SNORD118
Phenotype: Intracerebral periventricular calcifications (HP:0007229)
Associated disease: Leukoencephalopathy with calcifications and cysts; LCC; Labrune syndrome (ORPHA:542310)
Gene: SNORD118
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS (OMIM:614561)
Gene: SNORD118
Phenotype: Posterior fossa cyst (HP:0007291)
Associated disease: Leukoencephalopathy with calcifications and cysts; LCC; Labrune syndrome (ORPHA:542310)
Gene: SNORD118
Phenotype: Stroke (HP:0001297)
Associated disease: Leukoencephalopathy with calcifications and cysts; LCC; Labrune syndrome (ORPHA:542310)
Gene: SNORD118
Phenotype: Mental deterioration (HP:0001268)
Associated disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS (OMIM:614561)
Gene: SNORD118
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Leukoencephalopathy with calcifications and cysts; LCC; Labrune syndrome (ORPHA:542310)
Gene: SNORD118
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Leukoencephalopathy with calcifications and cysts; LCC; Labrune syndrome (ORPHA:542310)
Gene: SNORD118
Phenotype: Gait disturbance (HP:0001288)
Associated disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS (OMIM:614561)
Gene: SNORD118
Phenotype: Seizure (HP:0001250)
Associated disease: Leukoencephalopathy with calcifications and cysts; LCC; Labrune syndrome (ORPHA:542310)
Gene: SNORD118
Phenotype: Seizure (HP:0001250)
Associated disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS (OMIM:614561)
Gene: SNORD118
Phenotype: Ataxia (HP:0001251)
Associated disease: Leukoencephalopathy with calcifications and cysts; LCC; Labrune syndrome (ORPHA:542310)
Gene: SNORD118
Phenotype: Ataxia (HP:0001251)
Associated disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS (OMIM:614561)
Gene: SNORD118
Phenotype: Dysarthria (HP:0001260)
Associated disease: Leukoencephalopathy with calcifications and cysts; LCC; Labrune syndrome (ORPHA:542310)
Gene: SNORD118
Phenotype: Dysarthria (HP:0001260)
Associated disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS (OMIM:614561)
Gene: SNORD118
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Leukoencephalopathy with calcifications and cysts; LCC; Labrune syndrome (ORPHA:542310)
Gene: SNORD118
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS (OMIM:614561)
Gene: SNORD118
Phenotype: Spasticity (HP:0001257)
Associated disease: Leukoencephalopathy with calcifications and cysts; LCC; Labrune syndrome (ORPHA:542310)
Gene: SNORD118
Phenotype: Spasticity (HP:0001257)
Associated disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS (OMIM:614561)
Gene: SNORD118
Phenotype: Subcortical white matter calcifications (HP:0007346)
Associated disease: Leukoencephalopathy with calcifications and cysts; LCC; Labrune syndrome (ORPHA:542310)
Gene: SNORD118
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Leukoencephalopathy with calcifications and cysts; LCC; Labrune syndrome (ORPHA:542310)
Gene: SNORD118
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS (OMIM:614561)
Gene: SNORD118
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Leukoencephalopathy with calcifications and cysts; LCC; Labrune syndrome (ORPHA:542310)
Gene: SNORD118
Phenotype: Dystonia (HP:0001332)
Associated disease: Leukoencephalopathy with calcifications and cysts; LCC; Labrune syndrome (ORPHA:542310)
Gene: SNORD118
Phenotype: Dystonia (HP:0001332)
Associated disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS (OMIM:614561)
Gene: SNORD118
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: Leukoencephalopathy with calcifications and cysts; LCC; Labrune syndrome (ORPHA:542310)
Gene: SNORD118
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS (OMIM:614561)
Gene: SNORD118
Phenotype: Tremor (HP:0001337)
Associated disease: Leukoencephalopathy with calcifications and cysts; LCC; Labrune syndrome (ORPHA:542310)
Gene: SNORD118
Phenotype: Tremor (HP:0001337)
Associated disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS (OMIM:614561)
Gene: SNORD118
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Leukoencephalopathy with calcifications and cysts; LCC; Labrune syndrome (ORPHA:542310)
Gene: SNORD118
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS (OMIM:614561)
Gene: SNORD118
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Leukoencephalopathy with calcifications and cysts; LCC; Labrune syndrome (ORPHA:542310)
Gene: SNORD118
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: Leukoencephalopathy with calcifications and cysts; LCC; Labrune syndrome (ORPHA:542310)
Gene: SNORD118
Phenotype: Intracranial cystic lesion (HP:0010576)
Associated disease: Leukoencephalopathy with calcifications and cysts; LCC; Labrune syndrome (ORPHA:542310)
Gene: SNORD118
Phenotype: Middle age onset (HP:0003596)
Associated disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS (OMIM:614561)
Gene: SNORD118
Phenotype: Infantile onset (HP:0003593)
Associated disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS (OMIM:614561)
