eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| ellis van creveld syndrome | ||||
| Disease ID | 277 |
|---|---|
| Disease | ellis van creveld syndrome |
| Definition | Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum. (Dorland, 27th ed) |
| Synonym | chondroectoderm dysplas chondroectodermal dysplasia chondroectodermal dysplasia (disorder) chondroectodermal dysplasias creveld ellis-van syndrome dysplasia, chondroectodermal dysplasia, ellis-van creveld dysplasia, mesoectodermal ellis van creveld dysplasia ellis-van creveld dysplasia ellis-van creveld syndrome ellis-van creveld syndrome [disease/finding] evc evc - ellis-van creveld syndrome mesoectodermal dysplasia mesoectodermal dysplasias syndrome, ellis-van creveld |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0013903 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0024291 | haemophagocytic lymphohistiocytosis | 1 C0011847 | diabetes | 1 C0011854 | type 1 diabetes | 1 C0015458 | facial hemiatrophy | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:25) 34 | ACADM | 2.57 | DISEASES 54880 | BCOR | 2.007 | DISEASES 633 | BGN | 1.576 | DISEASES 65250 | C5orf42 | 2.815 | DISEASES 78987 | CRELD1 | 3.306 | DISEASES 1400 | CRMP1 | 2.801 | DISEASES 79659 | DYNC2H1 | 4.073 | DISEASES 84455 | EFCAB7 | 4.45 | DISEASES 132884 | EVC2 | 7.089 | DISEASES 2261 | FGFR3 | 1.851 | DISEASES 2331 | FMOD | 2.198 | DISEASES 2737 | GLI3 | 1.313 | DISEASES 23493 | HEY2 | 2.214 | DISEASES 3590 | IL11RA | 3.233 | DISEASES 11127 | KIF3A | 2.591 | DISEASES 4487 | MSX1 | 2.928 | DISEASES 4750 | NEK1 | 3.279 | DISEASES 1482 | NKX2-5 | 1.508 | DISEASES 83695 | RHNO1 | 2.167 | DISEASES 6023 | RMRP | 2.442 | DISEASES 51684 | SUFU | 2.044 | DISEASES 10716 | TBR1 | 2.778 | DISEASES 7021 | TFAP2B | 2.468 | DISEASES 51592 | TRIM33 | 1.565 | DISEASES 57728 | WDR19 | 3.24 | DISEASES |
| Locus | Symbol | Locus(Total Locus:3) |
| Disease ID | 277 |
|---|---|
| Disease | ellis van creveld syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:73) HP:0000028 | Cryptorchidism HP:0001830 | Posterior polydactyly of foot HP:0008921 | Dwarfism, neonatal short-limbed HP:0001651 | Dextrocardia HP:0001629 | Ventricular septal defect HP:0000039 | Epispadias HP:0001654 | Abnormality of the heart valves HP:0000072 | Hydroureter HP:0002164 | Nail dysplasia HP:0003026 | shortened long tubular bones HP:0011565 | Common atrium HP:0000233 | Thin vermilion border HP:0010454 | Acetabular spurs HP:0001696 | Situs inversus totalis HP:0001631 | Atrial septal defect HP:0002644 | Abnormality of pelvic girdle bone morphology HP:0010306 | Short thorax HP:0000047 | Hypospadias HP:0000968 | Ectodermal dysplasia HP:0008678 | Renal hypoplasia/aplasia HP:0008921 | Neonatal short-limb short stature HP:0002983 | Micromelia HP:0002097 | Emphysema HP:0001241 | Capitate-hamate fusion HP:0000486 | Strabismus HP:0001762 | Talipes equinovarus HP:0006035 | Cone-shaped end part of digital bones 2 to 5 HP:0002564 | Malformation of the heart and great vessels HP:0000204 | Cleft upper lip HP:0000190 | Abnormality of oral frenula HP:0000684 | Delayed eruption of teeth HP:0006477 | Defect in alveolar ridge HP:0000069 | Abnormality of the ureter HP:0000164 | Abnormality of the teeth HP:0000668 | Hypodontia HP:0000774 | Narrow chest HP:0000008 | Abnormality of female internal genitalia HP:0000695 | Natal teeth HP:0001511 | Intrauterine growth retardation HP:0001829 | Foot polydactyly HP:0001249 | Mental retardation HP:0001162 | Postaxial polydactyly of fingers HP:0000924 | Abnormality of the skeletal system HP:0001305 | Dandy-Walker cyst HP:0000077 | Abnormality of the kidney HP:0000773 | Rib hypoplasia HP:0000668 | Failure of development of between one and six teeth HP:0000774 | Low chest circumference HP:0001241 | Capitate-hamate fusions HP:0001508 | Failure to thrive HP:0002857 | Genu valgum HP:0000888 | Horizontal ribs HP:0001595 | Abnormality of the hair HP:0001249 | Intellectual disability HP:0001231 | Abnormality of the fingernails HP:0001597 | Abnormality of the nail HP:0001800 | Hypoplastic toenails HP:0011065 | Conical incisor HP:0000691 | Microdontia HP:0006703 | Aplasia/Hypoplasia of the lungs HP:0011362 | Abnormal hair quantity HP:0005048 | Synostosis of carpal bones HP:0005561 | Abnormality of bone marrow cell morphology HP:0002967 | Cubitus valgus HP:0002866 | Hypoplastic iliac alae HP:0002488 | Acute leukemia HP:0002750 | Delayed skeletal maturation HP:0006695 | Atrioventricular canal defect HP:0001161 | Hand polydactyly HP:0011830 | Abnormality of oral mucosa HP:0000768 | Pectus carinatum HP:0001631 | Atria septal defect HP:0009882 | Short distal phalanx of finger |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) |
