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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   diastrophic dwarfism
  

Disease ID 278
Disease diastrophic dwarfism
Synonym
dd - diastrophic dysplasia
diastrophic dwarf
diastrophic dysplasia
diastrophic dysplasia (disorder)
diastrophic dysplasia syndrome
diastrophic nanism syndrome
dtd
dtd - diastrophic dysplasia
Orphanet
OMIM
DOID
ICD10
UMLS
C0220726
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:1)
C0036439  |  scoliosis  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:2)
1836  |  SLC26A2  |  CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
1728  |  NQO1  |  OMIM
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:25)
146  |  ADRA1D  |  2.431  |  DISEASES
633  |  BGN  |  1.424  |  DISEASES
650  |  BMP2  |  1.26  |  DISEASES
57118  |  CAMK1D  |  1.187  |  DISEASES
9469  |  CHST3  |  2.558  |  DISEASES
1280  |  COL2A1  |  3.175  |  DISEASES
1297  |  COL9A1  |  2.529  |  DISEASES
1298  |  COL9A2  |  3.982  |  DISEASES
1299  |  COL9A3  |  3.631  |  DISEASES
2246  |  FGF1  |  2.092  |  DISEASES
2261  |  FGFR3  |  1.699  |  DISEASES
2317  |  FLNB  |  2.05  |  DISEASES
2331  |  FMOD  |  2.046  |  DISEASES
10082  |  GPC6  |  3.844  |  DISEASES
3161  |  HMMR  |  1.862  |  DISEASES
4148  |  MATN3  |  3.588  |  DISEASES
9782  |  MATR3  |  2.653  |  DISEASES
9060  |  PAPSS2  |  3.059  |  DISEASES
9058  |  SLC13A2  |  1.264  |  DISEASES
10861  |  SLC26A1  |  4.22  |  DISEASES
284129  |  SLC26A11  |  4.443  |  DISEASES
1811  |  SLC26A3  |  5.052  |  DISEASES
65010  |  SLC26A6  |  4.467  |  DISEASES
116369  |  SLC26A8  |  5.447  |  DISEASES
115019  |  SLC26A9  |  4.127  |  DISEASES
Locus
Symbol | Locus(Total Locus:1)
SLC26A2  |  5q32
Disease ID 278
Disease diastrophic dwarfism
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:43)
HP:0000028  |  Cryptorchidism
HP:0011800  |  Midface retrusion
HP:0006487  |  Bowing of the long bones
HP:0000365  |  Hearing impairment
HP:0000592  |  Blue sclerae
HP:0005930  |  Abnormality of epiphysis morphology
HP:0001373  |  Joint dislocation
HP:0005280  |  Depressed nasal bridge
HP:0000974  |  Hyperextensible skin
HP:0002205  |  Recurrent respiratory infections
HP:0008434  |  Hypoplastic cervical vertebrae
HP:0000347  |  Micrognathia
HP:0008921  |  Neonatal short-limb short stature
HP:0009748  |  Large earlobe
HP:0005692  |  Joint hyperflexibility
HP:0000316  |  Hypertelorism
HP:0009465  |  Ulnar deviation of finger
HP:0001511  |  Intrauterine growth retardation
HP:0000772  |  Abnormality of the ribs
HP:0000396  |  Overfolded helix
HP:0000889  |  Abnormality of the clavicle
HP:0000175  |  Cleft palate
HP:0003312  |  Abnormal form of the vertebral bodies
HP:0002093  |  Respiratory insufficiency
HP:0000256  |  Macrocephaly
HP:0011001  |  Increased bone mineral density
HP:0000293  |  Full cheeks
HP:0001163  |  Abnormality of the metacarpal bones
HP:0002650  |  Scoliosis
HP:0003042  |  Elbow dislocation
HP:0100761  |  Visceral angiomatosis
HP:0002514  |  Cerebral calcification
HP:0002808  |  Kyphosis
HP:0009623  |  Proximal placement of thumb
HP:0001385  |  Hip dysplasia
HP:0001387  |  Joint stiffness
HP:0009381  |  Short finger
HP:0009773  |  Symphalangism affecting the phalanges of the hand
HP:0100490  |  Camptodactyly of finger
HP:0000368  |  Low-set, posteriorly rotated ears
HP:0001252  |  Muscular hypotonia
HP:0000944  |  Abnormality of the metaphyses
HP:0002983  |  Micromelia
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:2)
HP:0002814  |  Abnormality of the leg  |  1
HP:0002650  |  Scoliosis  |  1
Disease ID 278
Disease diastrophic dwarfism
