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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   hypertrichotic osteochondrodysplasia
  

Disease ID 1965
Disease hypertrichotic osteochondrodysplasia
Synonym
cantu syndrome
cantu's syndrome
cantu's syndrome (disorder)
hypertrichosis-osteochondrodysplasia-cardiomegaly syndrome
OMIM
UMLS
C0795905
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:1)
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:3)
3764  |  KCNJ8  |  ORPHANET
4584  |  MUC3A  |  CLINVAR
10060  |  ABCC9  |  CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 1965
Disease hypertrichotic osteochondrodysplasia
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:39)
HP:0005129  |  Congenital hypertrophy of left ventricle
HP:0005445  |  Widened posterior fossa
HP:0003300  |  Oval vertebral bodies
HP:0000215  |  Increased volume of upper lip
HP:0001698  |  Pericardial effusions
HP:0000463  |  Nostrils anteverted
HP:0000256  |  Macrocrania
HP:0010109  |  Hypoplastic big toes
HP:0002690  |  Hyperplasia of sella turcica
HP:0000527  |  Long eyelashes
HP:0000343  |  Vertical hyperplasia of philtrum
HP:0000470  |  Decreased cervical height
HP:0000286  |  Palpebronasal fold
HP:0004975  |  Erlenmeyer flask femora
HP:0000179  |  Plump lower lip
HP:0003016  |  Wide metaphyses
HP:0008822  |  Hypoplastic ischiopubic rami
HP:0001643  |  Persistent ductus arteriosus
HP:0001647  |  Bicuspid aortic valve
HP:0005280  |  Flat, nasal bridge
HP:0002750  |  Delayed bone maturation
HP:0000939  |  Osteoporosis
HP:0000774  |  Low chest circumference
HP:0001537  |  Umbilical hernias
HP:0000431  |  Broad nasal root
HP:0001004  |  Lymphatic obstruction
HP:0004540  |  Hypertrichosis universalis
HP:0000926  |  Flattened vertebral bodies
HP:0007665  |  Curly eyelashes
HP:0001520  |  Birthweight > 90th percentile
HP:0004634  |  Cuboid-shaped vertebral bodies
HP:0001640  |  Increased heart size
HP:0000280  |  Coarse facial features
HP:0010068  |  Broad 1st metatarsal
HP:0000212  |  Gingival overgrowth
HP:0010055  |  Abnormally broad great toes
HP:0011220  |  Prominent forehead
HP:0001256  |  Mild mental retardation
HP:0002673  |  Coxa valga
Text Mined Phenotype(Waiting for update.)
Disease ID 1965
Disease hypertrichotic osteochondrodysplasia
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:9)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs145584597NA4584MUC3Aumls:C0795905CLINVARNA0.12NAMUC3A;LOC1053754317100960259CT
rs387907208NA10060ABCC9umls:C0795905CLINVARNA0.481357209NAABCC91221842327GA
rs387907209NA10060ABCC9umls:C0795905CLINVARNA0.481357209NAABCC91221842326CT,G
rs387907210NA10060ABCC9umls:C0795905CLINVARNA0.481357209NAABCC91221844884CT
rs387907211NA10060ABCC9umls:C0795905CLINVARNA0.481357209NAABCC91221908099GA
rs387907227NA10060ABCC9umls:C0795905CLINVARNA0.481357209NAABCC91221842440CT
rs387907228NA10060ABCC9umls:C0795905CLINVARNA0.481357209NAABCC91221842441GA
rs387907229NA10060ABCC9umls:C0795905CLINVARNA0.481357209NAABCC91221845641AG
rs387907230NA10060ABCC9umls:C0795905CLINVARNA0.481357209NAABCC91221933888GA
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:14)
HP ID HP Name MP ID MP Name Annotation
HP:0001647Bicuspid aortic valveMP:0010620thick mitral valvean increase in the ratio of the mitral valve wall thickness to the atrioventricular septum thickness
HP:0000431Wide nasal bridgeMP:0006292abnormal nasal placode morphologyany structural anomaly in the paired ectodermal placodes that come to lie in the bottom of the olfactory pits as the pits are deepened by the growth of the surrounding medial and lateral nasal processes; the nasal placode gives rise to the olfactory epith
HP:0000179Thick lower lip vermilionMP:0005170cleft upper lipdefect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences
HP:0001643Patent ductus arteriosusMP:0011662persistent truncus arteriosus type iicomplete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; type II is characterized by separate but proximate origins of the left and right pulmonary arterial branches fro
HP:0000470Short neckMP:0012720elongated neckincreased length of the neck
HP:0001537Umbilical herniaMP:0010146umbilical herniaan outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close
HP:0010055Broad halluxMP:0009049abnormal hallux morphologyany structural anomaly of the first or primary digit of the foot
HP:0000774Narrow chestMP:0004134abnormal chest morphologyany structural anomaly of the part of the body between the neck and the abdomen
HP:0000280Coarse facial featuresMP:0008018increased facial tumor incidencegreater than the expected number of neoplasms on the face, usually in the form of a distinct mass, in a specific population in a given time period
HP:0004975Erlenmeyer flask deformity of the femursMP:0009005abnormal sesamoid bone of gastrocnemius morphologyany structural anomaly of the small sesamoid bones situated behind the condyles of the femur
HP:0005280Depressed nasal bridgeMP:0013582abnormal lateral nasal gland morphologyany structural anomaly of the lateral nasal glands (the largest nasal secretory glands in rodents) which surround the maxillary sinus located in the lateral wall adjacent to each nasal passage and are characterized by cytologic features similar to those d
