TaoMedAI/RareMedData huggingface dataset:
Gene: OCA2
Phenotype: Freckles in sun-exposed areas (HP:0007603)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE II (OMIM:203200)
Gene: OCA2
Phenotype: Skin-picking (HP:0012166)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Skin-picking (HP:0012166)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Skin-picking (HP:0012166)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Wide mouth (HP:0000154)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Freckling (HP:0001480)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: OCA2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: OCA2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE II (OMIM:203200)
Gene: OCA2
Phenotype: Floppy infant (HP:0008947)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Parietal cortical atrophy (HP:0012104)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Parietal cortical atrophy (HP:0012104)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Parietal cortical atrophy (HP:0012104)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Occipital cortical atrophy (HP:0012105)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Occipital cortical atrophy (HP:0012105)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Occipital cortical atrophy (HP:0012105)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Constipation (HP:0002019)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Poor suck (HP:0002033)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Dysphagia (HP:0002015)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Heat intolerance (HP:0002046)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Central adrenal insufficiency (HP:0011734)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Central adrenal insufficiency (HP:0011734)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Central adrenal insufficiency (HP:0011734)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Broad-based gait (HP:0002136)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Limitation of movement at ankles (HP:0010505)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Tongue thrusting (HP:0100703)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: White eyelashes (HP:0002227)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: OCA2
Phenotype: White eyebrow (HP:0002226)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: OCA2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Abnormal eating behavior (HP:0100738)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Bulimia (HP:0100739)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Bulimia (HP:0100739)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Bulimia (HP:0100739)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Red hair (HP:0002297)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE II (OMIM:203200)
Gene: OCA2
Phenotype: Absent skin pigmentation (HP:0200098)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: OCA2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE II (OMIM:203200)
Gene: OCA2
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: OCA2
Phenotype: Albinism (HP:0001022)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE II (OMIM:203200)
Gene: OCA2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Protruding tongue (HP:0010808)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Small hand (HP:0200055)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Small hand (HP:0200055)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Small hand (HP:0200055)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Pedal edema (HP:0010741)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Pedal edema (HP:0010741)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Pedal edema (HP:0010741)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Drooling (HP:0002307)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE II (OMIM:203200)
Gene: OCA2
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: OCA2
Phenotype: Intellectual disability, borderline (HP:0006889)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Intellectual disability, borderline (HP:0006889)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Intellectual disability, borderline (HP:0006889)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: OCA2
Phenotype: Nystagmus (HP:0000639)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE II (OMIM:203200)
Gene: OCA2
Phenotype: Blue irides (HP:0000635)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE II (OMIM:203200)
Gene: OCA2
Phenotype: Blue irides (HP:0000635)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: OCA2
Phenotype: Photophobia (HP:0000613)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: OCA2
Phenotype: White hair (HP:0011364)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: OCA2
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Perisylvian polymicrogyria (HP:0012650)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Perisylvian polymicrogyria (HP:0012650)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Perisylvian polymicrogyria (HP:0012650)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Short stature (HP:0004322)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Short stature (HP:0004322)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Short stature (HP:0004322)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Recurrent hand flapping (HP:0100023)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Short attention span (HP:0000736)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Inappropriate laughter (HP:0000748)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Autism (HP:0000717)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Autism (HP:0000717)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Autism (HP:0000717)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Psychosis (HP:0000709)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Psychosis (HP:0000709)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Psychosis (HP:0000709)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Infertility (HP:0000789)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Infertility (HP:0000789)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Infertility (HP:0000789)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Cessation of head growth (HP:0004485)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Iris transillumination defect (HP:0012805)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: OCA2
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Precocious puberty (HP:0000826)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: OCA2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: OCA2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: OCA2
Phenotype: Happy demeanor (HP:0040082)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: OCA2
Phenotype: Posterior staphyloma (HP:0030856)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)