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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   prolidase deficiency
  

Disease ID 239
Disease prolidase deficiency
Definition
Rare autosomal recessive disorder of metabolism due to mutations in the prolidase gene. It is characterized by recurrent lower extremity skin ulcers, recurrent infections, and FACIES, often with INTELLECTUAL DISABILITY.
Synonym
deficiencies, imidodipeptidase
deficiencies, prolidase
deficiency of imidodipeptidase
deficiency of imidodipeptidase (disorder)
deficiency of prolidase
deficiency of prolidase (disorder)
deficiency of proline dipeptidase
deficiency of proline dipeptidase (disorder)
deficiency of proline dipeptidase (disorder) [ambiguous]
deficiency, imidodipeptidase
deficiency, prolidase
hyperimidodipeptiduria
hyperimidodipeptiduria due to proline dipeptidase deficiency
hyperimidodipeptiduria due to proline dipeptidase deficiency (disorder)
hyperimidodipeptidurias
imidodipeptidase deficiencies
imidodipeptidase deficiency
iminodipeptiduria
prolidase deficiencies
prolidase deficiency [disease/finding]
prolidase deficiency with hyperimidodipeptiduria
proline dipeptidase deficiency
proline dipeptidase deficiency (disorder)
Orphanet
OMIM
UMLS
C0268532
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:2)
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
5184  |  PEPD  |  CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus
Symbol | Locus(Total Locus:1)
PEPD  |  19q13.11
Disease ID 239
Disease prolidase deficiency
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:60)
HP:0002211  |  White forelock
HP:0000670  |  Carious teeth
HP:0002240  |  Enlarged liver
HP:0006532  |  Pneumonia, recurrent episodes
HP:0000520  |  Proptosis
HP:0003196  |  Short nose
HP:0002715  |  Abnormality of the immune system
HP:0000365  |  Hearing impairment
HP:0001166  |  Arachnodactyly
HP:0000444  |  Polly beak nasal deformity
HP:0000316  |  Increased distance between eye sockets
HP:0006579  |  Neonatal jaundice
HP:0005280  |  Depressed nasal bridge
HP:0012786  |  Recurrent cystitis
HP:0002099  |  Asthma
HP:0002205  |  Recurrent respiratory infections
HP:0010783  |  Erythema
HP:0000963  |  Thin skin
HP:0000967  |  Petechiae
HP:0007598  |  Bilateral single transverse palmar creases
HP:0000347  |  Micrognathia
HP:0001939  |  Laboratory abnormality
HP:0000316  |  Hypertelorism
HP:0200034  |  Papule
HP:0200042  |  Skin ulcer
HP:0001903  |  Anemia
HP:0007473  |  Crusting erythematous dermatitis
HP:0000982  |  Palmoplantar keratoderma
HP:0007489  |  Telangiectases, random body distribution
HP:0000962  |  Hyperkeratosis
HP:0001999  |  Facial dysmorphism
HP:0008065  |  Aplasia/Hypoplasia of the skin
HP:0001263  |  Developmental retardation
HP:0000457  |  Depressed nasal ridge
HP:0000294  |  Low anterior hairline
HP:0005280  |  Flat, nasal bridge
HP:0003272  |  Abnormality of the hip bone
HP:0001999  |  Abnormal facial shape
HP:0002230  |  Generalized hirsutism
HP:0000370  |  Abnormality of the middle ear
HP:0002240  |  Hepatomegaly
HP:0002725  |  Systemic lupus erythematosus
HP:0002857  |  Genu valgum
HP:0007703  |  Abnormality of retinal pigmentation
HP:0001873  |  Low platelet count
HP:0001249  |  Intellectual disability
HP:0000520  |  Anterior bulging of the globe of eye
HP:0002162  |  Low posterior hair line
HP:0001744  |  Splenomegaly
HP:0006528  |  Chronic lung disease
HP:0000505  |  Visual impairment
HP:0000958  |  Dry skin
HP:0000992  |  Cutaneous photosensitivity
HP:0001007  |  Hirsutism
HP:0000989  |  Pruritus
HP:0004349  |  Reduced bone mineral density
HP:0011220  |  Prominent forehead
HP:0000508  |  Drooping upper eyelid
HP:0001231  |  Abnormality of the fingernails
