| RMRP |
250250 |
Neoplasms |
risk for malignancies
|
oncologic |
#7897625 #7981754 #8444246 #10064668 #11207361 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 |
Glandular-and-epithelial-neoplasms |
|
oncologic |
#10064668 |
| RMRP |
250250 |
Basal-cell-carcinoma |
basal cell carcinoma of the skin
|
oncologic |
10064668 |
| RMRP |
250250 |
Squamous-cell-neoplasms |
squamous cell carcinoma of the vocal cords
|
oncologic |
10064668 |
| 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 |
Melanoma |
skin neoplasm
|
oncologic |
7897625 7981754 |
| 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 |
250460 |
Musculoskeletal-diseases |
mild platyspondyly; harrisons groves; flaring of lower rib cage; short hands; brachydactyly; leg bowing; cone shaped epiphyses
|
musculoskeletal |
11940090 |
| 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 |
250250 |
Bone-diseases |
|
musculoskeletal |
#7897625 #7981754 #8444246 #11035826 #11043437 #11370774 #12888988 #14284412 #14569125 #14608646 |
| RMRP |
250460 |
Bone-diseases |
|
musculoskeletal |
#11940090 |
| RMRP |
607095 |
Bone-diseases |
|
musculoskeletal |
#8723091 #11370632 #16252239 |
| RMRP |
250250 |
Osteochondrodysplasias |
chondrodysplasia; metaphyseal chondrodysplasia; skeletal dysplasia; metaphyseal abnormalities
|
musculoskeletal |
7897625 7981754 8444246 11035826 11043437 11370774 12888988 14284412 14569125 |
| RMRP |
250460 |
Osteochondrodysplasias |
chondrodysplasia; metaphyseal chondrodysplasia
|
musculoskeletal |
11940090 |
| RMRP |
607095 |
Osteochondrodysplasias |
chondrodysplasia; spondylo meta epiphyseal dysplasia; abnormalities of the metaphyses epiphyses and vertebral bodies
|
musculoskeletal |
8723091 11370632 |
| RMRP |
250250 |
Spinal-diseases |
lumbar lordosis; scoliosis; lower back pain
|
musculoskeletal |
8444246 14569125 14608646 |
| RMRP |
250460 |
Spinal-diseases |
lumbar lordosis
|
musculoskeletal |
11940090 |
| RMRP |
607095 |
Spinal-diseases |
hyperlordosis; kyphosis
|
musculoskeletal |
8723091 11370632 16252239 |
| RMRP |
250250 |
Joint-diseases |
|
musculoskeletal |
#7897625 #7981754 #8444246 #10064668 #11035826 #11207361 #12888988 #14284412 |
| RMRP |
250460 |
Joint-diseases |
|
musculoskeletal |
#11940090 |
| RMRP |
607095 |
Joint-diseases |
|
musculoskeletal |
#8723091 #11370632 |
| 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 |
250460 |
Joint-instability |
hyperextensibility; finger; hands
|
musculoskeletal |
11940090 |
| RMRP |
607095 |
Joint-instability |
joint hypermobility; subluxations; laxity; limited extension of the elbows but marked laxity of the other joints
|
musculoskeletal |
11370632 |
| RMRP |
250250 |
Joint-limitations |
limited elbow extension
|
musculoskeletal |
7897625 8444246 12888988 14284412 |
| 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 |
250250 |
Digestive-system-diseases |
|
gastrointestinal |
#7897625 #7981754 #8444246 #11035826 #11043437 #11207361 #12888988 #14284412 #14569125 #14608646 |
| RMRP |
250250 |
Digestive-system-abnormalities |
hirschsprung disease; aganglionic congenital megacolon; obstruction; oesophageal atresia
|
gastrointestinal |
7981754 8444246 11035826 11207361 12888988 14284412 14569125 14608646 |
| RMRP |
250250 |
Gastrointestinal-diseases |
"malabsorption; low serum vitamins(A,E)"
|
gastrointestinal |
