TaoMedAI/RareMedData huggingface dataset:
Gene: HLA-DRB1
Phenotype: Dyspareunia (HP:0030016)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: HLA-DRB1
Phenotype: Female sexual dysfunction (HP:0030014)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DRB1
Phenotype: Ascites (HP:0001541)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: HLA-DRB1
Phenotype: Glossitis (HP:0000206)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Growth delay (HP:0001510)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: HLA-DRB1
Phenotype: Obesity (HP:0001513)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DRB1
Phenotype: Fatigue (HP:0012378)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Fatigue (HP:0012378)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: HLA-DRB1
Phenotype: Fatigue (HP:0012378)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Fatigue (HP:0012378)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Fatigue (HP:0012378)
Associated disease: aPAP; Autoimmune pulmonary alveolar proteinosis; Autoimmune PAP (ORPHA:747)
Gene: HLA-DRB1
Phenotype: Gastrointestinal infarctions (HP:0005244)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Impaired mastication (HP:0005216)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Intraalveolar phospholipid accumulation (HP:0006517)
Associated disease: aPAP; Autoimmune pulmonary alveolar proteinosis; Autoimmune PAP (ORPHA:747)
Gene: HLA-DRB1
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Abnormal cerebrospinal fluid morphology (HP:0002921)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Tinnitus (HP:0000360)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: HLA-DRB1
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Abnormal bowel sounds (HP:0030142)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: HLA-DRB1
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Abnormal liver parenchyma morphology (HP:0030146)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: HLA-DRB1
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Bullous pemphigoid (ORPHA:703)
Gene: HLA-DRB1
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: HLA-DRB1
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: HLA-DRB1
Phenotype: Jaw claudication (HP:0030164)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Night sweats (HP:0030166)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: HLA-DRB1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: HLA-DRB1
Phenotype: Ocular hypertension (HP:0007906)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: HLA-DRB1
Phenotype: Elevated bronchoalveolar lavage fluid lymphocyte proportion (HP:0032976)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Abnormal eyelash morphology (HP:0000499)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: HLA-DRB1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: HLA-DRB1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Pericarditis (HP:0001701)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Pericarditis (HP:0001701)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: HLA-DRB1
Phenotype: Retinopathy (HP:0000488)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Restless legs (HP:0012452)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DRB1
Phenotype: Abnormal skin morphology (HP:0011121)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Chorioretinitis (HP:0012424)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Abnormal nasal mucosa morphology (HP:0000433)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Hypoxemia (HP:0012418)
Associated disease: aPAP; Autoimmune pulmonary alveolar proteinosis; Autoimmune PAP (ORPHA:747)
Gene: HLA-DRB1
Phenotype: Hypoxemia (HP:0012418)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: HLA-DRB1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: HLA-DRB1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Epistaxis (HP:0000421)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Increased alpha-globulin (HP:0005413)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Cataract (HP:0000518)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Cataract (HP:0000518)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: HLA-DRB1
Phenotype: Weight loss (HP:0001824)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Weight loss (HP:0001824)
Associated disease: Bullous pemphigoid (ORPHA:703)
Gene: HLA-DRB1
Phenotype: Weight loss (HP:0001824)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: HLA-DRB1
Phenotype: Weight loss (HP:0001824)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Weight loss (HP:0001824)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Weight loss (HP:0001824)
Associated disease: aPAP; Autoimmune pulmonary alveolar proteinosis; Autoimmune PAP (ORPHA:747)
Gene: HLA-DRB1
Phenotype: Weight loss (HP:0001824)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Ptosis (HP:0000508)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Abnormal conjunctiva morphology (HP:0000502)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: HLA-DRB1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: HLA-DRB1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Glaucoma (HP:0000501)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: HLA-DRB1
