Mitochondria Phenome Knowledgebase

Gene Symbol RMRP
Ensembl ID ENSG00000199916 Entrez 6023
Gene Alias CHH; RMRPR Subcellular Locations Mitochondria Mitochondrial-matrix Nucleus
Map Position 9p21-p12 Subcell PMIDs 3582365
OMIM Gene 157660 Protein Complex
Swissprot ID M29916 Swissprot Description Human mitochondrial RNA-processing endoribonuclease RNA (mrp) gene
OMIM Disease Cartilage hair hypoplasia (CHH) [250250]; Metaphyseal dysplasia without hypotrichosis (CHHV) [250460]; Anauxetic dysplasia [607095]

77 Gene-Feature associations for Gene RMRP

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
RMRP 250250 Melanoma skin neoplasm oncologic 7897625 7981754
RMRP 250250 Metabolic-diseases metabolic #14569125
RMRP 250250 Musculoskeletal-diseases narrowing of interpediculate distances; flaring of lower rib cage; small pelvic inlet; shortened limbs; leg bowing; metaphyseal dysplasia; metaphyseal flaring; tibia shorter than fibula; short hands; brachycephaly; brachydactyly; genu varus; chest deformity; cartilage hypoplasia musculoskeletal #7897625 #7981754 8444246 10064668 11035826 #11043437 #11207361 #11370774 12888988 14284412 14569125 14608646
RMRP 250250 Neoplasms risk for malignancies oncologic #7897625 #7981754 #8444246 #10064668 #11207361 12888988 14284412
RMRP 250250 Nervous-system-diseases neurologic #14569125
RMRP 250250 Neuroectodermal-tumors melanotic progonoma; melanotic progonoma of the testicle; retinoblastic teratoma; testicular progonoma; progonoma oncologic #7897625 #7981754 10064668
RMRP 250250 Neuroendocrine-tumors oncologic #7897625 #7981754
RMRP 250250 Osteochondrodysplasias chondrodysplasia; metaphyseal chondrodysplasia; skeletal dysplasia; metaphyseal abnormalities musculoskeletal 7897625 7981754 8444246 11035826 11043437 11370774 12888988 14284412 14569125
RMRP 250250 Paleness pale dermatologic 14569125
RMRP 250250 Pigmentation-disorders dermatologic #14569125
RMRP 250250 Pneumonia recurrent pneumonias; bronchiectasias; varicella pneumonia respiratory 11035826 12888988 14284412
RMRP 250250 Respiration-disorders respiratory #14569125
RMRP 250250 Respiratory-tract-diseases respiratory #11035826 #12888988 #14284412 #14569125
RMRP 250250 Skin-diseases dermatologic #7981754 #8444246 #10064668 #11035826 #11207361 #11370774 #12888988 #14284412 #14569125 #14608646
RMRP 250250 Spinal-diseases lumbar lordosis; scoliosis; lower back pain musculoskeletal 8444246 14569125 14608646
RMRP 250250 Splenomegaly hypersplenism miscellaneous 11043437
RMRP 250250 Squamous-cell-neoplasms squamous cell carcinoma of the vocal cords oncologic 10064668
RMRP 250250 Thrombocytopenia hematologic 11043437
RMRP 250250 Water-electrolyte-imbalance metabolic #14569125
RMRP 250250 Anemia macrocytic anemia; congenital; hypoplastic anemia; aplastic anemia; Diamond Blackfan type hypoplastic anaemia hematologic 7981754 8444246 11035826 11207361 12888988 14284412 14569125
RMRP 250250 Asthma respiratory 11035826
RMRP 250250 Basal-cell-carcinoma basal cell carcinoma of the skin oncologic 10064668
RMRP 250250 Blood-platelet-disorders hematologic #11043437
RMRP 250250 Blood-protein-disorders hematologic #11035826
RMRP 250250 Bone-diseases musculoskeletal #7897625 #7981754 #8444246 #11035826 #11043437 #11370774 #12888988 #14284412 #14569125 #14608646
RMRP 250250 Bone-marrow-diseases hypocellular; without erythropoiesis; hypoplastic myeloid lineage; hypoplastic bone marrow; deficient erythrogenesis; erythrocyte macrocytosis hematologic 7981754 11370774 14569125
RMRP 250250 Bronchial-diseases respiratory #11035826
RMRP 250250 Cafe-au-lait-spots dermatologic 14569125
RMRP 250250 Dehydration metabolic 14569125
RMRP 250250 Developmental-delay dystrophic neurologic 14569125
RMRP 250250 Diarrhea infection related gastrointestinal 7897625 11035826 14569125
