TaoMedAI/RareMedData huggingface dataset:
Gene: TERT
Phenotype: Freckling (HP:0001480)
Associated disease: Familial melanoma (ORPHA:618)
Gene: TERT
Phenotype: Abnormal circulating dehydroepiandrosterone concentration (HP:0500022)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TERT
Phenotype: Reticular hyperpigmentation (HP:0007588)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TERT
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Gene: TERT
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TERT
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TERT
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 (OMIM:613989)
Gene: TERT
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Gene: TERT
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TERT
Phenotype: Malabsorption (HP:0002024)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: TERT
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 (OMIM:614742)
Gene: TERT
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TERT
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 (OMIM:613989)
Gene: TERT
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Dyspnea (HP:0002094)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: TERT
Phenotype: Dyspnea (HP:0002094)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 (OMIM:614742)
Gene: TERT
Phenotype: Dyspnea (HP:0002094)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TERT
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: TERT
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Familial melanoma (ORPHA:618)
Gene: TERT
Phenotype: Esophageal stricture (HP:0002043)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 (OMIM:613989)
Gene: TERT
Phenotype: Pulmonic regurgitation (HP:0010444)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: TERT
Phenotype: Esophageal stenosis (HP:0010450)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Neoplasm of the posterior pituitary (HP:0011752)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Adrenocorticotropic hormone deficiency (HP:0011748)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TERT
Phenotype: Neoplasm of the anterior pituitary (HP:0011750)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Abnormal central sensory function (HP:0011730)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TERT
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TERT
Phenotype: Paradoxical increased cortisol secretion on dexamethasone suppression test (HP:0003466)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TERT
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: TERT
Phenotype: Back pain (HP:0003418)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 (OMIM:613989)
Gene: TERT
Phenotype: Secondary growth hormone deficiency (HP:0008240)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Pituitary hypothyroidism (HP:0008245)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Hypothalamic hypothyroidism (HP:0008237)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Transient global amnesia (HP:0010534)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Reduced circulating prolactin concentration (HP:0008202)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Middle age onset (HP:0003596)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 (OMIM:613989)
Gene: TERT
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Adult onset (HP:0003581)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 (OMIM:614742)
Gene: TERT
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 (OMIM:614742)
Gene: TERT
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TERT
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 (OMIM:613989)
Gene: TERT
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TERT
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: TERT
Phenotype: White forelock (HP:0002211)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 (OMIM:613989)
Gene: TERT
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TERT
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 (OMIM:614742)
Gene: TERT
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: TERT
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TERT
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 (OMIM:613989)
Gene: TERT
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: TERT
Phenotype: Abnormality of the lymphatic system (HP:0100763)
Associated disease: Familial melanoma (ORPHA:618)
Gene: TERT
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TERT
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 (OMIM:613989)
Gene: TERT
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TERT
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Increased circulating immunoglobulin concentration (HP:0010702)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: TERT
Phenotype: Mediastinal lymphadenopathy (HP:0100721)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 (OMIM:614742)
Gene: TERT
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 (OMIM:614742)
Gene: TERT
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: TERT
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: TERT
Phenotype: Orthodeoxia (HP:0033367)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: TERT
Phenotype: Facial palsy (HP:0010628)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Aplastic/hypoplastic toenail (HP:0010624)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Gene: TERT
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Neurofibroma (HP:0001067)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Acrocyanosis (HP:0001063)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: TERT
Phenotype: Striae distensae (HP:0001065)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TERT
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Memory impairment (HP:0002354)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Headache (HP:0002315)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Neoplasm of the tongue (HP:0100648)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Trigeminal neuralgia (HP:0100661)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Skin vesicle (HP:0200037)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Hemifacial spasm (HP:0010828)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Coarse metaphyseal trabecularization (HP:0100670)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Displacement of the urethral meatus (HP:0100627)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Skin ulcer (HP:0200042)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Papilledema (HP:0001085)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 (OMIM:613989)
Gene: TERT
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 (OMIM:614742)
Gene: TERT
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TERT
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 (OMIM:613989)
Gene: TERT
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: APLASTIC ANEMIA (OMIM:609135)
Gene: TERT
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Gene: TERT