Phenotype: Uveitis (HP:0000554)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Uveitis (HP:0000554)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: HLA-DRB1
Phenotype: Uveitis (HP:0000554)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Visual loss (HP:0000572)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Abnormality of thrombocytes (HP:0001872)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: HLA-DRB1
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: HLA-DRB1
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Pancytopenia (HP:0001876)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-G
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Gene: HLA-G
Phenotype: Non-Mendelian inheritance (HP:0001426)
Associated disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Gene: HLA-G
Phenotype: Asthma (HP:0002099)
Associated disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Gene: HLA-G
Phenotype: Bronchoconstriction (HP:4000007)
Associated disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Gene: HLA-G
Phenotype: Airway hyperresponsiveness (HP:0032933)
Associated disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Gene: HLCS
Phenotype: Elevated urinary 3-methylcrotonylglycine level (HP:0033596)
Associated disease: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY (OMIM:253270)
Gene: HLCS
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY (OMIM:253270)
Gene: HLCS
Phenotype: Hypertonia (HP:0001276)
Associated disease: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY (OMIM:253270)
Gene: HLCS
Phenotype: Lethargy (HP:0001254)
Associated disease: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY (OMIM:253270)
Gene: HLCS
Phenotype: Lethargy (HP:0001254)
Associated disease: Early-onset multiple carboxylase deficiency; Holocarboxylase synthetase deficiency; Neonatal multiple carboxylase deficiency (ORPHA:79242)
Gene: HLCS
Phenotype: Seizure (HP:0001250)
Associated disease: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY (OMIM:253270)
Gene: HLCS
Phenotype: Seizure (HP:0001250)
Associated disease: Early-onset multiple carboxylase deficiency; Holocarboxylase synthetase deficiency; Neonatal multiple carboxylase deficiency (ORPHA:79242)
Gene: HLCS
Phenotype: Hypotonia (HP:0001252)
Associated disease: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY (OMIM:253270)
Gene: HLCS
Phenotype: Hypotonia (HP:0001252)
Associated disease: Early-onset multiple carboxylase deficiency; Holocarboxylase synthetase deficiency; Neonatal multiple carboxylase deficiency (ORPHA:79242)
Gene: HLCS
Phenotype: Ataxia (HP:0001251)
Associated disease: Early-onset multiple carboxylase deficiency; Holocarboxylase synthetase deficiency; Neonatal multiple carboxylase deficiency (ORPHA:79242)
Gene: HLCS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY (OMIM:253270)
Gene: HLCS
Phenotype: Coma (HP:0001259)
Associated disease: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY (OMIM:253270)
Gene: HLCS
Phenotype: Coma (HP:0001259)
Associated disease: Early-onset multiple carboxylase deficiency; Holocarboxylase synthetase deficiency; Neonatal multiple carboxylase deficiency (ORPHA:79242)
Gene: HLCS
Phenotype: Desquamation of skin soon after birth (HP:0007549)
Associated disease: Early-onset multiple carboxylase deficiency; Holocarboxylase synthetase deficiency; Neonatal multiple carboxylase deficiency (ORPHA:79242)
Gene: HLCS
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY (OMIM:253270)
Gene: HLCS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY (OMIM:253270)
Gene: HLCS
Phenotype: Tachypnea (HP:0002789)
Associated disease: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY (OMIM:253270)
Gene: HLCS
Phenotype: Tachypnea (HP:0002789)
Associated disease: Early-onset multiple carboxylase deficiency; Holocarboxylase synthetase deficiency; Neonatal multiple carboxylase deficiency (ORPHA:79242)
Gene: HLCS
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Early-onset multiple carboxylase deficiency; Holocarboxylase synthetase deficiency; Neonatal multiple carboxylase deficiency (ORPHA:79242)
Gene: HLCS
Phenotype: Vomiting (HP:0002013)
Associated disease: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY (OMIM:253270)
Gene: HLCS
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Early-onset multiple carboxylase deficiency; Holocarboxylase synthetase deficiency; Neonatal multiple carboxylase deficiency (ORPHA:79242)
Gene: HLCS
Phenotype: Anorexia (HP:0002039)
Associated disease: Early-onset multiple carboxylase deficiency; Holocarboxylase synthetase deficiency; Neonatal multiple carboxylase deficiency (ORPHA:79242)
Gene: HLCS
Phenotype: 3-hydroxyisovaleric aciduria (HP:0033111)
Associated disease: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY (OMIM:253270)
Gene: HLCS
Phenotype: Keratoconjunctivitis (HP:0001096)
Associated disease: Early-onset multiple carboxylase deficiency; Holocarboxylase synthetase deficiency; Neonatal multiple carboxylase deficiency (ORPHA:79242)
Gene: HLCS
Phenotype: Neonatal onset (HP:0003623)
Associated disease: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY (OMIM:253270)
Gene: HLCS
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY (OMIM:253270)
Gene: HLCS
