TaoMedAI/RareMedData huggingface dataset:
Gene: NCF4
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF4
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3 (OMIM:613960)
Gene: NCF4
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF4
Phenotype: Mediastinal lymphadenopathy (HP:0100721)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF4
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF4
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF4
Phenotype: Fever (HP:0001945)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF4
Phenotype: Macule (HP:0012733)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF4
Phenotype: Childhood onset (HP:0011463)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3 (OMIM:613960)
Gene: NCF4
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF4
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF4
Phenotype: Sinusitis (HP:0000246)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF4
Phenotype: Gingivitis (HP:0000230)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF4
Phenotype: Chronic pulmonary obstruction (HP:0006510)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF4
Phenotype: Otitis media (HP:0000388)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF4
Phenotype: Anoperineal fistula (HP:0005218)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3 (OMIM:613960)
Gene: NCF4
Phenotype: Perioral eczema (HP:0011127)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3 (OMIM:613960)
Gene: NCF4
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3 (OMIM:613960)
Gene: NCF4
Phenotype: Recurrent aphthous stomatitis (HP:0011107)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3 (OMIM:613960)
Gene: NCF4
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NCF4
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3 (OMIM:613960)
Gene: NCF4
Phenotype: Abnormality of neutrophils (HP:0001874)
Associated disease: Chronic septic granulomatosis; Chronic granulomatous disease; CGD (ORPHA:379)
Gene: NDN
Phenotype: Abnormal temper tantrums (HP:0025160)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Abnormal temper tantrums (HP:0025160)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
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: NDN
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: NDN
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Seizure (HP:0001250)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Seizure (HP:0001250)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Seizure (HP:0001250)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Hypotonia (HP:0001252)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Hypotonia (HP:0001252)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Hypotonia (HP:0001252)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Gastroparesis (HP:0002578)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Gastroparesis (HP:0002578)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Gastroparesis (HP:0002578)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Polyphagia (HP:0002591)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Polyphagia (HP:0002591)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Polyphagia (HP:0002591)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Polyphagia (HP:0002591)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: NDN
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: NDN
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: NDN
Phenotype: Obsessive-compulsive trait (HP:0008770)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Obsessive-compulsive trait (HP:0008770)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
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: NDN
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
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: NDN
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: NDN
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Small scrotum (HP:0000046)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Small scrotum (HP:0000046)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Small scrotum (HP:0000046)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
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: NDN
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: NDN
Phenotype: Postterm pregnancy (HP:0031169)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Postterm pregnancy (HP:0031169)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Postterm pregnancy (HP:0031169)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
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: NDN
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Scoliosis (HP:0002650)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Scoliosis (HP:0002650)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Scoliosis (HP:0002650)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: NDN
Phenotype: Decreased circulating inhibin B concentration (HP:0031100)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Decreased circulating inhibin B concentration (HP:0031100)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
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)
Gene: NDN
Phenotype: Skin-picking (HP:0012166)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Skin-picking (HP:0012166)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Skin-picking (HP:0012166)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Parietal cortical atrophy (HP:0012104)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Parietal cortical atrophy (HP:0012104)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
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: NDN
Phenotype: Occipital cortical atrophy (HP:0012105)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Occipital cortical atrophy (HP:0012105)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
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: NDN
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: NDN
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Central adrenal insufficiency (HP:0011734)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Central adrenal insufficiency (HP:0011734)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
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: NDN
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
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: NDN
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: NDN
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Bulimia (HP:0100739)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Bulimia (HP:0100739)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Bulimia (HP:0100739)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
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: NDN
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
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: NDN
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: NDN
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: NDN
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
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: NDN
Phenotype: Small hand (HP:0200055)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Small hand (HP:0200055)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Small hand (HP:0200055)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: NDN
Phenotype: Small hand (HP:0200055)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Pedal edema (HP:0010741)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: NDN
Phenotype: Pedal edema (HP:0010741)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Pedal edema (HP:0010741)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Narrow palm (HP:0004283)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: NDN
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: NDN
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: NDN
Phenotype: Intellectual disability, borderline (HP:0006889)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Intellectual disability, borderline (HP:0006889)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
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: NDN
Phenotype: Perisylvian polymicrogyria (HP:0012650)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: NDN
Phenotype: Perisylvian polymicrogyria (HP:0012650)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: NDN
Phenotype: Perisylvian polymicrogyria (HP:0012650)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)