#7897625 #11035826 #11043437 12888988 14284412 14569125 |
| RMRP |
250250 |
Esophageal-varices |
gastrointestinal bleeding; portal hypertension; esophagogastric varices
|
gastrointestinal |
11043437 |
| RMRP |
250250 |
Gastroenteritis |
enterocolitis
|
gastrointestinal |
7897625 11035826 |
| RMRP |
250250 |
Intestinal-obstruction |
constipation; mild constipation
|
gastrointestinal |
14569125 |
| RMRP |
250250 |
Liver-diseases |
|
gastrointestinal |
#14569125 |
| RMRP |
250250 |
Hepatomegaly |
|
gastrointestinal |
14569125 |
| RMRP |
250250 |
Diarrhea |
infection related
|
gastrointestinal |
7897625 11035826 14569125 |
| RMRP |
250250 |
Respiratory-tract-diseases |
|
respiratory |
#11035826 #12888988 #14284412 #14569125 |
| RMRP |
607095 |
Respiratory-tract-diseases |
|
respiratory |
#11370632 #16252239 |
| RMRP |
250250 |
Bronchial-diseases |
|
respiratory |
#11035826 |
| RMRP |
250250 |
Asthma |
|
respiratory |
11035826 |
| RMRP |
250250 |
Lung-diseases |
|
respiratory |
#11035826 #12888988 #14284412 |
| RMRP |
607095 |
Lung-diseases |
|
respiratory |
#16252239 |
| RMRP |
250250 |
Pneumonia |
recurrent pneumonias; bronchiectasias; varicella pneumonia
|
respiratory |
11035826 12888988 14284412 |
| RMRP |
607095 |
Pneumonia |
recurrent pneumonias; due to progressive thoracic deformity
|
respiratory |
16252239 |
| RMRP |
250250 |
Respiration-disorders |
|
respiratory |
#14569125 |
| RMRP |
607095 |
Respiration-disorders |
|
respiratory |
#11370632 #16252239 |
| RMRP |
250250 |
Hyperventilation |
tachypnea; tachypnoeic
|
respiratory |
14569125 |
| RMRP |
607095 |
Respiratory-insufficiency |
respiratory insufficiency spontaneously occurred; lethal respiratory insufficiency
|
respiratory |
11370632 16252239 |
| RMRP |
250250 |
Nervous-system-diseases |
|
neurologic |
#14569125 |
| RMRP |
607095 |
Nervous-system-diseases |
|
neurologic |
#8723091 #11370632 #16252239 |
| RMRP |
607095 |
Neurologic-manifestations |
|
neurologic |
#8723091 #11370632 #16252239 |
| RMRP |
607095 |
Neurobehavioral-manifestations |
|
neurologic |
#8723091 #16252239 |
| RMRP |
607095 |
Mental-retardation |
mild
|
neurologic |
8723091 16252239 |
| RMRP |
250250 |
Developmental-delay |
dystrophic
|
neurologic |
14569125 |
| RMRP |
607095 |
Developmental-delay |
psychomotor retardation
|
neurologic |
11370632 |
| RMRP |
607095 |
Neuromuscular-manifestations |
|
neurologic |
#11370632 |
| RMRP |
607095 |
Muscle-hypotonia |
|
neurologic |
11370632 |
| RMRP |
607095 |
Paralysis-Paresis |
quadriplegia spontaneously occurred; quadriplegia
|
neurologic |
11370632 |
| RMRP |
250250 |
Genitourinary-diseases |
|
genitourinary |
#11370774 #12888988 #14284412 |
| RMRP |
250250 |
Male-genital-diseases |
|
genitourinary |
#11370774 #12888988 #14284412 |
| RMRP |
250250 |
Infertility-male |
male infertility; spermatogenesis impaired; low sperm concentration; decreased motility; sperm morphological changes
|
genitourinary |
11370774 12888988 14284412 |
| RMRP |
607095 |
Cardiovascular-diseases |
|
cardiovascular |
#11370632 |
| RMRP |
607095 |
Heart-diseases |
|
cardiovascular |
#11370632 |
| RMRP |
607095 |
Heart-valve-diseases |
aortic stenosis
|
cardiovascular |
11370632 |
| RMRP |
607095 |
Vascular-diseases |
|
cardiovascular |
#11370632 |
| RMRP |
607095 |
Myocardial-ischemia |