| Disease ID | 277 |
|---|---|
| Disease | ellis van creveld syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:16) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908424 | NA | 2121 | EVC | umls:C0013903 | CLINVAR | NA | 0.56408156 | NA | EVC | 4 | 5808274 | C | T |
| rs121908425 | NA | 2121 | EVC | umls:C0013903 | CLINVAR | NA | 0.56408156 | NA | EVC | 4 | 5748226 | C | A,T |
| rs121908426 | NA | 2121 | EVC | umls:C0013903 | CLINVAR | NA | 0.56408156 | NA | EVC | 4 | 5745321 | T | C |
| rs137852924 | NA | 132884 | EVC2 | umls:C0013903 | CLINVAR | NA | 0.568163119 | NA | EVC2 | 4 | 5640789 | G | A |
| rs137852925 | NA | 132884 | EVC2 | umls:C0013903 | CLINVAR | NA | 0.568163119 | NA | EVC2 | 4 | 5628590 | G | A |
| rs137852926 | NA | 132884 | EVC2 | umls:C0013903 | CLINVAR | NA | 0.568163119 | NA | EVC2 | 4 | 5681282 | A | C |
| rs137852927 | NA | 132884 | EVC2 | umls:C0013903 | CLINVAR | NA | 0.568163119 | NA | EVC2 | 4 | 5576247 | G | A |
| rs137852928 | NA | 132884 | EVC2 | umls:C0013903 | CLINVAR | NA | 0.568163119 | NA | EVC2 | 4 | 5584832 | G | T,A |
| rs146538906 | NA | 132884 | EVC2 | umls:C0013903 | CLINVAR | NA | 0.568163119 | NA | EVC2 | 4 | 5618531 | G | A |
| rs35953626 | 10700184 | 2121 | EVC | umls:C0013903 | UNIPROT | We have identified a new gene (EVC), encoding a 992-amino-acid protein, that is mutated in individuals with EvC. | 0.56408156 | 2000 | EVC | 4 | 5753797 | G | T,C,A |
| rs35953626 | NA | 2121 | EVC | umls:C0013903 | CLINVAR | NA | 0.56408156 | NA | EVC | 4 | 5753797 | G | T,C,A |
| rs587776619 | NA | 2121 | EVC | umls:C0013903 | CLINVAR | NA | 0.56408156 | NA | EVC | 4 | 5741748 | T | - |
| rs750396637 | NA | 132884 | EVC2 | umls:C0013903 | CLINVAR | NA | 0.568163119 | NA | EVC2 | 4 | 5568590 | GGCCCCG | - |
| rs751356206 | NA | 132884 | EVC2 | umls:C0013903 | CLINVAR | NA | 0.568163119 | NA | EVC2 | 4 | 5622775 | G | A |
| rs794726665 | NA | 2121 | EVC | umls:C0013903 | CLINVAR | NA | 0.56408156 | NA | EVC | 4 | 5793722 | G | T |
| rs794726666 | NA | 2121 | EVC | umls:C0013903 | CLINVAR | NA | 0.56408156 | NA | EVC | 4 | 5804737 | G | - |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:40) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001241 | Capitate-hamate fusion | MP:0009887 | abnormal palatal shelf fusion at midline | any anomaly in the process in which the palatal shelves grow toward the midline and adhere along the medial edge epithelia, forming the midline epithelial seam which disappears in later stages |
| HP:0001654 | Abnormality of the heart valves | MP:0008158 | increased diameter of femur | increased width of the cross-sectional distance that extends from one lateral edge of the femur, through its center and to the opposite lateral edge |
| HP:0001508 | Failure to thrive | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| HP:0001829 | Foot polydactyly | MP:0009744 | postaxial polydactyly | duplication of all or part of any of the rays except the first ray on one or more of the autopods |
| HP:0000774 | Narrow chest | MP:0004134 | abnormal chest morphology | any structural anomaly of the part of the body between the neck and the abdomen |
| HP:0000773 | Short ribs | MP:0004672 | short ribs | reduced length of the bones forming the bony wall of the chest |
| HP:0000924 | Abnormality of the skeletal system | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0006695 | Atrioventricular canal defect | MP:0010420 | muscular ventricular septal defect | abnormal communications between the two lower chambers of the heart, involving the muscular septum and often occurring as multiple communications, and includes central muscular or midmuscular, apical, or marginal communications when the defect is along th |
| HP:0008921 | Neonatal short-limb short stature | MP:0004830 | short incisors | reduced length of the set of long teeth that are the most anterior and prominent in the jaw |
