TaoMedAI/RareMedData huggingface dataset:
Gene: MVK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MVK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPER-IgD SYNDROME (OMIM:260920)
Gene: MVK
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MVK
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: POROKERATOSIS 3, MULTIPLE TYPES (OMIM:175900)
Gene: MVK
Phenotype: Vasculitis (HP:0002633)
Associated disease: Partial mevalonate kinase deficiency; HIDS; Hyper-IgD syndrome; Hyperimmunoglobulinemia D with periodic fever; Hyperimmunoglobinemia D with recurrent fever; Hyperimmunoglobulinemia D syndrome (ORPHA:343)
Gene: MVK
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Oral ulcer (HP:0000155)
Associated disease: HYPER-IgD SYNDROME (OMIM:260920)
Gene: MVK
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MVK
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MVK
Phenotype: Fluctuating splenomegaly (HP:0006268)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: HYPER-IgD SYNDROME (OMIM:260920)
Gene: MVK
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Complete mevalonate kinase deficiency; MVA; Mevalonic aciduria (ORPHA:29)
Gene: MVK
Phenotype: Recurrent infections (HP:0002719)
Associated disease: HYPER-IgD SYNDROME (OMIM:260920)
Gene: MVK
Phenotype: Recurrent infections (HP:0002719)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: HYPER-IgD SYNDROME (OMIM:260920)
Gene: MVK
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Partial mevalonate kinase deficiency; HIDS; Hyper-IgD syndrome; Hyperimmunoglobulinemia D with periodic fever; Hyperimmunoglobinemia D with recurrent fever; Hyperimmunoglobulinemia D syndrome (ORPHA:343)
Gene: MVK
Phenotype: Abdominal pain (HP:0002027)
Associated disease: HYPER-IgD SYNDROME (OMIM:260920)
Gene: MVK
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Partial mevalonate kinase deficiency; HIDS; Hyper-IgD syndrome; Hyperimmunoglobulinemia D with periodic fever; Hyperimmunoglobinemia D with recurrent fever; Hyperimmunoglobulinemia D syndrome (ORPHA:343)
Gene: MVK
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: HYPER-IgD SYNDROME (OMIM:260920)
Gene: MVK
Phenotype: Myalgia (HP:0003326)
Associated disease: HYPER-IgD SYNDROME (OMIM:260920)
Gene: MVK
Phenotype: Myalgia (HP:0003326)
Associated disease: Partial mevalonate kinase deficiency; HIDS; Hyper-IgD syndrome; Hyperimmunoglobulinemia D with periodic fever; Hyperimmunoglobinemia D with recurrent fever; Hyperimmunoglobulinemia D syndrome (ORPHA:343)
Gene: MVK
Phenotype: Diarrhea (HP:0002014)
Associated disease: HYPER-IgD SYNDROME (OMIM:260920)
Gene: MVK
Phenotype: Diarrhea (HP:0002014)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Diarrhea (HP:0002014)
Associated disease: Partial mevalonate kinase deficiency; HIDS; Hyper-IgD syndrome; Hyperimmunoglobulinemia D with periodic fever; Hyperimmunoglobinemia D with recurrent fever; Hyperimmunoglobulinemia D syndrome (ORPHA:343)
Gene: MVK
Phenotype: Vomiting (HP:0002013)
Associated disease: HYPER-IgD SYNDROME (OMIM:260920)
Gene: MVK
Phenotype: Vomiting (HP:0002013)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Migraine (HP:0002076)
Associated disease: Partial mevalonate kinase deficiency; HIDS; Hyper-IgD syndrome; Hyperimmunoglobulinemia D with periodic fever; Hyperimmunoglobinemia D with recurrent fever; Hyperimmunoglobulinemia D syndrome (ORPHA:343)
Gene: MVK
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Complete mevalonate kinase deficiency; MVA; Mevalonic aciduria (ORPHA:29)
Gene: MVK
Phenotype: Increased total neutrophil count (HP:0011897)
Associated disease: HYPER-IgD SYNDROME (OMIM:260920)
Gene: MVK
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPER-IgD SYNDROME (OMIM:260920)
