eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| cohen syndrome | ||||
| Disease ID | 499 |
|---|---|
| Disease | cohen syndrome |
| Definition | Cohen syndrome (also known as Pepper syndrome or Cervenka syndrome, named after Michael Cohen, William Pepper and Jaroslav Cervenka, who researched the illness) is a genetic disorder. - NORD Reference: NORD |
| Synonym | chs1, formerly coh coh1 cohen syndrome (disorder) cohen's syndrome cohens syndrome hypotonia, obesity, and prominent incisors norio syndrome obesity-hypotonia syndrome pepper syndrome prominent incisors-obesity-hypotonia syndrome |
| Orphanet | |
| OMIM | |
| UMLS | C0265223 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) VPS13B | 8q22.2 |
| Disease ID | 499 |
|---|---|
| Disease | cohen syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:64) HP:0000639 | Nystagmus HP:0000028 | Cryptorchidism HP:0001263 | Global developmental delay HP:0000492 | Abnormality of the eyelid HP:0000568 | Microphthalmia HP:0100874 | Thick hair HP:0004322 | Short stature HP:0001629 | Ventricular septal defect HP:0000545 | Myopia HP:0001166 | Arachnodactyly HP:0001612 | Weak cry HP:0001000 | Abnormality of skin pigmentation HP:0000527 | Long eyelashes HP:0200046 | Cat cry HP:0000767 | Pectus excavatum HP:0010295 | Aplasia/Hypoplasia of the tongue HP:0000347 | Micrognathia HP:0006101 | Finger syndactyly HP:0000486 | Strabismus HP:0002167 | Neurological speech impairment HP:0005692 | Joint hyperflexibility HP:0001531 | Failure to thrive in infancy HP:0001852 | Sandal gap HP:0000164 | Abnormality of the teeth HP:0009906 | Aplasia/Hypoplasia of the earlobes HP:0000574 | Thick eyebrow HP:0001511 | Intrauterine growth retardation HP:0004283 | Narrow palm HP:0000407 | Sensorineural hearing impairment HP:0000194 | Open mouth HP:0000384 | Preauricular skin tag HP:0000612 | Iris coloboma HP:0000494 | Downslanted palpebral fissures HP:0008872 | Feeding difficulties in infancy HP:0001250 | Seizures HP:0000327 | Hypoplasia of the maxilla HP:0000294 | Low anterior hairline HP:0000252 | Microcephaly HP:0002650 | Scoliosis HP:0001182 | Tapered finger HP:0003272 | Abnormality of the hip bone HP:0002808 | Kyphosis HP:0000648 | Optic atrophy HP:0000823 | Delayed puberty HP:0001875 | Neutropenia HP:0002857 | Genu valgum HP:0004209 | Clinodactyly of the 5th finger HP:0001572 | Macrodontia HP:0007703 | Abnormality of retinal pigmentation HP:0001135 | Chorioretinal dystrophy HP:0011308 | Slender toe HP:0001249 | Intellectual disability HP:0002705 | High, narrow palate HP:0000322 | Short philtrum HP:0000426 | Prominent nasal bridge HP:0001558 | Decreased fetal movement HP:0001634 | Mitral valve prolapse HP:0001513 | Obesity HP:0002967 | Cubitus valgus HP:0000499 | Abnormality of the eyelashes HP:0000212 | Gingival overgrowth HP:0001252 | Muscular hypotonia HP:0009804 | Reduced number of teeth HP:0010669 | Cheekbone underdevelopment |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) HP:0001956 | Centripetal obesity | 1 HP:0001249 | Mental retardation | 1 HP:0100813 | Testicular torsion | 1 HP:0000556 | Retinal dystrophy | 1 HP:0002751 | Kyphoscoliosis | 1 HP:0001513 | Obesity | 1 |
| Disease ID | 499 |
|---|---|
| Disease | cohen syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:4) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:3) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| VPS13B | chr8:g.100168921C>T, heterozygous;NM_017890.4, NP_060360.3;c.2158C>T, p.(Gln720*);chr8:g.100396500G>A, heterozygous;NM_017890.4, NP_060360.3;c.2889G>A, p.(Trp963*) | doi:10.1038/gim.2016.1 | A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders |
| VPS13B | Het del exon 34 | doi:10.1038/gim.2011.65 | Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders |
| VPS13B | Het del exon 31 | doi:10.1038/gim.2011.65 | Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:97) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs120074149 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99717219 | T | G |
| rs120074150 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B;LOC105375663 | 8 | 99720973 | C | T |
| rs120074151 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99511275 | G | T |
| rs120074152 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99384294 | C | T |
| rs120074153 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B;LOC105375663 | 8 | 99784394 | G | A |
| rs120074154 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99854202 | C | T |
| rs120074155 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99818473 | T | C |
| rs140353201 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99467566 | C | T |
| rs140936527 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99274273 | C | A |
| rs180177327 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99442538 | CT | - |
| rs180177329 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99823832 | - | T |
| rs180177356 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99156609 | C | T |
| rs180177357 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99275160 | - | GCTC |
| rs180177358 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99384318 | GT | - |
| rs180177359 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99556508 | - | AAT |
| rs180177360 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99556552 | G | A |
| rs180177362 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99577553 | AGTGTGGCTCAAGTTCAA | - |
| rs180177363 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99641942 | - | AG |
| rs180177364 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99641976 | - | C |
| rs180177366 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99717374 | G | A |
| rs180177374 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99875504 | - | C |
| rs28940272 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99820031 | A | G |
| rs28940272 | 15141358 | 157680 | VPS13B | umls:C0265223 | UNIPROT | By contrast, no COH1 mutations were found in patients with a provisional diagnosis of Cohen syndrome who did not fulfill the diagnostic criteria (Cohen-like syndrome). | 0.485971721 | 2004 | VPS13B | 8 | 99820031 | A | G |
| rs386834054 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99848834 | CA | - |
| rs386834055 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99853470 | - | A |
| rs386834056 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99854155 | TCTC | - |
| rs386834057 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99859307 | G | A |
| rs386834058 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99861781 | C | - |
| rs386834059 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99861828 | - | GGAC |
| rs386834060 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99861872 | G | A |
