TaoMedAI/RareMedData huggingface dataset:
Gene: MCAT
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: OPTIC ATROPHY 15 (OMIM:620583)
Gene: MCAT
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: OPTIC ATROPHY 15 (OMIM:620583)
Gene: MCAT
Phenotype: Headache (HP:0002315)
Associated disease: OPTIC ATROPHY 15 (OMIM:620583)
Gene: MCAT
Phenotype: Juvenile onset (HP:0003621)
Associated disease: OPTIC ATROPHY 15 (OMIM:620583)
Gene: MCAT
Phenotype: Nystagmus (HP:0000639)
Associated disease: OPTIC ATROPHY 15 (OMIM:620583)
Gene: MCAT
Phenotype: Optic atrophy (HP:0000648)
Associated disease: OPTIC ATROPHY 15 (OMIM:620583)
Gene: MCAT
Phenotype: Photophobia (HP:0000613)
Associated disease: OPTIC ATROPHY 15 (OMIM:620583)
Gene: MCAT
Phenotype: Central scotoma (HP:0000603)
Associated disease: OPTIC ATROPHY 15 (OMIM:620583)
Gene: MCAT
Phenotype: Young adult onset (HP:0011462)
Associated disease: OPTIC ATROPHY 15 (OMIM:620583)
Gene: MCAT
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: OPTIC ATROPHY 15 (OMIM:620583)
Gene: HTRA2
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
Gene: HTRA2
Phenotype: Panic attack (HP:0025269)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: HTRA2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
Gene: HTRA2
Phenotype: Hypertonia (HP:0001276)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
Gene: HTRA2
Phenotype: Seizure (HP:0001250)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
Gene: HTRA2
Phenotype: Hypotonia (HP:0001252)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
Gene: HTRA2
Phenotype: Gastroparesis (HP:0002578)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: HTRA2
Phenotype: Spasticity (HP:0001257)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: HTRA2
Phenotype: Parkinsonism with favorable response to dopaminergic medication (HP:0002548)
Associated disease: PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:610297)
Gene: HTRA2
Phenotype: Neonatal death (HP:0003811)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
Gene: HTRA2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: HTRA2
Phenotype: Dystonia (HP:0001332)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: HTRA2
Phenotype: Dystonia (HP:0001332)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
Gene: HTRA2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
Gene: HTRA2
Phenotype: Tremor (HP:0001337)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: HTRA2
Phenotype: Tremor (HP:0001337)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
Gene: HTRA2
Phenotype: Tremor (HP:0001337)
Associated disease: PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:610297)
Gene: HTRA2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:610297)
Gene: HTRA2
Phenotype: Nausea (HP:0002018)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: HTRA2
Phenotype: Constipation (HP:0002019)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: HTRA2
Phenotype: Poor suck (HP:0002033)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
Gene: HTRA2
Phenotype: Male sexual dysfunction (HP:0040307)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: HTRA2
Phenotype: Diarrhea (HP:0002014)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: HTRA2
Phenotype: Dysphagia (HP:0002015)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
Gene: HTRA2
Phenotype: 3-Methylglutaric aciduria (HP:0003344)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
Gene: HTRA2
Phenotype: Respiratory arrest (HP:0005943)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
Gene: HTRA2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: HTRA2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: HTRA2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:610297)
Gene: HTRA2
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: HTRA2
Phenotype: Rigidity (HP:0002063)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: HTRA2
Phenotype: Rigidity (HP:0002063)
Associated disease: PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:610297)
Gene: HTRA2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
Gene: HTRA2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
Gene: HTRA2
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: HTRA2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
Gene: HTRA2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
Gene: HTRA2
Phenotype: Apnea (HP:0002104)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
Gene: HTRA2
Phenotype: Clonus (HP:0002169)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
Gene: HTRA2
Phenotype: Postural instability (HP:0002172)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: HTRA2
Phenotype: Impulsivity (HP:0100710)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: HTRA2
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
Gene: HTRA2
Phenotype: Insomnia (HP:0100785)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: HTRA2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
Gene: HTRA2
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: HTRA2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
Gene: HTRA2
Phenotype: Diplopia (HP:0000651)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: HTRA2
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
Gene: HTRA2
Phenotype: Hallucinations (HP:0000738)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: HTRA2
Phenotype: Anxiety (HP:0000739)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: HTRA2
Phenotype: Short attention span (HP:0000736)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: HTRA2
