eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| xeroderma pigmentosum | ||||
| Disease ID | 327 |
|---|---|
| Disease | xeroderma pigmentosum |
| Definition | A rare, pigmentary, and atrophic autosomal recessive disease. It is manifested as an extreme photosensitivity to ULTRAVIOLET RAYS as the result of a deficiency in the enzyme that permits excisional repair of ultraviolet-damaged DNA. |
| Synonym | angioma pigmentosum atrophicum atrophoderma pigmentosum kaposi dermatosis kaposi dis kaposi disease kaposi's disease kaposis dis kaposis disease melanosis lenticularis progressiva pigmented epitheliomatosis pigmentosum xeroderma xeroderma of kaposi xeroderma pigmentosum (disorder) xeroderma pigmentosum [disease/finding] xeroderma pigmentosum syndrome xeroderma pigmentosum, nos xp - xeroderma pigmentosum |
| Orphanet | |
| DOID | |
| ICD10 | |
| UMLS | C0043346 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:17) C0025202 | melanoma | 4 C0007137 | squamous cell carcinoma | 3 C0022572 | keratoacanthoma | 3 C0009207 | cockayne syndrome | 3 C0007117 | basal cell carcinoma | 2 C0007114 | skin cancer | 2 C1261473 | soft tissue sarcoma | 1 C0023418 | leukemia | 1 C0023462 | megakaryoblastic leukemia | 1 C0023462 | acute megakaryoblastic leukemia | 1 C0553723 | cutaneous squamous cell carcinoma | 1 C0026764 | multiple myeloma | 1 C0025202 | melanomas | 1 C1261473 | sarcoma | 1 C0007114 | skin cancers | 1 C0013421 | dystonia | 1 C0007137 | squamous cell carcinomas | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:9) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:169) 1244 | ABCC2 | 1.947 | DISEASES 60 | ACTB | 1.781 | DISEASES 55107 | ANO1 | 1.23 | DISEASES 353 | APRT | 3.233 | DISEASES 84364 | ARFGAP2 | 2.298 | DISEASES 415 | ARSE | 1.515 | DISEASES 10973 | ASCC3 | 1.273 | DISEASES 545 | ATR | 2.268 | DISEASES 84126 | ATRIP | 1.102 | DISEASES 546 | ATRX | 3.167 | DISEASES 10286 | BCAS2 | 1.648 | DISEASES 672 | BRCA1 | 3.278 | DISEASES 675 | BRCA2 | 1.99 | DISEASES 10438 | C1D | 1.505 | DISEASES 158401 | C9orf84 | 3.15 | DISEASES 978 | CDA | 2.524 | DISEASES 988 | CDC5L | 1.87 | DISEASES 1029 | CDKN2A | 1.908 | DISEASES 1069 | CETN2 | 4.433 | DISEASES 1111 | CHEK1 | 2.345 | DISEASES 11200 | CHEK2 | 2.041 | DISEASES 9391 | CIAO1 | 2.883 | DISEASES 10256 | CNKSR1 | 1.666 | DISEASES 54875 | CNTLN | 1.759 | DISEASES 1373 | CPS1 | 1.162 | DISEASES 8451 | CUL4A | 4.464 | DISEASES 8450 | CUL4B | 1.732 | DISEASES 55280 | CWF19L1 | 1.898 | DISEASES 1543 | CYP1A1 | 3.695 | DISEASES 1565 | CYP2D6 | 1.622 | DISEASES 9937 | DCLRE1A | 1.02 | DISEASES 8528 | DDO | 1.409 | DISEASES 1663 | DDX11 | 4.188 | DISEASES 9188 | DDX21 | 2.314 | DISEASES 1719 | DHFR | 2.641 | DISEASES 51514 | DTL | 1.282 | DISEASES 1869 | E2F1 | 2.052 | DISEASES 146956 | EME1 | 4.483 | DISEASES 284131 | ENDOV | 5.024 | DISEASES 56943 | ENY2 | 1.412 | DISEASES 2068 | ERCC2 | 6.956 | DISEASES 2073 | ERCC5 | 6.053 | DISEASES 2074 | ERCC6 | 2.605 | DISEASES 51647 | FAM96B | 3.818 | DISEASES 2175 | FANCA | 2.728 | DISEASES 2188 | FANCF | 1.274 | DISEASES 2242 | FES | 2.813 | DISEASES 4303 | FOXO4 | 1.68 | DISEASES 23732 | FRRS1L | 1.324 | DISEASES 2524 | FUT2 | 1.192 | DISEASES 1647 | GADD45A | 2.567 | DISEASES 23464 | GCAT | 1.017 | DISEASES 2737 | GLI3 | 2.802 | DISEASES 2938 | GSTA1 | 2.26 | DISEASES 2950 | GSTP1 | 4.562 | DISEASES 2959 | GTF2B | 3.751 | DISEASES 2961 | GTF2E2 | 2.257 | DISEASES 2963 | GTF2F2 | 2.964 | DISEASES 2967 | GTF2H3 | 4.236 | DISEASES 404672 | GTF2H5 | 5.376 | DISEASES 2971 | GTF3A | 1.45 | DISEASES 3005 | H1F0 | 2.109 | DISEASES 3014 | H2AFX | 3.584 | DISEASES 8337 | HIST2H2AA3 | 2.445 | DISEASES 8338 | HIST2H2AC | 2.445 | DISEASES 10989 | IMMT | 3.486 | DISEASES 54556 | ING3 | 1.007 | DISEASES 3725 | JUN | 1.955 | DISEASES 10524 | KAT5 | 1.142 | DISEASES 3981 | LIG4 | 2.227 | DISEASES 3993 | LLGL2 | 1.483 | DISEASES 4157 | MC1R | 1.718 | DISEASES 4193 | MDM2 | 2.136 | DISEASES 9969 | MED13 | 1.313 | DISEASES 79157 | MFSD11 | 2.839 | DISEASES 8972 | MGAM | 1.748 | DISEASES 27030 | MLH3 | 1.425 | DISEASES 64210 | MMS19 | 4.364 | DISEASES 4524 | MTHFR | 3.204 | DISEASES 4595 | MUTYH | 2.037 | DISEASES 4609 | MYC | 2.235 | DISEASES 79661 | NEIL1 | 2.205 | DISEASES 4779 | NFE2L1 | 1.111 | DISEASES 27035 | NOX1 | 1.444 | DISEASES 10360 | NPM3 | 1.659 | DISEASES 28989 | NTMT1 | 2.052 | DISEASES 4521 | NUDT1 | 2.042 | DISEASES 54726 | OTUD4 | 2.021 | DISEASES 152559 | PAQR3 | 2.151 | DISEASES 142 | PARP1 | 2.408 | DISEASES 84875 | PARP10 | 1.889 | DISEASES 441531 | PGAM4 | 1.293 | DISEASES 5225 | PGC | 1.044 | DISEASES 9749 | PHACTR2 | 2.186 | DISEASES 26227 | PHGDH | 2.909 | DISEASES 5356 | PLRG1 | 2.079 | DISEASES 5378 | PMS1 | 1.906 | DISEASES 5425 | POLD2 | 1.573 | DISEASES 5429 | POLH | 6.14 | DISEASES 11201 | POLI | 3.185 | DISEASES 353497 | POLN | 4.512 | DISEASES 25913 | POT1 | 1.117 | DISEASES 10450 | PPIE | 1.451 | DISEASES 10848 | PPP1R13L | 2.49 | DISEASES 442865 | PRYP3 | 1.697 | DISEASES 5688 | PSMA7 | 1.401 | DISEASES 5710 | PSMD4 | 1.704 | DISEASES 5727 | PTCH1 | 2.885 | DISEASES 22827 | PUF60 | 3.32 | DISEASES 90780 | PYGO2 | 1.124 | DISEASES 5810 | RAD1 | 1.122 | DISEASES 5886 | RAD23A | 4.273 | DISEASES 5887 | RAD23B | 6.194 | DISEASES 5888 | RAD51 | 4.461 | DISEASES 5890 | RAD51B | 1.289 | DISEASES 5889 | RAD51C | 1.049 | DISEASES 5892 | RAD51D | 2.058 | DISEASES 5893 | RAD52 | 3.377 | DISEASES 25788 | RAD54B | 1.191 | DISEASES 8438 | RAD54L | 2.594 | DISEASES 5965 | RECQL | 2.79 | DISEASES 29803 | REPIN1 | 1.163 | DISEASES 5980 | REV3L | 2.008 | DISEASES 6025 | RN5S1@ | 2.458 | DISEASES 8635 | RNASET2 | 1.256 | DISEASES 6045 | RNF2 | 3.295 | DISEASES 6118 | RPA2 | 3.341 | DISEASES 6188 | RPS3 | 1.958 | DISEASES 51750 | RTEL1 | 3.21 | DISEASES 7884 | SLBP | 1.402 | DISEASES 10166 | SLC25A15 | 3.165 | DISEASES 23428 | SLC7A8 | 1.288 | DISEASES 79008 | SLX1B | 4.536 | DISEASES 128710 | SLX4IP | 2.679 | DISEASES 23137 | SMC5 | 1.589 | DISEASES 23049 | SMG1 | 1.951 | DISEASES 26771 | SNORD102 | 2.146 | DISEASES 6648 | SOD2 | 1.64 | DISEASES 6667 | SP1 | 1.261 | DISEASES 200162 | SPAG17 | 2.119 | DISEASES 6709 | SPTAN1 | 1.288 | DISEASES 6613 | SUMO2 | 1.233 | DISEASES 6612 | SUMO3 | 1.262 | DISEASES 6847 | SYCP1 | 1.327 | DISEASES 6887 | TAL2 | 1.345 | DISEASES 55775 | TDP1 | 2.971 | DISEASES 51567 | TDP2 | 1.001 | DISEASES 7150 | TOP1 | 1.844 | DISEASES 7153 | TOP2A | 1.208 | DISEASES 7156 | TOP3A | 1.417 | DISEASES 7158 | TP53BP1 | 1.124 | DISEASES 8295 | TRRAP | 1.851 | DISEASES 7272 | TTK | 1.285 | DISEASES 7284 | TUFM | 1.246 | DISEASES 7329 | UBE2I | 1.622 | DISEASES 85015 | USP45 | 2.479 | DISEASES 7405 | UVRAG | 2.231 | DISEASES 51741 | WWOX | 2.788 | DISEASES 56949 | XAB2 | 3.789 | DISEASES 7507 | XPA | 8.269 | DISEASES 7516 | XRCC2 | 3.578 | DISEASES 7517 | XRCC3 | 6.624 | DISEASES 7518 | XRCC4 | 3.467 | DISEASES 7520 | XRCC5 | 3.345 | DISEASES 4904 | YBX1 | 1.201 | DISEASES 339487 | ZBTB8OS | 2.037 | DISEASES 55906 | ZC4H2 | 1.491 | DISEASES 10269 | ZMPSTE24 | 1.235 | DISEASES 91603 | ZNF830 | 2.643 | DISEASES |
| Locus | Symbol | Locus(Total Locus:7) |
| Disease ID | 327 |
|---|---|
| Disease | xeroderma pigmentosum |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:59) HP:0012740 | Papilloma HP:0000028 | Cryptorchidism HP:0012733 | Macule HP:0000518 | Cataract HP:0001480 | Freckling HP:0012378 | Fatigue HP:0004322 | Short stature HP:0100543 | Cognitive impairment HP:0001059 | Pterygium HP:0000365 | Hearing impairment HP:0100585 | Telangiectasia of the skin HP:0001009 | Telangiectasia HP:0008734 | Decreased testicular size HP:0010649 | Flat nasal alae HP:0002376 | Developmental regression HP:0000135 | Hypogonadism HP:0010783 | Erythema HP:0000963 | Thin skin HP:0001257 | Spasticity HP:0002829 | Arthralgia HP:0001029 | Poikiloderma HP:0001251 | Ataxia HP:0001053 | Hypopigmented skin patches HP:0000486 | Strabismus HP:0009830 | Peripheral neuropathy