eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| chst3-related skeletal dysplasia | ||||
| Disease ID | 1641 |
|---|---|
| Disease | chst3-related skeletal dysplasia |
| Synonym | cdmd chondrodysplasia with multiple dislocations hsd humero-spinal dysostosis humerospinal dysostosis omani type of spondyloepiphyseal dysplasia sed with luxations, chst3 type sed, omani type sedcjd spondyloepiphyseal dysplasia with congenital joint dislocations spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) spondyloepiphyseal dysplasia, chst3-related spondyloepiphyseal dysplasia, omani type |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1837657 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences: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:22) 176 | ACAN | 3.206 | DISEASES 1645 | AKR1C1 | 1.623 | DISEASES 415 | ARSE | 1.853 | DISEASES 347527 | ARSH | 2.214 | DISEASES 54829 | ASPN | 2.03 | DISEASES 55636 | CHD7 | 1.577 | DISEASES 9469 | CHST3 | 5.647 | DISEASES 1301 | COL11A1 | 2.863 | DISEASES 1302 | COL11A2 | 2.335 | DISEASES 1280 | COL2A1 | 6.719 | DISEASES 2261 | FGFR3 | 1.807 | DISEASES 2317 | FLNB | 3.118 | DISEASES 2737 | GLI3 | 1.226 | DISEASES 51520 | LARS | 1.297 | DISEASES 9361 | LONP1 | 2.278 | DISEASES 4541 | MT-ND6 | 1.743 | DISEASES 100151683 | RNU4ATAC | 3.333 | DISEASES 26278 | SACS | 2.034 | DISEASES 6597 | SMARCA4 | 3.238 | DISEASES 50485 | SMARCAL1 | 6.303 | DISEASES 6399 | TRAPPC2 | 5.546 | DISEASES 8838 | WISP3 | 4.65 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) CHST3 | 10q22.1 |
| Disease ID | 1641 |
|---|---|
| Disease | chst3-related skeletal dysplasia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:84) HP:0002945 | Narrow intervertebral spaces HP:0003184 | Decreased hip abduction HP:0003042 | Radiocapitellar dislocation HP:0001650 | Valvular aortic stenosis HP:0010049 | Metacarpal hypoplasia HP:0001659 | Aortic insufficiency HP:0008905 | Rhizomelic short limbs HP:0003071 | Flattened epiphysis HP:0000691 | Decreased width of tooth HP:0002553 | Highly arched eyebrow HP:0003417 | Coronal vertebral clefts HP:0003521 | Disproportionate short-trunk short stature HP:0030680 | Abnormality of cardiovascular system morphology HP:0000365 | Hearing impairment HP:0002194 | Delayed motor skills HP:0000316 | Increased distance between eye sockets HP:0009882 | Hypoplastic terminal phalanges HP:0001718 | Mitral stenosis HP:0000343 | Vertical hyperplasia of philtrum HP:0001629 | Ventricular septal defects HP:0006462 | Generalized bone demineralization HP:0000470 | Decreased cervical height HP:0000337 | Broad forehead HP:0001156 | Brachydactyly syndrome HP:0002829 | Arthralgia HP:0001371 | Flexion contracture HP:0007598 | Bilateral single transverse palmar creases HP:0001552 | Barrel-shaped chest HP:0001270 | Motor delay HP:0008450 | Narrow vertebral interpedicular distance HP:0002938 | Exaggerated lumbar lordosis HP:0002092 | Pulmonary artery hypertension HP:0001762 | Talipes equinovarus HP:0005180 | Tricuspid insufficiency HP:0010585 | Small end part of bone HP:0010446 | Tricuspid stenosis HP:0003093 | Restricted hip extension HP:0000684 | Delayed eruption of teeth HP:0000535 | Thin, sparse eyebrows HP:0000316 | Hypertelorism HP:0010585 | Small epiphyses HP:0045075 | Sparse eyebrow HP:0000343 | Long philtrum HP:0003022 | Short ulna HP:0001642 | Pulmonic stenosis HP:0003037 | Enlarged joints HP:0010049 | Short metacarpal HP:0000914 | Shield chest HP:0003312 | Abnormal form of the vertebral bodies HP:0002982 | Bowed tibia HP:0002751 | Kyphoscoliosis HP:0001653 | Mitral valve insufficiency HP:0000218 | Increased palatal height HP:0002650 | Scoliosis HP:0002945 | Intervertebral space narrowing HP:0002750 | Delayed bone maturation HP:0009179 | Displaced pinkie finger HP:0000337 | Increased bitemporal dimension HP:0002857 | Genu valgum HP:0003040 | Arthropathy HP:0001714 | Ventricular hypertrophy HP:0003301 | vertebral endplate irregularity HP:0009811 | Abnormality of the elbow HP:0003031 | Ulnar bowing HP:0006610 | Wide intermamillary distance HP:0002515 | Waddling gait HP:0002655 | Spondyloepiphyseal dysplasia HP:0009803 | Hypoplastic/small phalanges of the hand HP:0100864 | Short femoral necks HP:0003834 | Shoulder dislocation HP:0008905 | Rhizomelia HP:0002967 | Cubitus valgus HP:0001552 | Barrel chest HP:0003090 | Hypoplasia of the capital femoral epiphysis HP:0100490 | Camptodactyly of finger HP:0000687 | Widely spaced teeth HP:0001763 | Pes planus HP:0006067 | Multiple carpal ossification centers HP:0010582 | Irregular epiphyses HP:0004976 | Dislocations of the knees HP:0008551 | Hypoplasia of the external ear HP:0001156 | Brachydactyly HP:0002829 | Arthralgias HP:0006471 | Fixed elbow flexion |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1641 |
|---|---|
| Disease | chst3-related skeletal dysplasia |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908620 | 18698629 | 9469 | CHST3 | umls:C1837657 | BeFree | Here we describe the identification of a mutation (857T > C predicting the substitution L286P) in CHST3 in a Turkish family and extend the clinical phenotype of SED-Omani type to include congenital joint dislocation, club feet, ventricular septal defect, deafness, metacarpal shortening and accessory carpal ossification centers. | 0.361357209 | 2008 | CHST3 | 10 | 72007888 | T | C |
| rs28937593 | 15215498 | 9469 | CHST3 | umls:C1837657 | UNIPROT | Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. | 0.361357209 | 2004 | CHST3 | 10 | 72007942 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:29) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0009179 | Deviation of the 5th finger | MP:0004499 | increased incidence of tumors by chemical induction | higher than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens |
| HP:0000687 | Widely spaced teeth | MP:0004033 | supernumerary teeth | occurrence of more than the usual number of teeth |
| HP:0003417 | Coronal cleft vertebrae | MP:0009890 | cleft secondary palate | congenital fissure of the tissues normally uniting to form the secondary palate |
| HP:0003521 | Disproportionate short-trunk short stature | MP:0004355 | short radius | reduced length of the short bone of the lateral forearm |
| HP:0006462 | Generalized bone demineralization | MP:0010878 | increased trabecular bone volume | increase in the amount of space occupied by trabecular bone tissue in the skeleton |
| HP:0002092 | Pulmonary hypertension | MP:0005258 | ocular hypertension | abnormal elevation of the intraocular pressure |
| HP:0003090 | Hypoplasia of the capital femoral epiphysis | MP:0010919 | increased number of pulmonary neuroendocrine bodies | greater number of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the air |
| HP:0030680 | Abnormality of cardiovascular system 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:0001552 | Barrel-shaped chest | MP:0004134 | abnormal chest morphology | any structural anomaly of the part of the body between the neck and the abdomen |
| HP:0000218 | High palate | MP:0011615 | submucous cleft palate | a cleft of the palate with cardinal signs including a bifid uvula, a V-shaped notch at the back of the hard palate, and/or a translucent line in the midline of the soft palate and a short palate |
| HP:0001650 | Aortic valve stenosis | MP:0010618 | enlarged mitral valve | an increase in the total area occupied by the mitral valve |
| HP:0002194 | Delayed gross motor development | MP:0011165 | abnormal tooth root development | aberrant or incomplete formation of the part of a tooth that is implanted in the gum; the root is normally located below the neck of the tooth, covered by cementum rather than enamel, and attached by the periodontal ligament to the alveolar bone |
| HP:0001642 | Pulmonic stenosis | MP:0010449 | heart right ventricle outflow tract stenosis | abnormal constriction or narrowing of part of the anteriosuperior, smooth-walled portion of the cavity of the right ventricle, beginning at the supraventricular crest and terminating in the pulmonary trunk |
| HP:0000914 | Shield chest | MP:0004134 | abnormal chest morphology | any structural anomaly of the part of the body between the neck and the abdomen |
| HP:0003312 | Abnormal form of the vertebral bodies | 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:0006067 | Multiple carpal ossification centers | MP:0020040 | decreased bone ossification | decrease 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:0002515 | Waddling gait | MP:0001406 | abnormal gait | abnormal pattern of movement of the limbs of animals, characterized by elements of progression, stability, speed and length over the ground |
| HP:0010049 | Short metacarpal | MP:0004634 | short metacarpal bones | reduced length of the five bones of the forepaws that articulate proximally with the carpal bones and distally with the phalanges |
| 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: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:0009803 | Short phalanx of finger | 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:0100490 | Camptodactyly 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:0000470 | Short neck | MP:0012720 | elongated neck | increased length of the neck |
| HP:0003022 | Hypoplasia of the ulna | MP:0012167 | abnormal epigenetic regulation of gene expression | any anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA |
| HP:0003301 | Irregular vertebral endplates | MP:0004667 | vertebral body hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the main cylindrical portion of the vertebra ventral to the vertebral canal |
| HP:0001718 | Mitral stenosis | MP:0006117 | aortic valve stenosis | abnormal narrowing of the aortic valve |
| 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:0009811 | Abnormality of the elbow | 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 |
Mapped by homologous gene(Total Items:73) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003417 | Coronal cleft vertebrae | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003521 | Disproportionate short-trunk short stature | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008905 | Rhizomelia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0007598 | Bilateral single transverse palmar creases | MP:0012279 | wide sternum | an increase in the width of the long flat bone of the chest that articulates with the clavicle and first seven rib pairs |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0009179 | Deviation of the 5th finger | MP:0011092 | embryonic lethality, complete penetrance | death of all organisms of a given genotype in a population within the embryonic period prior to organogenesis (Mus: prior to E14) |
| HP:0010585 | Small epiphyses | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0004976 | Knee dislocation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001552 | Barrel-shaped chest | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003093 | Limited hip extension | 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:0003834 | Shoulder dislocation | MP:0009142 | decreased prepulse inhibition | decrease in the ability of a relatively mild stimulus to suppress the response to a strong, startle-eliciting stimulus |
