TaoMedAI/RareMedData huggingface dataset:
Gene: GPR143
Phenotype: Infantile onset (HP:0003593)
Associated disease: NYSTAGMUS 6, CONGENITAL, X-LINKED (OMIM:300814)
Gene: GPR143
Phenotype: Giant melanosomes in melanocytes (HP:0005592)
Associated disease: X-linked recessive ocular albinism; Ocular albinism type 1; XLOA; Ocular albinism, Nettleship-Falls type; OA1 (ORPHA:54)
Gene: GPR143
Phenotype: Giant melanosomes in melanocytes (HP:0005592)
Associated disease: ALBINISM, OCULAR, TYPE I (OMIM:300500)
Gene: GPR143
Phenotype: Nystagmus (HP:0000639)
Associated disease: ALBINISM, OCULAR, TYPE I (OMIM:300500)
Gene: GPR143
Phenotype: Nystagmus (HP:0000639)
Associated disease: X-linked recessive ocular albinism; Ocular albinism type 1; XLOA; Ocular albinism, Nettleship-Falls type; OA1 (ORPHA:54)
Gene: GPR143
Phenotype: Amblyopia (HP:0000646)
Associated disease: NYSTAGMUS 6, CONGENITAL, X-LINKED (OMIM:300814)
Gene: GPR143
Phenotype: Photophobia (HP:0000613)
Associated disease: X-linked recessive ocular albinism; Ocular albinism type 1; XLOA; Ocular albinism, Nettleship-Falls type; OA1 (ORPHA:54)
Gene: GPR143
Phenotype: Photophobia (HP:0000613)
Associated disease: ALBINISM, OCULAR, TYPE I (OMIM:300500)
Gene: GPR143
Phenotype: Abnormal pupil morphology (HP:0000615)
Associated disease: X-linked recessive ocular albinism; Ocular albinism type 1; XLOA; Ocular albinism, Nettleship-Falls type; OA1 (ORPHA:54)
Gene: GPR143
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: NYSTAGMUS 6, CONGENITAL, X-LINKED (OMIM:300814)
Gene: GPR143
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: X-linked recessive ocular albinism; Ocular albinism type 1; XLOA; Ocular albinism, Nettleship-Falls type; OA1 (ORPHA:54)
Gene: GPR143
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: X-linked recessive ocular albinism; Ocular albinism type 1; XLOA; Ocular albinism, Nettleship-Falls type; OA1 (ORPHA:54)
Gene: GPR143
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: ALBINISM, OCULAR, TYPE I (OMIM:300500)
Gene: GPR143
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: X-linked recessive ocular albinism; Ocular albinism type 1; XLOA; Ocular albinism, Nettleship-Falls type; OA1 (ORPHA:54)
Gene: GPR143
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: NYSTAGMUS 6, CONGENITAL, X-LINKED (OMIM:300814)
Gene: GPR143
Phenotype: Hypopigmentation of the fundus (HP:0007894)
Associated disease: NYSTAGMUS 6, CONGENITAL, X-LINKED (OMIM:300814)
Gene: GPR143
Phenotype: Astigmatism (HP:0000483)
Associated disease: NYSTAGMUS 6, CONGENITAL, X-LINKED (OMIM:300814)
Gene: GPR143
Phenotype: Astigmatism (HP:0000483)
Associated disease: X-linked recessive ocular albinism; Ocular albinism type 1; XLOA; Ocular albinism, Nettleship-Falls type; OA1 (ORPHA:54)
Gene: GPR143
Phenotype: Strabismus (HP:0000486)
Associated disease: X-linked recessive ocular albinism; Ocular albinism type 1; XLOA; Ocular albinism, Nettleship-Falls type; OA1 (ORPHA:54)
Gene: GPR143
Phenotype: Visual impairment (HP:0000505)
Associated disease: X-linked recessive ocular albinism; Ocular albinism type 1; XLOA; Ocular albinism, Nettleship-Falls type; OA1 (ORPHA:54)
Gene: GPR143
Phenotype: Myopia (HP:0000545)
Associated disease: X-linked recessive ocular albinism; Ocular albinism type 1; XLOA; Ocular albinism, Nettleship-Falls type; OA1 (ORPHA:54)
Gene: OAS1
Phenotype: Death in childhood (HP:0003819)
Associated disease: PULMONARY ALVEOLAR PROTEINOSIS WITH HYPOGAMMAGLOBULINEMIA (OMIM:618042)
Gene: OAS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PULMONARY ALVEOLAR PROTEINOSIS WITH HYPOGAMMAGLOBULINEMIA (OMIM:618042)
Gene: OAS1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: PULMONARY ALVEOLAR PROTEINOSIS WITH HYPOGAMMAGLOBULINEMIA (OMIM:618042)
Gene: OAS1
Phenotype: Infantile onset (HP:0003593)
Associated disease: PULMONARY ALVEOLAR PROTEINOSIS WITH HYPOGAMMAGLOBULINEMIA (OMIM:618042)
Gene: OAS1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: PULMONARY ALVEOLAR PROTEINOSIS WITH HYPOGAMMAGLOBULINEMIA (OMIM:618042)
Gene: OAS1
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: PULMONARY ALVEOLAR PROTEINOSIS WITH HYPOGAMMAGLOBULINEMIA (OMIM:618042)
Gene: OAS1
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: PULMONARY ALVEOLAR PROTEINOSIS WITH HYPOGAMMAGLOBULINEMIA (OMIM:618042)
Gene: OAS1
Phenotype: Death in adolescence (HP:0011421)
Associated disease: PULMONARY ALVEOLAR PROTEINOSIS WITH HYPOGAMMAGLOBULINEMIA (OMIM:618042)
Gene: OAS1
Phenotype: Death in infancy (HP:0001522)
Associated disease: PULMONARY ALVEOLAR PROTEINOSIS WITH HYPOGAMMAGLOBULINEMIA (OMIM:618042)
Gene: OAS1
Phenotype: Intraalveolar phospholipid accumulation (HP:0006517)
Associated disease: PULMONARY ALVEOLAR PROTEINOSIS WITH HYPOGAMMAGLOBULINEMIA (OMIM:618042)
