TaoMedAI/RareMedData huggingface dataset:
Gene: ALDH6A1
Phenotype: Epicanthus (HP:0000286)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Gene: ALDH6A1
Phenotype: Microcephaly (HP:0000252)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Gene: ALDH6A1
Phenotype: High palate (HP:0000218)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Gene: ALDH6A1
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Gene: ALDH6A1
Phenotype: Methylmalonic acidemia (HP:0002912)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Gene: ALDH6A1
Phenotype: Long philtrum (HP:0000343)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Gene: ALDH6A1
Phenotype: High forehead (HP:0000348)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Gene: ALDH6A1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Gene: ALDH6A1
Phenotype: Short philtrum (HP:0000322)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Gene: ALDH6A1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Gene: ALDH6A1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Gene: ALDH6A1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Gene: ALDH6A1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Gene: ALDH6A1
Phenotype: Cataract (HP:0000518)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Gene: ALDH6A1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
Gene: MN1
Phenotype: Duane anomaly (HP:0009921)
Associated disease: CEBALID SYNDROME (OMIM:618774)
Gene: MN1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CEBALID SYNDROME (OMIM:618774)
Gene: MN1
Phenotype: Motor delay (HP:0001270)
Associated disease: CEBALID SYNDROME (OMIM:618774)
Gene: MN1
Phenotype: Seizure (HP:0001250)
Associated disease: CEBALID SYNDROME (OMIM:618774)
Gene: MN1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CEBALID SYNDROME (OMIM:618774)
Gene: MN1
Phenotype: Polyphagia (HP:0002591)
Associated disease: CEBALID SYNDROME (OMIM:618774)
Gene: MN1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: CEBALID SYNDROME (OMIM:618774)
Gene: MN1
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO (OMIM:607174)
Gene: MN1
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: CEBALID SYNDROME (OMIM:618774)
Gene: MN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CEBALID SYNDROME (OMIM:618774)
Gene: MN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO (OMIM:607174)
Gene: MN1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: CEBALID SYNDROME (OMIM:618774)
Gene: MN1
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: CEBALID SYNDROME (OMIM:618774)
Gene: MN1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: CEBALID SYNDROME (OMIM:618774)
Gene: MN1
Phenotype: Adult onset (HP:0003581)
Associated disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO (OMIM:607174)
Gene: MN1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CEBALID SYNDROME (OMIM:618774)
Gene: MN1
Phenotype: Nystagmus (HP:0000639)
Associated disease: CEBALID SYNDROME (OMIM:618774)
Gene: MN1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: CEBALID SYNDROME (OMIM:618774)
Gene: MN1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CEBALID SYNDROME (OMIM:618774)
Gene: MN1
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: CEBALID SYNDROME (OMIM:618774)
Gene: MN1
Phenotype: Short nose (HP:0003196)
Associated disease: CEBALID SYNDROME (OMIM:618774)
Gene: MN1
Phenotype: Platystencephaly (HP:0033011)
Associated disease: CEBALID SYNDROME (OMIM:618774)
Gene: MN1
Phenotype: Turricephaly (HP:0000262)
Associated disease: CEBALID SYNDROME (OMIM:618774)
Gene: MN1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: CEBALID SYNDROME (OMIM:618774)
Gene: MN1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: CEBALID SYNDROME (OMIM:618774)
Gene: MN1
Phenotype: High palate (HP:0000218)
Associated disease: CEBALID SYNDROME (OMIM:618774)
Gene: MN1
Phenotype: Meningioma (HP:0002858)
Associated disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO (OMIM:607174)
Gene: MN1
Phenotype: Flat face (HP:0012368)
Associated disease: CEBALID SYNDROME (OMIM:618774)
Gene: MN1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: CEBALID SYNDROME (OMIM:618774)
Gene: MN1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CEBALID SYNDROME (OMIM:618774)
Gene: MN1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: CEBALID SYNDROME (OMIM:618774)
Gene: MN1
Phenotype: Low-set ears (HP:0000369)
Associated disease: CEBALID SYNDROME (OMIM:618774)
Gene: MN1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: CEBALID SYNDROME (OMIM:618774)
Gene: MN1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CEBALID SYNDROME (OMIM:618774)
Gene: MN1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CEBALID SYNDROME (OMIM:618774)
Gene: MN1
Phenotype: Strabismus (HP:0000486)
Associated disease: CEBALID SYNDROME (OMIM:618774)
Gene: MN1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CEBALID SYNDROME (OMIM:618774)
Gene: MN1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CEBALID SYNDROME (OMIM:618774)
Gene: MN1
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: CEBALID SYNDROME (OMIM:618774)
Gene: MN1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: CEBALID SYNDROME (OMIM:618774)
Gene: MN1
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: CEBALID SYNDROME (OMIM:618774)
Gene: MOCS1
Phenotype: Xanthinuria (HP:0010934)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Myoclonic spasms (HP:0003739)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Seizure (HP:0001250)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Abnormal muscle tone (HP:0003808)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Lens luxation (HP:0012019)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Decreased urinary sulfate (HP:0003359)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Increased urinary hypoxanthine level (HP:0011814)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Axonal loss (HP:0003447)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Decreased urinary urate (HP:0011935)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Opisthotonus (HP:0002179)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Gliosis (HP:0002171)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Molybdenum cofactor deficiency (HP:0003570)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Hypouricemia (HP:0003537)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Reduced xanthine dehydrogenase level (HP:0003534)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Increased urinary sulfite level (HP:0011942)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Increased