| HP:0006610 | Wide intermamillary distance | 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:0003040 | Arthropathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100864 | Short femoral neck | 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:0002515 | Waddling gait | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0008551 | Microtia | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0010049 | Short metacarpal | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001371 | Flexion contracture | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| 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:0000687 | Widely spaced teeth | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000535 | Sparse eyebrow | 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:0006067 | Multiple carpal ossification centers | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001659 | Aortic regurgitation | 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:0002194 | Delayed gross motor development | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000316 | Hypertelorism | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0009882 | Short distal phalanx of finger | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002092 | Pulmonary hypertension | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0010582 | Irregular epiphyses | MP:0014091 | abnormal tectorial membrane striated-sheet matrix morphology | any structural anomaly of the laminated, striated-sheet matrix within which collagen fibrils of the TM are imbedded; the striated sheet matrix is formed by two types of fine-diameter collagen filaments, a light and a dark staining type that lie in paralle |
| HP:0002553 | Highly arched eyebrow | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0003301 | Irregular vertebral endplates | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003184 | Decreased hip abduction | MP:0009458 | abnormal skeletal muscle size | anomaly in the size of the striated muscle fibers connected at either or both extremities with the bony framework of the body |
| HP:0000337 | Broad forehead | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0003042 | Elbow dislocation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002857 | Genu valgum | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001156 | Brachydactyly syndrome | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0100490 | Camptodactyly of finger | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002938 | Lumbar hyperlordosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001650 | Aortic valve stenosis | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0009811 | Abnormality of the elbow | 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:0010446 | Tricuspid stenosis | MP:0011108 | embryonic lethality during organogenesis, 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 embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) |
| HP:0003031 | Ulnar bowing | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003090 | Hypoplasia of the capital femoral epiphysis | 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:0002945 | Intervertebral space narrowing | MP:0014166 | ectopic cranial bone | the appearance of an extra bone structure at an atypical location in or near the cranium |
| HP:0002829 | Arthralgia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0003022 | Hypoplasia of the ulna | 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:0002751 | Kyphoscoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0006462 | Generalized bone demineralization | MP:0012175 | flat face | the appearance of a flattened surface outline or contour of a normally rounded face of an organism |
| HP:0000470 | Short neck | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001642 | Pulmonic stenosis | MP:0020040 | decreased bone ossification | decrease 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:0003071 | Flattened epiphysis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000365 | Hearing impairment | 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:0000914 | Shield chest | 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:0002655 | Spondyloepiphyseal dysplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000218 | High palate | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| 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: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:0003312 | Abnormal form of the vertebral bodies | 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:0001714 | Ventricular hypertrophy | MP:0014074 | increased brain glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in brain |
| HP:0030680 | Abnormality of cardiovascular system morphology | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000343 | Long philtrum | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001270 | Motor delay | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0008450 | Narrow vertebral interpedicular distance | MP:0014166 | ectopic cranial bone | the appearance of an extra bone structure at an atypical location in or near the cranium |
| HP:0001762 | Talipes equinovarus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001653 | Mitral regurgitation | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002750 | Delayed skeletal maturation | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0006471 | Fixed elbow flexion | MP:0009142 | decreased prepulse inhibition | decrease in the ability of a relatively mild stimulus to suppress the response to a strong, startle-eliciting stimulus |
| HP:0001763 | Pes planus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002982 | Tibial bowing | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001718 | Mitral stenosis | 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:0005180 | Tricuspid regurgitation | MP:0013241 | embryo tissue necrosis | morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage |
| HP:0009803 | Short phalanx of finger | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003037 | Enlarged joints | 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 |
| Disease ID | 1641 |
|---|---|
| Disease | chst3-related skeletal dysplasia |
| Case | (Waiting for update.) |