Manually Symptom
UMLS  | Name(Total Manually Symptoms:2)
C0852866  |  cervical cord compression
C0265673  |  kyphosis
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:1)
C0036439  |  scoliosis  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:32)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs10489391589316951836SLC26A2umls:C0220726BeFreeThe presence of the DTDST R279W mutation in a total of 11 patients with AO2 or DTD emphasizes the overlap between these conditions.0.4500433491996SLC26A25149980428CT
rs104893915NA1836SLC26A2umls:C0220726CLINVARNA0.450043349NASLC26A25149980428CT
rs10489391593422251836SLC26A2umls:C0220726BeFreeThe fetus affected by McAlister dysplasia we have studied is a compound heterozygote for mutations leading to R279W and N425D substitutions in the diastrophic dysplasia sulfate transporter.0.4500433491997SLC26A25149980428CT
rs104893915115650641836SLC26A2umls:C0220726BeFreeA homozygous R279W mutation was recently found in the diastrophic dysplasia sulfate transporter gene, DTDST, in a patient with MED who had a club foot and double-layered patella.0.4500433492001SLC26A25149980428CT
rs104893916NA1836SLC26A2umls:C0220726CLINVARNA0.450043349NASLC26A25149981626GT
rs104893919NA1836SLC26A2umls:C0220726CLINVARNA0.450043349NASLC26A25149978184CT
rs10489392093422251836SLC26A2umls:C0220726BeFreeThe fetus affected by McAlister dysplasia we have studied is a compound heterozygote for mutations leading to R279W and N425D substitutions in the diastrophic dysplasia sulfate transporter.0.4500433491997SLC26A25149980866AG
rs104893920NA1836SLC26A2umls:C0220726CLINVARNA0.450043349NASLC26A25149980866AG
rs104893921NA1836SLC26A2umls:C0220726CLINVARNA0.450043349NASLC26A25149980954AC
rs104893924NA1836SLC26A2umls:C0220726CLINVARNA0.450043349NASLC26A25149981550TA
rs121908077NA1836SLC26A2umls:C0220726CLINVARNA0.450043349NASLC26A25149980611GTT-
rs121908078NA1836SLC26A2umls:C0220726CLINVARNA0.450043349NASLC26A25149981128CA
rs200963884NA1836SLC26A2umls:C0220726CLINVARNA0.450043349NASLC26A25149980292GC
rs267607055NA1836SLC26A2umls:C0220726CLINVARNA0.450043349NASLC26A25149978050CT
rs386833492NA1836SLC26A2umls:C0220726CLINVARNA0.450043349NASLC26A2;PDE6A5149960981TC
rs386833493NA1836SLC26A2umls:C0220726CLINVARNA0.450043349NASLC26A25149980750CG,T
rs386833494NA1836SLC26A2umls:C0220726CLINVARNA0.450043349NASLC26A25149980835AAAC-
rs386833495NA1836SLC26A2umls:C0220726CLINVARNA0.450043349NASLC26A25149980987T-
rs386833496NA1836SLC26A2umls:C0220726CLINVARNA0.450043349NASLC26A25149981044GA
rs386833497NA1836SLC26A2umls:C0220726CLINVARNA0.450043349NASLC26A25149981243G-
rs386833498NA1836SLC26A2umls:C0220726CLINVARNA0.450043349NASLC26A25149981317A-
rs386833499NA1836SLC26A2umls:C0220726CLINVARNA0.450043349NASLC26A25149981569T-
rs386833500NA1836SLC26A2umls:C0220726CLINVARNA0.450043349NASLC26A25149981576A-
rs386833501NA1836SLC26A2umls:C0220726CLINVARNA0.450043349NASLC26A25149981713TT-
rs386833502NA1836SLC26A2umls:C0220726CLINVARNA0.450043349NASLC26A25149977907C-
rs386833503NA1836SLC26A2umls:C0220726CLINVARNA0.450043349NASLC26A25149977983GT
rs386833504NA1836SLC26A2umls:C0220726CLINVARNA0.450043349NASLC26A25149978055CA
rs386833505NA1836SLC26A2umls:C0220726CLINVARNA0.450043349NASLC26A25149977699CG
rs386833506NA1836SLC26A2umls:C0220726CLINVARNA0.450043349NASLC26A25149978148GA
rs386833507NA1836SLC26A2umls:C0220726CLINVARNA0.450043349NASLC26A25149977707GT
rs386833508NA1836SLC26A2umls:C0220726CLINVARNA0.450043349NASLC26A25149980298GATGGGC-
rs386833509NA1836SLC26A2umls:C0220726CLINVARNA0.450043349NASLC26A25149980499CT-
GWASdb Annotation(Total Genotypes:4)