| HP:0011362 | Abnormal hair quantity | MP:0008861 | abnormal hair shedding | anomaly in the hair cycle changes the timing of the hair loss that normally follows the anagen phase |
| HP:0005048 | Synostosis of carpal bones | MP:0012528 | abnormal zone of polarizing activity morphology | any structural anomaly of the subset of cells found in the posterior mesenchyme region of the vertebrate limb bud; Sonic hedgehog (Shh) produced by ZPA represents the key mediator of the polarizing activity that regulates patterning of the limb along the |
| HP:0002488 | Acute leukemia | MP:0005481 | increased chronic myelocytic leukemia incidence | higher than normal incidence of a heterogeneous group of myeloproliferative disorders that may evolve into acute leukemia in late stages |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | MP:0013620 | increased internal diameter of femur | increased cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0000888 | Horizontal ribs | MP:0004672 | short ribs | reduced length of the bones forming the bony wall of the chest |
| HP:0011065 | Conical incisor | MP:0005358 | abnormal incisor morphology | any structural anomaly of the teeth, normally consisting of two pairs, top and bottom, of the long teeth that are the most anterior and prominent in the jaw |
| HP:0001595 | Abnormality of the hair | MP:0008261 | arrest of male meiosis | cessation of the progression of the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell |
| HP:0001597 | Abnormality of the nail | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0000008 | Abnormality of female internal genitalia | MP:0009403 | increased variability of skeletal muscle fiber size | greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls |
| HP:0006477 | Abnormality of the alveolar ridges | MP:0004686 | decreased length of long bones | reduced end-to-end length of the several elongated bones of the extremities |
| HP:0000695 | Natal tooth | MP:0002100 | abnormal tooth morphology | atypical size, shape or hard tissue structure of the teeth |
| HP:0000190 | Abnormality of oral frenula | MP:0009886 | failure of palatal shelf elevation | the palatal shelves fail to move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue |
| HP:0001231 | Abnormality of the fingernails | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0001631 | Atria septal defect | MP:0011667 | double outlet right ventricle with atrioventricular septal defect | a form of DORV in which there is also a complete atrioventricular canal |
| HP:0001161 | Hand polydactyly | MP:0009744 | postaxial polydactyly | duplication of all or part of any of the rays except the first ray on one or more of the autopods |
| HP:0000069 | Abnormality of the ureter | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0000684 | Delayed eruption of teeth | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0000077 | Abnormality of the kidney | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | MP:0010728 | fusion of atlas and occipital bones | union of elements of the atlas and the bone at the lower, posterior part of the skull into one structure |
| HP:0002750 | Delayed skeletal maturation | MP:0003379 | absent sexual maturation | failure to initiate pubertal changes that result in achievement of full sexual capacity |
| HP:0009882 | Short distal phalanx of finger | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0001162 | Postaxial hand polydactyly | MP:0009743 | preaxial polydactyly | duplication of all or part of the first ray on one or more of the autopods |
| HP:0001511 | Intrauterine growth retardation | MP:0011109 | lethality throughout fetal growth and development, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5) |
| HP:0001696 | Situs inversus totalis | MP:0011252 | situs inversus totalis | the complete right to left reversal (transposition) of the thoracic and abdominal organs, including the heart (dextrocardia) |
| HP:0005561 | Abnormality of bone marrow cell morphology | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0001629 | Ventricular septal defect | MP:0011667 | double outlet right ventricle with atrioventricular septal defect | a form of DORV in which there is also a complete atrioventricular canal |
| HP:0000164 | Abnormality of the teeth | MP:0010382 | abnormal dosage compensation, by inactivation of X chromosome | anomaly in the process of compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex |
