TaoMedAI/RareMedData huggingface dataset:
Gene: PYGM
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Glycogen storage disease type 5; GSD type V; Glycogenosis type V; Glycogen storage disease due to muscle glycogen phosphorylase deficiency; McArdle disease; Glycogenosis due to muscle glycogen phosphorylase deficiency; GSD due to muscle glycogen phosphorylase deficiency; Glycogen storage disease type V; GSD type 5; Myophosphorylase deficiency; Glycogenosis type 5 (ORPHA:368)
Gene: PYGM
Phenotype: Muscle weakness (HP:0001324)
Associated disease: GLYCOGEN STORAGE DISEASE V (OMIM:232600)
Gene: PYGM
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLYCOGEN STORAGE DISEASE V (OMIM:232600)
Gene: PYGM
Phenotype: Exercise-induced muscle stiffness (HP:0008967)
Associated disease: Glycogen storage disease type 5; GSD type V; Glycogenosis type V; Glycogen storage disease due to muscle glycogen phosphorylase deficiency; McArdle disease; Glycogenosis due to muscle glycogen phosphorylase deficiency; GSD due to muscle glycogen phosphorylase deficiency; Glycogen storage disease type V; GSD type 5; Myophosphorylase deficiency; Glycogenosis type 5 (ORPHA:368)
Gene: PYGM
Phenotype: Postexertional symptom exacerbation (HP:0030973)
Associated disease: Glycogen storage disease type 5; GSD type V; Glycogenosis type V; Glycogen storage disease due to muscle glycogen phosphorylase deficiency; McArdle disease; Glycogenosis due to muscle glycogen phosphorylase deficiency; GSD due to muscle glycogen phosphorylase deficiency; Glycogen storage disease type V; GSD type 5; Myophosphorylase deficiency; Glycogenosis type 5 (ORPHA:368)
Gene: PYGM
Phenotype: Dark urine (HP:0040319)
Associated disease: GLYCOGEN STORAGE DISEASE V (OMIM:232600)
Gene: PYGM
Phenotype: Dark urine (HP:0040319)
Associated disease: Glycogen storage disease type 5; GSD type V; Glycogenosis type V; Glycogen storage disease due to muscle glycogen phosphorylase deficiency; McArdle disease; Glycogenosis due to muscle glycogen phosphorylase deficiency; GSD due to muscle glycogen phosphorylase deficiency; Glycogen storage disease type V; GSD type 5; Myophosphorylase deficiency; Glycogenosis type 5 (ORPHA:368)
Gene: PYGM
Phenotype: Dysphagia (HP:0002015)
Associated disease: Glycogen storage disease type 5; GSD type V; Glycogenosis type V; Glycogen storage disease due to muscle glycogen phosphorylase deficiency; McArdle disease; Glycogenosis due to muscle glycogen phosphorylase deficiency; GSD due to muscle glycogen phosphorylase deficiency; Glycogen storage disease type V; GSD type 5; Myophosphorylase deficiency; Glycogenosis type 5 (ORPHA:368)
Gene: PYGM
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: GLYCOGEN STORAGE DISEASE V (OMIM:232600)
Gene: PYGM
Phenotype: Middle age onset (HP:0003596)
Associated disease: GLYCOGEN STORAGE DISEASE V (OMIM:232600)
Gene: PYGM
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: GLYCOGEN STORAGE DISEASE V (OMIM:232600)
Gene: PYGM
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Glycogen storage disease type 5; GSD type V; Glycogenosis type V; Glycogen storage disease due to muscle glycogen phosphorylase deficiency; McArdle disease; Glycogenosis due to muscle glycogen phosphorylase deficiency; GSD due to muscle glycogen phosphorylase deficiency; Glycogen storage disease type V; GSD type 5; Myophosphorylase deficiency; Glycogenosis type 5 (ORPHA:368)
Gene: PYGM
Phenotype: Failure to elevate ammonia on ischemic exercise (HP:6000320)
Associated disease: GLYCOGEN STORAGE DISEASE V (OMIM:232600)
Gene: PYGM
Phenotype: Reduced muscle glycogen phosphorylase activity (HP:6000358)
Associated disease: GLYCOGEN STORAGE DISEASE V (OMIM:232600)
Gene: PYGM
Phenotype: Exercise-induced myoglobinuria (HP:0008305)
Associated disease: Glycogen storage disease type 5; GSD type V; Glycogenosis type V; Glycogen storage disease due to muscle glycogen phosphorylase deficiency; McArdle disease; Glycogenosis due to muscle glycogen phosphorylase deficiency; GSD due to muscle glycogen phosphorylase deficiency; Glycogen storage disease type V; GSD type 5; Myophosphorylase deficiency; Glycogenosis type 5 (ORPHA:368)
Gene: PYGM
Phenotype: Recurrent myoglobinuria (HP:0003652)
