TaoMedAI/RareMedData huggingface dataset:
Gene: PTCH1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Microdeletion 9q22.3; Monosomy 9q22.3 syndrome (ORPHA:77301)
Gene: PTEN
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: PTEN
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Dysplastic gangliocytoma of the cerebellum; Lhermitte-Duclos disease; LDD (ORPHA:65285)
Gene: PTEN
Phenotype: Limbal dermoid (HP:0001140)
Associated disease: Proteus-like syndrome (ORPHA:2969)
Gene: PTEN
Phenotype: Heterochromia iridis (HP:0001100)
Associated disease: Proteus-like syndrome (ORPHA:2969)
Gene: PTEN
Phenotype: Nevus (HP:0003764)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Angioid streaks of the fundus (HP:0001102)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Lymphoid nodular hyperplasia (HP:0032203)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: PTEN
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Motor delay (HP:0001270)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: PTEN
Phenotype: Motor delay (HP:0001270)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Intestinal bleeding (HP:0002584)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Seizure (HP:0001250)
Associated disease: Dysplastic gangliocytoma of the cerebellum; Lhermitte-Duclos disease; LDD (ORPHA:65285)
Gene: PTEN
Phenotype: Seizure (HP:0001250)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: PTEN
Phenotype: Seizure (HP:0001250)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Seizure (HP:0001250)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Seizure (HP:0001250)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Hypotonia (HP:0001252)
Associated disease: MACROCEPHALY/AUTISM SYNDROME (OMIM:605309)
Gene: PTEN
Phenotype: Hypotonia (HP:0001252)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: PTEN
Phenotype: Hypotonia (HP:0001252)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Ataxia (HP:0001251)
Associated disease: Dysplastic gangliocytoma of the cerebellum; Lhermitte-Duclos disease; LDD (ORPHA:65285)
Gene: PTEN
Phenotype: Ataxia (HP:0001251)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MACROCEPHALY/AUTISM SYNDROME (OMIM:605309)
Gene: PTEN
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: PTEN
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Intellectual disability (HP:0001249)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Proteus-like syndrome (ORPHA:2969)
Gene: PTEN
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Abnormality of the vasculature (HP:0002597)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MACROCEPHALY/AUTISM SYNDROME (OMIM:605309)
Gene: PTEN
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Intussusception (HP:0002576)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: PTEN
Phenotype: Intussusception (HP:0002576)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Hematochezia (HP:0002573)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: PTEN
Phenotype: Hematochezia (HP:0002573)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Proteus-like syndrome (ORPHA:2969)
Gene: PTEN
Phenotype: Excessive wrinkled skin (HP:0007392)
Associated disease: SOLAMEN syndrome; Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome (ORPHA:137608)
Gene: PTEN
Phenotype: Enlarged polycystic ovaries (HP:0008675)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Clubbing (HP:0001217)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: PTEN
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Dysplastic gangliocytoma of the cerebellum; Lhermitte-Duclos disease; LDD (ORPHA:65285)
Gene: PTEN
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO (OMIM:607174)
Gene: PTEN
Phenotype: Oligodendroglioma (HP:0033681)
Associated disease: GLIOMA SUSCEPTIBILITY 2 (OMIM:613028)
Gene: PTEN
Phenotype: Tall stature (HP:0000098)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Bone cyst (HP:0012062)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: PTEN
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Lipoma (HP:0012032)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Lipoma (HP:0012032)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Abnormal penis morphology (HP:0000036)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MACROCEPHALY/AUTISM SYNDROME (OMIM:605309)
Gene: PTEN
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Ovarian carcinoma (HP:0025318)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Hydrocele testis (HP:0000034)
Associated disease: MACROCEPHALY/AUTISM SYNDROME (OMIM:605309)
Gene: PTEN
Phenotype: Hydrocele testis (HP:0000034)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Enlarged cerebellum (HP:0012081)