Chr Pos SNP_Id RefGene EnsemblGene ENCODE_Factor ENCODE_TFBS Chromosome_interaction GTEx_eQTL SNP_TFBS_affinity_GWAS3D SNP_miRNA_target_affinity_PolymiRTS SNP_splicing_effect_Skippy SNP_splicing_effect_MutPred_Splice SNP_ns_protein_effect_dbNSFP SNP_syn_effect_Silva SNP_phosphorylation_effect_PhosSNP PhastCons_score PhyloP_score GERP++_RS Segway_state Ancestral_allele ESP_AF ESP_AFR ESP_AFR ESP_EUR TG_ASN TG_AMR TG_AFR TG_EUR Type Consequence bStatistic EncH3K27Ac EncH3K4Me1 EncH3K4Me3 EncNucleo OMIM Clinvar
1669745145rs1800566NM_000903,NQO1NM_001025433,NQO1NM_001025434,NQO1ENST00000379047,ENSG00000181019ENST00000320623,ENSG00000181019ENST00000379046,ENSG00000181019ENST00000439109,ENSG00000181019MCV-2NAchr16,69740001,69750000,chr16,70020001,70030000,121,Hi-Cchr16,69740001,69750000,chr16,70050001,70060000,13,Hi-Cchr16,69740001,69750000,chr16,74430001,74440000,17,Hi-CNAHoxa11_2218,1.7664Hoxc10_2779,1.3866Hoxd11_3873,1.3238Hoxd12_3481,1.4685LM12,1.4701NANANANQO1,G,T,P,T,0.888,0.99,1,0.996336NQO1,G,C,P,A,0.931,0.97,1,0.989557NQO1,G,A,P,S,0.215,0.96,1,0.992684NQO1,G,T,P,T,0.888,0.99,1,0.996336NQO1,G,C,P,A,0.931,0.97,1,0.989557NQO1,G,A,P,S,0.215,0.96,1,0.992684NQO1,G,T,P,T,0.888,0.99,1,0.996336NQO1,G,C,P,A,0.931,0.97,1,0.989557NQO1,G,A,P,S,0.215,0.96,1,0.992684NANM_000903,TypeI+,CCT->TCT,P->S,5.6NM_000903,TypeI+,CCT->TCT,P->S,4NM_001025433,TypeI+,CCT->TCT,P->S,5.6NM_001025433,TypeI+,CCT->TCT,P->S,4
1669748869rs1131341NM_000903,NQO1NM_001025433,NQO1NM_001025434,NQO1ENST00000379047,ENSG00000181019ENST00000320623,ENSG00000181019ENST00000379046,ENSG00000181019ENST00000439109,ENSG00000181019MCV-3NAchr16,69740001,69750000,chr16,70020001,70030000,121,Hi-Cchr16,69740001,69750000,chr16,70050001,70060000,13,Hi-Cchr16,69740001,69750000,chr16,74430001,74440000,17,Hi-CNAGABPA,171.388Roaz,14.6286SCGGAAGY,75.1673CGGAARNGGCNG,13.624YTCCCRNNAGGY,10.5992NAENSE00001241509,0.9825NANQO1,G,C,R,G,0.426,0.99,0.993071,0.001814NQO1,G,A,R,W,0.946,1,0.993071,0.004282NQO1,G,C,R,G,0.426,0.99,0.993071,0.001814NQO1,G,A,R,W,0.946,1,0.993071,0.004282NANM_000903,TypeII-,CGG->TGG,R->W,2.136NM_000903,TypeII-,CGG->TGG,R->W,3.583NM_000903,TypeII-,CGG->TGG,R->W,2.786NM_000903,TypeII-,CGG->TGG,R->W,2.833NM_001025433,TypeII-,CGG->TGG,R->W,60.9982.0492.75TF2
1669755900rs8053497NM_000903,NQO1NM_001025433,NQO1NM_001025434,NQO1ENST00000379047,ENSG00000181019ENST00000320623,ENSG00000181019ENST00000379046,ENSG00000181019ENST00000439109,ENSG00000181019TFP.CTCFTFP.RAD21CHMMTFP.MAXNAchr16,69750001,69760000,chr16,69820001,69830000,25,Hi-Cchr16,69750001,69760000,chr16,69770001,69780000,31,Hi-Cchr16,69750001,69760000,chr16,70680001,70690000,8,Hi-Cchr16,69750001,69760000,chr16,69500001,69510000,6,Hi-Cchr16,69750001,69760000,chr16,70100001,70110000,8,Hi-CNACep3-primary,37.4738Cup9-primary,1.461Srd1-primary,1.8316Ypr013c-primary,1.4744IRF2,1.6164NANANANANANA0.0090.6230.757GSANA
1669760286rs689460NM_000903,NQO1NM_001025433,NQO1NM_001025434,NQO1ENST00000379047,ENSG00000181019ENST00000320623,ENSG00000181019ENST00000379046,ENSG00000181019ENST00000439109,ENSG00000181019TFP.SIN3ATFP.MAXTFP.HDAC2TFP.E2F1TFP.TBPTFP.TAF1TFP.E2F6TFP.SMARCB1TFP.YY1TFP.ELF1TFP.GATA3TFP.RFX5TFP.SMC3TFP.SMARCC1TFP.MYCTFP.E2F4TFP.TAF7TFP.MXI1TFP.MAFKTFP.CHD2TFP.EP300TFP.GTF2F1TFP.ZEB1TFP.POU2F2TFP.TFAP2CTFP.NFKB1TFP.HNF4GTFP.ELK4
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:22)
HP ID HP Name MP ID MP Name Annotation
HP:0005930Abnormality of epiphysis morphologyMP:0013621decreased internal diameter of femurreduced 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:0000772Abnormality of the ribsMP:0020010decreased bone mineral density of femurreduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