HP:0000164 | Abnormality of the teeth HP:0002120 | Cerebral cortical atrophy HP:0001315 | Reduced tendon reflexes HP:0000407 | Sensorineural hearing impairment HP:0002861 | Melanoma HP:0002353 | EEG abnormality HP:0000962 | Hyperkeratosis HP:0001250 | Seizures HP:0002071 | Abnormality of extrapyramidal motor function HP:0000524 | Conjunctival telangiectasia HP:0002664 | Neoplasm HP:0000656 | Ectropion HP:0000252 | Microcephaly HP:0003355 | Aminoaciduria HP:0000498 | Blepharitis HP:0001945 | Fever HP:0001508 | Failure to thrive HP:0000648 | Optic atrophy HP:0000491 | Keratitis HP:0004493 | Craniofacial hyperostosis HP:0000995 | Melanocytic nevus HP:0100012 | Neoplasm of the eye HP:0001596 | Alopecia HP:0000958 | Dry skin HP:0004334 | Dermal atrophy HP:0000992 | Cutaneous photosensitivity HP:0002750 | Delayed skeletal maturation HP:0009755 | Ankyloblepharon HP:0000613 | Photophobia HP:0000621 | Entropion HP:0001034 | Hypermelanotic macule HP:0001072 | Thickened skin HP:0006887 | Intellectual disability, progressive HP:0007759 | Opacification of the corneal stroma |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:18) HP:0002861 | Melanoma | 4 HP:0030731 | Carcinoma | 3 HP:0002860 | Squamous cell carcinoma | 3 HP:0002671 | Basalioma | 2 HP:0000992 | Skin photosensitivity | 2 HP:0030448 | Soft tissue sarcoma | 1 HP:0001909 | Leukemia | 1 HP:0001332 | Dystonia | 1 HP:0100242 | Sarcoma | 1 HP:0012049 | Spasmodic dysphonia | 1 HP:0003287 | Abnormality of mitochondrial metabolism | 1 HP:0010636 | Schizencephaly | 1 HP:0200058 | Angiosarcoma | 1 HP:0001022 | Achromasia | 1 HP:0008069 | Neoplasm of the skin | 1 HP:0007957 | Corneal clouding | 1 HP:0002664 | Neoplasia | 1 HP:0006775 | Multiple myeloma | 1 |
| Disease ID | 327 |
|---|---|
| Disease | xeroderma pigmentosum |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (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 |
| rs121913049 | 20221251 | 2072 | ERCC4 | umls:C0043346 | BeFree | In an attempt to determine how mutations in XPF can lead to such diverse symptoms, the effects of a progeria-causing mutation (XPF(R153P)) were compared to an XP-causing mutation (XPF(R799W)) in vitro and in vivo. | 0.003257302 | 2010 | ERCC4 | 16 | 13947991 | C | T |
| rs121913050 | 20221251 | 2072 | ERCC4 | umls:C0043346 | BeFree | In an attempt to determine how mutations in XPF can lead to such diverse symptoms, the effects of a progeria-causing mutation (XPF(R153P)) were compared to an XP-causing mutation (XPF(R799W)) in vitro and in vivo. | 0.003257302 | 2010 | ERCC4;LOC105371093 | 16 | 13926630 | G | A,C |
| rs13181 | 16880786 | 2068 | ERCC2 | umls:C0043346 | BeFree | Single nucleotide polymorphisms in xeroderma pigmentosum complementation groups C (Lys939Gln, A/C), D (XPD; Lys751Gln, A/C), and G (Asp1104His, G/C), and X-ray repair cross-complementing groups 1 (XRCC1; Arg399Gln, G/A) and 3 (Thr241Met, T/C) genes were genotyped. | 0.034718272 | 2006 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 16880786 | 7515 | XRCC1 | umls:C0043346 | BeFree | Single nucleotide polymorphisms in xeroderma pigmentosum complementation groups C (Lys939Gln, A/C), D (XPD; Lys751Gln, A/C), and G (Asp1104His, G/C), and X-ray repair cross-complementing groups 1 (XRCC1; Arg399Gln, G/A) and 3 (Thr241Met, T/C) genes were genotyped. | 0.004267125 | 2006 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs201838059 | 18809580 | 4968 | OGG1 | umls:C0043346 | BeFree | In an effort to understand the severity of XP-C phenotypes, we also demonstrated that single mutations in XPC perturb other repair processes, such as base excision repair (e.g., the P334H mutation prevents the stimulation of Ogg1 glycosylase because it thwarts the interaction between XPC and Ogg1), thereby leading to a deeper understanding of the molecular repair defect of the XP-C patients. | 0.000271442 | 2008 | OGG1;CAMK1 | 3 | 9757758 | T | G |
