TaoMedAI/RareMedData huggingface dataset:
Gene: OTX2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Autism (HP:0000717)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: OTX2
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OTX2
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OTX2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Infertility (HP:0000789)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: OTX2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OTX2
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: OTX2
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: OTX2
Phenotype: Pituitary dwarfism (HP:0000839)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: OTX2
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: OTX2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OTX2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: OTX2
Phenotype: Hypopituitarism (HP:0040075)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: OTX2
Phenotype: Abnormal prolactin level (HP:0040086)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: OTX2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OTX2
Phenotype: Aplasia/Hypoplasia of the breasts (HP:0010311)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: OTX2
Phenotype: Reduced circulating growth hormone concentration (HP:0034323)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 6 (OMIM:613986)
Gene: OTX2
Phenotype: Dry skin (HP:0000958)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: OTX2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: OTX2
Phenotype: Osteopenia (HP:0000938)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: OTX2
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: OTX2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OTX2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)
Gene: OTX2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OTX2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OTX2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Growth delay (HP:0001510)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: OTX2
Phenotype: Obesity (HP:0001513)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: OTX2
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OTX2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OTX2
Phenotype: Fatigue (HP:0012378)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: OTX2
Phenotype: Fatigue (HP:0012378)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: OTX2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Decreased circulating ACTH concentration (HP:0002920)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: OTX2
Phenotype: Decreased circulating ACTH concentration (HP:0002920)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 6 (OMIM:613986)
Gene: OTX2
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 6 (OMIM:613986)
Gene: OTX2
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)
Gene: OTX2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OTX2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)
Gene: OTX2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OTX2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OTX2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: OTX2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Strabismus (HP:0000486)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: OTX2
Phenotype: Strabismus (HP:0000486)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: OTX2
Phenotype: Microcornea (HP:0000482)
Associated disease: MICROPHTHALMIA, SYNDROMIC 5 (OMIM:610125)
Gene: OTX2
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)
Gene: OTX2
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: OTX2
Phenotype: Anosmia (HP:0000458)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: OTX2
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: OTX2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Abnormal digit morphology (HP:0011297)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: OTX2
Phenotype: Cataract (HP:0000518)
Associated disease: MICROPHTHALMIA, SYNDROMIC 5 (OMIM:610125)
Gene: OTX2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OTX2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Anophthalmia (HP:0000528)
Associated disease: MICROPHTHALMIA, SYNDROMIC 5 (OMIM:610125)
Gene: OTX2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OTX2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: OTX2
Phenotype: Glaucoma (HP:0000501)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: OTX2
Phenotype: Decreased circulating luteinizing hormone level (HP:0030344)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 6 (OMIM:613986)