Associated disease: Glycogen storage disease type 5; GSD type V; Glycogenosis type V; Glycogen storage disease due to muscle glycogen phosphorylase deficiency; McArdle disease; Glycogenosis due to muscle glycogen phosphorylase deficiency; GSD due to muscle glycogen phosphorylase deficiency; Glycogen storage disease type V; GSD type 5; Myophosphorylase deficiency; Glycogenosis type 5 (ORPHA:368)
Gene: PYGM
Phenotype: Juvenile onset (HP:0003621)
Associated disease: GLYCOGEN STORAGE DISEASE V (OMIM:232600)
Gene: PYGM
Phenotype: Progressive proximal muscle weakness (HP:0009073)
Associated disease: Glycogen storage disease type 5; GSD type V; Glycogenosis type V; Glycogen storage disease due to muscle glycogen phosphorylase deficiency; McArdle disease; Glycogenosis due to muscle glycogen phosphorylase deficiency; GSD due to muscle glycogen phosphorylase deficiency; Glycogen storage disease type V; GSD type 5; Myophosphorylase deficiency; Glycogenosis type 5 (ORPHA:368)
Gene: PYGM
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Glycogen storage disease type 5; GSD type V; Glycogenosis type V; Glycogen storage disease due to muscle glycogen phosphorylase deficiency; McArdle disease; Glycogenosis due to muscle glycogen phosphorylase deficiency; GSD due to muscle glycogen phosphorylase deficiency; Glycogen storage disease type V; GSD type 5; Myophosphorylase deficiency; Glycogenosis type 5 (ORPHA:368)
Gene: PYGM
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: Glycogen storage disease type 5; GSD type V; Glycogenosis type V; Glycogen storage disease due to muscle glycogen phosphorylase deficiency; McArdle disease; Glycogenosis due to muscle glycogen phosphorylase deficiency; GSD due to muscle glycogen phosphorylase deficiency; Glycogen storage disease type V; GSD type 5; Myophosphorylase deficiency; Glycogenosis type 5 (ORPHA:368)
Gene: PYGM
Phenotype: Increased muscle glycogen content (HP:0009051)
Associated disease: Glycogen storage disease type 5; GSD type V; Glycogenosis type V; Glycogen storage disease due to muscle glycogen phosphorylase deficiency; McArdle disease; Glycogenosis due to muscle glycogen phosphorylase deficiency; GSD due to muscle glycogen phosphorylase deficiency; Glycogen storage disease type V; GSD type 5; Myophosphorylase deficiency; Glycogenosis type 5 (ORPHA:368)
Gene: PYGM
Phenotype: Exercise-induced rhabdomyolysis (HP:0009045)
Associated disease: GLYCOGEN STORAGE DISEASE V (OMIM:232600)
Gene: PYGM
Phenotype: Childhood onset (HP:0011463)
Associated disease: GLYCOGEN STORAGE DISEASE V (OMIM:232600)
Gene: PYGM
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Glycogen storage disease type 5; GSD type V; Glycogenosis type V; Glycogen storage disease due to muscle glycogen phosphorylase deficiency; McArdle disease; Glycogenosis due to muscle glycogen phosphorylase deficiency; GSD due to muscle glycogen phosphorylase deficiency; Glycogen storage disease type V; GSD type 5; Myophosphorylase deficiency; Glycogenosis type 5 (ORPHA:368)
Gene: PYGM
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: GLYCOGEN STORAGE DISEASE V (OMIM:232600)
Gene: PYGM
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Glycogen storage disease type 5; GSD type V; Glycogenosis type V; Glycogen storage disease due to muscle glycogen phosphorylase deficiency; McArdle disease; Glycogenosis due to muscle glycogen phosphorylase deficiency; GSD due to muscle glycogen phosphorylase deficiency; Glycogen storage disease type V; GSD type 5; Myophosphorylase deficiency; Glycogenosis type 5 (ORPHA:368)
Gene: PYGM
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: GLYCOGEN STORAGE DISEASE V (OMIM:232600)
Gene: PYGM
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: Glycogen storage disease type 5; GSD type V; Glycogenosis type V; Glycogen storage disease due to muscle glycogen phosphorylase deficiency; McArdle disease; Glycogenosis due to muscle glycogen phosphorylase deficiency; GSD due to muscle glycogen phosphorylase deficiency; Glycogen storage disease type V; GSD type 5; Myophosphorylase deficiency; Glycogenosis type 5 (ORPHA:368)
Gene: PYGM