HP:0009465Ulnar deviation of fingerMP:0010178increased number of Howell-Jolly bodiesabnormal presence of basophilic nuclear remnants of condensed DNA (1 to 2 um in diameter) in circulating erythrocytes, typically seen in severe hemolytic anemias or after splenectomy; these inclusions are normally removed by the spleen but will persist in
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:0008921Neonatal short-limb short statureMP:0004830short incisorsreduced length of the set of long teeth that are the most anterior and prominent in the jaw
HP:0000974Hyperextensible skinMP:0010678abnormal skin adnexa morphologyany structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails
HP:0006487Bowing of the long bonesMP:0013621decreased internal diameter of femurreduced 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:0008434Hypoplastic cervical vertebraeMP:0004620cervical vertebral fusionthe union of one or more cervical vertebrae into a single structure
HP:0001387Joint stiffnessMP:0003098decreased tendon stiffnessreduced ability of tendon to maintain tensile strength and load
HP:0001252Muscular hypotoniaMP:0004144hypotoniadecreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness
HP:0003312Abnormal form of the vertebral bodiesMP:0020010decreased bone mineral density of femurreduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
HP:0011800Hypoplasia of midfaceMP:0020010decreased bone mineral density of femurreduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
HP:0001163Abnormality of the metacarpal bonesMP:0012069abnormal horizontal basal cell of olfactory epithelium morphologyany 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:0000175Cleft palateMP:0013550abnormal secondary palate morphology
HP:0009623Proximal placement of thumbMP:0009886failure of palatal shelf elevationthe palatal shelves fail to move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue
HP:0011001Increased bone mineral densityMP:0013630increased bone trabecular spacingincrease in the amount of space between trabeculae in cancellous bone
HP:0001511Intrauterine growth retardationMP:0011109lethality throughout fetal growth and development, 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 the completion of organogenesis and birth (Mus: E14 to approximately E18.5)
HP:0100490Camptodactyly of fingerMP:0020010decreased bone mineral density of femurreduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
HP:0000944Abnormality of the metaphysesMP:0013621decreased internal diameter of femurreduced 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:0009773Symphalangism affecting the phalanges of the handMP:0010728fusion of atlas and occipital bonesunion of elements of the atlas and the bone at the lower, posterior part of the skull into one structure
HP:0000889Abnormality of the clavicleMP:0020010decreased bone mineral density of femurreduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
HP:0002205Recurrent respiratory infectionsMP:0014182decreased respiratory epithelial sodium ion transmembrane transportdecrease in the directed movement of sodium ions from one side of the respiratory epithelial cell membrane to the other
Mapped by homologous gene(Total Items:43)
HP ID HP Name MP ID MP Name Annotation
HP:0001252Muscular hypotoniaMP: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:0002650ScoliosisMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0001385Hip dysplasiaMP:0013293embryonic lethality prior to tooth bud stagedeath prior to the appearance of tooth buds (Mus: E12-E12.5)