Gene: OAS1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: PULMONARY ALVEOLAR PROTEINOSIS WITH HYPOGAMMAGLOBULINEMIA (OMIM:618042)
Gene: OAT
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OAT
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: Hyperornithinemia-gyrate atrophy of choroid and retina syndrome; Ornithine aminotransferase deficiency; Gyrate atrophy of choroid and retina; HOGA; Hyperornithinemia (ORPHA:414)
Gene: OAT
Phenotype: Abnormal macular morphology (HP:0001103)
Associated disease: Hyperornithinemia-gyrate atrophy of choroid and retina syndrome; Ornithine aminotransferase deficiency; Gyrate atrophy of choroid and retina; HOGA; Hyperornithinemia (ORPHA:414)
Gene: OAT
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: GYRATE ATROPHY OF CHOROID AND RETINA (OMIM:258870)
Gene: OAT
Phenotype: Seizure (HP:0001250)
Associated disease: Hyperornithinemia-gyrate atrophy of choroid and retina syndrome; Ornithine aminotransferase deficiency; Gyrate atrophy of choroid and retina; HOGA; Hyperornithinemia (ORPHA:414)
Gene: OAT
Phenotype: Hyperornithinemia (HP:0012026)
Associated disease: GYRATE ATROPHY OF CHOROID AND RETINA (OMIM:258870)
Gene: OAT
Phenotype: Hyperornithinemia (HP:0012026)
Associated disease: Hyperornithinemia-gyrate atrophy of choroid and retina syndrome; Ornithine aminotransferase deficiency; Gyrate atrophy of choroid and retina; HOGA; Hyperornithinemia (ORPHA:414)
Gene: OAT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OAT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GYRATE ATROPHY OF CHOROID AND RETINA (OMIM:258870)
Gene: OAT
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OAT
Phenotype: Foveoschisis (HP:0012152)
Associated disease: GYRATE ATROPHY OF CHOROID AND RETINA (OMIM:258870)
Gene: OAT
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OAT
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Hyperornithinemia-gyrate atrophy of choroid and retina syndrome; Ornithine aminotransferase deficiency; Gyrate atrophy of choroid and retina; HOGA; Hyperornithinemia (ORPHA:414)
Gene: OAT
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OAT
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: Hyperornithinemia-gyrate atrophy of choroid and retina syndrome; Ornithine aminotransferase deficiency; Gyrate atrophy of choroid and retina; HOGA; Hyperornithinemia (ORPHA:414)
Gene: OAT
Phenotype: EMG abnormality (HP:0003457)
Associated disease: GYRATE ATROPHY OF CHOROID AND RETINA (OMIM:258870)
Gene: OAT
Phenotype: Chorioretinal degeneration (HP:0200065)
Associated disease: Hyperornithinemia-gyrate atrophy of choroid and retina syndrome; Ornithine aminotransferase deficiency; Gyrate atrophy of choroid and retina; HOGA; Hyperornithinemia (ORPHA:414)
Gene: OAT
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OAT
Phenotype: Blindness (HP:0000618)
Associated disease: Hyperornithinemia-gyrate atrophy of choroid and retina syndrome; Ornithine aminotransferase deficiency; Gyrate atrophy of choroid and retina; HOGA; Hyperornithinemia (ORPHA:414)
Gene: OAT
Phenotype: Blindness (HP:0000618)
Associated disease: GYRATE ATROPHY OF CHOROID AND RETINA (OMIM:258870)
Gene: OAT
Phenotype: Macular thickening (HP:0030498)
Associated disease: GYRATE ATROPHY OF CHOROID AND RETINA (OMIM:258870)
Gene: OAT
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OAT
Phenotype: Nyctalopia (HP:0000662)
Associated disease: GYRATE ATROPHY OF CHOROID AND RETINA (OMIM:258870)
Gene: OAT
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OAT
Phenotype: Childhood onset (HP:0011463)
Associated disease: GYRATE ATROPHY OF CHOROID AND RETINA (OMIM:258870)
Gene: OAT
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OAT
Phenotype: Chorioretinal hyperpigmentation (HP:0040031)
Associated disease: Hyperornithinemia-gyrate atrophy of choroid and retina syndrome; Ornithine aminotransferase deficiency; Gyrate atrophy of choroid and retina; HOGA; Hyperornithinemia (ORPHA:414)
Gene: OAT
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Hyperornithinemia-gyrate atrophy of choroid and retina syndrome; Ornithine aminotransferase deficiency; Gyrate atrophy of choroid and retina; HOGA; Hyperornithinemia (ORPHA:414)
Gene: OAT
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: GYRATE ATROPHY OF CHOROID AND RETINA (OMIM:258870)
Gene: OAT
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OAT
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OAT
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Hyperornithinemia-gyrate atrophy of choroid and retina syndrome; Ornithine aminotransferase deficiency; Gyrate atrophy of choroid and retina; HOGA; Hyperornithinemia (ORPHA:414)
Gene: OAT
Phenotype: Cataract (HP:0000518)