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Glycogen storage disease type 5; GSD type V; Glycogenosis type V; Glycogen storage disease due to muscle glycogen phosphorylase deficiency; McArdle disease; Glycogenosis due to muscle glycogen phosphorylase deficiency; GSD due to muscle glycogen phosphorylase deficiency; Glycogen storage disease type V; GSD type 5; Myophosphorylase deficiency; Glycogenosis type 5 (ORPHA:368)
Gene: PYGM
Phenotype: Fatigue (HP:0012378)
Associated disease: Glycogen storage disease type 5; GSD type V; Glycogenosis type V; Glycogen storage disease due to muscle glycogen phosphorylase deficiency; McArdle disease; Glycogenosis due to muscle glycogen phosphorylase deficiency; GSD due to muscle glycogen phosphorylase deficiency; Glycogen storage disease type V; GSD type 5; Myophosphorylase deficiency; Glycogenosis type 5 (ORPHA:368)
Gene: PYGM
Phenotype: Impaired mastication (HP:0005216)
Associated disease: Glycogen storage disease type 5; GSD type V; Glycogenosis type V; Glycogen storage disease due to muscle glycogen phosphorylase deficiency; McArdle disease; Glycogenosis due to muscle glycogen phosphorylase deficiency; GSD due to muscle glycogen phosphorylase deficiency; Glycogen storage disease type V; GSD type 5; Myophosphorylase deficiency; Glycogenosis type 5 (ORPHA:368)
Gene: PYGM
Phenotype: Myoglobinuria (HP:0002913)
Associated disease: GLYCOGEN STORAGE DISEASE V (OMIM:232600)
Gene: PYGM
Phenotype: Tachycardia (HP:0001649)
Associated disease: Glycogen storage disease type 5; GSD type V; Glycogenosis type V; Glycogen storage disease due to muscle glycogen phosphorylase deficiency; McArdle disease; Glycogenosis due to muscle glycogen phosphorylase deficiency; GSD due to muscle glycogen phosphorylase deficiency; Glycogen storage disease type V; GSD type 5; Myophosphorylase deficiency; Glycogenosis type 5 (ORPHA:368)
Gene: PYGM
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Glycogen storage disease type 5; GSD type V; Glycogenosis type V; Glycogen storage disease due to muscle glycogen phosphorylase deficiency; McArdle disease; Glycogenosis due to muscle glycogen phosphorylase deficiency; GSD due to muscle glycogen phosphorylase deficiency; Glycogen storage disease type V; GSD type 5; Myophosphorylase deficiency; Glycogenosis type 5 (ORPHA:368)
Gene: PYGM
Phenotype: Highly elevated creatine kinase (HP:0030234)
Associated disease: Glycogen storage disease type 5; GSD type V; Glycogenosis type V; Glycogen storage disease due to muscle glycogen phosphorylase deficiency; McArdle disease; Glycogenosis due to muscle glycogen phosphorylase deficiency; GSD due to muscle glycogen phosphorylase deficiency; Glycogen storage disease type V; GSD type 5; Myophosphorylase deficiency; Glycogenosis type 5 (ORPHA:368)
Gene: PYGM
Phenotype: Glycogen accumulation in muscle fiber lysosomes (HP:0030231)
Associated disease: Glycogen storage disease type 5; GSD type V; Glycogenosis type V; Glycogen storage disease due to muscle glycogen phosphorylase deficiency; McArdle disease; Glycogenosis due to muscle glycogen phosphorylase deficiency; GSD due to muscle glycogen phosphorylase deficiency; Glycogen storage disease type V; GSD type 5; Myophosphorylase deficiency; Glycogenosis type 5 (ORPHA:368)
Gene: QARS1
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
Gene: QARS1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
Gene: QARS1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
Gene: QARS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
Gene: QARS1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
Gene: QARS1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
Gene: QARS1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
Gene: QARS1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
Gene: QARS1
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
Gene: QARS1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
Gene: QARS1
Phenotype: Progressive (HP:0003676)
Associated disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
Gene: QARS1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
Gene: QARS1
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
Gene: QARS1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
Gene: QARS1
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