Gene: OTX2
Phenotype: Decreased circulating follicle stimulating hormone concentration (HP:0030341)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 6 (OMIM:613986)
Gene: OTX2
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OTX2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Coloboma (HP:0000589)
Associated disease: MICROPHTHALMIA, SYNDROMIC 5 (OMIM:610125)
Gene: OTX2
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: MICROPHTHALMIA, SYNDROMIC 5 (OMIM:610125)
Gene: OTX2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: OTX2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MICROPHTHALMIA, SYNDROMIC 5 (OMIM:610125)
Gene: OTX2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OTX2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OTX2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OTX2
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OXCT1
Phenotype: Hyperketonemia (HP:0410175)
Associated disease: SCOT deficiency; OXCT1 deficiency; Succinyl-CoA:3-oxoacid CoA transferase deficiency; Succinyl-CoA acetoacetate transferase deficiency; Succinyl-CoA:3-ketoacid CoA transferase deficiency (ORPHA:832)
Gene: OXCT1
Phenotype: Lethargy (HP:0001254)
Associated disease: SCOT deficiency; OXCT1 deficiency; Succinyl-CoA:3-oxoacid CoA transferase deficiency; Succinyl-CoA acetoacetate transferase deficiency; Succinyl-CoA:3-ketoacid CoA transferase deficiency (ORPHA:832)
Gene: OXCT1
Phenotype: Hypotonia (HP:0001252)
Associated disease: SCOT deficiency; OXCT1 deficiency; Succinyl-CoA:3-oxoacid CoA transferase deficiency; Succinyl-CoA acetoacetate transferase deficiency; Succinyl-CoA:3-ketoacid CoA transferase deficiency (ORPHA:832)
Gene: OXCT1
Phenotype: Coma (HP:0001259)
Associated disease: SCOT deficiency; OXCT1 deficiency; Succinyl-CoA:3-oxoacid CoA transferase deficiency; Succinyl-CoA acetoacetate transferase deficiency; Succinyl-CoA:3-ketoacid CoA transferase deficiency (ORPHA:832)
Gene: OXCT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SUCCINYL-CoA:3-OXOACID-CoA TRANSFERASE DEFICIENCY (OMIM:245050)
Gene: OXCT1
Phenotype: Tachypnea (HP:0002789)
Associated disease: SUCCINYL-CoA:3-OXOACID-CoA TRANSFERASE DEFICIENCY (OMIM:245050)
Gene: OXCT1
Phenotype: Tachypnea (HP:0002789)
Associated disease: SCOT deficiency; OXCT1 deficiency; Succinyl-CoA:3-oxoacid CoA transferase deficiency; Succinyl-CoA acetoacetate transferase deficiency; Succinyl-CoA:3-ketoacid CoA transferase deficiency (ORPHA:832)
Gene: OXCT1
Phenotype: Nausea (HP:0002018)
Associated disease: SCOT deficiency; OXCT1 deficiency; Succinyl-CoA:3-oxoacid CoA transferase deficiency; Succinyl-CoA acetoacetate transferase deficiency; Succinyl-CoA:3-ketoacid CoA transferase deficiency (ORPHA:832)
Gene: OXCT1
Phenotype: Vomiting (HP:0002013)
Associated disease: SUCCINYL-CoA:3-OXOACID-CoA TRANSFERASE DEFICIENCY (OMIM:245050)
Gene: OXCT1
Phenotype: Vomiting (HP:0002013)
Associated disease: SCOT deficiency; OXCT1 deficiency; Succinyl-CoA:3-oxoacid CoA transferase deficiency; Succinyl-CoA acetoacetate transferase deficiency; Succinyl-CoA:3-ketoacid CoA transferase deficiency (ORPHA:832)
Gene: OXCT1
Phenotype: Episodic ketoacidosis (HP:0005974)
Associated disease: SUCCINYL-CoA:3-OXOACID-CoA TRANSFERASE DEFICIENCY (OMIM:245050)
Gene: OXCT1
Phenotype: Reduced succinyl-CoA:3-oxoacid-CoA transferase activity in cultured fibroblasts (HP:6000361)
Associated disease: SUCCINYL-CoA:3-OXOACID-CoA TRANSFERASE DEFICIENCY (OMIM:245050)
Gene: OXCT1
Phenotype: Reduced succinyl-CoA:3-oxoacid-CoA transferase activity in cultured fibroblasts (HP:6000361)
Associated disease: SCOT deficiency; OXCT1 deficiency; Succinyl-CoA:3-oxoacid CoA transferase deficiency; Succinyl-CoA acetoacetate transferase deficiency; Succinyl-CoA:3-ketoacid CoA transferase deficiency (ORPHA:832)
Gene: OXCT1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: SUCCINYL-CoA:3-OXOACID-CoA TRANSFERASE DEFICIENCY (OMIM:245050)
Gene: OXCT1
Phenotype: Dehydration (HP:0001944)
Associated disease: SCOT deficiency; OXCT1 deficiency; Succinyl-CoA:3-oxoacid CoA transferase deficiency; Succinyl-CoA acetoacetate transferase deficiency; Succinyl-CoA:3-ketoacid CoA transferase deficiency (ORPHA:832)
Gene: OXCT1
Phenotype: Ketoacidosis (HP:0001993)
Associated disease: SCOT deficiency; OXCT1 deficiency; Succinyl-CoA:3-oxoacid CoA transferase deficiency; Succinyl-CoA acetoacetate transferase deficiency; Succinyl-CoA:3-ketoacid CoA transferase deficiency (ORPHA:832)
Gene: OXCT1
Phenotype: Decreased body weight (HP:0004325)