HP:0010669  |  Cheekbone underdevelopment
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:1)
Disease ID 239
Disease prolidase deficiency
Manually Symptom
UMLS  | Name(Total Manually Symptoms:3)
C0085119  |  ulcus cruris
C0037299  |  skin ulcers
C0023223  |  leg ulcers
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:12)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs121917721NA5184PEPDumls:C0268532CLINVARNA0.481900093NAPEPD1933401862CT
rs121917722NA5184PEPDumls:C0268532CLINVARNA0.481900093NAPEPD1933464060CT
rs121917723NA5184PEPDumls:C0268532CLINVARNA0.481900093NAPEPD1933401855CT
rs121917724NA5184PEPDumls:C0268532CLINVARNA0.481900093NAPEPD1933387892CT
rs121917725NA5184PEPDumls:C0268532CLINVARNA0.481900093NAPEPD1933411697GC,A
rs267606943NA5184PEPDumls:C0268532CLINVARNA0.481900093NAPEPD1933464006GA
rs267606944NA5184PEPDumls:C0268532CLINVARNA0.481900093NAPEPD1933388000CT
rs747700126NA5184PEPDumls:C0268532CLINVARNA0.481900093NAPEPD1933463032CA,G
rs757386104NA5184PEPDumls:C0268532CLINVARNA0.481900093NAPEPD1933387465TCC-
rs794728007NA5184PEPDumls:C0268532CLINVARNA0.481900093NAPEPD1933413622GTA-
rs794728008NA5184PEPDumls:C0268532CLINVARNA0.481900093NAPEPD1933463987-TCACGGTGGGCCT
rs797045185NA5184PEPDumls:C0268532CLINVARNA0.481900093NAPEPD1933391344AC
GWASdb Annotation(Total Genotypes:21)
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
1933886354rs7258031NM_000285,PEPDNM_001166056,PEPDNM_001166057,PEPDENST00000244137,ENSG00000124299ENST00000436370,ENSG00000124299ENST00000397032,ENSG00000124299NANAchr19,33880001,33890000,chr17,80930001,80940000,30,Hi-Cchr19,33880001,33890000,chr19,30670001,30680000,5,Hi-Cchr19,33880001,33890000,chr19,34260001,34270000,10,Hi-Cchr19,33880001,33890000,chr19,16060001,16070000,6,Hi-CNAAsg1-DBD-primary,1.3817Met32-primary,1.5163Mig2-primary,2.5412Mig3-primary,2.8432Rpn4-primary,2.4273NANANANANANA0.004-0.942-3.86TF0CNANANANANANA
1933889000rs889140NM_000285,PEPDNM_001166056,PEPDNM_001166057,PEPDENST00000244137,ENSG00000124299ENST00000436370,ENSG00000124299ENST00000397032,ENSG00000124299DRMTFP.CTCFMCV-20NAchr19,33880001,33890000,chr17,80930001,80940000,30,Hi-Cchr19,33880001,33890000,chr19,30670001,30680000,5,Hi-Cchr19,33880001,33890000,chr19,34260001,34270000,10,Hi-Cchr19,33880001,33890000,chr19,16060001,16070000,6,Hi-CNALM209,1.789LM221,7.8333Pax5,2.0963dl_1,2.27Pax4,1.3523NANANANANANA0.000-1.017-3.05C1ANANANA0.620
1933890295rs34910385NM_000285,PEPDNM_001166056,PEPDNM_001166057,PEPDENST00000244137,ENSG00000124299ENST00000436370,ENSG00000124299ENST00000397032,ENSG00000124299NANAchr19,33890001,33900000,chr19,33870001,33880000,25,Hi-CNAEvx2_2645,1.6285Fkh2-primary,1.37Gsh2_3990,2.2496Hoxa11_2218,2.0814Hoxa1_3425,1.6454NANANANANANA0.0020.6732.2R1TNANANANANANANANATranscript
1933893008rs3786897NM_000285,PEPDNM_001166056,PEPDNM_001166057,PEPDENST00000244137,ENSG00000124299ENST00000436370,ENSG00000124299ENST00000397032,ENSG00000124299TFP.CTCFNAchr19,33890001,33900000,chr19,33870001,33880000,25,Hi-CNABas1-primary,1.4193Crx_3485,1.6214Nrg1-primary,2.2428Nrg1-primary,1.2934Six1_0935,2.673NANANANANANA0.0150.8410.546TF0GNANANANANANANANATranscript
1933897478rs3786901NM_000285,PEPDNM_001166056,PEPDNM_001166057,PEPDENST00000244137,ENSG00000124299ENST00000436370,ENSG00000124299ENST00000397032,ENSG00000124299TFP.MYCTFP.CTCFMCV-5NAchr19,33890001,33900000,chr19,33870001,33880000,25,Hi-CNAAsg1-DBD-primary,3.2615Cha4-primary,3.0278Gal4-primary,1.3114Hal9-primary,1.3637Hal9-primary,1.3637NANANANANANA0.002-0.211-1.58TF0CNANANA0.4600.4300.3400.650
1933899065rs731839NM_000285,PEPDNM_001166056,PEPDNM_001166057,PEPDENST00000244137,ENSG00000124299ENST00000436370,ENSG00000124299ENST00000397032,ENSG00000124299NANAchr19,33890001,33900000,chr19,33870001,33880000,25,Hi-CNACphx_3484,1.8527Cutl1_3494,7.7613Fkh1-FL-primary,1.5115Fkh1-FL-primary,1.3756Gat4-primary,3.6774NANANANANANA0.000-0.379-1.73R5ANANANA0.5900.4500.6100.6400.660Transcript