Associated disease: Dysplastic gangliocytoma of the cerebellum; Lhermitte-Duclos disease; LDD (ORPHA:65285)
Gene: PTEN
Phenotype: Neoplasm (HP:0002664)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Neoplasm (HP:0002664)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: PTEN
Phenotype: Communicating hydrocephalus (HP:0001334)
Associated disease: Proteus-like syndrome (ORPHA:2969)
Gene: PTEN
Phenotype: Lymphoma (HP:0002665)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: PTEN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PROSTATE CANCER (OMIM:176807)
Gene: PTEN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO (OMIM:607174)
Gene: PTEN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GLIOMA SUSCEPTIBILITY 2 (OMIM:613028)
Gene: PTEN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MACROCEPHALY/AUTISM SYNDROME (OMIM:605309)
Gene: PTEN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Proteus-like syndrome (ORPHA:2969)
Gene: PTEN
Phenotype: Scoliosis (HP:0002650)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Scoliosis (HP:0002650)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Scoliosis (HP:0002650)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Narrow palate (HP:0000189)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Narrow mouth (HP:0000160)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Macroglossia (HP:0000158)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Macroglossia (HP:0000158)
Associated disease: Dysplastic gangliocytoma of the cerebellum; Lhermitte-Duclos disease; LDD (ORPHA:65285)
Gene: PTEN
Phenotype: Prostate cancer (HP:0012125)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: PTEN
Phenotype: Prostate cancer (HP:0012125)
Associated disease: PROSTATE CANCER (OMIM:176807)
Gene: PTEN
Phenotype: Ovarian cyst (HP:0000138)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: SOLAMEN syndrome; Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome (ORPHA:137608)
Gene: PTEN
Phenotype: Endometrial carcinoma (HP:0012114)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: Proteus-like syndrome (ORPHA:2969)
Gene: PTEN
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Dysplastic gangliocytoma of the cerebellum (HP:0500009)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Abnormality of the uterus (HP:0000130)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: SOLAMEN syndrome; Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome (ORPHA:137608)
Gene: PTEN
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: PROSTATE CANCER (OMIM:176807)
Gene: PTEN
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Recurrent infections (HP:0002719)
Associated disease: MACROCEPHALY/AUTISM SYNDROME (OMIM:605309)
Gene: PTEN
Phenotype: Recurrent infections (HP:0002719)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Dysplastic gangliocytoma of the cerebellum; Lhermitte-Duclos disease; LDD (ORPHA:65285)
Gene: PTEN
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: PTEN
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Abdominal pain (HP:0002027)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: PTEN
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Large forehead (HP:0002003)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Diarrhea (HP:0002014)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: PTEN
Phenotype: Diarrhea (HP:0002014)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Frontal bossing (HP:0002007)
Associated disease: MACROCEPHALY/AUTISM SYNDROME (OMIM:605309)
Gene: PTEN
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: PTEN
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Midface retrusion (HP:0011800)
Associated disease: MACROCEPHALY/AUTISM SYNDROME (OMIM:605309)
Gene: PTEN
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: PTEN
Phenotype: Intention tremor (HP:0002080)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Upper limb asymmetry (HP:0100560)
Associated disease: SOLAMEN syndrome; Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome (ORPHA:137608)
Gene: PTEN
Phenotype: Lower limb asymmetry (HP:0100559)
Associated disease: Proteus-like syndrome (ORPHA:2969)
Gene: PTEN
Phenotype: Lower limb asymmetry (HP:0100559)
Associated disease: SOLAMEN syndrome; Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome (ORPHA:137608)
Gene: PTEN
Phenotype: Mucosal telangiectasiae (HP:0100579)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Dysplastic gangliocytoma of the cerebellum; Lhermitte-Duclos disease; LDD (ORPHA:65285)
Gene: PTEN
Phenotype: Skin tags (HP:0010609)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Hamartoma (HP:0010566)
Associated disease: SOLAMEN syndrome; Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome (ORPHA:137608)
Gene: PTEN