| HP:0001830 | Postaxial foot polydactyly | MP:0009744 | postaxial polydactyly | duplication of all or part of any of the rays except the first ray on one or more of the autopods |
| HP:0003026 | Short long bone | MP:0013618 | decreased areal bone mineral density | reduction of the mineral mass per unit area of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; expressed as the amount of mineral per area cm^2 of bone (usually in g/c |
| HP:0000204 | Cleft upper lip | MP:0005170 | cleft upper lip | defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences |
| HP:0006035 | Cone-shaped epiphyses of phalanges 2 to 5 | MP:0004686 | decreased length of long bones | reduced end-to-end length of the several elongated bones of the extremities |
Mapped by homologous gene(Total Items:66) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000695 | Natal tooth | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0010306 | Short thorax | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001595 | Abnormality of the hair | MP:0014127 | increased thymoma incidence | greater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseas |
| HP:0000164 | Abnormality of the teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000774 | Narrow chest | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001631 | Atria septal defect | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001161 | Hand polydactyly | MP:0013545 | cleft hard palate | cleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones |
| HP:0001654 | Abnormality of the heart valves | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0000486 | Strabismus | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0006477 | Abnormality of the alveolar ridges | MP:0011711 | impaired osteoblast differentiation | reduced ability or inability to produce skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell |
| HP:0001830 | Postaxial foot polydactyly | MP:0013901 | absent female preputial gland | absence of the paired, lobulated, modified sebaceous glands located on the side of the clitoris in female rodents; in contrast to the preputial glands in male rodents, clitoral glands are a minor source of olfactory stimuli contributing to sexual attracti |
| HP:0002164 | Nail dysplasia | MP:0014175 | abnormal ciliary epithelium morphology | any structural anomaly of the double layer lining the inner surfaces of the ciliary processes and the pars plana (i.e. the posterior portion of the ciliary body, aka orbicularis ciliari); the outer layer is the pigmented epithelium, which is composed of l |
| HP:0000069 | Abnormality of the ureter | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0002866 | Hypoplastic iliac wing | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0001162 | Postaxial hand polydactyly | MP:0014117 | increased pancreatic beta cell apoptosis | increase in the number of pancreatic beta cells undergoing programmed cell death |
| HP:0001629 | Ventricular septal defect | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001651 | Dextrocardia | MP:0012739 | abnormal anterior primitive streak morphology | any structural anomaly of the anterior region of the vertebrate primitive streak which gives rise to the axial and paraxial mesoderm, the definitive endoderm, the primitive groove, and the primitive node |
| HP:0000008 | Abnormality of female internal genitalia | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| HP:0000968 | Ectodermal dysplasia | MP:0014175 | abnormal ciliary epithelium morphology | any structural anomaly of the double layer lining the inner surfaces of the ciliary processes and the pars plana (i.e. the posterior portion of the ciliary body, aka orbicularis ciliari); the outer layer is the pigmented epithelium, which is composed of l |
| HP:0001696 | Situs inversus totalis | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0002097 | Emphysema | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0008921 | Neonatal short-limb short stature | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003026 | Short long bone | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000047 | Hypospadias | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000190 | Abnormality of oral frenula | MP:0012253 | abnormal intersomitic vessel morphology | any structural anomaly of the primary blood vessel sprouts that originate from the dorsal aorta and posterior cardinal vein and align dorsoventrally at the myotomal boundaries between somites |
