TaoMedAI/RareMedData huggingface dataset:
Gene: SLC9A6
Phenotype: Open mouth (HP:0000194)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Gene: SLC9A6
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Constipation (HP:0002019)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Dysphagia (HP:0002015)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Dysphagia (HP:0002015)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Gene: SLC9A6
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Gene: SLC9A6
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Gene: SLC9A6
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Developmental regression (HP:0002376)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Photosensitive tonic-clonic seizure (HP:0007207)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Gene: SLC9A6
Phenotype: Mutism (HP:0002300)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Gene: SLC9A6
Phenotype: Mutism (HP:0002300)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Drooling (HP:0002307)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Gene: SLC9A6
Phenotype: Drooling (HP:0002307)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Gene: SLC9A6
Phenotype: Nystagmus (HP:0000639)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Gene: SLC9A6
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Decreased body weight (HP:0004325)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Gene: SLC9A6
Phenotype: Cachexia (HP:0004326)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Gene: SLC9A6
Phenotype: Conspicuously happy disposition (HP:0100024)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Inappropriate laughter (HP:0000748)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Autism (HP:0000717)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Narrow chest (HP:0000774)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Gene: SLC9A6
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Long nose (HP:0003189)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Gene: SLC9A6
Phenotype: Happy demeanor (HP:0040082)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Gene: SLC9A6
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Gene: SLC9A6
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Narrow face (HP:0000275)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Gene: SLC9A6
Phenotype: Narrow face (HP:0000275)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Long face (HP:0000276)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Gene: SLC9A6
Phenotype: Long face (HP:0000276)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Microcephaly (HP:0000252)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Gene: SLC9A6
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Gene: SLC9A6
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Gene: SLC9A6
Phenotype: Macrotia (HP:0000400)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Gene: SLC9A6
Phenotype: Macrotia (HP:0000400)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Strabismus (HP:0000486)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Gene: SLC9A6
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Gene: SLC9A6
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SLC9A6
Phenotype: Loss of ability to walk in first decade (HP:0006794)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Gene: SLC9A6
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE (OMIM:300243)
Gene: SLC9A6
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Christianson syndrome; X-linked Angelman-like syndrome (ORPHA:85278)
Gene: SEC23B
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Seizure (HP:0001250)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Ataxia (HP:0001251)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Enlarged polycystic ovaries (HP:0008675)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Anemia of inadequate production (HP:0010972)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II (OMIM:224100)
Gene: SEC23B
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Bone cyst (HP:0012062)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Lipoma (HP:0012032)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Abnormal penis morphology (HP:0000036)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Neoplasm (HP:0002664)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II (OMIM:224100)
Gene: SEC23B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COWDEN SYNDROME 7 (OMIM:616858)
Gene: SEC23B
Phenotype: Scoliosis (HP:0002650)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Macroglossia (HP:0000158)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Endometrial carcinoma (HP:0012114)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Abnormality of the uterus (HP:0000130)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Endopolyploidy on chromosome studies of bone marrow (HP:0003352)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II (OMIM:224100)
Gene: SEC23B
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Mucosal telangiectasiae (HP:0100579)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Middle age onset (HP:0003596)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II (OMIM:224100)
Gene: SEC23B
Phenotype: Infantile onset (HP:0003593)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II (OMIM:224100)
Gene: SEC23B
Phenotype: Late onset (HP:0003584)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II (OMIM:224100)
Gene: SEC23B
Phenotype: Conjunctival hamartoma (HP:0100780)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Adenoma sebaceum (HP:0009720)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Fibroma (HP:0010614)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Cavernous hemangioma (HP:0001048)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Hemangioma (HP:0001028)