1933906123rs4805885NM_000285,PEPDNM_001166056,PEPDNM_001166057,PEPDENST00000244137,ENSG00000124299ENST00000436370,ENSG00000124299ENST00000397032,ENSG00000124299NANAchr19,33900001,33910000,chr19,33720001,33730000,6,Hi-CNALM35,6.4881LM70,4.7552LM70,4.6808LM129,1.3916LM129,11.4694NANANANANANA0.000-2.043-5.23R5CNANANANANANANANATranscript
1933909710rs8182584NM_000285,PEPDNM_001166056,PEPDNM_001166057,PEPDENST00000244137,ENSG00000124299ENST00000436370,ENSG00000124299ENST00000397032,ENSG00000124299MCV-2DRMNAchr19,33900001,33910000,chr19,33720001,33730000,6,Hi-CNAAft1-primary,6.4613Asg1-DBD-primary,14.8516Met32-primary,2.074Pbf2-primary,2.4509Pbf2-primary,46.26NANANANANANA0.000-1.330-4.46R3GNANANANANANANANA
1933909851rs8182579NM_000285,PEPDNM_001166056,PEPDNM_001166057,PEPDENST00000244137,ENSG00000124299ENST00000436370,ENSG00000124299ENST00000397032,ENSG00000124299DRMMCV-1NAchr19,33900001,33910000,chr19,33720001,33730000,6,Hi-CNAEcm22-primary,23.8976Leu3-primary,1.2658Oaf1-DBD-primary,3.0569Stp2-primary,1.5825Tbs1-primary,1.6251NANANANANANA0.000-1.169-3.67TF0CNANANANANANANANA
1933914285rs10500265NM_000285,PEPDNM_001166056,PEPDNM_001166057,PEPDENST00000244137,ENSG00000124299ENST00000436370,ENSG00000124299ENST00000397032,ENSG00000124299NANAchr19,33910001,33920000,chr19,33930001,33940000,29,Hi-Cchr19,33910001,33920000,chr19,33720001,33730000,7,Hi-Cchr19,33910001,33920000,chr19,33340001,33350000,9,Hi-CNABas1-primary,1.5347Cbf1-primary,2.3192Cbf1-primary,1.9792Ceh-22,2.2853Nkx2-4_3074,2.8313NANANANANANA0.0010.4001.1TF1CNANANANANANANA
1933914944rs4362488NM_000285,PEPDNM_001166056,PEPDNM_001166057,PEPDENST00000244137,ENSG00000124299ENST00000436370,ENSG00000124299ENST00000397032,ENSG00000124299NANAchr19,33910001,33920000,chr19,33930001,33940000,29,Hi-Cchr19,33910001,33920000,chr19,33720001,33730000,7,Hi-Cchr19,33910001,33920000,chr19,33340001,33350000,9,Hi-CNALM7,7.5128LM23,21.5245LM154,1.9742Broad-complex_3,22.7955Pax5,4.042NANANANANANA0.000-0.366-1.91R2GNANANANANANANA
1933930229rs11670528NM_000285,PEPDNM_001166056,PEPDNM_001166057,PEPDENST00000244137,ENSG00000124299ENST00000436370,ENSG00000124299ENST00000397032,ENSG00000124299MCV-6NAchr19,33930001,33940000,chr20,2970001,2980000,26,Hi-Cchr19,33930001,33940000,chr19,33910001,33920000,29,Hi-Cchr19,33930001,33940000,chr19,35270001,35280000,5,Hi-Cchr19,33930001,33940000,chr2,67810001,67820000,7,Hi-Cchr19,33930001,33940000,chr19,33720001,33730000,6,Hi-Cchr19,33930001,33940000,chr18,4220001,4230000,8,Hi-CNALM4,2.2039LM4,1.5992LM9,1.5443LM133,7.5226LM138,3.6381NANANANANANA0.1141.5262.18TF0GNANANANA
1933946893rs1477336NM_000285,PEPDNM_001166056,PEPDNM_001166057,PEPDENST00000244137,ENSG00000124299ENST00000436370,ENSG00000124299ENST00000397032,ENSG00000124299NANAchr19,33940001,33950000,chr10,135380001,135390000,5,Hi-Cchr19,33940001,33950000,chr16,50620001,50630000,10,Hi-CNAAsg1-DBD-primary,1.8059Tye7-primary,1.2858Tye7-primary,1.4225LM155,3.2051LM204,5.3583NANANANANANA0.000-0.489-2.53R3CNANANANANANANANA
1933950277rs17761012NM_000285,PEPDNM_001166056,PEPDNM_001166057,PEPDENST00000244137,ENSG00000124299ENST00000436370,ENSG00000124299ENST00000397032,ENSG00000124299MCV-1NANANALM106,38.3963LM106,2.0291LM156,16.7428GGAMTNNNNNTCCY,1.6379GAANYNYGACNY,1.4609NANANANANANA0.9990.2171.62L1CNANANANANANANANATranscript
1933989245rs33825NM_000285,PEPDNM_001166056,PEPDNM_001166057,PEPDENST00000244137,ENSG00000124299ENST00000436370,ENSG00000124299ENST00000397032,ENSG00000124299MCV-1NAchr19,33980001,33990000,chr1,150500001,150510000,4,Hi-Cchr19,33980001,33990000,chr19,33630001,33640000,8,Hi-CNADmbx1_2277,2.1132Evx2_2645,1.6189Leu3-primary,92.6126Pou6f1_1731,7.4019Pou6f1_3733,12.8688NANANANANANA0.000-0.424-1.56R3GNANANA0.1500.3000.0800.0300.150