HP:0003300Ovoid vertebral bodiesMP:0004704short vertebral columndecreased rostral-caudal length of the complete structure forming the rostral-caudal axis of the skeleton formed from the alternating segments of vertebra and intervertebral discs which support the spinal cord
HP:0010109Short halluxMP:0009001absent halluxabsence of the first or primary digit of the foot
HP:0002750Delayed skeletal maturationMP:0003379absent sexual maturationfailure to initiate pubertal changes that result in achievement of full sexual capacity
Mapped by homologous gene(Total Items:39)
HP ID HP Name MP ID MP Name Annotation
HP:0002690Large sella turcicaMP:0014185cerebellum atrophyacquired 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:0001640CardiomegalyMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0001256Intellectual disability, mildMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0001647Bicuspid aortic valveMP:0020039increased bone ossificationincrease 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:0000774Narrow chestMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0007665Curly eyelashesMP:0011966abnormal auditory brainstem response waveform shapeany anomaly in the characteristic pattern of electrical activity recording of a series of vertex positive waves generated by neurons in the ascending auditory system, that can be recorded from scalp electrograms by using computer-averaged responses to sho
HP:0010068Broad first metatarsalMP:0011110preweaning lethality, incomplete penetrancethe appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age)
HP:0004540Congenital, generalized hypertrichosisMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000212Gingival overgrowthMP:0014179abnormal blood-retinal barrier functionanomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci
HP:0000463Anteverted naresMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0002673Coxa valgaMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0001004LymphedemaMP:0014171increased fatty acid oxidationincreased 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:0008822Hypoplastic ischiopubic ramiMP:0009791increased susceptibility to viral infection induced morbidity/mortalityincreased likelihood that an organism will display the expected moribund state caused by a viral invasion or from components of or toxins produced by a virus
HP:0001698Pericardial effusionMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000215Thick upper lip vermilionMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0005445Widened posterior fossaMP:0009791increased susceptibility to viral infection induced morbidity/mortalityincreased likelihood that an organism will display the expected moribund state caused by a viral invasion or from components of or toxins produced by a virus
HP:0010055Broad halluxMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0004634Cuboid-shaped vertebral bodiesMP:0009791increased susceptibility to viral infection induced morbidity/mortalityincreased likelihood that an organism will display the expected moribund state caused by a viral invasion or from components of or toxins produced by a virus
HP:0000939OsteoporosisMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0005280Depressed nasal bridgeMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0010109Short halluxMP:0020040decreased bone ossificationdecrease 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:0001643Patent ductus arteriosusMP:3000003abnormal Ebner's gland morphologyany 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:0003300Ovoid vertebral bodiesMP:0014185cerebellum atrophyacquired 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:0001520Large for gestational ageMP:0014169decreased brown adipose tissue massdecreased physical bulk or volume of brown adipose tissue
HP:0000470Short neckMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0011220Prominent foreheadMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0000286EpicanthusMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0000179Thick lower lip vermilionMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0000280Coarse facial featuresMP:0020169increased thyroid gland weighthigher than average weight of the thyroid gland
HP:0000343Long philtrumMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0001537Umbilical herniaMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0000926PlatyspondylyMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0002750Delayed skeletal maturationMP:0020169increased thyroid gland weighthigher than average weight of the thyroid gland
HP:0000256MacrocephalyMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0004975Erlenmeyer flask deformity of the femursMP:0013781abnormal mammary gland luminal epithelium morphologyany structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti
HP:0000527Long eyelashesMP:0013956decreased colon lengthreduced length of the portion of the large intestine between the cecum and the rectum
HP:0000431Wide nasal bridgeMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0005129Congenital hypertrophy of left ventricleMP:0009791increased susceptibility to viral infection induced morbidity/mortalityincreased likelihood that an organism will display the expected moribund state caused by a viral invasion or from components of or toxins produced by a virus
HP:0003016Metaphyseal wideningMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
Disease ID 1965
Disease hypertrichotic osteochondrodysplasia
Case(Waiting for update.)