TaoMedAI/RareMedData huggingface dataset:
Gene: MYCN
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1; MODED syndrome type 1; Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1; Feingold syndrome type 1; Oculo-digito-esophageal-duodenal syndrome type 1; ODED syndrome type 1; FS1; Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1; Microcephaly-digital anomalies-normal intelligence syndrome type 1; FGLDS1; Brunner-Winter syndrome type 1; MMT type 1 (ORPHA:391641)
Gene: MYCN
Phenotype: Annular pancreas (HP:0001734)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1; MODED syndrome type 1; Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1; Feingold syndrome type 1; Oculo-digito-esophageal-duodenal syndrome type 1; ODED syndrome type 1; FS1; Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1; Microcephaly-digital anomalies-normal intelligence syndrome type 1; FGLDS1; Brunner-Winter syndrome type 1; MMT type 1 (ORPHA:391641)
Gene: MYCN
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Anteverted nares (HP:0000463)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1; MODED syndrome type 1; Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1; Feingold syndrome type 1; Oculo-digito-esophageal-duodenal syndrome type 1; ODED syndrome type 1; FS1; Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1; Microcephaly-digital anomalies-normal intelligence syndrome type 1; FGLDS1; Brunner-Winter syndrome type 1; MMT type 1 (ORPHA:391641)
Gene: MYCN
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Depressed nasal tip (HP:0000437)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Asplenia (HP:0001746)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Polysplenia (HP:0001748)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Accessory spleen (HP:0001747)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYCN
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Proptosis (HP:0000520)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: MYCN
Phenotype: Weight loss (HP:0001824)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: MYCN
Phenotype: Short toe (HP:0001831)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Gene: MYCN
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Laterally extended eyebrow (HP:0011230)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: MYCN
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Gene: MYCN
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYCN
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYCN
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: MYD88
Phenotype: Stroke (HP:0001297)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Sepsis (HP:0100806)
Associated disease: IMMUNODEFICIENCY 68 (OMIM:612260)
Gene: MYD88
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1 (OMIM:153600)
Gene: MYD88
Phenotype: Ataxia (HP:0001251)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: IMMUNODEFICIENCY 68 (OMIM:612260)
Gene: MYD88
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Recurrent staphylococcal infections (HP:0007499)
Associated disease: Transient predisposition to invasive pyogenic bacterial infection (ORPHA:70592)
Gene: MYD88
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 68 (OMIM:612260)
Gene: MYD88
Phenotype: Lymphoma (HP:0002665)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Lymphoma (HP:0002665)
Associated disease: MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1 (OMIM:153600)
Gene: MYD88
Phenotype: Vasculitis (HP:0002633)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Delayed umbilical cord separation (HP:0032434)
Associated disease: IMMUNODEFICIENCY 68 (OMIM:612260)
Gene: MYD88
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1 (OMIM:153600)
Gene: MYD88
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: Transient predisposition to invasive pyogenic bacterial infection (ORPHA:70592)
Gene: MYD88
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Transient predisposition to invasive pyogenic bacterial infection (ORPHA:70592)
Gene: MYD88
Phenotype: Malabsorption (HP:0002024)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Impaired lymphocyte transformation with phytohemagglutinin (HP:0003347)
Associated disease: MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1 (OMIM:153600)
Gene: MYD88
Phenotype: Diarrhea (HP:0002014)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Periorbital edema (HP:0100539)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Migraine (HP:0002076)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Anorexia (HP:0002039)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Polyclonal elevation of IgM (HP:0003459)
Associated disease: MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1 (OMIM:153600)
Gene: MYD88