Gene: MVK
Phenotype: Infantile onset (HP:0003593)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Partial mevalonate kinase deficiency; HIDS; Hyper-IgD syndrome; Hyperimmunoglobulinemia D with periodic fever; Hyperimmunoglobinemia D with recurrent fever; Hyperimmunoglobulinemia D syndrome (ORPHA:343)
Gene: MVK
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Partial mevalonate kinase deficiency; HIDS; Hyper-IgD syndrome; Hyperimmunoglobulinemia D with periodic fever; Hyperimmunoglobinemia D with recurrent fever; Hyperimmunoglobulinemia D syndrome (ORPHA:343)
Gene: MVK
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: HYPER-IgD SYNDROME (OMIM:260920)
Gene: MVK
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: Partial mevalonate kinase deficiency; HIDS; Hyper-IgD syndrome; Hyperimmunoglobulinemia D with periodic fever; Hyperimmunoglobinemia D with recurrent fever; Hyperimmunoglobulinemia D syndrome (ORPHA:343)
Gene: MVK
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: POROKERATOSIS 3, MULTIPLE TYPES (OMIM:175900)
Gene: MVK
Phenotype: Normocytic hypoplastic anemia (HP:0004819)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Acrocyanosis (HP:0001063)
Associated disease: Partial mevalonate kinase deficiency; HIDS; Hyper-IgD syndrome; Hyperimmunoglobulinemia D with periodic fever; Hyperimmunoglobinemia D with recurrent fever; Hyperimmunoglobulinemia D syndrome (ORPHA:343)
Gene: MVK
Phenotype: Parakeratosis (HP:0001036)
Associated disease: POROKERATOSIS 3, MULTIPLE TYPES (OMIM:175900)
Gene: MVK
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: HYPER-IgD SYNDROME (OMIM:260920)
Gene: MVK
Phenotype: Agenesis of cerebellar vermis (HP:0002335)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Urticaria (HP:0001025)
Associated disease: Partial mevalonate kinase deficiency; HIDS; Hyper-IgD syndrome; Hyperimmunoglobulinemia D with periodic fever; Hyperimmunoglobinemia D with recurrent fever; Hyperimmunoglobulinemia D syndrome (ORPHA:343)
Gene: MVK
Phenotype: Vertigo (HP:0002321)
Associated disease: HYPER-IgD SYNDROME (OMIM:260920)
Gene: MVK
Phenotype: Headache (HP:0002315)
Associated disease: HYPER-IgD SYNDROME (OMIM:260920)
Gene: MVK
Phenotype: Papule (HP:0200034)
Associated disease: Partial mevalonate kinase deficiency; HIDS; Hyper-IgD syndrome; Hyperimmunoglobulinemia D with periodic fever; Hyperimmunoglobinemia D with recurrent fever; Hyperimmunoglobulinemia D syndrome (ORPHA:343)
Gene: MVK
Phenotype: Porokeratosis (HP:0200044)
Associated disease: POROKERATOSIS 3, MULTIPLE TYPES (OMIM:175900)
Gene: MVK
Phenotype: Porokeratosis (HP:0200044)
Associated disease: Disseminated superficial actinic porokeratosis (ORPHA:79152)
Gene: MVK
Phenotype: Porokeratosis (HP:0200044)
Associated disease: Porokeratosis of Mibelli (ORPHA:735)
Gene: MVK
Phenotype: Erythema (HP:0010783)
Associated disease: Partial mevalonate kinase deficiency; HIDS; Hyper-IgD syndrome; Hyperimmunoglobulinemia D with periodic fever; Hyperimmunoglobinemia D with recurrent fever; Hyperimmunoglobulinemia D syndrome (ORPHA:343)
Gene: MVK
Phenotype: Molluscum contagiosum (HP:0032163)
Associated disease: HYPER-IgD SYNDROME (OMIM:260920)
Gene: MVK
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MVK
Phenotype: Juvenile onset (HP:0003621)
Associated disease: POROKERATOSIS 3, MULTIPLE TYPES (OMIM:175900)
Gene: MVK
Phenotype: Chronic oral candidiasis (HP:0009098)
Associated disease: HYPER-IgD SYNDROME (OMIM:260920)
Gene: MVK
Phenotype: Nystagmus (HP:0000639)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: HYPER-IgD SYNDROME (OMIM:260920)
Gene: MVK
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Recurrent fever (HP:0001954)
