TaoMedAI/RareMedData huggingface dataset:
Gene: TERT
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Weak extraocular muscles (HP:0007715)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Abnormal hypothalamus physiology (HP:0012285)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Familial melanoma (ORPHA:618)
Gene: TERT
Phenotype: Alopecia (HP:0001596)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TERT
Phenotype: Alopecia (HP:0001596)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Oculomotor nerve palsy (HP:0012246)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Short telomere length (HP:0031413)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 (OMIM:614742)
Gene: TERT
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Gene: TERT
Phenotype: Lung adenocarcinoma (HP:0030078)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TERT
Phenotype: Urethral stricture (HP:0012227)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 (OMIM:613989)
Gene: TERT
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Microcephaly (HP:0000252)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TERT
Phenotype: Microcephaly (HP:0000252)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 (OMIM:613989)
Gene: TERT
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: TERT
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: TERT
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: Familial melanoma (ORPHA:618)
Gene: TERT
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Gene: TERT
Phenotype: Melanoma (HP:0002861)
Associated disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 (OMIM:615134)
Gene: TERT
Phenotype: Melanoma (HP:0002861)
Associated disease: Familial melanoma (ORPHA:618)
Gene: TERT
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 (OMIM:614742)
Gene: TERT
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 (OMIM:614742)
Gene: TERT
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TERT
Phenotype: Ecchymosis (HP:0031364)
Associated disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Gene: TERT
Phenotype: Failure to thrive (HP:0001508)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 (OMIM:613989)
Gene: TERT
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TERT
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TERT
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Obesity (HP:0001513)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Fatigue (HP:0012378)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: TERT
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: TERT
Phenotype: Interstitial pneumonitis (HP:0006515)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TERT
Phenotype: Alveolar cell carcinoma (HP:0006519)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: TERT
Phenotype: Progressive pulmonary function impairment (HP:0006520)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Decreased circulating ACTH concentration (HP:0002920)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TERT
Phenotype: Premature loss of teeth (HP:0006480)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TERT
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Tinnitus (HP:0000360)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Myeloid leukemia (HP:0012324)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 (OMIM:614742)
Gene: TERT
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 (OMIM:613989)
Gene: TERT
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Slow decrease in visual acuity (HP:0007924)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Subpleural honeycombing (HP:0031631)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: TERT
Phenotype: Elevated bronchoalveolar lavage fluid neutrophil proportion (HP:0032977)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: TERT
Phenotype: Abnormal eyelash morphology (HP:0000499)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Blepharitis (HP:0000498)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Cellular immunodeficiency (HP:0005374)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Increased sensitivity to ionizing radiation (HP:0011133)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Retinopathy (HP:0000488)
Associated disease: Familial melanoma (ORPHA:618)
Gene: TERT
Phenotype: Splenomegaly (HP:0001744)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Epistaxis (HP:0000421)
Associated disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Gene: TERT
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: Familial melanoma (ORPHA:618)
Gene: TERT
Phenotype: Squamous cell carcinoma of the skin (HP:0006739)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TERT
Phenotype: Adrenocortical carcinoma (HP:0006744)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TERT
Phenotype: Enlarged pituitary gland (HP:0012505)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Cataract (HP:0000518)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Proptosis (HP:0000520)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Weight loss (HP:0001824)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TERT
Phenotype: Ridged nail (HP:0001807)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TERT