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Pleural effusion (HP:0002202)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Cryoglobulinemia (HP:0100778)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Hypercoagulability (HP:0100724)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Urticaria (HP:0001025)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Memory impairment (HP:0002354)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Vertigo (HP:0002321)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Pedal edema (HP:0010741)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Monoclonal immunoglobulin M proteinemia (HP:0005508)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Monoclonal immunoglobulin M proteinemia (HP:0005508)
Associated disease: MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1 (OMIM:153600)
Gene: MYD88
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Fever (HP:0001945)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Fever (HP:0001945)
Associated disease: Transient predisposition to invasive pyogenic bacterial infection (ORPHA:70592)
Gene: MYD88
Phenotype: Leukemia (HP:0001909)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Leukemia (HP:0001909)
Associated disease: MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1 (OMIM:153600)
Gene: MYD88
Phenotype: Recurrent meningitis (HP:0006946)
Associated disease: IMMUNODEFICIENCY 68 (OMIM:612260)
Gene: MYD88
Phenotype: Reduced consciousness (HP:0004372)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Septic arthritis (HP:0003095)
Associated disease: IMMUNODEFICIENCY 68 (OMIM:612260)
Gene: MYD88
Phenotype: Abnormal total natural killer cell count (HP:0040089)
Associated disease: IMMUNODEFICIENCY 68 (OMIM:612260)
Gene: MYD88
Phenotype: Pallor (HP:0000980)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Purpura (HP:0000979)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: IMMUNODEFICIENCY 68 (OMIM:612260)
Gene: MYD88
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Lymphadenitis (HP:0002840)
Associated disease: IMMUNODEFICIENCY 68 (OMIM:612260)
Gene: MYD88
Phenotype: Fatigue (HP:0012378)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Abscess (HP:0025615)
Associated disease: IMMUNODEFICIENCY 68 (OMIM:612260)
Gene: MYD88
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Recurrent streptococcus pneumoniae infections (HP:0005366)
Associated disease: Transient predisposition to invasive pyogenic bacterial infection (ORPHA:70592)
Gene: MYD88
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Epistaxis (HP:0000421)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Recurrent bacterial skin infections (HP:0005406)
Associated disease: Transient predisposition to invasive pyogenic bacterial infection (ORPHA:70592)
Gene: MYD88
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: IMMUNODEFICIENCY 68 (OMIM:612260)
Gene: MYD88
Phenotype: Proptosis (HP:0000520)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Retinal hemorrhage (HP:0000573)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Normocytic anemia (HP:0001897)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Abnormality of neutrophils (HP:0001874)
Associated disease: Waldenström macroglobulinemia (ORPHA:33226)
Gene: MYD88
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Transient predisposition to invasive pyogenic bacterial infection (ORPHA:70592)
Gene: MYF5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES (OMIM:618155)
Gene: MYF5
Phenotype: Scoliosis (HP:0002650)
Associated disease: OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES (OMIM:618155)
Gene: MYF5
Phenotype: Congenital onset (HP:0003577)
Associated disease: OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES (OMIM:618155)
Gene: MYF5
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES (OMIM:618155)
Gene: MYF5
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES (OMIM:618155)
Gene: MYF5
Phenotype: Short ribs (HP:0000773)
Associated disease: OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES (OMIM:618155)
Gene: MYF5
Phenotype: Missing ribs (HP:0000921)
Associated disease: OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES (OMIM:618155)
Gene: MYF5
Phenotype: Pseudoarthrosis (HP:0005864)
Associated disease: OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES (OMIM:618155)
Gene: MYF5
Phenotype: Hypotropia (HP:0025584)
Associated disease: OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES (OMIM:618155)
Gene: MYF5
Phenotype: Basilar invagination (HP:0012366)
Associated disease: OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES (OMIM:618155)
Gene: MYF5
Phenotype: Torticollis (HP:0000473)
Associated disease: OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES (OMIM:618155)
Gene: MYF5
Phenotype: Ptosis (HP:0000508)
Associated disease: OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES (OMIM:618155)
Gene: MYF5
Phenotype: Exotropia (HP:0000577)
Associated disease: OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES (OMIM:618155)
Gene: MYF5
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES (OMIM:618155)
Gene: MYF6
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MYF6
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MYF6
Phenotype: Gait disturbance (HP:0001288)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MYF6
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MYF6