Gene: QARS1
Phenotype: Epicanthus (HP:0000286)
Associated disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
Gene: QARS1
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
Gene: QARS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
Gene: QARS1
Phenotype: High palate (HP:0000218)
Associated disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
Gene: QARS1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
Gene: QARS1
Phenotype: Low-set ears (HP:0000369)
Associated disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
Gene: QARS1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
Gene: QARS1
Phenotype: Sloping forehead (HP:0000340)
Associated disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
Gene: QARS1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
Gene: QARS1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
Gene: QDPR
Phenotype: Excessive salivation (HP:0003781)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C (OMIM:261630)
Gene: QDPR
Phenotype: Hypertonia (HP:0001276)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C (OMIM:261630)
Gene: QDPR
Phenotype: Seizure (HP:0001250)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C (OMIM:261630)
Gene: QDPR
Phenotype: Hypotonia (HP:0001252)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C (OMIM:261630)
Gene: QDPR
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Phenylketonuria type 2; Hyperphenylalaninemia due to dihydropteridine reductase deficiency; PKU type 2; Dihydropteridine reductase deficiency (ORPHA:226)
Gene: QDPR
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C (OMIM:261630)
Gene: QDPR
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C (OMIM:261630)
Gene: QDPR
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Phenylketonuria type 2; Hyperphenylalaninemia due to dihydropteridine reductase deficiency; PKU type 2; Dihydropteridine reductase deficiency (ORPHA:226)
Gene: QDPR
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C (OMIM:261630)
Gene: QDPR
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C (OMIM:261630)
Gene: QDPR
Phenotype: Variable expressivity (HP:0003828)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C (OMIM:261630)
Gene: QDPR
Phenotype: Dystonia (HP:0001332)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C (OMIM:261630)
Gene: QDPR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C (OMIM:261630)
Gene: QDPR
Phenotype: Tremor (HP:0001337)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C (OMIM:261630)
Gene: QDPR
Phenotype: Myoclonus (HP:0001336)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C (OMIM:261630)
Gene: QDPR
Phenotype: Diminished tissue dihydropteridine reductase activity (HP:6000966)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C (OMIM:261630)
Gene: QDPR
Phenotype: Dysphagia (HP:0002015)
Associated disease: Phenylketonuria type 2; Hyperphenylalaninemia due to dihydropteridine reductase deficiency; PKU type 2; Dihydropteridine reductase deficiency (ORPHA:226)
Gene: QDPR
Phenotype: Dysphagia (HP:0002015)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C (OMIM:261630)
Gene: QDPR
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C (OMIM:261630)
Gene: QDPR
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C (OMIM:261630)
Gene: QDPR
Phenotype: Hyperphenylalaninemia (HP:0004923)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C (OMIM:261630)
Gene: QDPR
Phenotype: Recurrent fever (HP:0001954)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C (OMIM:261630)
Gene: QDPR
Phenotype: Irritability (HP:0000737)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C (OMIM:261630)
Gene: QDPR
Phenotype: Microcephaly (HP:0000252)
Associated disease: Phenylketonuria type 2; Hyperphenylalaninemia due to dihydropteridine reductase deficiency; PKU type 2; Dihydropteridine reductase deficiency (ORPHA:226)
Gene: QDPR
Phenotype: Microcephaly (HP:0000252)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C (OMIM:261630)
Gene: RAB27A
Phenotype: Hypertonia (HP:0001276)
Associated disease: Griscelli-Pruniéras syndrome type 2; Griscelli syndrome type 2; Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome (ORPHA:79477)
Gene: RAB27A