Associated disease: Hyperornithinemia-gyrate atrophy of choroid and retina syndrome; Ornithine aminotransferase deficiency; Gyrate atrophy of choroid and retina; HOGA; Hyperornithinemia (ORPHA:414)
Gene: OAT
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OAT
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Hyperornithinemia-gyrate atrophy of choroid and retina syndrome; Ornithine aminotransferase deficiency; Gyrate atrophy of choroid and retina; HOGA; Hyperornithinemia (ORPHA:414)
Gene: OAT
Phenotype: Subcapsular cataract (HP:0000523)
Associated disease: Hyperornithinemia-gyrate atrophy of choroid and retina syndrome; Ornithine aminotransferase deficiency; Gyrate atrophy of choroid and retina; HOGA; Hyperornithinemia (ORPHA:414)
Gene: OAT
Phenotype: Visual impairment (HP:0000505)
Associated disease: GYRATE ATROPHY OF CHOROID AND RETINA (OMIM:258870)
Gene: OAT
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OAT
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: GYRATE ATROPHY OF CHOROID AND RETINA (OMIM:258870)
Gene: OAT
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: Hyperornithinemia-gyrate atrophy of choroid and retina syndrome; Ornithine aminotransferase deficiency; Gyrate atrophy of choroid and retina; HOGA; Hyperornithinemia (ORPHA:414)
Gene: OAT
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OAT
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OAT
Phenotype: Myopia (HP:0000545)
Associated disease: Hyperornithinemia-gyrate atrophy of choroid and retina syndrome; Ornithine aminotransferase deficiency; Gyrate atrophy of choroid and retina; HOGA; Hyperornithinemia (ORPHA:414)
Gene: OAT
Phenotype: Myopia (HP:0000545)
Associated disease: GYRATE ATROPHY OF CHOROID AND RETINA (OMIM:258870)
Gene: OCA2
Phenotype: Poor speech (HP:0002465)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Abnormal temper tantrums (HP:0025160)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Abnormal temper tantrums (HP:0025160)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Abnormal temper tantrums (HP:0025160)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Heterochromia iridis (HP:0001100)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: OCA2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Seizure (HP:0001250)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Seizure (HP:0001250)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Seizure (HP:0001250)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Seizure (HP:0001250)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Hypotonia (HP:0001252)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Ataxia (HP:0001251)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Gastroparesis (HP:0002578)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Gastroparesis (HP:0002578)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Gastroparesis (HP:0002578)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Polyphagia (HP:0002591)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Polyphagia (HP:0002591)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Polyphagia (HP:0002591)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Obsessive-compulsive trait (HP:0008770)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Obsessive-compulsive trait (HP:0008770)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Cutaneous melanoma (HP:0012056)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: OCA2
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Small scrotum (HP:0000046)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Small scrotum (HP:0000046)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Small scrotum (HP:0000046)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Postterm pregnancy (HP:0031169)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Postterm pregnancy (HP:0031169)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Postterm pregnancy (HP:0031169)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Hyperpigmented nevi (HP:0007481)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: OCA2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Absent speech (HP:0001344)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: OCA2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE II (OMIM:203200)
Gene: OCA2
Phenotype: Tremor (HP:0001337)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Myoclonus (HP:0001336)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Scoliosis (HP:0002650)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Decreased circulating inhibin B concentration (HP:0031100)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Decreased circulating inhibin B concentration (HP:0031100)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Decreased circulating inhibin B concentration (HP:0031100)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)