Phenotype: Apathy (HP:0000741)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: HTRA2
Phenotype: Elevated brain lactate level by MRS (HP:0012707)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
Gene: HTRA2
Phenotype: Depression (HP:0000716)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: HTRA2
Phenotype: Agitation (HP:0000713)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: HTRA2
Phenotype: Frontal lobe dementia (HP:0000727)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: HTRA2
Phenotype: Dementia (HP:0000726)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: HTRA2
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: HTRA2
Phenotype: Hyposmia (HP:0004409)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: HTRA2
Phenotype: Hypopnea (HP:0040213)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
Gene: HTRA2
Phenotype: Jaundice (HP:0000952)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
Gene: HTRA2
Phenotype: Respiratory failure (HP:0002878)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
Gene: HTRA2
Phenotype: Female sexual dysfunction (HP:0030014)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: HTRA2
Phenotype: Death in infancy (HP:0001522)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
Gene: HTRA2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
Gene: HTRA2
Phenotype: Growth delay (HP:0001510)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
Gene: HTRA2
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: HTRA2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
Gene: HTRA2
Phenotype: Bradycardia (HP:0001662)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
Gene: HTRA2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
Gene: HTRA2
Phenotype: Restless legs (HP:0012452)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: HTRA2
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
Gene: HTRA2
Phenotype: Cataract (HP:0000518)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
Gene: HTRA2
Phenotype: Color vision defect (HP:0000551)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: HTRA2
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
Gene: PCLO
Phenotype: Poor head control (HP:0002421)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 3 (OMIM:608027)
Gene: PCLO
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 3 (OMIM:608027)
Gene: PCLO
Phenotype: Seizure (HP:0001250)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 3 (OMIM:608027)
Gene: PCLO
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 3 (OMIM:608027)
Gene: PCLO
Phenotype: Spasticity (HP:0001257)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 3 (OMIM:608027)
Gene: PCLO
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 3 (OMIM:608027)
Gene: PCLO
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 3 (OMIM:608027)
Gene: PCLO
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 3 (OMIM:608027)
Gene: PCLO
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 3 (OMIM:608027)
Gene: PCLO
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 3 (OMIM:608027)
Gene: PCLO
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 3 (OMIM:608027)
Gene: PCLO
Phenotype: High, narrow palate (HP:0002705)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 3 (OMIM:608027)
Gene: PCLO
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 3 (OMIM:608027)
Gene: PCLO
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 3 (OMIM:608027)
Gene: PCLO
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 3 (OMIM:608027)
Gene: PCLO
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 3 (OMIM:608027)
Gene: PCLO
Phenotype: Infantile onset (HP:0003593)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 3 (OMIM:608027)
Gene: PCLO
Phenotype: Congenital onset (HP:0003577)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 3 (OMIM:608027)
Gene: PCLO
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 3 (OMIM:608027)
Gene: PCLO
Phenotype: Progressive (HP:0003676)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 3 (OMIM:608027)
Gene: PCLO
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 3 (OMIM:608027)
Gene: PCLO
Phenotype: Optic atrophy (HP:0000648)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 3 (OMIM:608027)
Gene: PCLO
Phenotype: Decreased body weight (HP:0004325)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 3 (OMIM:608027)
Gene: PCLO
Phenotype: Short stature (HP:0004322)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 3 (OMIM:608027)
Gene: PCLO
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 3 (OMIM:608027)
Gene: PCLO
Phenotype: Full cheeks (HP:0000293)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 3 (OMIM:608027)
Gene: PCLO
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 3 (OMIM:608027)
Gene: PCLO
Phenotype: Brachycephaly (HP:0000248)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 3 (OMIM:608027)
Gene: PCLO
Phenotype: High palate (HP:0000218)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 3 (OMIM:608027)
Gene: PCLO
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 3 (OMIM:608027)
Gene: PCLO
Phenotype: Low-set ears (HP:0000369)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 3 (OMIM:608027)
Gene: PCLO
Phenotype: Long philtrum (HP:0000343)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 3 (OMIM:608027)
Gene: PCLO
Phenotype: Macrotia (HP:0000400)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 3 (OMIM:608027)
Gene: PCLO