Associated disease: HYPER-IgD SYNDROME (OMIM:260920)
Gene: MVK
Phenotype: Recurrent fever (HP:0001954)
Associated disease: Partial mevalonate kinase deficiency; HIDS; Hyper-IgD syndrome; Hyperimmunoglobulinemia D with periodic fever; Hyperimmunoglobinemia D with recurrent fever; Hyperimmunoglobulinemia D syndrome (ORPHA:343)
Gene: MVK
Phenotype: Anemia (HP:0001903)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Nyctalopia (HP:0000662)
Associated disease: HYPER-IgD SYNDROME (OMIM:260920)
Gene: MVK
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MVK
Phenotype: Short stature (HP:0004322)
Associated disease: Complete mevalonate kinase deficiency; MVA; Mevalonic aciduria (ORPHA:29)
Gene: MVK
Phenotype: Short stature (HP:0004322)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Nuclear cataract (HP:0100018)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MVK
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MVK
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Serositis (HP:0045073)
Associated disease: HYPER-IgD SYNDROME (OMIM:260920)
Gene: MVK
Phenotype: Increased circulating IgA concentration (HP:0003261)
Associated disease: HYPER-IgD SYNDROME (OMIM:260920)
Gene: MVK
Phenotype: Increased circulating IgA concentration (HP:0003261)
Associated disease: Partial mevalonate kinase deficiency; HIDS; Hyper-IgD syndrome; Hyperimmunoglobulinemia D with periodic fever; Hyperimmunoglobinemia D with recurrent fever; Hyperimmunoglobulinemia D syndrome (ORPHA:343)
Gene: MVK
Phenotype: Purpura (HP:0000979)
Associated disease: Partial mevalonate kinase deficiency; HIDS; Hyper-IgD syndrome; Hyperimmunoglobulinemia D with periodic fever; Hyperimmunoglobinemia D with recurrent fever; Hyperimmunoglobulinemia D syndrome (ORPHA:343)
Gene: MVK
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Porokeratosis of Mibelli (ORPHA:735)
Gene: MVK
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Disseminated superficial actinic porokeratosis (ORPHA:79152)
Gene: MVK
Phenotype: Pruritus (HP:0000989)
Associated disease: Porokeratosis of Mibelli (ORPHA:735)
Gene: MVK
Phenotype: Pruritus (HP:0000989)
Associated disease: Disseminated superficial actinic porokeratosis (ORPHA:79152)
Gene: MVK
Phenotype: Skin rash (HP:0000988)
Associated disease: HYPER-IgD SYNDROME (OMIM:260920)
Gene: MVK
Phenotype: Skin rash (HP:0000988)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Edema (HP:0000969)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Porokeratosis of Mibelli (ORPHA:735)
Gene: MVK
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: Porokeratosis of Mibelli (ORPHA:735)
Gene: MVK
Phenotype: Morbilliform rash (HP:0012282)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Complete mevalonate kinase deficiency; MVA; Mevalonic aciduria (ORPHA:29)
Gene: MVK
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MVK
Phenotype: Arthralgia (HP:0002829)
Associated disease: HYPER-IgD SYNDROME (OMIM:260920)
Gene: MVK
Phenotype: Arthralgia (HP:0002829)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Arthralgia (HP:0002829)
Associated disease: Partial mevalonate kinase deficiency; HIDS; Hyper-IgD syndrome; Hyperimmunoglobulinemia D with periodic fever; Hyperimmunoglobinemia D with recurrent fever; Hyperimmunoglobulinemia D syndrome (ORPHA:343)
Gene: MVK
Phenotype: Elevated urine mevalonic acid level (HP:0032638)
Associated disease: HYPER-IgD SYNDROME (OMIM:260920)
Gene: MVK
Phenotype: Elevated urine mevalonic acid level (HP:0032638)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Complete mevalonate kinase deficiency; MVA; Mevalonic aciduria (ORPHA:29)
Gene: MVK
Phenotype: Large fontanelles (HP:0000239)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Microcephaly (HP:0000252)