myocardial infarction; cardiac arrest
|
cardiovascular |
11370632 |
| RMRP |
250250 |
Hematologic-diseases |
|
hematologic |
#7897625 #7981754 #8444246 #11035826 #11043437 #11207361 #11370774 #12888988 #14284412 #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 |
Blood-platelet-disorders |
|
hematologic |
#11043437 |
| RMRP |
250250 |
Thrombocytopenia |
|
hematologic |
11043437 |
| RMRP |
250250 |
Blood-protein-disorders |
|
hematologic |
#11035826 |
| RMRP |
250250 |
Dysgammaglobulinemia |
IGA deficiency; IGG deficiency; humoral immunity defective; hypogammaglobulinemia
|
hematologic |
11035826 |
| RMRP |
250250 |
Bone-marrow-diseases |
hypocellular; without erythropoiesis; hypoplastic myeloid lineage; hypoplastic bone marrow; deficient erythrogenesis; erythrocyte macrocytosis
|
hematologic |
7981754 11370774 14569125 |
| RMRP |
250250 |
Leukocyte-disorders |
|
hematologic |
#7897625 #7981754 #11035826 #12888988 #14284412 |
| RMRP |
250250 |
Leukopenia |
neutropenia
|
hematologic |
#7897625 #7981754 #11035826 12888988 14284412 |
| RMRP |
250250 |
Lymphopenia |
|
hematologic |
7897625 7981754 11035826 12888988 14284412 |
| RMRP |
250250 |
Skin-diseases |
|
dermatologic |
#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 |
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 |
Pigmentation-disorders |
|
dermatologic |
#14569125 |
| RMRP |
250250 |
Cafe-au-lait-spots |
|
dermatologic |
14569125 |
| RMRP |
250250 |
Paleness |
pale
|
dermatologic |
14569125 |
| RMRP |
250250 |
Metabolic-diseases |
|
metabolic |
#14569125 |
| RMRP |
250250 |
Water-electrolyte-imbalance |
|
metabolic |
#14569125 |
| RMRP |
250250 |
Dehydration |
|
metabolic |
14569125 |
| RMRP |
250250 |
Immune-system-diseases |
|
immunologic |
#7897625 #7981754 #8444246 #10064668 #11035826 #11207361 #11370774 #12888988 #14284412 #14569125 |
| RMRP |
250460 |
Immune-system-diseases |
|
immunologic |
#11940090 |
| RMRP |
607095 |
Immune-system-diseases |
|
immunologic |
#11370632 |
| 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 |
Infections |
chickenpox susceptibility; varicella infections; otitis media; sinusitis; respiratory tract infections
|
immunologic |
7897625 8444246 10064668 11035826 14569125 |
| RMRP |
250460 |
Infections |
chickenpox susceptibility
|
immunologic |
11940090 |
| RMRP |
607095 |
Infections |
signs of infection resulting in aortic stenosis
|
immunologic |
11370632 |
| RMRP |
250460 |
Body-temperature-changes |
|
miscellaneous |
#11940090 |
| RMRP |
250460 |
Fever |
|
miscellaneous |
11940090 |
| RMRP |
250250 |
Splenomegaly |
hypersplenism
|
miscellaneous |
11043437 |
| RMRP |
250250 |
Growth-disorders |
|
miscellaneous |
#7897625 #7981754 #8444246 #10064668 #11035826 #11207361 #11370774 #12888988 #14284412 #14569125 #14608646 |
| RMRP |
250460 |
Growth-disorders |
|
miscellaneous |
#11940090 |
| RMRP |
607095 |
Growth-disorders |
|
miscellaneous |
#8723091 #11370632 #16252239 |
| RMRP |
250250 |
Failure-to-thrive |
|
miscellaneous |
7897625 |
| 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 |
250460 |
Growth-deficiency |
|
miscellaneous |
11940090 |
| RMRP |
607095 |
Growth-deficiency |
short stature; severly; disproportionate
|
miscellaneous |
8723091 11370632 16252239 |
| RMRP |
607095 |
Tooth-abnormalities |
hypodontia
|
miscellaneous |
8723091 11370632 |