1933990439rs33824NM_000285,PEPDNM_001166056,PEPDNM_001166057,PEPDENST00000244137,ENSG00000124299ENST00000436370,ENSG00000124299ENST00000397032,ENSG00000124299NANAchr19,33990001,34000000,chr19,37600001,37610000,37,Hi-Cchr19,33990001,34000000,chr12,124940001,124950000,9,Hi-CNAAft1-primary,2.3593Aro80-primary,1.4486Mig2-primary,2.5234Put3-primary,2.3229Tec1-primary,11.3963NANANANANANA0.000-2.916-4.57TF0TNANANANANANANANA
1934000725rs33823NM_000285,PEPDNM_001166056,PEPDNM_001166057,PEPDENST00000244137,ENSG00000124299ENST00000436370,ENSG00000124299ENST00000397032,ENSG00000124299TFP.MYCNAchr19,34000001,34010000,chr19,34020001,34030000,30,Hi-Cchr19,34000001,34010000,chr19,22310001,22320000,5,Hi-Cchr19,34000001,34010000,chr4,32520001,32530000,6,Hi-Cchr19,34000001,34010000,chr8,21490001,21500000,11,Hi-Cchr19,34000001,34010000,chr4,33790001,33800000,6,Hi-CNAGal4-primary,1.3118Gal4-primary,1.5488Gal4-primary,32.5484Gal4-primary,34.162Gzf3-primary,1.4441NANANANANANA0.005-0.174-0.542TF2TNANANANANA
1934006380rs3786922NM_000285,PEPDNM_001166056,PEPDNM_001166057,PEPDENST00000244137,ENSG00000124299ENST00000436370,ENSG00000124299ENST00000397032,ENSG00000124299MCV-17NAchr19,34000001,34010000,chr19,34020001,34030000,30,Hi-Cchr19,34000001,34010000,chr19,22310001,22320000,5,Hi-Cchr19,34000001,34010000,chr4,32520001,32530000,6,Hi-Cchr19,34000001,34010000,chr8,21490001,21500000,11,Hi-Cchr19,34000001,34010000,chr4,33790001,33800000,6,Hi-CNALM156,9.174GGCNRNWCTTYS,1.8872HNF-3beta,1.3482Pax-5,1.5682XFD-1,1.6225NANANANANANA0.000-0.318-1.65R5TNANANANANA
1934009392rs153508NM_000285,PEPDNM_001166056,PEPDNM_001166057,PEPDENST00000244137,ENSG00000124299ENST00000436370,ENSG00000124299ENST00000397032,ENSG00000124299NANAchr19,34000001,34010000,chr19,34020001,34030000,30,Hi-Cchr19,34000001,34010000,chr19,22310001,22320000,5,Hi-Cchr19,34000001,34010000,chr4,32520001,32530000,6,Hi-Cchr19,34000001,34010000,chr8,21490001,21500000,11,Hi-Cchr19,34000001,34010000,chr4,33790001,33800000,6,Hi-CNAAft1-primary,1.3693Asg1-DBD-primary,1.7764Mbp1-primary,29.1682Nrg1-primary,1.3007PFF0200c,3.2211NANANANANANA0.0131.1362.68TF0CNANANANANA
1934010189rs10415555NM_000285,PEPDNM_001166056,PEPDNM_001166057,PEPDENST00000244137,ENSG00000124299ENST00000436370,ENSG00000124299ENST00000397032,ENSG00000124299MCV-2NANANALM67,1.7616LM115,8.3116LM147,3.0736LM179,5.1917Staf,1.5604NANANANANANA0.000-0.080-0.157L1ANANANANANANANANATranscript
1934010289rs33840NM_000285,PEPDNM_001166056,PEPDNM_001166057,PEPDENST00000244137,ENSG00000124299ENST00000436370,ENSG00000124299ENST00000397032,ENSG00000124299MCV-2NANANALM2,2.6653LM7,1.8039LM30,1.5407LM82,1.3407LM89,2.2824NANANANANANA0.000-2.853-6.52TF0CNANANANANANANANATranscript
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:25)
HP ID HP Name MP ID MP Name Annotation
HP:0000670Carious teethMP:0004033supernumerary teethoccurrence of more than the usual number of teeth
HP:0006528Chronic lung diseaseMP:0010895increased lung complianceincreased ability of the lung to distend in response to pressure without disruption, usually expressed as the unit volume of change in the lung per unit of pressure
HP:0000457Depressed nasal ridgeMP:0004872absent nasal septumabsence of the structure that separates the two nasal cavities
HP:0003272Abnormality of the hip boneMP:0009536abnormal interstitial cell of Cajal morphologyany structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which
HP:0003196Short noseMP:0002233abnormal nose morphologyany structural anomaly of the organ that is specialized for smell and is part of the respiratory system
