TaoMedAI/RareMedData huggingface dataset:
Gene: TSC2
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Gene: TSC2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Lymphedema (HP:0001004)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC2
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC2
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC2
Phenotype: Hemimegalencephaly (HP:0007206)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Hemimegalencephaly (HP:0007206)
Associated disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Gene: TSC2
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC2
Phenotype: Skin plaque (HP:0200035)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Epidermoid cyst (HP:0200040)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Chordoma (HP:0010762)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Absence of renal corticomedullary differentiation (HP:0005564)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC2
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC2
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC2
Phenotype: Fever (HP:0001945)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC2
Phenotype: Anemia (HP:0001903)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: TSC2
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC2
Phenotype: Generalized abnormality of skin (HP:0011354)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC2
Phenotype: Colon cancer (HP:0003003)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: TSC2
Phenotype: Colon cancer (HP:0003003)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: TSC2
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: TSC2
Phenotype: Multiple gastric polyps (HP:0004394)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: TSC2
Phenotype: Second trimester onset (HP:0034198)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC2
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Cough (HP:0012735)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC2
Phenotype: Macule (HP:0012733)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC2
Phenotype: Anxiety (HP:0000739)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Depression (HP:0000716)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Autism (HP:0000717)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Autism (HP:0000717)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Pulmonary lymphangiomyomatosis (HP:0012798)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Pulmonary lymphangiomyomatosis (HP:0012798)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Pulmonary lymphangiomyomatosis (HP:0012798)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC2
Phenotype: Pulmonary lymphangiomyomatosis (HP:0012798)
Associated disease: LYMPHANGIOLEIOMYOMATOSIS (OMIM:606690)
Gene: TSC2
Phenotype: Retinal astrocytic hamartoma (HP:0012778)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Hematuria (HP:0000790)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC2
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC2
Phenotype: Precocious puberty (HP:0000826)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Hypertension (HP:0000822)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Chorioretinal hypopigmentation (HP:0040030)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC2
Phenotype: Chylothorax (HP:0010310)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC2
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC2
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC2
Phenotype: Parathyroid adenoma (HP:0002897)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Pituitary adenoma (HP:0002893)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Ependymoma (HP:0002888)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Ascites (HP:0001541)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC2
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: TSC2
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Fatigue (HP:0012378)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC2
Phenotype: Internal hemorrhage (HP:0011029)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: TSC2
Phenotype: Hypokalemia (HP:0002900)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: TSC2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC2
Phenotype: Bradycardia (HP:0001662)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC2
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC2
Phenotype: Wolff-Parkinson-White syndrome (HP:0001716)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Infantile spasms (HP:0012469)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC2
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC2
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC2
Phenotype: Abnormal social behavior (HP:0012433)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC2
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: TSC2
Phenotype: Pancreatic endocrine tumor (HP:0030405)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Duodenal adenocarcinoma (HP:0006771)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: TSC2
Phenotype: Renal angiomyolipoma (HP:0006772)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Renal angiomyolipoma (HP:0006772)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Renal angiomyolipoma (HP:0006772)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC2
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC2
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSHB
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4 (OMIM:275100)
Gene: TSHB
Phenotype: Motor delay (HP:0001270)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4 (OMIM:275100)
Gene: TSHB
Phenotype: Lethargy (HP:0001254)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Hypotonia (HP:0001252)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Hypotonia (HP:0001252)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4 (OMIM:275100)
Gene: TSHB
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Decreased thyroid-stimulating hormone level (HP:0031098)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4 (OMIM:275100)
Gene: TSHB
Phenotype: Decreased thyroid-stimulating hormone level (HP:0031098)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Macroorchidism (HP:0000053)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Large sella turcica (HP:0002690)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Severe postnatal growth retardation (HP:0008850)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4 (OMIM:275100)
Gene: TSHB
Phenotype: Delayed proximal femoral epiphyseal ossification (HP:0008828)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4 (OMIM:275100)
Gene: TSHB
Phenotype: Abnormal circulating thyroglobulin concentration (HP:0025483)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Macroglossia (HP:0000158)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Macroglossia (HP:0000158)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4 (OMIM:275100)
Gene: TSHB
Phenotype: Increased pituitary glycoprotein hormone alpha subunit level (HP:0031208)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Reduced radioactive iodine uptake (HP:0031219)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Constipation (HP:0002019)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Thyroid hypoplasia (HP:0005990)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Hypothermia (HP:0002045)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Pituitary hypothyroidism (HP:0008245)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4 (OMIM:275100)
Gene: TSHB
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4 (OMIM:275100)
Gene: TSHB
Phenotype: Clumsiness (HP:0002312)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4 (OMIM:275100)
Gene: TSHB
Phenotype: Depression (HP:0000716)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Maternal autoimmune disease (HP:0011437)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Large posterior fontanelle (HP:0004491)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Goiter (HP:0000853)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Increased circulating prolactin concentration (HP:0000870)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4 (OMIM:275100)
Gene: TSHB
Phenotype: Neonatal hyperbilirubinemia (HP:0003265)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Dry skin (HP:0000958)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Dry skin (HP:0000958)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4 (OMIM:275100)
Gene: TSHB
Phenotype: Facial edema (HP:0000282)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4 (OMIM:275100)
Gene: TSHB
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4 (OMIM:275100)
Gene: TSHB
Phenotype: Omphalocele (HP:0001539)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4 (OMIM:275100)
Gene: TSHB
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Growth delay (HP:0001510)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Decreased circulating T4 concentration (HP:0031507)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4 (OMIM:275100)
Gene: TSHB
Phenotype: Decreased circulating T4 concentration (HP:0031507)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Fatigue (HP:0012378)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Hoarse cry (HP:0001615)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4 (OMIM:275100)
Gene: TSHB
Phenotype: Hoarse cry (HP:0001615)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Bradycardia (HP:0001662)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Isolated thyrotropin deficiency; Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency (ORPHA:90674)
Gene: TSHB
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4 (OMIM:275100)
Gene: TSHR
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: TSHR
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Athyreosis (ORPHA:95713)
Gene: TSHR
Phenotype: Sporadic (HP:0003745)
Associated disease: HYPERTHYROIDISM, NONAUTOIMMUNE (OMIM:609152)
Gene: TSHR
Phenotype: Motor delay (HP:0001270)
Associated disease: HYPERTHYROIDISM, NONAUTOIMMUNE (OMIM:609152)
Gene: TSHR
Phenotype: Motor delay (HP:0001270)
Associated disease: Familial gestational hyperthyroidism (ORPHA:99819)
Gene: TSHR
Phenotype: Motor delay (HP:0001270)
Associated disease: Resistance to thyroid stimulating hormone; Familial hyperthyroidism due to mutations in TSH receptor; Familial non-immune hyperthyroidism (ORPHA:424)
Gene: TSHR
Phenotype: Lethargy (HP:0001254)
Associated disease: Hypothyroidism due to TSH receptor mutations (ORPHA:90673)
Gene: TSHR
Phenotype: Lethargy (HP:0001254)
Associated disease: Athyreosis (ORPHA:95713)
Gene: TSHR
Phenotype: Hypotonia (HP:0001252)
Associated disease: Hypothyroidism due to TSH receptor mutations (ORPHA:90673)
Gene: TSHR
Phenotype: Hypotonia (HP:0001252)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: TSHR
Phenotype: Hypotonia (HP:0001252)
Associated disease: Athyreosis (ORPHA:95713)
Gene: TSHR
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HYPERTHYROIDISM, NONAUTOIMMUNE (OMIM:609152)
Gene: TSHR
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Hypothyroidism due to TSH receptor mutations (ORPHA:90673)