TaoMedAI/RareMedData huggingface dataset:
Gene: PRPF8
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF8
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF8
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF8
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 13 (OMIM:600059)
Gene: PRPF8
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF8
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF8
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF8
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF8
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: RETINITIS PIGMENTOSA 13 (OMIM:600059)
Gene: PRPF8
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF8
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 13 (OMIM:600059)
Gene: PRPF8
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF8
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF8
Phenotype: Subcapsular cataract (HP:0000523)
Associated disease: RETINITIS PIGMENTOSA 13 (OMIM:600059)
Gene: PRPF8
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF8
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF8
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF8
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF8
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF8
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: RETINITIS PIGMENTOSA 13 (OMIM:600059)
Gene: PRPF8
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF8
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF8
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF8
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLCO1B1
Phenotype: Digenic inheritance (HP:0010984)
Associated disease: HYPERBILIRUBINEMIA, ROTOR TYPE (OMIM:237450)
Gene: SLCO1B1
Phenotype: Storage in hepatocytes (HP:0031137)
Associated disease: Hyperbilirubinemia, Rotor type; Rotor syndrome (ORPHA:3111)
Gene: SLCO1B1
Phenotype: Porphyrinuria (HP:0010473)
Associated disease: Hyperbilirubinemia, Rotor type; Rotor syndrome (ORPHA:3111)
Gene: SLCO1B1
Phenotype: Intermittent jaundice (HP:0001046)
Associated disease: Hyperbilirubinemia, Rotor type; Rotor syndrome (ORPHA:3111)
Gene: SLCO1B1
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: HYPERBILIRUBINEMIA, ROTOR TYPE (OMIM:237450)
Gene: SLCO1B1
Phenotype: Conjunctival icterus (HP:0032106)
Associated disease: Hyperbilirubinemia, Rotor type; Rotor syndrome (ORPHA:3111)
Gene: SLCO1B1
Phenotype: Bilirubinuria (HP:0031811)
Associated disease: Hyperbilirubinemia, Rotor type; Rotor syndrome (ORPHA:3111)
Gene: SLCO1B1
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: HYPERBILIRUBINEMIA, ROTOR TYPE (OMIM:237450)
Gene: SLCO1B1
Phenotype: Pruritus (HP:0000989)
Associated disease: Hyperbilirubinemia, Rotor type; Rotor syndrome (ORPHA:3111)
Gene: SLCO1B1
Phenotype: Jaundice (HP:0000952)
Associated disease: HYPERBILIRUBINEMIA, ROTOR TYPE (OMIM:237450)
Gene: SLCO1B1
Phenotype: Jaundice (HP:0000952)
Associated disease: Hyperbilirubinemia, Rotor type; Rotor syndrome (ORPHA:3111)
Gene: SLCO1B1
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Hyperbilirubinemia, Rotor type; Rotor syndrome (ORPHA:3111)
Gene: SLCO1B1
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: HYPERBILIRUBINEMIA, ROTOR TYPE (OMIM:237450)
Gene: SLCO1B1
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: Hyperbilirubinemia, Rotor type; Rotor syndrome (ORPHA:3111)
Gene: SLCO1B1
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: Hyperbilirubinemia, Rotor type; Rotor syndrome (ORPHA:3111)
Gene: PAICS
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY (OMIM:619859)
Gene: PAICS
Phenotype: Coronal hypospadias (HP:0008743)
Associated disease: PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY (OMIM:619859)
Gene: PAICS
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY (OMIM:619859)
Gene: PAICS
Phenotype: Neonatal death (HP:0003811)
Associated disease: PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY (OMIM:619859)
Gene: PAICS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY (OMIM:619859)
Gene: PAICS
Phenotype: Esophageal atresia (HP:0002032)
Associated disease: PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY (OMIM:619859)
Gene: PAICS
Phenotype: Lumbar hemivertebrae (HP:0008439)
Associated disease: PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY (OMIM:619859)
Gene: PAICS
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY (OMIM:619859)
Gene: PAICS
Phenotype: Short stature (HP:0004322)
Associated disease: PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY (OMIM:619859)
Gene: PAICS
Phenotype: Fetal onset (HP:0011461)
Associated disease: PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY (OMIM:619859)
Gene: PAICS
Phenotype: Short nose (HP:0003196)
Associated disease: PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY (OMIM:619859)
Gene: PAICS
Phenotype: Missing ribs (HP:0000921)
Associated disease: PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY (OMIM:619859)
Gene: PAICS
Phenotype: Bilateral choanal atresia (HP:0004502)
Associated disease: PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY (OMIM:619859)
Gene: PAICS
Phenotype: Brachycephaly (HP:0000248)
Associated disease: PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY (OMIM:619859)
Gene: PAICS
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY (OMIM:619859)
Gene: PAICS
Phenotype: Flat face (HP:0012368)
Associated disease: PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY (OMIM:619859)
Gene: PAICS
Phenotype: Low-set ears (HP:0000369)
Associated disease: PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY (OMIM:619859)
Gene: PAICS
Phenotype: Hypertelorism (HP:0000316)
Associated disease: PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY (OMIM:619859)
Gene: PAICS
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY (OMIM:619859)
Gene: PAICS
Phenotype: Anteverted nares (HP:0000463)
Associated disease: PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY (OMIM:619859)
Gene: PAICS
Phenotype: Short neck (HP:0000470)
Associated disease: PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY (OMIM:619859)
Gene: PAICS
Phenotype: Choanal atresia (HP:0000453)
Associated disease: PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY (OMIM:619859)
Gene: PAICS
Phenotype: Choanal stenosis (HP:0000452)
Associated disease: PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY (OMIM:619859)
Gene: PAICS
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY (OMIM:619859)
Gene: ERLIN1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPG62; Autosomal recessive spastic paraplegia type 62 (ORPHA:401785)