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TERT
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Bitemporal hemianopia (HP:0030521)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Increased mean corpuscular volume (HP:0005518)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TERT
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Visual acuity test abnormality (HP:0030532)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Palpitations (HP:0001962)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TERT
Phenotype: Blindness (HP:0000618)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TERT
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TERT
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Abnormality of the pharynx (HP:0000600)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Anemia (HP:0001903)
Associated disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Gene: TERT
Phenotype: Anemia (HP:0001903)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 (OMIM:614742)
Gene: TERT
Phenotype: Anemia (HP:0001903)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TERT
Phenotype: Anemia (HP:0001903)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TERT
Phenotype: Anemia (HP:0001903)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Aplastic anemia (HP:0001915)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 (OMIM:614742)
Gene: TERT
Phenotype: Aplastic anemia (HP:0001915)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TERT
Phenotype: Aplastic anemia (HP:0001915)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 (OMIM:613989)
Gene: TERT
Phenotype: Aplastic anemia (HP:0001915)
Associated disease: APLASTIC ANEMIA (OMIM:609135)
Gene: TERT
Phenotype: Generalized hypopigmentation of hair (HP:0011358)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TERT
Phenotype: White hair (HP:0011364)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Focal T2 hypointense thalamic lesion (HP:0012691)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Taurodontia (HP:0000679)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Abnormal brain FDG positron emission tomography (HP:0012658)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Carious teeth (HP:0000670)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TERT
Phenotype: Carious teeth (HP:0000670)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Hypodontia (HP:0000668)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Increased body weight (HP:0004324)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TERT
Phenotype: Short stature (HP:0004322)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TERT
Phenotype: Short stature (HP:0004322)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 (OMIM:613989)
Gene: TERT
Phenotype: Short stature (HP:0004322)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TERT
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TERT
Phenotype: Usual interstitial pneumonia (HP:0031950)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 (OMIM:614742)
Gene: TERT
Phenotype: Usual interstitial pneumonia (HP:0031950)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: TERT
Phenotype: Usual interstitial pneumonia (HP:0031950)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: TERT
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Impotence (HP:0000802)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Spinal meningioma (HP:0100010)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Neoplasm of the breast (HP:0100013)
Associated disease: Familial melanoma (ORPHA:618)
Gene: TERT
Phenotype: Intracranial meningioma (HP:0100009)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Cough (HP:0012735)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: TERT
Phenotype: Cough (HP:0012735)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: TERT
Phenotype: Cough (HP:0012735)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 (OMIM:614742)
Gene: TERT
Phenotype: Anorectal anomaly (HP:0012732)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Macule (HP:0012733)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Irritability (HP:0000737)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TERT
Phenotype: Anxiety (HP:0000739)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TERT
Phenotype: Emotional lability (HP:0000712)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Periodontitis (HP:0000704)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Abnormal kinetic perimetry test (HP:0030591)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Young adult onset (HP:0011462)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 (OMIM:613989)
Gene: TERT
Phenotype: Abnormal central motor function (HP:0011442)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Abnormality of urine homeostasis (HP:0003110)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TERT
Phenotype: Increased circulating cortisol level (HP:0003118)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TERT
Phenotype: Ear pain (HP:0030766)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Increased circulating aldosterone concentration (HP:0000859)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TERT
Phenotype: Increased circulating prolactin concentration (HP:0000870)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TERT
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Hypertension (HP:0000822)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TERT
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Abnormal mediastinum morphology (HP:0045026)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Decreased DLCO (HP:0045051)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: TERT
Phenotype: Decreased DLCO (HP:0045051)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 (OMIM:614742)
Gene: TERT
Phenotype: Decreased DLCO (HP:0045051)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: TERT
Phenotype: Crackles (HP:0030830)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 (OMIM:614742)
Gene: TERT
Phenotype: Crackles (HP:0030830)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: TERT
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TERT
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TERT
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 (OMIM:613989)
Gene: TERT
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Dry skin (HP:0000958)
Associated disease: Familial melanoma (ORPHA:618)
Gene: TERT
Phenotype: Osteoporosis (HP:0000939)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 (OMIM:613989)
Gene: TERT
Phenotype: Osteoporosis (HP:0000939)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TERT
Phenotype: Osteoporosis (HP:0000939)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Osteopenia (HP:0000938)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 (OMIM:614742)
Gene: TERT
Phenotype: Sparse hair (HP:0008070)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TERT
Phenotype: Sparse hair (HP:0008070)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)