Associated disease: Complete mevalonate kinase deficiency; MVA; Mevalonic aciduria (ORPHA:29)
Gene: MVK
Phenotype: Microcephaly (HP:0000252)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: Disseminated superficial actinic porokeratosis (ORPHA:79152)
Gene: MVK
Phenotype: Lymphadenitis (HP:0002840)
Associated disease: HYPER-IgD SYNDROME (OMIM:260920)
Gene: MVK
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Growth delay (HP:0001510)
Associated disease: Partial mevalonate kinase deficiency; HIDS; Hyper-IgD syndrome; Hyperimmunoglobulinemia D with periodic fever; Hyperimmunoglobinemia D with recurrent fever; Hyperimmunoglobulinemia D syndrome (ORPHA:343)
Gene: MVK
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MVK
Phenotype: Fluctuating hepatomegaly (HP:0006564)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: Partial mevalonate kinase deficiency; HIDS; Hyper-IgD syndrome; Hyperimmunoglobulinemia D with periodic fever; Hyperimmunoglobinemia D with recurrent fever; Hyperimmunoglobulinemia D syndrome (ORPHA:343)
Gene: MVK
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Complete mevalonate kinase deficiency; MVA; Mevalonic aciduria (ORPHA:29)
Gene: MVK
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Low-set ears (HP:0000369)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Triangular face (HP:0000325)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Triangular face (HP:0000325)
Associated disease: Complete mevalonate kinase deficiency; MVA; Mevalonic aciduria (ORPHA:29)
Gene: MVK
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Complete mevalonate kinase deficiency; MVA; Mevalonic aciduria (ORPHA:29)
Gene: MVK
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Recurrent aphthous stomatitis (HP:0011107)
Associated disease: Partial mevalonate kinase deficiency; HIDS; Hyper-IgD syndrome; Hyperimmunoglobulinemia D with periodic fever; Hyperimmunoglobinemia D with recurrent fever; Hyperimmunoglobulinemia D syndrome (ORPHA:343)
Gene: MVK
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Complete mevalonate kinase deficiency; MVA; Mevalonic aciduria (ORPHA:29)
Gene: MVK
Phenotype: Splenomegaly (HP:0001744)
Associated disease: HYPER-IgD SYNDROME (OMIM:260920)
Gene: MVK
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Renal angiomyolipoma (HP:0006772)
Associated disease: HYPER-IgD SYNDROME (OMIM:260920)
Gene: MVK
Phenotype: Cataract (HP:0000518)
Associated disease: Complete mevalonate kinase deficiency; MVA; Mevalonic aciduria (ORPHA:29)
Gene: MVK
Phenotype: Cataract (HP:0000518)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: HYPER-IgD SYNDROME (OMIM:260920)
Gene: MVK
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MVK
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MVK
Phenotype: Blue sclerae (HP:0000592)
Associated disease: Complete mevalonate kinase deficiency; MVA; Mevalonic aciduria (ORPHA:29)
Gene: MVK
Phenotype: Blue sclerae (HP:0000592)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: HYPER-IgD SYNDROME (OMIM:260920)
Gene: MVK
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MVK
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MXI1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PROSTATE CANCER (OMIM:176807)
Gene: MXI1
Phenotype: Prostate cancer (HP:0012125)
Associated disease: PROSTATE CANCER (OMIM:176807)
Gene: MXI1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: PROSTATE CANCER (OMIM:176807)
Gene: MYBPC1
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: MYBPC1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: MYOPATHY, CONGENITAL, WITH TREMOR (OMIM:618524)
Gene: MYBPC1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MYOPATHY, CONGENITAL, WITH TREMOR (OMIM:618524)