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 3 (OMIM:608027)
Gene: PCLO
Phenotype: Proptosis (HP:0000520)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 3 (OMIM:608027)
Gene: PCLO
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 3 (OMIM:608027)
Gene: SLCO1B3
Phenotype: Digenic inheritance (HP:0010984)
Associated disease: HYPERBILIRUBINEMIA, ROTOR TYPE (OMIM:237450)
Gene: SLCO1B3
Phenotype: Storage in hepatocytes (HP:0031137)
Associated disease: Hyperbilirubinemia, Rotor type; Rotor syndrome (ORPHA:3111)
Gene: SLCO1B3
Phenotype: Porphyrinuria (HP:0010473)
Associated disease: Hyperbilirubinemia, Rotor type; Rotor syndrome (ORPHA:3111)
Gene: SLCO1B3
Phenotype: Intermittent jaundice (HP:0001046)
Associated disease: Hyperbilirubinemia, Rotor type; Rotor syndrome (ORPHA:3111)
Gene: SLCO1B3
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: HYPERBILIRUBINEMIA, ROTOR TYPE (OMIM:237450)
Gene: SLCO1B3
Phenotype: Conjunctival icterus (HP:0032106)
Associated disease: Hyperbilirubinemia, Rotor type; Rotor syndrome (ORPHA:3111)
Gene: SLCO1B3
Phenotype: Bilirubinuria (HP:0031811)
Associated disease: Hyperbilirubinemia, Rotor type; Rotor syndrome (ORPHA:3111)
Gene: SLCO1B3
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: HYPERBILIRUBINEMIA, ROTOR TYPE (OMIM:237450)
Gene: SLCO1B3
Phenotype: Pruritus (HP:0000989)
Associated disease: Hyperbilirubinemia, Rotor type; Rotor syndrome (ORPHA:3111)
Gene: SLCO1B3
Phenotype: Jaundice (HP:0000952)
Associated disease: HYPERBILIRUBINEMIA, ROTOR TYPE (OMIM:237450)
Gene: SLCO1B3
Phenotype: Jaundice (HP:0000952)
Associated disease: Hyperbilirubinemia, Rotor type; Rotor syndrome (ORPHA:3111)
Gene: SLCO1B3
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Hyperbilirubinemia, Rotor type; Rotor syndrome (ORPHA:3111)
Gene: SLCO1B3
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: HYPERBILIRUBINEMIA, ROTOR TYPE (OMIM:237450)
Gene: SLCO1B3
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: Hyperbilirubinemia, Rotor type; Rotor syndrome (ORPHA:3111)
Gene: SLCO1B3
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: Hyperbilirubinemia, Rotor type; Rotor syndrome (ORPHA:3111)
Gene: DLL1
Phenotype: Poor speech (HP:0002465)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: DLL1
Phenotype: Poor speech (HP:0002465)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: DLL1
Phenotype: Poor speech (HP:0002465)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: DLL1
Phenotype: Poor speech (HP:0002465)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: DLL1
Phenotype: Expressive language delay (HP:0002474)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: DLL1
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: DLL1
Phenotype: Limb dystonia (HP:0002451)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: DLL1
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: DLL1
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: DLL1
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: DLL1
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: DLL1
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: DLL1
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: DLL1
Phenotype: Single naris (HP:0009932)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: DLL1
Phenotype: Single naris (HP:0009932)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: DLL1
Phenotype: Single naris (HP:0009932)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: DLL1
Phenotype: Single naris (HP:0009932)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: DLL1
Phenotype: Cyclopia (HP:0009914)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: DLL1
Phenotype: Cyclopia (HP:0009914)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: DLL1
Phenotype: Cyclopia (HP:0009914)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: DLL1
Phenotype: Cyclopia (HP:0009914)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: DLL1
Phenotype: Cyclopia (HP:0009914)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: DLL1
Phenotype: Abnormal midbrain morphology (HP:0002418)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: DLL1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: DLL1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: DLL1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: DLL1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: DLL1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: DLL1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: DLL1
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES (OMIM:618709)
Gene: DLL1
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: DLL1
Phenotype: Lethargy (HP:0001254)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: DLL1
Phenotype: Lethargy (HP:0001254)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: DLL1
Phenotype: Lethargy (HP:0001254)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: DLL1
Phenotype: Lethargy (HP:0001254)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: DLL1
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES (OMIM:618709)
Gene: DLL1
Phenotype: Seizure (HP:0001250)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: DLL1
Phenotype: Seizure (HP:0001250)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: DLL1
Phenotype: Seizure (HP:0001250)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: DLL1
Phenotype: Seizure (HP:0001250)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: DLL1
Phenotype: Seizure (HP:0001250)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)