Associated disease: COWDEN SYNDROME 7 (OMIM:616858)
Gene: SEC23B
Phenotype: Reduced level of N-acetylglucosaminyltransferase II (HP:0003655)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II (OMIM:224100)
Gene: SEC23B
Phenotype: Papule (HP:0200034)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Intestinal polyposis (HP:0200008)
Associated disease: COWDEN SYNDROME 7 (OMIM:616858)
Gene: SEC23B
Phenotype: Colorectal polyposis (HP:0200063)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II (OMIM:224100)
Gene: SEC23B
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II (OMIM:224100)
Gene: SEC23B
Phenotype: Generalized hyperkeratosis (HP:0005595)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II (OMIM:224100)
Gene: SEC23B
Phenotype: Short stature (HP:0004322)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: COWDEN SYNDROME 7 (OMIM:616858)
Gene: SEC23B
Phenotype: Hamartomatous polyposis (HP:0004390)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Neoplasm of the central nervous system (HP:0100006)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Macule (HP:0012733)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Papilloma (HP:0012740)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Papilloma (HP:0012740)
Associated disease: COWDEN SYNDROME 7 (OMIM:616858)
Gene: SEC23B
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Neoplasm of the thyroid gland (HP:0100031)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Autism (HP:0000717)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Childhood onset (HP:0011463)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II (OMIM:224100)
Gene: SEC23B
Phenotype: Young adult onset (HP:0011462)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II (OMIM:224100)
Gene: SEC23B
Phenotype: Hashimoto thyroiditis (HP:0000872)
Associated disease: COWDEN SYNDROME 7 (OMIM:616858)
Gene: SEC23B
Phenotype: Trichilemmoma (HP:0012844)
Associated disease: COWDEN SYNDROME 7 (OMIM:616858)
Gene: SEC23B
Phenotype: Goiter (HP:0000853)
Associated disease: COWDEN SYNDROME 7 (OMIM:616858)
Gene: SEC23B
Phenotype: Goiter (HP:0000853)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Abnormality of the thyroid gland (HP:0000820)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Jaundice (HP:0000952)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II (OMIM:224100)
Gene: SEC23B
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Macrocephaly (HP:0000256)
Associated disease: COWDEN SYNDROME 7 (OMIM:616858)
Gene: SEC23B
Phenotype: Ductal carcinoma in situ (HP:0030075)
Associated disease: COWDEN SYNDROME 7 (OMIM:616858)
Gene: SEC23B
Phenotype: Kyphosis (HP:0002808)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Furrowed tongue (HP:0000221)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: High palate (HP:0000218)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Papillary thyroid carcinoma (HP:0002895)
Associated disease: COWDEN SYNDROME 7 (OMIM:616858)
Gene: SEC23B
Phenotype: Melanoma (HP:0002861)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Meningioma (HP:0002858)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Cellular immunodeficiency (HP:0005374)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Splenomegaly (HP:0001744)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II (OMIM:224100)
Gene: SEC23B
Phenotype: Follicular thyroid carcinoma (HP:0006731)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Cataract (HP:0000518)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23B
Phenotype: Myopia (HP:0000545)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SEC23A
Phenotype: High iliac wing (HP:0008808)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: High iliac wing (HP:0008808)
Associated disease: Craniolenticulosutural dysplasia; Boyadjiev-Jabs syndrome (ORPHA:50814)
Gene: SEC23A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Craniolenticulosutural dysplasia; Boyadjiev-Jabs syndrome (ORPHA:50814)
Gene: SEC23A
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Craniolenticulosutural dysplasia; Boyadjiev-Jabs syndrome (ORPHA:50814)
Gene: SEC23A
Phenotype: Scoliosis (HP:0002650)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: Scoliosis (HP:0002650)
Associated disease: Craniolenticulosutural dysplasia; Boyadjiev-Jabs syndrome (ORPHA:50814)
Gene: SEC23A
Phenotype: Bifid uvula (HP:0000193)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: Cleft palate (HP:0000175)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: Delayed closure of the anterior fontanelle (HP:0001476)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: Wide mouth (HP:0000154)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: Wide mouth (HP:0000154)
Associated disease: Craniolenticulosutural dysplasia; Boyadjiev-Jabs syndrome (ORPHA:50814)
Gene: SEC23A
Phenotype: Punctate cataract (HP:0007648)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Craniolenticulosutural dysplasia; Boyadjiev-Jabs syndrome (ORPHA:50814)
Gene: SEC23A
Phenotype: Midface retrusion (HP:0011800)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: Congenital onset (HP:0003577)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: Coarse hair (HP:0002208)
Associated disease: Craniolenticulosutural dysplasia; Boyadjiev-Jabs syndrome (ORPHA:50814)
Gene: SEC23A
Phenotype: Coarse hair (HP:0002208)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: Brittle hair (HP:0002299)
Associated disease: Craniolenticulosutural dysplasia; Boyadjiev-Jabs syndrome (ORPHA:50814)
Gene: SEC23A
Phenotype: Brittle hair (HP:0002299)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Craniolenticulosutural dysplasia; Boyadjiev-Jabs syndrome (ORPHA:50814)
Gene: SEC23A
Phenotype: Posterior wedging of vertebral bodies (HP:0008444)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)