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MYF6
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MYF6
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MYF6
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MYF6
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MYF6
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MYF6
Phenotype: Abnormality of the foot musculature (HP:0001436)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MYF6
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MYF6
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MYF6
Phenotype: Malignant hyperthermia (HP:0002047)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MYF6
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MYF6
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MYF6
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MYF6
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MYF6
Phenotype: Muscle fibrillation (HP:0010546)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MYF6
Phenotype: Cavernous hemangioma (HP:0001048)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MYF6
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MYF6
Phenotype: Neonatal asphyxia (HP:0012768)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MYF6
Phenotype: Macrocephaly at birth (HP:0004488)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MYF6
Phenotype: Thin ribs (HP:0000883)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MYF6
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MYF6
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MYF6
Phenotype: Large for gestational age (HP:0001520)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MYF6
Phenotype: Miscarriage (HP:0005268)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MYF6
Phenotype: Ptosis (HP:0000508)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MYF6
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MYH2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: MYOPATHY, PROXIMAL, WITH OPHTHALMOPLEGIA (OMIM:605637)
Gene: MYH2
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MYOPATHY, PROXIMAL, WITH OPHTHALMOPLEGIA (OMIM:605637)
Gene: MYH2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MYOPATHY, PROXIMAL, WITH OPHTHALMOPLEGIA (OMIM:605637)
Gene: MYH2
Phenotype: Waddling gait (HP:0002515)
Associated disease: MYOPATHY, PROXIMAL, WITH OPHTHALMOPLEGIA (OMIM:605637)
Gene: MYH2
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: MYOPATHY, PROXIMAL, WITH OPHTHALMOPLEGIA (OMIM:605637)
Gene: MYH2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYOPATHY, PROXIMAL, WITH OPHTHALMOPLEGIA (OMIM:605637)
Gene: MYH2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOPATHY, PROXIMAL, WITH OPHTHALMOPLEGIA (OMIM:605637)
Gene: MYH2
Phenotype: Scoliosis (HP:0002650)
Associated disease: MYOPATHY, PROXIMAL, WITH OPHTHALMOPLEGIA (OMIM:605637)
Gene: MYH2
Phenotype: Dysphagia (HP:0002015)
Associated disease: MYOPATHY, PROXIMAL, WITH OPHTHALMOPLEGIA (OMIM:605637)
Gene: MYH2
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: MYOPATHY, PROXIMAL, WITH OPHTHALMOPLEGIA (OMIM:605637)
Gene: MYH2
Phenotype: Myopathic facies (HP:0002058)
Associated disease: MYOPATHY, PROXIMAL, WITH OPHTHALMOPLEGIA (OMIM:605637)
Gene: MYH2
Phenotype: Congenital onset (HP:0003577)
Associated disease: MYOPATHY, PROXIMAL, WITH OPHTHALMOPLEGIA (OMIM:605637)
Gene: MYH2
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MYOPATHY, PROXIMAL, WITH OPHTHALMOPLEGIA (OMIM:605637)
Gene: MYH2
Phenotype: Scapular winging (HP:0003691)
Associated disease: MYOPATHY, PROXIMAL, WITH OPHTHALMOPLEGIA (OMIM:605637)
Gene: MYH2
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: MYOPATHY, PROXIMAL, WITH OPHTHALMOPLEGIA (OMIM:605637)
Gene: MYH2
Phenotype: Myopathy (HP:0003198)
Associated disease: MYOPATHY, PROXIMAL, WITH OPHTHALMOPLEGIA (OMIM:605637)
Gene: MYH2
Phenotype: Muscle fiber inclusion bodies (HP:0100299)
Associated disease: MYOPATHY, PROXIMAL, WITH OPHTHALMOPLEGIA (OMIM:605637)
Gene: MYH2
Phenotype: Congenital contracture (HP:0002803)
Associated disease: MYOPATHY, PROXIMAL, WITH OPHTHALMOPLEGIA (OMIM:605637)
Gene: MYH2
Phenotype: High palate (HP:0000218)
Associated disease: MYOPATHY, PROXIMAL, WITH OPHTHALMOPLEGIA (OMIM:605637)
Gene: MYH2
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: MYOPATHY, PROXIMAL, WITH OPHTHALMOPLEGIA (OMIM:605637)
Gene: MYH2
Phenotype: Ptosis (HP:0000508)
Associated disease: MYOPATHY, PROXIMAL, WITH OPHTHALMOPLEGIA (OMIM:605637)
Gene: MYH3
Phenotype: Adducted thumb (HP:0001181)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B3 (OMIM:618436)
Gene: MYH3
Phenotype: Adducted thumb (HP:0001181)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: MYH3
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: MYH3
Phenotype: Ulnar deviation of the hand or of fingers of the hand (HP:0001193)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Nevus (HP:0003764)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: MYH3
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYH3
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)