Gene: MYBPC1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MYOPATHY, CONGENITAL, WITH TREMOR (OMIM:618524)
Gene: MYBPC1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 4 (OMIM:614915)
Gene: MYBPC1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: MYBPC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 4 (OMIM:614915)
Gene: MYBPC1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1B (OMIM:614335)
Gene: MYBPC1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOPATHY, CONGENITAL, WITH TREMOR (OMIM:618524)
Gene: MYBPC1
Phenotype: Scoliosis (HP:0002650)
Associated disease: MYOPATHY, CONGENITAL, WITH TREMOR (OMIM:618524)
Gene: MYBPC1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: MYOPATHY, CONGENITAL, WITH TREMOR (OMIM:618524)
Gene: MYBPC1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: MYBPC1
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: MYOPATHY, CONGENITAL, WITH TREMOR (OMIM:618524)
Gene: MYBPC1
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: MYOPATHY, CONGENITAL, WITH TREMOR (OMIM:618524)
Gene: MYBPC1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 4 (OMIM:614915)
Gene: MYBPC1
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: MYBPC1
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1B (OMIM:614335)
Gene: MYBPC1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: MYOPATHY, CONGENITAL, WITH TREMOR (OMIM:618524)
Gene: MYBPC1
Phenotype: Postural tremor (HP:0002174)
Associated disease: MYOPATHY, CONGENITAL, WITH TREMOR (OMIM:618524)
Gene: MYBPC1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: MYBPC1
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: MYBPC1
Phenotype: Congenital onset (HP:0003577)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 4 (OMIM:614915)
Gene: MYBPC1
Phenotype: Foot joint contracture (HP:0008366)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1B (OMIM:614335)
Gene: MYBPC1
Phenotype: Scapular winging (HP:0003691)
Associated disease: MYOPATHY, CONGENITAL, WITH TREMOR (OMIM:618524)
Gene: MYBPC1
Phenotype: Tongue tremor (HP:0031947)
Associated disease: MYOPATHY, CONGENITAL, WITH TREMOR (OMIM:618524)
Gene: MYBPC1
Phenotype: Distal arthrogryposis (HP:0005684)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1B (OMIM:614335)
Gene: MYBPC1
Phenotype: Distal arthrogryposis (HP:0005684)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 4 (OMIM:614915)
Gene: MYBPC1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 4 (OMIM:614915)
Gene: MYBPC1
Phenotype: Abnormal hip bone morphology (HP:0003272)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: MYBPC1
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 4 (OMIM:614915)
Gene: MYBPC1
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1B (OMIM:614335)
Gene: MYBPC1
Phenotype: High palate (HP:0000218)
Associated disease: MYOPATHY, CONGENITAL, WITH TREMOR (OMIM:618524)
Gene: MYBPC1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1B (OMIM:614335)
Gene: MYBPC1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: MYOPATHY, CONGENITAL, WITH TREMOR (OMIM:618524)
Gene: MYBPC1
Phenotype: Micrognathia (HP:0000347)
Associated disease: MYOPATHY, CONGENITAL, WITH TREMOR (OMIM:618524)
Gene: MYBPC1
Phenotype: Prominent nasolabial fold (HP:0005272)
Associated disease: MYOPATHY, CONGENITAL, WITH TREMOR (OMIM:618524)
Gene: MYBPC1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1B (OMIM:614335)
Gene: MYBPC1
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: MYBPC1
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1B (OMIM:614335)
Gene: MYBPC1
Phenotype: Talipes (HP:0001883)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: MYBPC3
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)