Phenotype: Nail pits (HP:0001803)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TERT
Phenotype: Increased circulating androgen concentration (HP:0030348)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TERT
Phenotype: Decreased circulating luteinizing hormone level (HP:0030344)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Decreased circulating follicle stimulating hormone concentration (HP:0030341)
Associated disease: Meningioma (ORPHA:2495)
Gene: TERT
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TERT
Phenotype: Retinal hemorrhage (HP:0000573)
Associated disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Gene: TERT
Phenotype: Reticulocytopenia (HP:0001896)
Associated disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Gene: TERT
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Abnormal leukocyte morphology (HP:0001881)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TERT
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TERT
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 (OMIM:613989)
Gene: TERT
Phenotype: Abnormality of neutrophils (HP:0001874)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 (OMIM:613989)
Gene: TERT
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Gene: TERT
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: TERT
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Gene: TERT
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TERT
Phenotype: Pancytopenia (HP:0001876)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 (OMIM:613989)
Gene: TERT
Phenotype: Pancytopenia (HP:0001876)
Associated disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Gene: TERT
Phenotype: Pancytopenia (HP:0001876)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 (OMIM:614742)
Gene: TERT
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 (OMIM:613989)
Gene: TERT
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Gene: TF
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: ATRANSFERRINEMIA (OMIM:209300)
Gene: TF
Phenotype: Arthritis (HP:0001369)
Associated disease: Congenital atransferrinemia; Congenital hypotransferrinemia (ORPHA:1195)
Gene: TF
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ATRANSFERRINEMIA (OMIM:209300)
Gene: TF
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Congenital atransferrinemia; Congenital hypotransferrinemia (ORPHA:1195)
Gene: TF
Phenotype: Hypochromic anemia (HP:0001931)
Associated disease: ATRANSFERRINEMIA (OMIM:209300)
Gene: TF
Phenotype: Anemia (HP:0001903)
Associated disease: Congenital atransferrinemia; Congenital hypotransferrinemia (ORPHA:1195)
Gene: TF
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Congenital atransferrinemia; Congenital hypotransferrinemia (ORPHA:1195)
Gene: TF
Phenotype: Atransferrinemia (HP:0012239)
Associated disease: ATRANSFERRINEMIA (OMIM:209300)
Gene: TF
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: Congenital atransferrinemia; Congenital hypotransferrinemia (ORPHA:1195)
Gene: TF
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: ATRANSFERRINEMIA (OMIM:209300)
Gene: TF
Phenotype: Abnormality of the pancreas (HP:0001732)
Associated disease: Congenital atransferrinemia; Congenital hypotransferrinemia (ORPHA:1195)
Gene: TFAM
Phenotype: Lethargy (HP:0001254)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) (OMIM:617156)
Gene: TFAM
Phenotype: Cholestasis (HP:0001396)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) (OMIM:617156)
Gene: TFAM
Phenotype: Hepatic failure (HP:0001399)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) (OMIM:617156)
Gene: TFAM
Phenotype: Cirrhosis (HP:0001394)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) (OMIM:617156)
Gene: TFAM
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) (OMIM:617156)
Gene: TFAM
Phenotype: Microvesicular hepatic steatosis (HP:0001414)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) (OMIM:617156)
Gene: TFAM
Phenotype: Respiratory distress (HP:0002098)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) (OMIM:617156)
Gene: TFAM
Phenotype: Progressive (HP:0003676)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) (OMIM:617156)
Gene: TFAM
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) (OMIM:617156)
Gene: TFAM
Phenotype: 4-hydroxyphenylacetic aciduria (HP:0003607)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) (OMIM:617156)
Gene: TFAM
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) (OMIM:617156)
Gene: TFAM
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) (OMIM:617156)
Gene: TFAM
Phenotype: Depletion of mitochondrial DNA in muscle tissue (HP:0009141)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) (OMIM:617156)
Gene: TFAM
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) (OMIM:617156)
Gene: TFAM
Phenotype: 4-Hydroxyphenylpyruvic aciduria (HP:0003161)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) (OMIM:617156)
Gene: TFAM
Phenotype: Hypermethioninemia (HP:0003235)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) (OMIM:617156)
Gene: TFAM
Phenotype: Hypertyrosinemia (HP:0003231)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) (OMIM:617156)
Gene: TFAM
Phenotype: Abdominal distention (HP:0003270)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) (OMIM:617156)
Gene: TFAM
Phenotype: Jaundice (HP:0000952)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) (OMIM:617156)