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:0002725Systemic lupus erythematosusMP:0004801increased susceptibility to systemic lupus erythematosusgreater likelihood that an organism will develop inflammatory connective tissue symptoms characteristic of lupus including skin rash, arthritis and inflammation of different organs
HP:0002715Abnormality of the immune systemMP:0009403increased variability of skeletal muscle fiber sizegreater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls
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
HP:0001999Abnormal facial shapeMP: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:0000992Cutaneous photosensitivityMP:0001202skin photosensitivityabnormally heightened reactivity of the skin to sunlight
HP:0001263Global developmental delayMP:0002084abnormal developmental patterningabnormal systematic arrangement of the developing body along an axis
HP:0000294Low anterior hairlineMP:0004784abnormal anterior cardinal vein morphologyany structural anomaly of the two paired veins draining the cephalic part of the body
HP:0000958Dry 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:0007703Abnormality of retinal pigmentationMP:0011665d-loop transposition of the great arteriescomplete 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:0000370Abnormality of the middle earMP:0010465aberrant origin of the right subclavian arterythe right subclavian artery arises from an atypical location on the aortic arch or the proximal descending aorta
HP:0000963Thin 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:0008065Aplasia/Hypoplasia of the skinMP: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:0001231Abnormality of the fingernailsMP: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:0004349Reduced bone mineral densityMP:0013630increased bone trabecular spacingincrease in the amount of space between trabeculae in cancellous bone
HP:0006532Recurrent pneumoniaMP:0001862interstitial pneumoniaany of a group of inflammatory and fibrotic disorders of the lower respiratory tract, primarily affecting the supporting framework of the lung, including the alveolar wall, but may also involve the small airways and blood vessels of the lung parenchyma
HP:0006579Prolonged neonatal jaundiceMP:0011087neonatal lethality, complete penetrancedeath of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)
HP:0000444Convex nasal ridgeMP:0004471short nasal bonereduced length of either of two rectangular bone plates forming the bridge of the nose
HP:0010669Hypoplasia of the zygomatic boneMP:0011205excessive folding of visceral yolk sacthe appearance of wrinkles or folds on the surface of the visceral yolk sac
HP:0001939Abnormality of metabolism/homeostasisMP:0020010decreased bone mineral density of femurreduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
Mapped by homologous gene(Total Items:54)
HP ID HP Name MP ID MP Name Annotation
HP:0007598Bilateral single transverse palmar creasesMP:0012279wide sternuman increase in the width of the long flat bone of the chest that articulates with the clavicle and first seven rib pairs
HP:0002162Low posterior hairlineMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0001007HirsutismMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0000508PtosisMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0010783ErythemaMP: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:0000370Abnormality of the middle earMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0002205Recurrent respiratory infectionsMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0000982Palmoplantar keratodermaMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0002725Systemic