Gene: ERLIN1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE (OMIM:615681)
Gene: ERLIN1
Phenotype: Areflexia (HP:0001284)
Associated disease: SPG62; Autosomal recessive spastic paraplegia type 62 (ORPHA:401785)
Gene: ERLIN1
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPG62; Autosomal recessive spastic paraplegia type 62 (ORPHA:401785)
Gene: ERLIN1
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE (OMIM:615681)
Gene: ERLIN1
Phenotype: Spasticity (HP:0001257)
Associated disease: SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE (OMIM:615681)
Gene: ERLIN1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPG62; Autosomal recessive spastic paraplegia type 62 (ORPHA:401785)
Gene: ERLIN1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE (OMIM:615681)
Gene: ERLIN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE (OMIM:615681)
Gene: ERLIN1
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: SPG62; Autosomal recessive spastic paraplegia type 62 (ORPHA:401785)
Gene: ERLIN1
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE (OMIM:615681)
Gene: ERLIN1
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPG62; Autosomal recessive spastic paraplegia type 62 (ORPHA:401785)
Gene: ERLIN1
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE (OMIM:615681)
Gene: ERLIN1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPG62; Autosomal recessive spastic paraplegia type 62 (ORPHA:401785)
Gene: ERLIN1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE (OMIM:615681)
Gene: ERLIN1
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE (OMIM:615681)
Gene: ERLIN1
Phenotype: Clonus (HP:0002169)
Associated disease: SPG62; Autosomal recessive spastic paraplegia type 62 (ORPHA:401785)
Gene: ERLIN1
Phenotype: Fasciculations (HP:0002380)
Associated disease: SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE (OMIM:615681)
Gene: ERLIN1
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE (OMIM:615681)
Gene: ERLIN1
Phenotype: Progressive (HP:0003676)
Associated disease: SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE (OMIM:615681)
Gene: ERLIN1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE (OMIM:615681)
Gene: ERLIN1
Phenotype: Absent patellar reflexes (HP:0006844)
Associated disease: SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE (OMIM:615681)
Gene: ERLIN1
Phenotype: Hoffmann sign (HP:0031993)
Associated disease: SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE (OMIM:615681)
Gene: ERLIN1
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE (OMIM:615681)
Gene: ERLIN1
Phenotype: Ankle clonus (HP:0011448)
Associated disease: SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE (OMIM:615681)
Gene: ERLIN1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: SPG62; Autosomal recessive spastic paraplegia type 62 (ORPHA:401785)
Gene: ERLIN1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE (OMIM:615681)
Gene: ERLIN1
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: SPG62; Autosomal recessive spastic paraplegia type 62 (ORPHA:401785)
Gene: ERLIN1
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: SPG62; Autosomal recessive spastic paraplegia type 62 (ORPHA:401785)
Gene: ERLIN1
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE (OMIM:615681)
Gene: ERLIN1
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: SPG62; Autosomal recessive spastic paraplegia type 62 (ORPHA:401785)
Gene: ERLIN1
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE (OMIM:615681)
Gene: ERLIN1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: SPG62; Autosomal recessive spastic paraplegia type 62 (ORPHA:401785)
Gene: RBCK1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Seizure (HP:0001250)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Hematochezia (HP:0002573)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Cholestasis (HP:0001396)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Scoliosis (HP:0002650)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Neonatal omphalitis (HP:0032435)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Myalgia (HP:0003326)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Infantile onset (HP:0003593)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Progressive (HP:0003676)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Erythroderma (HP:0001019)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Recurrent fever (HP:0001954)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Anemia (HP:0001903)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Hypoproteinemia (HP:0003075)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Thin skin (HP:0000963)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Lymphadenitis (HP:0002840)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Growth delay (HP:0001510)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: RBCK1
Phenotype: Ptosis (HP:0000508)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Gene: STAMBP
Phenotype: Brachydactyly (HP:0001156)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: Capillary malformation (HP:0025104)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: Seizure (HP:0001250)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: Hypotonia (HP:0001252)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: Myoclonus (HP:0001336)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: Cleft palate (HP:0000175)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: Abnormal hair whorl (HP:0010721)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: Short stature (HP:0004322)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: Short nose (HP:0003196)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: Clinodactyly (HP:0030084)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: Hypoplastic hippocampus (HP:0025517)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: Low-set ears (HP:0000369)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: Sloping forehead (HP:0000340)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: Right ventricular hypertrophy (HP:0001667)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: Infantile spasms (HP:0012469)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: Small nail (HP:0001792)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: Delayed myelination (HP:0012448)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: Wide nose (HP:0000445)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Gene: STAMBP
Phenotype: Ptosis (HP:0000508)
Associated disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)