Phenotype: Organic aciduria (HP:0001992)
Associated disease: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY (OMIM:253270)
Gene: HLCS
Phenotype: Organic aciduria (HP:0001992)
Associated disease: Early-onset multiple carboxylase deficiency; Holocarboxylase synthetase deficiency; Neonatal multiple carboxylase deficiency (ORPHA:79242)
Gene: HLCS
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY (OMIM:253270)
Gene: HLCS
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: Early-onset multiple carboxylase deficiency; Holocarboxylase synthetase deficiency; Neonatal multiple carboxylase deficiency (ORPHA:79242)
Gene: HLCS
Phenotype: Irritability (HP:0000737)
Associated disease: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY (OMIM:253270)
Gene: HLCS
Phenotype: Irritability (HP:0000737)
Associated disease: Early-onset multiple carboxylase deficiency; Holocarboxylase synthetase deficiency; Neonatal multiple carboxylase deficiency (ORPHA:79242)
Gene: HLCS
Phenotype: Reduced holocarboxylase synthetase activity in cultured fibroblasts (HP:4000200)
Associated disease: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY (OMIM:253270)
Gene: HLCS
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY (OMIM:253270)
Gene: HLCS
Phenotype: Skin rash (HP:0000988)
Associated disease: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY (OMIM:253270)
Gene: HLCS
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Early-onset multiple carboxylase deficiency; Holocarboxylase synthetase deficiency; Neonatal multiple carboxylase deficiency (ORPHA:79242)
Gene: HLCS
Phenotype: Alopecia (HP:0001596)
Associated disease: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY (OMIM:253270)
Gene: HLCS
Phenotype: Alopecia (HP:0001596)
Associated disease: Early-onset multiple carboxylase deficiency; Holocarboxylase synthetase deficiency; Neonatal multiple carboxylase deficiency (ORPHA:79242)
Gene: HLCS
Phenotype: Hyperventilation (HP:0002883)
Associated disease: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY (OMIM:253270)
Gene: HLCS
Phenotype: Growth delay (HP:0001510)
Associated disease: Early-onset multiple carboxylase deficiency; Holocarboxylase synthetase deficiency; Neonatal multiple carboxylase deficiency (ORPHA:79242)
Gene: HLCS
Phenotype: Perioral eczema (HP:0011127)
Associated disease: Early-onset multiple carboxylase deficiency; Holocarboxylase synthetase deficiency; Neonatal multiple carboxylase deficiency (ORPHA:79242)
Gene: HLCS
Phenotype: Weight loss (HP:0001824)
Associated disease: Early-onset multiple carboxylase deficiency; Holocarboxylase synthetase deficiency; Neonatal multiple carboxylase deficiency (ORPHA:79242)
Gene: HLCS
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY (OMIM:253270)
Gene: HLCS
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Early-onset multiple carboxylase deficiency; Holocarboxylase synthetase deficiency; Neonatal multiple carboxylase deficiency (ORPHA:79242)
Gene: HMBS
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620711)
Gene: HMBS
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Elevated urinary coproporphyrin level (HP:6000536)
Associated disease: ENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620704)
Gene: HMBS
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620711)
Gene: HMBS
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Confusion (HP:0001289)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Seizure (HP:0001250)
Associated disease: PORPHYRIA, ACUTE INTERMITTENT (OMIM:176000)
Gene: HMBS
Phenotype: Seizure (HP:0001250)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Ataxia (HP:0001251)
Associated disease: ENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620704)
Gene: HMBS
Phenotype: Ataxia (HP:0001251)
Associated disease: LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620711)
Gene: HMBS
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: ENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620704)
Gene: HMBS
Phenotype: Ileus (HP:0002595)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620704)
Gene: HMBS
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Paralytic ileus (HP:0002590)
Associated disease: PORPHYRIA, ACUTE INTERMITTENT (OMIM:176000)
Gene: HMBS
Phenotype: Coma (HP:0001259)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620711)
Gene: HMBS
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: PORPHYRIA, ACUTE INTERMITTENT (OMIM:176000)
Gene: HMBS
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Urinary retention (HP:0000016)
Associated disease: PORPHYRIA, ACUTE INTERMITTENT (OMIM:176000)
Gene: HMBS
Phenotype: Urinary retention (HP:0000016)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: ENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620704)
Gene: HMBS
Phenotype: Muscle weakness (HP:0001324)
Associated disease: PORPHYRIA, ACUTE INTERMITTENT (OMIM:176000)
Gene: HMBS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620704)
Gene: HMBS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620711)
Gene: HMBS
Phenotype: Tremor (HP:0001337)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PORPHYRIA, ACUTE INTERMITTENT (OMIM:176000)
Gene: HMBS
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: Acute intermittent porphyria (ORPHA:79276)