Phenotype: Seizure (HP:0001250)
Associated disease: GRISCELLI SYNDROME, TYPE 2 (OMIM:607624)
Gene: RAB27A
Phenotype: Seizure (HP:0001250)
Associated disease: Griscelli-Pruniéras syndrome type 2; Griscelli syndrome type 2; Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome (ORPHA:79477)
Gene: RAB27A
Phenotype: Spasticity (HP:0001257)
Associated disease: GRISCELLI SYNDROME, TYPE 2 (OMIM:607624)
Gene: RAB27A
Phenotype: Partial albinism (HP:0007443)
Associated disease: Griscelli-Pruniéras syndrome type 2; Griscelli syndrome type 2; Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome (ORPHA:79477)
Gene: RAB27A
Phenotype: Death in childhood (HP:0003819)
Associated disease: GRISCELLI SYNDROME, TYPE 2 (OMIM:607624)
Gene: RAB27A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GRISCELLI SYNDROME, TYPE 2 (OMIM:607624)
Gene: RAB27A
Phenotype: Hemophagocytosis (HP:0012156)
Associated disease: GRISCELLI SYNDROME, TYPE 2 (OMIM:607624)
Gene: RAB27A
Phenotype: Hemophagocytosis (HP:0012156)
Associated disease: Griscelli-Pruniéras syndrome type 2; Griscelli syndrome type 2; Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome (ORPHA:79477)
Gene: RAB27A
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: GRISCELLI SYNDROME, TYPE 2 (OMIM:607624)
Gene: RAB27A
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: GRISCELLI SYNDROME, TYPE 2 (OMIM:607624)
Gene: RAB27A
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Griscelli-Pruniéras syndrome type 2; Griscelli syndrome type 2; Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome (ORPHA:79477)
Gene: RAB27A
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Griscelli-Pruniéras syndrome type 2; Griscelli syndrome type 2; Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome (ORPHA:79477)
Gene: RAB27A
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Griscelli-Pruniéras syndrome type 2; Griscelli syndrome type 2; Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome (ORPHA:79477)
Gene: RAB27A
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: Griscelli-Pruniéras syndrome type 2; Griscelli syndrome type 2; Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome (ORPHA:79477)
Gene: RAB27A
Phenotype: Infantile onset (HP:0003593)
Associated disease: GRISCELLI SYNDROME, TYPE 2 (OMIM:607624)
Gene: RAB27A
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Griscelli-Pruniéras syndrome type 2; Griscelli syndrome type 2; Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome (ORPHA:79477)
Gene: RAB27A
Phenotype: Melanin pigment aggregation in hair shafts (HP:0002220)
Associated disease: GRISCELLI SYNDROME, TYPE 2 (OMIM:607624)
Gene: RAB27A
Phenotype: Silver-gray hair (HP:0002218)
Associated disease: GRISCELLI SYNDROME, TYPE 2 (OMIM:607624)
Gene: RAB27A
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: Griscelli-Pruniéras syndrome type 2; Griscelli syndrome type 2; Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome (ORPHA:79477)
Gene: RAB27A
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: GRISCELLI SYNDROME, TYPE 2 (OMIM:607624)
Gene: RAB27A
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: GRISCELLI SYNDROME, TYPE 2 (OMIM:607624)
Gene: RAB27A
Phenotype: Accumulation of melanosomes in melanocytes (HP:0001008)
Associated disease: GRISCELLI SYNDROME, TYPE 2 (OMIM:607624)
Gene: RAB27A
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Griscelli-Pruniéras syndrome type 2; Griscelli syndrome type 2; Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome (ORPHA:79477)
Gene: RAB27A
Phenotype: Fever (HP:0001945)
Associated disease: Griscelli-Pruniéras syndrome type 2; Griscelli syndrome type 2; Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome (ORPHA:79477)
Gene: RAB27A
Phenotype: Fever (HP:0001945)
Associated disease: GRISCELLI SYNDROME, TYPE 2 (OMIM:607624)
Gene: RAB27A
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: Griscelli-Pruniéras syndrome type 2; Griscelli syndrome type 2; Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome (ORPHA:79477)
Gene: RAB27A
Phenotype: Jaundice (HP:0000952)
Associated disease: Griscelli-Pruniéras syndrome type 2; Griscelli syndrome type 2; Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome (ORPHA:79477)