Gene: SNORD118
Phenotype: Progressive (HP:0003676)
Associated disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS (OMIM:614561)
Gene: SNORD118
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS (OMIM:614561)
Gene: SNORD118
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: Leukoencephalopathy with calcifications and cysts; LCC; Labrune syndrome (ORPHA:542310)
Gene: SNORD118
Phenotype: Hemiplegia (HP:0002301)
Associated disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS (OMIM:614561)
Gene: SNORD118
Phenotype: Juvenile onset (HP:0003621)
Associated disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS (OMIM:614561)
Gene: SNORD118
Phenotype: Emotional lability (HP:0000712)
Associated disease: Leukoencephalopathy with calcifications and cysts; LCC; Labrune syndrome (ORPHA:542310)
Gene: SNORD118
Phenotype: Psychotic episodes (HP:0000725)
Associated disease: Leukoencephalopathy with calcifications and cysts; LCC; Labrune syndrome (ORPHA:542310)
Gene: SNORD118
Phenotype: Childhood onset (HP:0011463)
Associated disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS (OMIM:614561)
Gene: SNORD118
Phenotype: Young adult onset (HP:0011462)
Associated disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS (OMIM:614561)
Gene: SNORD118
Phenotype: Rosenthal fibers (HP:0100320)
Associated disease: Leukoencephalopathy with calcifications and cysts; LCC; Labrune syndrome (ORPHA:542310)
Gene: SNORD118
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: Leukoencephalopathy with calcifications and cysts; LCC; Labrune syndrome (ORPHA:542310)
Gene: BHLHA9
Phenotype: Preaxial hand polydactyly (HP:0001177)
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: Split hand (HP:0001171)
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: Brachydactyly (HP:0001156)
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: Postaxial hand polydactyly (HP:0001162)
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: Syndactyly (HP:0001159)
Associated disease: CAMPTOSYNPOLYDACTYLY, COMPLEX (OMIM:607539)
Gene: BHLHA9
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BHLHA9
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BHLHA9
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: MSSD; Syndactyly, Malik-Percin type; Mesoaxial synostotic syndactyly with phalangeal reduction; Syndactyly type 9 (ORPHA:157801)
Gene: BHLHA9
Phenotype: Finger syndactyly (HP:0006101)
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: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BHLHA9
Phenotype: 3-4 finger osseus syndactyly (HP:0006097)
Associated disease: SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION (OMIM:609432)
Gene: BHLHA9
Phenotype: Limitation of joint mobility (HP:0001376)
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: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BHLHA9
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BHLHA9
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION (OMIM:609432)
Gene: BHLHA9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CAMPTOSYNPOLYDACTYLY, COMPLEX (OMIM:607539)
Gene: BHLHA9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BHLHA9
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BHLHA9
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BHLHA9
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: MSSD; Syndactyly, Malik-Percin type; Mesoaxial synostotic syndactyly with phalangeal reduction; Syndactyly type 9 (ORPHA:157801)
Gene: BHLHA9
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BHLHA9
Phenotype: Bifid femur (HP:0010443)
Associated disease: Bifid femur-monodactylous ectrodactyly syndrome; Gollop-Wolfgang complex (ORPHA:1986)
Gene: BHLHA9
Phenotype: Polydactyly (HP:0010442)
Associated disease: CAMPTOSYNPOLYDACTYLY, COMPLEX (OMIM:607539)
Gene: BHLHA9
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BHLHA9
Phenotype: Aplasia/Hypoplasia of the thumb (HP:0009601)
Associated disease: SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION (OMIM:609432)
Gene: BHLHA9
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: CAMPTOSYNPOLYDACTYLY, COMPLEX (OMIM:607539)
Gene: BHLHA9
Phenotype: Aplasia/Hypoplasia of the middle phalanx of the 2nd finger (HP:0009568)
Associated disease: SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION (OMIM:609432)
Gene: BHLHA9
Phenotype: Congenital onset (HP:0003577)
Associated disease: SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION (OMIM:609432)
Gene: BHLHA9
Phenotype: Congenital onset (HP:0003577)
Associated disease: CAMPTOSYNPOLYDACTYLY, COMPLEX (OMIM:607539)
Gene: BHLHA9
Phenotype: Toenail dysplasia (HP:0100797)
Associated disease: CAMPTOSYNPOLYDACTYLY, COMPLEX (OMIM:607539)
Gene: BHLHA9
Phenotype: Metacarpal synostosis (HP:0009701)
Associated disease: MSSD; Syndactyly, Malik-Percin type; Mesoaxial synostotic syndactyly with phalangeal reduction; Syndactyly type 9 (ORPHA:157801)