lupus erythematosusMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0003196Short noseMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0002240HepatomegalyMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000347MicrognathiaMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0001903AnemiaMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0001744SplenomegalyMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0000316HypertelorismMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0007473Crusting erythematous dermatitisMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0000992Cutaneous photosensitivityMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0001231Abnormality of the fingernailsMP: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:0002857Genu valgumMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0001873ThrombocytopeniaMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000967PetechiaeMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0000670Carious teethMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0001999Abnormal facial shapeMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0000457Depressed nasal ridgeMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0000444Convex nasal ridgeMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0006532Recurrent pneumoniaMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0002099AsthmaMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0002230Generalized hirsutismMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0002211White forelockMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0000963Thin skinMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0001263Global developmental delayMP: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:0000520ProptosisMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0001249Intellectual disabilityMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0001939Abnormality of metabolism/homeostasisMP: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:0200042Skin ulcerMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000962HyperkeratosisMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0006528Chronic lung diseaseMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0011220Prominent foreheadMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0000294Low anterior hairlineMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0007703Abnormality of retinal pigmentationMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0200034PapuleMP:0013745abnormal eyelid margin morphologyany structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium
HP:0001166ArachnodactylyMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0006579Prolonged neonatal jaundiceMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0007489Diffuse telangiectasiaMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0000958Dry skinMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0000989PruritusMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0008065Aplasia/Hypoplasia of the skinMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0004349Reduced bone mineral densityMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0002715Abnormality of the immune systemMP:0014125decreased amylin secretionreduction in the production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiety a
HP:0010669Hypoplasia of the zygomatic boneMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0000505Visual impairmentMP: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:0003272Abnormality of the hip boneMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
Disease ID 239
Disease prolidase deficiency
Case(Waiting for update.)