Associated disease: SCOT deficiency; OXCT1 deficiency; Succinyl-CoA:3-oxoacid CoA transferase deficiency; Succinyl-CoA acetoacetate transferase deficiency; Succinyl-CoA:3-ketoacid CoA transferase deficiency (ORPHA:832)
Gene: OXCT1
Phenotype: Elevated urinary 3-hydroxybutyric acid (HP:0040155)
Associated disease: SUCCINYL-CoA:3-OXOACID-CoA TRANSFERASE DEFICIENCY (OMIM:245050)
Gene: OXCT1
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: SCOT deficiency; OXCT1 deficiency; Succinyl-CoA:3-oxoacid CoA transferase deficiency; Succinyl-CoA acetoacetate transferase deficiency; Succinyl-CoA:3-ketoacid CoA transferase deficiency (ORPHA:832)
Gene: OXCT1
Phenotype: Ketonuria (HP:0002919)
Associated disease: SUCCINYL-CoA:3-OXOACID-CoA TRANSFERASE DEFICIENCY (OMIM:245050)
Gene: OXCT1
Phenotype: Ketonuria (HP:0002919)
Associated disease: SCOT deficiency; OXCT1 deficiency; Succinyl-CoA:3-oxoacid CoA transferase deficiency; Succinyl-CoA acetoacetate transferase deficiency; Succinyl-CoA:3-ketoacid CoA transferase deficiency (ORPHA:832)
Gene: OXCT1
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: SCOT deficiency; OXCT1 deficiency; Succinyl-CoA:3-oxoacid CoA transferase deficiency; Succinyl-CoA acetoacetate transferase deficiency; Succinyl-CoA:3-ketoacid CoA transferase deficiency (ORPHA:832)
Gene: P2RY11
Phenotype: Abnormal rapid eye movement sleep (HP:0002494)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: P2RY11
Phenotype: NREM parasomnia (HP:0025235)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: P2RY11
Phenotype: Sleep paralysis (HP:0025233)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: P2RY11
Phenotype: Syncope (HP:0001279)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: P2RY11
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: P2RY11
Phenotype: Hypnagogic hallucination (HP:0002519)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: P2RY11
Phenotype: Cataplexy (HP:0002524)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: P2RY11
Phenotype: Slurred speech (HP:0001350)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: P2RY11
Phenotype: Nocturia (HP:0000017)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: P2RY11
Phenotype: Abnormal pupillary function (HP:0007686)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: P2RY11
Phenotype: Constipation (HP:0002019)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: P2RY11
Phenotype: Male sexual dysfunction (HP:0040307)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: P2RY11
Phenotype: Migraine (HP:0002076)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: P2RY11
Phenotype: Sleep apnea (HP:0010535)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: P2RY11
Phenotype: Transient global amnesia (HP:0010534)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: P2RY11
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: P2RY11
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: P2RY11
Phenotype: Drooling (HP:0002307)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: P2RY11
Phenotype: Hypnopompic hallucination (HP:0006896)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: P2RY11
Phenotype: Hallucinations (HP:0000738)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: P2RY11
Phenotype: Anxiety (HP:0000739)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: P2RY11
Phenotype: Depression (HP:0000716)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: P2RY11
Phenotype: Restlessness (HP:0000711)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: P2RY11
Phenotype: Psychosis (HP:0000709)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: P2RY11
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: P2RY11
Phenotype: Hypertension (HP:0000822)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: P2RY11
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: P2RY11
Phenotype: Female sexual dysfunction (HP:0030014)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: P2RY11
Phenotype: Obesity (HP:0001513)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: P2RY11
Phenotype: Restless legs (HP:0012452)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: P4HA1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: P4HA1
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: P4HA1
Phenotype: Microtia (HP:0008551)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: P4HA1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P4HA1
Phenotype: Hypotonia (HP:0001252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: P4HA1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: P4HA1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: P4HA1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)