| HP:0002488 | Acute leukemia | MP:0013886 | increased CD4-negative, CD25-positive NK T cell number | increase in the number of CD4-negative NK T cells expressing the activation marker CD25 |
| HP:0009882 | Short distal phalanx of finger | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001508 | Failure to thrive | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0011362 | Abnormal hair quantity | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000204 | Cleft upper lip | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000028 | Cryptorchidism | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001511 | Intrauterine growth retardation | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001231 | Abnormality of the fingernails | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000039 | Epispadias | MP:0014044 | absent cardiac outflow tract | absence of or complete failure to form the common arterial trunk that normally forms the aorta and pulmonary artery and the ventricular outflow regions |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0011830 | Abnormality of oral mucosa | MP:0002169 | no abnormal phenotype detected | normal viability, fertility, appearance and behavior; reported phenotype is indistinguishable from controls |
| HP:0001305 | Dandy-Walker malformation | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| HP:0000077 | Abnormality of the kidney | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| HP:0002857 | Genu valgum | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0011565 | Common atrium | MP:0011711 | impaired osteoblast differentiation | reduced ability or inability to produce skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell |
| HP:0001829 | Foot polydactyly | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0011065 | Conical incisor | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000768 | Pectus carinatum | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001800 | Hypoplastic toenails | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001597 | Abnormality of the nail | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002983 | Micromelia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002967 | Cubitus valgus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006695 | Atrioventricular canal defect | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0000924 | Abnormality of the skeletal system | MP:0014071 | increased cardiac muscle glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in heart muscle |
| HP:0000233 | Thin vermilion border | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000072 | Hydroureter | MP:0014044 | absent cardiac outflow tract | absence of or complete failure to form the common arterial trunk that normally forms the aorta and pulmonary artery and the ventricular outflow regions |
| HP:0008678 | Renal hypoplasia/aplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000684 | Delayed eruption of teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000691 | Microdontia | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0006035 | Cone-shaped epiphyses of phalanges 2 to 5 | MP:0011711 | impaired osteoblast differentiation | reduced ability or inability to produce skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell |
| HP:0005561 | Abnormality of bone marrow cell morphology | MP:0014071 | increased cardiac muscle glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in heart muscle |
| HP:0001762 | Talipes equinovarus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000888 | Horizontal ribs | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0002750 | Delayed skeletal maturation | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000773 | Short ribs | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0005048 | Synostosis of carpal bones | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0010454 | Acetabular spurs | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001241 | Capitate-hamate fusion | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000668 | Hypodontia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 277 |
|---|---|
| Disease | ellis van creveld syndrome |
| Case | (Waiting for update.) |