TaoMedAI/RareMedData huggingface dataset:
Gene: SNRPN
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
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: SNRPN
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
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: SNRPN
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: SNRPN
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
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: SNRPN
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: SNRPN
Phenotype: EEG abnormality (HP:0002353)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: EEG abnormality (HP:0002353)
Associated disease: AUTISM (OMIM:209850)
Gene: SNRPN
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: SNRPN
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
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: SNRPN
Phenotype: Protruding tongue (HP:0010808)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Underdeveloped nasolabial fold (HP:0010801)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Small hand (HP:0200055)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Small hand (HP:0200055)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Small hand (HP:0200055)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: SNRPN
Phenotype: Small hand (HP:0200055)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Small hand (HP:0200055)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Pedal edema (HP:0010741)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Pedal edema (HP:0010741)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Pedal edema (HP:0010741)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Clumsiness (HP:0002312)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Drooling (HP:0002307)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Drooling (HP:0002307)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: SNRPN
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Alveolar ridge overgrowth (HP:0009085)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Narrow palm (HP:0004283)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: SNRPN
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: SNRPN
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: SNRPN
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: SNRPN
Phenotype: Intellectual disability, borderline (HP:0006889)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Intellectual disability, borderline (HP:0006889)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
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: SNRPN
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Nystagmus (HP:0000639)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Blue irides (HP:0000635)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Perisylvian polymicrogyria (HP:0012650)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Perisylvian polymicrogyria (HP:0012650)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Perisylvian polymicrogyria (HP:0012650)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Carious teeth (HP:0000670)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: SNRPN
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: SNRPN
Phenotype: Short stature (HP:0004322)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Short stature (HP:0004322)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Short stature (HP:0004322)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: SNRPN
Phenotype: Short stature (HP:0004322)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Short stature (HP:0004322)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Sleep-wake cycle disturbance (HP:0006979)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Sleep-wake cycle disturbance (HP:0006979)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: SNRPN
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: SNRPN
Phenotype: Abnormal nonverbal communicative behavior (HP:0000758)
Associated disease: AUTISM (OMIM:209850)
Gene: SNRPN
Phenotype: Hyperactivity (HP:0000752)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: SNRPN
Phenotype: Anxiety (HP:0000739)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: AUTISM (OMIM:209850)
Gene: SNRPN
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Short attention span (HP:0000736)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: SNRPN
Phenotype: Inflexible adherence to routines (HP:0000732)
Associated disease: AUTISM (OMIM:209850)
Gene: SNRPN
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: AUTISM (OMIM:209850)
Gene: SNRPN
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Paroxysmal bursts of laughter (HP:0000749)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Inappropriate laughter (HP:0000748)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: SNRPN
Phenotype: Widened subarachnoid space (HP:0012704)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Autism (HP:0000717)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Autism (HP:0000717)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Autism (HP:0000717)
Associated disease: AUTISM (OMIM:209850)
Gene: SNRPN
Phenotype: Autism (HP:0000717)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Hyperorality (HP:0000710)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: SNRPN
Phenotype: Autistic behavior (HP:0000729)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Impaired ability to form peer relationships (HP:0000728)
Associated disease: AUTISM (OMIM:209850)
Gene: SNRPN
Phenotype: Restrictive behavior (HP:0000723)
Associated disease: AUTISM (OMIM:209850)
Gene: SNRPN
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Lack of spontaneous play (HP:0000721)
Associated disease: AUTISM (OMIM:209850)
Gene: SNRPN
Phenotype: Psychosis (HP:0000709)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Psychosis (HP:0000709)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Psychosis (HP:0000709)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Atypical behavior (HP:0000708)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: SNRPN
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: SNRPN
Phenotype: Nasogastric tube feeding in infancy (HP:0011470)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Childhood onset (HP:0011463)
Associated disease: AUTISM (OMIM:209850)
Gene: SNRPN
Phenotype: Stellate iris (HP:0012775)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Infertility (HP:0000789)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Infertility (HP:0000789)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Infertility (HP:0000789)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Short nose (HP:0003196)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Cessation of head growth (HP:0004485)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: SNRPN
Phenotype: Increased serum serotonin (HP:0003144)
Associated disease: AUTISM (OMIM:209850)
Gene: SNRPN
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Precocious puberty (HP:0000826)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
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: SNRPN
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: SNRPN
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
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: SNRPN
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Delayed puberty (HP:0000823)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Clinodactyly of the 4th finger (HP:0040025)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Happy demeanor (HP:0040082)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Happy demeanor (HP:0040082)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Happy demeanor (HP:0040082)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: SNRPN
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: SNRPN
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Osteoporosis (HP:0000939)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Osteopenia (HP:0000938)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Osteopenia (HP:0000938)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Osteopenia (HP:0000938)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Retrognathia (HP:0000278)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: SNRPN
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: SNRPN
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Microcephaly (HP:0000252)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Brachycephaly (HP:0000248)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: High palate (HP:0000218)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)