Phenotype: Thymus hyperplasia (HP:0010516)
Associated disease: Proteus-like syndrome (ORPHA:2969)
Gene: PTEN
Phenotype: Infantile onset (HP:0003593)
Associated disease: MACROCEPHALY/AUTISM SYNDROME (OMIM:605309)
Gene: PTEN
Phenotype: Protein-losing enteropathy (HP:0002243)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MACROCEPHALY/AUTISM SYNDROME (OMIM:605309)
Gene: PTEN
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Colonic diverticula (HP:0002253)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Abnormal large intestine morphology (HP:0002250)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Adult onset (HP:0003581)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Adult onset (HP:0003581)
Associated disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO (OMIM:607174)
Gene: PTEN
Phenotype: Melena (HP:0002249)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Coarse hair (HP:0002208)
Associated disease: MACROCEPHALY/AUTISM SYNDROME (OMIM:605309)
Gene: PTEN
Phenotype: Lymphangioma (HP:0100764)
Associated disease: SOLAMEN syndrome; Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome (ORPHA:137608)
Gene: PTEN
Phenotype: Conjunctival hamartoma (HP:0100780)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Exostoses (HP:0100777)
Associated disease: Proteus-like syndrome (ORPHA:2969)
Gene: PTEN
Phenotype: Hyperostosis (HP:0100774)
Associated disease: Proteus-like syndrome (ORPHA:2969)
Gene: PTEN
Phenotype: Adenoma sebaceum (HP:0009720)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Shagreen patch (HP:0009721)
Associated disease: Proteus-like syndrome (ORPHA:2969)
Gene: PTEN
Phenotype: Bronchogenic cyst (HP:0100730)
Associated disease: Proteus-like syndrome (ORPHA:2969)
Gene: PTEN
Phenotype: Visceral angiomatosis (HP:0100761)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Visceral angiomatosis (HP:0100761)
Associated disease: SOLAMEN syndrome; Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome (ORPHA:137608)
Gene: PTEN
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: PTEN
Phenotype: Fibroadenoma of the breast (HP:0010619)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Fibroadenoma of the breast (HP:0010619)
Associated disease: Dysplastic gangliocytoma of the cerebellum; Lhermitte-Duclos disease; LDD (ORPHA:65285)
Gene: PTEN
Phenotype: Fibroma (HP:0010614)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Numerous nevi (HP:0001054)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: PTEN
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Cavernous hemangioma (HP:0001048)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Subcutaneous lipoma (HP:0001031)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Subcutaneous lipoma (HP:0001031)
Associated disease: Proteus-like syndrome (ORPHA:2969)
Gene: PTEN
Phenotype: Subcutaneous lipoma (HP:0001031)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Hemangioma (HP:0001028)
Associated disease: Proteus-like syndrome (ORPHA:2969)
Gene: PTEN
Phenotype: Hemangioma (HP:0001028)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Multiple lipomas (HP:0001012)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: PTEN
Phenotype: Telangiectasia (HP:0001009)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Lymphedema (HP:0001004)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Headache (HP:0002315)
Associated disease: Dysplastic gangliocytoma of the cerebellum; Lhermitte-Duclos disease; LDD (ORPHA:65285)
Gene: PTEN
Phenotype: Acrokeratosis (HP:0200016)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Acrokeratosis (HP:0200016)
Associated disease: Dysplastic gangliocytoma of the cerebellum; Lhermitte-Duclos disease; LDD (ORPHA:65285)
Gene: PTEN
Phenotype: Thyroiditis (HP:0100646)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Hemimegalencephaly (HP:0007206)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Papule (HP:0200034)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Papule (HP:0200034)
Associated disease: Dysplastic gangliocytoma of the cerebellum; Lhermitte-Duclos disease; LDD (ORPHA:65285)
Gene: PTEN
Phenotype: Papule (HP:0200034)
Associated disease: SOLAMEN syndrome; Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome (ORPHA:137608)
Gene: PTEN
Phenotype: Epidermal nevus (HP:0010816)
Associated disease: Proteus-like syndrome (ORPHA:2969)
Gene: PTEN
Phenotype: Intestinal polyposis (HP:0200008)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: PTEN
Phenotype: Intestinal polyposis (HP:0200008)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Open bite (HP:0010807)
Associated disease: Proteus-like syndrome (ORPHA:2969)
Gene: PTEN
Phenotype: Colorectal polyposis (HP:0200063)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)