| rs201838059 | 18809580 | 7508 | XPC | umls:C0043346 | BeFree | In an effort to understand the severity of XP-C phenotypes, we also demonstrated that single mutations in XPC perturb other repair processes, such as base excision repair (e.g., the P334H mutation prevents the stimulation of Ogg1 glycosylase because it thwarts the interaction between XPC and Ogg1), thereby leading to a deeper understanding of the molecular repair defect of the XP-C patients. | 0.021493566 | 2008 | OGG1;CAMK1 | 3 | 9757758 | T | G |
| rs25487 | 16880786 | 2068 | ERCC2 | umls:C0043346 | BeFree | Single nucleotide polymorphisms in xeroderma pigmentosum complementation groups C (Lys939Gln, A/C), D (XPD; Lys751Gln, A/C), and G (Asp1104His, G/C), and X-ray repair cross-complementing groups 1 (XRCC1; Arg399Gln, G/A) and 3 (Thr241Met, T/C) genes were genotyped. | 0.034718272 | 2006 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 16880786 | 7515 | XRCC1 | umls:C0043346 | BeFree | Single nucleotide polymorphisms in xeroderma pigmentosum complementation groups C (Lys939Gln, A/C), D (XPD; Lys751Gln, A/C), and G (Asp1104His, G/C), and X-ray repair cross-complementing groups 1 (XRCC1; Arg399Gln, G/A) and 3 (Thr241Met, T/C) genes were genotyped. | 0.004267125 | 2006 | XRCC1 | 19 | 43551574 | T | C |
| rs386493716 | 16880786 | 7515 | XRCC1 | umls:C0043346 | BeFree | Single nucleotide polymorphisms in xeroderma pigmentosum complementation groups C (Lys939Gln, A/C), D (XPD; Lys751Gln, A/C), and G (Asp1104His, G/C), and X-ray repair cross-complementing groups 1 (XRCC1; Arg399Gln, G/A) and 3 (Thr241Met, T/C) genes were genotyped. | 0.004267125 | 2006 | NA | NA | NA | NA | NA |
| rs386493716 | 16880786 | 2068 | ERCC2 | umls:C0043346 | BeFree | Single nucleotide polymorphisms in xeroderma pigmentosum complementation groups C (Lys939Gln, A/C), D (XPD; Lys751Gln, A/C), and G (Asp1104His, G/C), and X-ray repair cross-complementing groups 1 (XRCC1; Arg399Gln, G/A) and 3 (Thr241Met, T/C) genes were genotyped. | 0.034718272 | 2006 | NA | NA | NA | NA | NA |
| rs74737358 | 18809580 | 4968 | OGG1 | umls:C0043346 | BeFree | In an effort to understand the severity of XP-C phenotypes, we also demonstrated that single mutations in XPC perturb other repair processes, such as base excision repair (e.g., the P334H mutation prevents the stimulation of Ogg1 glycosylase because it thwarts the interaction between XPC and Ogg1), thereby leading to a deeper understanding of the molecular repair defect of the XP-C patients. | 0.000271442 | 2008 | XPC | 3 | 14158882 | G | A,C,T |
| rs74737358 | 18809580 | 7508 | XPC | umls:C0043346 | BeFree | In an effort to understand the severity of XP-C phenotypes, we also demonstrated that single mutations in XPC perturb other repair processes, such as base excision repair (e.g., the P334H mutation prevents the stimulation of Ogg1 glycosylase because it thwarts the interaction between XPC and Ogg1), thereby leading to a deeper understanding of the molecular repair defect of the XP-C patients. | 0.021493566 | 2008 | XPC | 3 | 14158882 | G | A,C,T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:17) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001072 | Thickened skin | MP:0009932 | skin fibrosis | invasion of fibrous connective tissue into the skin, often resulting from inflammation or injury |
| HP:0000963 | Thin skin | MP:0010678 | abnormal skin adnexa morphology | any 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:0008734 | Decreased testicular size | MP:0003205 | testicular atrophy | acquired diminution of the size of the testis associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal cha |
| HP:0007759 | Opacification of the corneal stroma | MP:0012129 | failure of blastocyst formation | inability to form a blastocyst from a solid ball of cells known as a morula |
| HP:0000992 | Cutaneous photosensitivity | MP:0001202 | skin photosensitivity | abnormally heightened reactivity of the skin to sunlight |