Gene: TFAM
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) (OMIM:617156)
Gene: TFAM
Phenotype: Death in infancy (HP:0001522)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) (OMIM:617156)
Gene: TFAM
Phenotype: Ascites (HP:0001541)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) (OMIM:617156)
Gene: TFAM
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) (OMIM:617156)
Gene: TFAM
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) (OMIM:617156)
Gene: TFAM
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) (OMIM:617156)
Gene: TFAM
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) (OMIM:617156)
Gene: TFAM
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) (OMIM:617156)
Gene: TFAM
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) (OMIM:617156)
Gene: TFAP2A
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: BOFS; Branchio-oculo-facial syndrome (ORPHA:1297)
Gene: TFAP2A
Phenotype: Supraauricular pit (HP:0008606)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Supraauricular pit (HP:0008606)
Associated disease: BOFS; Branchio-oculo-facial syndrome (ORPHA:1297)
Gene: TFAP2A
Phenotype: Microtia (HP:0008551)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Hypoplastic superior helix (HP:0008559)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Dermoid cyst (HP:0025247)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Seizure (HP:0001250)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Hypospadias (HP:0000047)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: BOFS; Branchio-oculo-facial syndrome (ORPHA:1297)
Gene: TFAP2A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Lower lip pit (HP:0000196)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Cleft palate (HP:0000175)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: BOFS; Branchio-oculo-facial syndrome (ORPHA:1297)
Gene: TFAP2A
Phenotype: Renal cyst (HP:0000107)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Renal agenesis (HP:0000104)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Renal agenesis (HP:0000104)
Associated disease: BOFS; Branchio-oculo-facial syndrome (ORPHA:1297)
Gene: TFAP2A
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Deep philtrum (HP:0002002)
Associated disease: BOFS; Branchio-oculo-facial syndrome (ORPHA:1297)
Gene: TFAP2A
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Malrotation of colon (HP:0004785)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: BOFS; Branchio-oculo-facial syndrome (ORPHA:1297)
Gene: TFAP2A
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Hamartoma (HP:0010566)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Ectopic thymus tissue (HP:0010517)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: BOFS; Branchio-oculo-facial syndrome (ORPHA:1297)
Gene: TFAP2A
Phenotype: White forelock (HP:0002211)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Fingernail dysplasia (HP:0100798)
Associated disease: BOFS; Branchio-oculo-facial syndrome (ORPHA:1297)
Gene: TFAP2A
Phenotype: Facial palsy (HP:0010628)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Aplasia cutis congenita (HP:0001057)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Hemangioma (HP:0001028)
Associated disease: BOFS; Branchio-oculo-facial syndrome (ORPHA:1297)
Gene: TFAP2A
Phenotype: Agenesis of cerebellar vermis (HP:0002335)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: BOFS; Branchio-oculo-facial syndrome (ORPHA:1297)
Gene: TFAP2A
Phenotype: Branchial anomaly (HP:0009794)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Dimple chin (HP:0010751)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Short thumb (HP:0009778)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Nystagmus (HP:0000639)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Iris coloboma (HP:0000612)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Iris coloboma (HP:0000612)
Associated disease: BOFS; Branchio-oculo-facial syndrome (ORPHA:1297)
Gene: TFAP2A
Phenotype: Microdontia (HP:0000691)
Associated disease: BOFS; Branchio-oculo-facial syndrome (ORPHA:1297)
Gene: TFAP2A
Phenotype: Cleft of chin (HP:0011323)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Short stature (HP:0004322)
Associated disease: BOFS; Branchio-oculo-facial syndrome (ORPHA:1297)
Gene: TFAP2A
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Preauricular pit (HP:0004467)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Preauricular pit (HP:0004467)
Associated disease: BOFS; Branchio-oculo-facial syndrome (ORPHA:1297)
Gene: TFAP2A
Phenotype: Postauricular pit (HP:0004464)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Postauricular pit (HP:0004464)
Associated disease: BOFS; Branchio-oculo-facial syndrome (ORPHA:1297)
Gene: TFAP2A
Phenotype: Non-midline cleft of the upper lip (HP:0100335)
Associated disease: BOFS; Branchio-oculo-facial syndrome (ORPHA:1297)
Gene: TFAP2A
Phenotype: Upper lip pit (HP:0100268)
Associated disease: BOFS; Branchio-oculo-facial syndrome (ORPHA:1297)
Gene: TFAP2A
Phenotype: Atypical scarring of skin (HP:0000987)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Atypical scarring of skin (HP:0000987)
Associated disease: BOFS; Branchio-oculo-facial syndrome (ORPHA:1297)