RMRP 250250 Digestive-system-abnormalities hirschsprung disease; aganglionic congenital megacolon; obstruction; oesophageal atresia gastrointestinal 7981754 8444246 11035826 11207361 12888988 14284412 14569125 14608646
RMRP 250250 Digestive-system-diseases gastrointestinal #7897625 #7981754 #8444246 #11035826 #11043437 #11207361 #12888988 #14284412 #14569125 #14608646
RMRP 250250 Dysgammaglobulinemia IGA deficiency; IGG deficiency; humoral immunity defective; hypogammaglobulinemia hematologic 11035826
RMRP 250250 Esophageal-varices gastrointestinal bleeding; portal hypertension; esophagogastric varices gastrointestinal 11043437
RMRP 250250 Failure-to-thrive miscellaneous 7897625
RMRP 250250 Gastroenteritis enterocolitis gastrointestinal 7897625 11035826
RMRP 250250 Gastrointestinal-diseases "malabsorption; low serum vitamins(A,E)" gastrointestinal #7897625 #11035826 #11043437 12888988 14284412 14569125
RMRP 250250 Genitourinary-diseases genitourinary #11370774 #12888988 #14284412
RMRP 250250 Glandular-and-epithelial-neoplasms oncologic #10064668
RMRP 250250 Growth-deficiency short stature; average adult height 107 143cm; weak or absent pubertal growth spurt; short limb dwarfism; identifiable neonatally; dysproportionate short stature; short limbed short stature miscellaneous 7981754 8444246 10064668 11035826 11207361 11370774 12888988 14284412 14569125 14608646
RMRP 250250 Growth-disorders miscellaneous #7897625 #7981754 #8444246 #10064668 #11035826 #11207361 #11370774 #12888988 #14284412 #14569125 #14608646
RMRP 250250 Hair-diseases dermatologic #7981754 #8444246 #10064668 #11035826 #11207361 #11370774 #12888988 #14284412 #14608646
RMRP 250250 Hematologic-diseases hematologic #7897625 #7981754 #8444246 #11035826 #11043437 #11207361 #11370774 #12888988 #14284412 #14569125
RMRP 250250 Hepatomegaly gastrointestinal 14569125
RMRP 250250 Hyperventilation tachypnea; tachypnoeic respiratory 14569125
RMRP 250250 Hypotrichosis fine hair; sparse hair; light colored; sparse eyebrows; sparse eyelashes; sparse beard; coarse hair; hair abnormalities; hair hypoplasia dermatologic 7981754 8444246 10064668 11035826 11207361 11370774 12888988 14284412 14608646
RMRP 250250 Immune-deficiency defective immunity; immunodeficiency; immunity impaired; hypersensitivity delayed; chickenpox susceptibility; abnormal cellular immunity immunologic 7981754 8444246 10064668 11035826 11207361 11370774 12888988 14284412 14569125
RMRP 250250 Immune-system-diseases immunologic #7897625 #7981754 #8444246 #10064668 #11035826 #11207361 #11370774 #12888988 #14284412 #14569125
RMRP 250250 Infections chickenpox susceptibility; varicella infections; otitis media; sinusitis; respiratory tract infections immunologic 7897625 8444246 10064668 11035826 14569125
RMRP 250250 Infertility-male male infertility; spermatogenesis impaired; low sperm concentration; decreased motility; sperm morphological changes genitourinary 11370774 12888988 14284412
RMRP 250250 Intestinal-obstruction constipation; mild constipation gastrointestinal 14569125
RMRP 250250 Joint-diseases musculoskeletal #7897625 #7981754 #8444246 #10064668 #11035826 #11207361 #12888988 #14284412
RMRP 250250 Joint-instability joint hypermobility; hyperextensibility; hands; wrist; feet; loose jointed fingers; joint laxity; laxity of joint ligaments musculoskeletal 7897625 7981754 8444246 10064668 11035826 11207361 12888988 14284412
RMRP 250250 Joint-limitations limited elbow extension musculoskeletal 7897625 8444246 12888988 14284412
RMRP 250250 Leukemia-Lymphoma malignancy risk; lymphoma; lymphosarkoma; multiple tumors in pleura and bone; non hodgkins lymphoma; hodgkins disease oncologic 7981754 8444246 10064668 11207361
RMRP 250250 Leukocyte-disorders hematologic #7897625 #7981754 #11035826 #12888988 #14284412
RMRP 250250 Leukopenia neutropenia hematologic #7897625 #7981754 #11035826 12888988 14284412
RMRP 250250 Liver-diseases gastrointestinal #14569125
RMRP 250250 Lung-diseases respiratory #11035826 #12888988 #14284412