| HP:0000407 | Sensorineural hearing impairment | MP:0006330 | syndromic hearing impairment | hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms |
| HP:0006887 | Intellectual disability, progressive | MP:0000748 | progressive muscle weakness | increasing loss of muscle strength over time |
| HP:0002120 | Cerebral cortical atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0001508 | Failure to thrive | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| HP:0000648 | Optic atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0001053 | Hypopigmented skin patches | MP:0004947 | skin inflammation | local accumulation of fluid, plasma proteins, and leukocytes in the skin |
| HP:0004334 | Dermal atrophy | MP:0011346 | renal tubule atrophy | acquired diminution of the size of the loops of Henle, the proximal convoluted tubule or the distal convoluted tubule associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, |
| HP:0000164 | Abnormality of the teeth | MP:0010382 | abnormal dosage compensation, by inactivation of X chromosome | anomaly in the process of compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex |
| HP:0000958 | Dry skin | MP:0010678 | abnormal skin adnexa morphology | any 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:0100585 | Telangiectasia of the skin | MP:0011022 | abnormal circadian regulation of systemic arterial blood pressure | any anomaly in the process in which an organism modulates its blood pressure at different values with a regularity of approximately 24 hours |
| HP:0002071 | Abnormality of extrapyramidal motor function | MP:0009403 | increased variability of skeletal muscle fiber size | greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls |
| HP:0002750 | Delayed skeletal maturation | MP:0003379 | absent sexual maturation | failure to initiate pubertal changes that result in achievement of full sexual capacity |
Mapped by homologous gene(Total Items:57) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001945 | Fever | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002664 | Neoplasm | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000164 | Abnormality of the teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002120 | Cerebral cortical atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0004493 | Craniofacial hyperostosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001250 | Seizures | 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:0010783 | Erythema | MP:0013781 | abnormal mammary gland luminal epithelium morphology | any 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:0000486 | Strabismus | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0009830 | Peripheral neuropathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002353 | EEG abnormality | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0004334 | Dermal atrophy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0009755 | Ankyloblepharon | 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:0000995 | Melanocytic nevus | 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:0002861 | Melanoma | MP:0012431 | increased lymphoma incidence | greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period |
| HP:0001072 | Thickened skin | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0007759 | Opacification of the corneal stroma | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0004322 | Short stature | 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:0000135 | Hypogonadism | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0001009 | Telangiectasia | MP:0013787 | photophobia | abnormal aversion or avoidance behavior in response to light; photophobia is symptom of abnormal intolerance to visual perception of light; as a medical symptom, photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the e |
| HP:0000524 | Conjunctival telangiectasia | MP:0014127 | increased thymoma incidence | greater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseas |
| HP:0100543 | Cognitive impairment | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000407 | Sensorineural hearing impairment | 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:0006887 | Intellectual disability, progressive | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001257 | Spasticity | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000992 | Cutaneous photosensitivity | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000518 | Cataract | 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:0010649 | Flat nasal alae | MP:0012431 | increased lymphoma incidence | greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period |
| HP:0001508 | Failure to thrive | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0000028 | Cryptorchidism | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0003355 | Aminoaciduria | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001596 | Alopecia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0012378 | Fatigue | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0001059 | Pterygium | MP:0013258 | abnormal extracellular matrix morphology | any structural anomaly of the structure lying external to one or more cells, which provides structural support for cells or tissues; in mammals, the extracellular matrix is completely external to the cell |
| HP:0000963 | Thin skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001053 | Hypopigmented skin patches | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0002829 | Arthralgia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0008734 | Decreased testicular size | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002376 | Developmental regression | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000962 | Hyperkeratosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001251 | Ataxia | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0002071 | Abnormality of extrapyramidal motor function | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001029 | Poikiloderma | MP:0013787 | photophobia | abnormal aversion or avoidance behavior in response to light; photophobia is symptom of abnormal intolerance to visual perception of light; as a medical symptom, photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the e |
| HP:0000621 | Entropion | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100012 | Neoplasm of the eye | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| HP:0000613 | Photophobia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000958 | Dry skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002750 | Delayed skeletal maturation | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000491 | Keratitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001480 | Freckling | MP:0013787 | photophobia | abnormal aversion or avoidance behavior in response to light; photophobia is symptom of abnormal intolerance to visual perception of light; as a medical symptom, photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the e |
| HP:0100585 | Telangiectasia of the skin | MP:0014127 | increased thymoma incidence | greater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseas |
| HP:0001034 | Hypermelanotic macule | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000252 | Microcephaly | 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:0000648 | Optic atrophy | 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:0000498 | Blepharitis | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0000656 | Ectropion | MP:0013787 | photophobia | abnormal aversion or avoidance behavior in response to light; photophobia is symptom of abnormal intolerance to visual perception of light; as a medical symptom, photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the e |
| HP:0001315 | Reduced tendon reflexes | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 327 |
|---|---|
| Disease | xeroderma pigmentosum |
| Case | (Waiting for update.) |