HP:0005930Abnormality of epiphysis morphologyMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0009465Ulnar deviation of fingerMP:0013901absent female preputial glandabsence 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:0000396Overfolded helixMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0002205Recurrent respiratory infectionsMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0000592Blue scleraeMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0000347MicrognathiaMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0009773Symphalangism affecting the phalanges of the handMP:0014198absent pituitary infundibular stalkabsence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland
HP:0000316HypertelorismMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0008921Neonatal short-limb short statureMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0000772Abnormality of the ribsMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000889Abnormality of the clavicleMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0002093Respiratory insufficiencyMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0001511Intrauterine growth retardationMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000028CryptorchidismMP: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:0005280Depressed nasal bridgeMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0003042Elbow dislocationMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0001373Joint dislocationMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0006487Bowing of the long bonesMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0100490Camptodactyly of fingerMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0009748Large earlobeMP: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:0000175Cleft palateMP: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:0100761Visceral angiomatosisMP: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:0011001Increased bone mineral densityMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0002983MicromeliaMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0000365Hearing impairmentMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0001163Abnormality of the metacarpal bonesMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0002514Cerebral calcificationMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0003312Abnormal form of the vertebral bodiesMP: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:0000368Low-set, posteriorly rotated earsMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0001387Joint stiffnessMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0009623Proximal placement of thumbMP:0014198absent pituitary infundibular stalkabsence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland
HP:0008434Hypoplastic cervical vertebraeMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000256MacrocephalyMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0011800Hypoplasia of midfaceMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0005692Joint hyperflexibilityMP:0012125decreased bronchoconstrictive responsereduction in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography
HP:0002808KyphosisMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0000974Hyperextensible skinMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0000293Full cheeksMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0000944Abnormality of the metaphysesMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0009381Short fingerMP: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
Disease ID 278
Disease diastrophic dwarfism
Case(Waiting for update.)