urinary thiosulfate (HP:0011943)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Progressive (HP:0003676)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Sulfite oxidase deficiency (HP:0003643)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Absent urinary urothione (HP:0003606)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Elevated urinary S-sulfocysteine level (HP:0034744)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Nystagmus (HP:0000639)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Xanthine nephrolithiasis (HP:0000804)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Short nose (HP:0003196)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Increased urinary taurine (HP:0003166)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Full cheeks (HP:0000293)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Long face (HP:0000276)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Growth delay (HP:0001510)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Peripheral demyelination (HP:0011096)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Aldehyde oxidase deficiency (HP:0002932)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Long philtrum (HP:0000343)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS1
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Gene: MOCS2
Phenotype: Xanthinuria (HP:0010934)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Myoclonic spasms (HP:0003739)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Hypertonia (HP:0001276)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Seizure (HP:0001250)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Hypotonia (HP:0001252)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Neonatal death (HP:0003811)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Lens luxation (HP:0012019)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Increased urinary hypoxanthine level (HP:0011814)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Axonal loss (HP:0003447)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Decreased urinary urate (HP:0011935)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Opisthotonus (HP:0002179)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Gliosis (HP:0002171)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Molybdenum cofactor deficiency (HP:0003570)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Hypouricemia (HP:0003537)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Increased urinary sulfite level (HP:0011942)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Progressive (HP:0003676)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Nystagmus (HP:0000639)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Xanthine nephrolithiasis (HP:0000804)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Irritability (HP:0000737)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Short nose (HP:0003196)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Increased urinary taurine (HP:0003166)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Full cheeks (HP:0000293)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Long face (HP:0000276)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Microcephaly (HP:0000252)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Growth delay (HP:0001510)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Peripheral demyelination (HP:0011096)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Long philtrum (HP:0000343)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOCS2
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (OMIM:252160)
Gene: MOG
Phenotype: Abnormal rapid eye movement sleep (HP:0002494)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: MOG
Phenotype: NREM parasomnia (HP:0025235)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: MOG
Phenotype: Sleep paralysis (HP:0025233)
Associated disease: NARCOLEPSY 7 (OMIM:614250)
Gene: MOG
Phenotype: Sleep paralysis (HP:0025233)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: MOG
Phenotype: Syncope (HP:0001279)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: MOG
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: MOG
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: NARCOLEPSY 7 (OMIM:614250)
Gene: MOG
Phenotype: Hypnagogic hallucination (HP:0002519)
Associated disease: NARCOLEPSY 7 (OMIM:614250)
Gene: MOG
Phenotype: Hypnagogic hallucination (HP:0002519)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: MOG
Phenotype: Cataplexy (HP:0002524)
Associated disease: NARCOLEPSY 7 (OMIM:614250)
Gene: MOG
Phenotype: Cataplexy (HP:0002524)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: MOG
Phenotype: Slurred speech (HP:0001350)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: MOG
Phenotype: Nocturia (HP:0000017)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: MOG
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NARCOLEPSY 7 (OMIM:614250)
Gene: MOG
Phenotype: Abnormal pupillary function (HP:0007686)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: MOG
Phenotype: Constipation (HP:0002019)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: MOG
Phenotype: Male sexual dysfunction (HP:0040307)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: MOG
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: NARCOLEPSY 7 (OMIM:614250)
Gene: MOG
Phenotype: Migraine (HP:0002076)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: MOG
Phenotype: Sleep apnea (HP:0010535)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: MOG
Phenotype: Transient global amnesia (HP:0010534)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: MOG
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: MOG
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: MOG
Phenotype: Drooling (HP:0002307)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: MOG
Phenotype: Hypnopompic hallucination (HP:0006896)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: MOG
Phenotype: Hallucinations (HP:0000738)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: MOG
Phenotype: Anxiety (HP:0000739)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: MOG
Phenotype: Depression (HP:0000716)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: MOG
Phenotype: Restlessness (HP:0000711)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: MOG
Phenotype: Psychosis (HP:0000709)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: MOG
Phenotype: Young adult onset (HP:0011462)
Associated disease: NARCOLEPSY 7 (OMIM:614250)
Gene: MOG
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)