RMRP 250250 Lymphopenia hematologic 7897625 7981754 11035826 12888988 14284412
RMRP 250250 Male-genital-diseases genitourinary #11370774 #12888988 #14284412
RMRP 250460 Body-temperature-changes miscellaneous #11940090
RMRP 250460 Bone-diseases musculoskeletal #11940090
RMRP 250460 Fever miscellaneous 11940090
RMRP 250460 Growth-deficiency miscellaneous 11940090
RMRP 250460 Growth-disorders miscellaneous #11940090
RMRP 250460 Immune-system-diseases immunologic #11940090
RMRP 250460 Infections chickenpox susceptibility immunologic 11940090
RMRP 250460 Joint-diseases musculoskeletal #11940090
RMRP 250460 Joint-instability hyperextensibility; finger; hands musculoskeletal 11940090
RMRP 250460 Musculoskeletal-diseases mild platyspondyly; harrisons groves; flaring of lower rib cage; short hands; brachydactyly; leg bowing; cone shaped epiphyses musculoskeletal 11940090
RMRP 250460 Osteochondrodysplasias chondrodysplasia; metaphyseal chondrodysplasia musculoskeletal 11940090
RMRP 250460 Spinal-diseases lumbar lordosis musculoskeletal 11940090
RMRP 607095 Bone-diseases musculoskeletal #8723091 #11370632 #16252239
RMRP 607095 Cardiovascular-diseases cardiovascular #11370632
RMRP 607095 Developmental-delay psychomotor retardation neurologic 11370632
RMRP 607095 Growth-deficiency short stature; severly; disproportionate miscellaneous 8723091 11370632 16252239
RMRP 607095 Growth-disorders miscellaneous #8723091 #11370632 #16252239
RMRP 607095 Heart-diseases cardiovascular #11370632
RMRP 607095 Heart-valve-diseases aortic stenosis cardiovascular 11370632
RMRP 607095 Immune-system-diseases immunologic #11370632
RMRP 607095 Infections signs of infection resulting in aortic stenosis immunologic 11370632
RMRP 607095 Joint-diseases musculoskeletal #8723091 #11370632
RMRP 607095 Joint-instability joint hypermobility; subluxations; laxity; limited extension of the elbows but marked laxity of the other joints musculoskeletal 11370632
RMRP 607095 Joint-limitations limited elbow extension; limited extension of the elbows but marked laxity of the other joints; elbow flexion contractures musculoskeletal 8723091 11370632
RMRP 607095 Lung-diseases respiratory #16252239
RMRP 607095 Mental-retardation mild neurologic 8723091 16252239
RMRP 607095 Muscle-hypotonia neurologic 11370632
RMRP 607095 Musculoskeletal-diseases hypertelorism; eyes; J shaped sella; platyspondyly; rhizomelic shortening; metaphyseal flaring; small epiphyses; brachydactyly; delayed carpal bone age; cervical cord compression musculoskeletal 8723091 11370632 16252239
RMRP 607095 Myocardial-ischemia myocardial infarction; cardiac arrest cardiovascular 11370632
RMRP 607095 Nervous-system-diseases neurologic #8723091 #11370632 #16252239
RMRP 607095 Neurobehavioral-manifestations neurologic #8723091 #16252239
RMRP 607095 Neurologic-manifestations neurologic #8723091 #11370632 #16252239
RMRP 607095 Neuromuscular-manifestations neurologic #11370632
RMRP 607095 Osteochondrodysplasias chondrodysplasia; spondylo meta epiphyseal dysplasia; abnormalities of the metaphyses epiphyses and vertebral bodies musculoskeletal 8723091 11370632
RMRP 607095 Paralysis-Paresis quadriplegia spontaneously occurred; quadriplegia neurologic 11370632
RMRP 607095 Pneumonia recurrent pneumonias; due to progressive thoracic deformity respiratory 16252239
RMRP 607095 Respiration-disorders respiratory #11370632 #16252239
RMRP 607095 Respiratory-insufficiency respiratory insufficiency spontaneously occurred; lethal respiratory insufficiency respiratory 11370632 16252239
RMRP 607095 Respiratory-tract-diseases respiratory #11370632 #16252239
RMRP 607095 Spinal-diseases hyperlordosis; kyphosis musculoskeletal 8723091 11370632 16252239
RMRP 607095 Tooth-abnormalities hypodontia miscellaneous 8723091 11370632
RMRP 607095 Vascular-diseases cardiovascular #11370632

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