TaoMedAI/RareMedData huggingface dataset:
Gene: KCNH1
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: TEMPLE-BARAITSER SYNDROME (OMIM:611816)
Gene: KCNH1
Phenotype: Large fleshy ears (HP:0002265)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Infantile onset (HP:0003593)
Associated disease: TEMPLE-BARAITSER SYNDROME (OMIM:611816)
Gene: KCNH1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Facial hypertrichosis (HP:0002219)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Pseudoepiphysis of the thumb (HP:0009693)
Associated disease: TEMPLE-BARAITSER SYNDROME (OMIM:611816)
Gene: KCNH1
Phenotype: Short phalanx of the thumb (HP:0009660)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Aplastic/hypoplastic toenail (HP:0010624)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Triangular shaped distal phalanx of the thumb (HP:0009648)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Hirsutism (HP:0001007)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Everted upper lip vermilion (HP:0010803)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Broad hallux (HP:0010055)
Associated disease: TEMPLE-BARAITSER SYNDROME (OMIM:611816)
Gene: KCNH1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Broad thumb (HP:0011304)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Broad thumb (HP:0011304)
Associated disease: TEMPLE-BARAITSER SYNDROME (OMIM:611816)
Gene: KCNH1
Phenotype: Hypodontia (HP:0000668)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Synophrys (HP:0000664)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Short stature (HP:0004322)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Anterior open-bite malocclusion (HP:0009102)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Flat forehead (HP:0004425)
Associated disease: TEMPLE-BARAITSER SYNDROME (OMIM:611816)
Gene: KCNH1
Phenotype: Abnormal external genitalia morphology (HP:0000811)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Generalized hypertrichosis (HP:0004554)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Soft skin (HP:0000977)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Epicanthus (HP:0000286)
Associated disease: TEMPLE-BARAITSER SYNDROME (OMIM:611816)
Gene: KCNH1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Full cheeks (HP:0000293)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Full cheeks (HP:0000293)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Malar flattening (HP:0000272)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Aortic arch aneurysm (HP:0005113)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Overtubulated long bones (HP:0006391)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: High palate (HP:0000218)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: High palate (HP:0000218)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: High palate (HP:0000218)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Growth abnormality (HP:0001507)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Growth delay (HP:0001510)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Supernumerary tooth (HP:0011069)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Low-set ears (HP:0000369)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Long philtrum (HP:0000343)
Associated disease: TEMPLE-BARAITSER SYNDROME (OMIM:611816)
Gene: KCNH1
Phenotype: Long philtrum (HP:0000343)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Long philtrum (HP:0000343)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Broad forehead (HP:0000337)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: High forehead (HP:0000348)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: TEMPLE-BARAITSER SYNDROME (OMIM:611816)
Gene: KCNH1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: TEMPLE-BARAITSER SYNDROME (OMIM:611816)
Gene: KCNH1
Phenotype: Short philtrum (HP:0000322)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: TEMPLE-BARAITSER SYNDROME (OMIM:611816)
Gene: KCNH1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Macrotia (HP:0000400)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: TEMPLE-BARAITSER SYNDROME (OMIM:611816)
Gene: KCNH1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: TEMPLE-BARAITSER SYNDROME (OMIM:611816)
Gene: KCNH1
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Small nail (HP:0001792)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Short neck (HP:0000470)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Abnormal brain morphology (HP:0012443)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Anonychia (HP:0001798)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Pes planus (HP:0001763)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Wide nose (HP:0000445)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Wide nose (HP:0000445)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Wide nose (HP:0000445)
Associated disease: TEMPLE-BARAITSER SYNDROME (OMIM:611816)
Gene: KCNH1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Pes cavus (HP:0001761)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Cataract (HP:0000518)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Cataract (HP:0000518)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Long hallux (HP:0001847)
Associated disease: TEMPLE-BARAITSER SYNDROME (OMIM:611816)
Gene: KCNH1
Phenotype: Long hallux (HP:0001847)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Long eyelashes (HP:0000527)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Long eyelashes (HP:0000527)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Short distal phalanx of toe (HP:0001857)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Hallux valgus (HP:0001822)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Telecanthus (HP:0000506)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Hypoplastic fingernail (HP:0001804)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Hypoplastic fingernail (HP:0001804)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Absent toenail (HP:0001802)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Absent fingernail (HP:0001817)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Absent thumbnail (HP:0012554)
Associated disease: TEMPLE-BARAITSER SYNDROME (OMIM:611816)
Gene: KCNH1
Phenotype: Absent nail of hallux (HP:0012555)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Absent nail of hallux (HP:0012555)
Associated disease: TEMPLE-BARAITSER SYNDROME (OMIM:611816)
Gene: KCNH1
Phenotype: Hypoplastic thumbnail (HP:0012553)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Hypoplastic thumbnail (HP:0012553)
Associated disease: TEMPLE-BARAITSER SYNDROME (OMIM:611816)
Gene: KCNH1
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Deep plantar creases (HP:0001869)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Myopia (HP:0000545)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH2
Phenotype: Abnormality of prenatal development or birth (HP:0001197)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNH2
Phenotype: Syncope (HP:0001279)
Associated disease: SHORT QT SYNDROME 1 (OMIM:609620)
Gene: KCNH2
Phenotype: Syncope (HP:0001279)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNH2
Phenotype: Syncope (HP:0001279)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: KCNH2
Phenotype: Syncope (HP:0001279)
Associated disease: LONG QT SYNDROME 2 (OMIM:613688)
Gene: KCNH2
Phenotype: Seizure (HP:0001250)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNH2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCNH2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LONG QT SYNDROME 2 (OMIM:613688)
Gene: KCNH2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SHORT QT SYNDROME 1 (OMIM:609620)
Gene: KCNH2
Phenotype: Abnormal cardiac exercise stress test (HP:0500018)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNH2
Phenotype: Paroxysmal atrial fibrillation (HP:0004757)
Associated disease: SHORT QT SYNDROME 1 (OMIM:609620)
Gene: KCNH2
Phenotype: Adult onset (HP:0003581)
Associated disease: LONG QT SYNDROME 2 (OMIM:613688)
Gene: KCNH2
Phenotype: Palpitations (HP:0001962)
Associated disease: SHORT QT SYNDROME 1 (OMIM:609620)
Gene: KCNH2
Phenotype: Palpitations (HP:0001962)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: KCNH2
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNH2
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: KCNH2
Phenotype: Childhood onset (HP:0011463)
Associated disease: LONG QT SYNDROME 2 (OMIM:613688)
Gene: KCNH2
Phenotype: Notched T wave (HP:0034303)
Associated disease: LONG QT SYNDROME 2 (OMIM:613688)
Gene: KCNH2
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCNH2
Phenotype: Abnormal T-wave (HP:0005135)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNH2
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: KCNH2
Phenotype: Shortened QT interval (HP:0012232)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: KCNH2
Phenotype: Shortened QT interval (HP:0012232)
Associated disease: SHORT QT SYNDROME 1 (OMIM:609620)
Gene: KCNH2
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNH2
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: LONG QT SYNDROME 2 (OMIM:613688)
Gene: KCNH2
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNH2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNH2
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: SHORT QT SYNDROME 1 (OMIM:609620)
Gene: KCNH2
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: LONG QT SYNDROME 2 (OMIM:613688)
Gene: KCNH2
Phenotype: Sinus bradycardia (HP:0001688)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNH2
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNH2
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNH2
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCNH2
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: LONG QT SYNDROME 2 (OMIM:613688)
Gene: KCNH2
Phenotype: Atrioventricular block (HP:0001678)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)