| rs386834061 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99868312 | C | T |
| rs386834062 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99870822 | A | - |
| rs386834063 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99870873 | - | T |
| rs386834064 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99870881 | A | - |
| rs386834065 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99871475 | A | - |
| rs386834066 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99871572 | AGTG | - |
| rs386834067 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99871657 | CAGTG | AA,AGAA |
| rs386834068 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99875424 | - | ATG |
| rs386834069 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99875503 | CCAGCTGTTC | - |
| rs386834070 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99134644 | C | T |
| rs386834071 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99134650 | G | T |
| rs386834072 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99134694 | ATTGT | - |
| rs386834073 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99147839 | A | G |
| rs386834074 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99156582 | C | - |
| rs386834075 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99038494 | AC | T |
| rs386834076 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B;LOC105375666 | 8 | 99013810 | CC | A |
| rs386834077 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99275080 | G | A |
| rs386834078 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99384272 | G | A |
| rs386834079 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99096310 | A | G |
| rs386834080 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99442617 | C | T |
| rs386834081 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99467586 | T | A |
| rs386834082 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99467636 | T | C |
| rs386834083 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99096424 | - | T |
| rs386834084 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99511138 | A | - |
| rs386834085 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99511200 | - | A |
| rs386834086 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99511215 | C | T |
| rs386834087 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99511278 | A | - |
| rs386834088 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99511284 | CTT | - |
| rs386834089 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99511376 | - | A |
| rs386834090 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99103007 | ATAA | - |
| rs386834091 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99521012 | T | C |
| rs386834093 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99575719 | C | T |
| rs386834094 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99641846 | - | T |
| rs386834095 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99642128 | - | T |
| rs386834096 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99642252 | - | A |
| rs386834097 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99642265 | C | - |
| rs386834098 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99642324 | AT | - |
| rs386834099 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99642342 | C | T |
| rs386834100 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99111143 | CA | - |
| rs386834101 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99699823 | GA | - |
| rs386834102 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99717328 | A | - |
| rs386834103 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B;LOC105375663 | 8 | 99720343 | A | G |
| rs386834104 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B;LOC105375663 | 8 | 99720944 | A | G |
| rs386834105 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B;LOC105375663 | 8 | 99766869 | G | - |
| rs386834106 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B;LOC105375663 | 8 | 99776957 | G | A |
| rs386834107 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B;LOC105375663 | 8 | 99778780 | C | T |
| rs386834108 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B;LOC105375663 | 8 | 99778787 | G | A |
| rs386834109 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B;LOC105375663 | 8 | 99784396 | C | - |
| rs386834110 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99809477 | C | T |
| rs386834111 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99817708 | C | - |
| rs386834112 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99818486 | G | A |
| rs386834113 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99818529 | C | T |
| rs386834114 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99818803 | A | - |
| rs386834115 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99819410 | A | G |
| rs386834116 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99819403 | A | G |
| rs386834117 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99115853 | GA | - |
| rs386834119 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99832368 | G | C,T |
| rs386834120 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99835195 | A | G |
| rs386834121 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99835213 | T | - |
| rs386834122 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99835238 | A | - |
| rs587777381 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99642500 | - | T |
| rs587777382 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99859482 | T | C |
| rs727504219 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99819998 | T | A |
| rs786204456 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99875503 | CCAGCTGTTCT | G |
| rs786204533 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99641849 | - | T |
| rs794727771 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99868451 | C | G |
| rs797046098 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99820043 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:27) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008872 | Feeding difficulties in infancy | MP:0011075 | abnormal macrophage activation involved in immune response | anomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response |
| HP:0000384 | Preauricular skin tag | MP:0001786 | skin edema | accumulation of an excessive amount of fluid in the skin layers or just underneath the skin |
| HP:0003272 | Abnormality of the hip bone | MP:0009536 | abnormal interstitial cell of Cajal morphology | any 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: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:0006101 | Finger syndactyly | MP:0000564 | syndactyly | any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone |
| HP:0000426 | Prominent nasal bridge | MP:0009903 | abnormal medial nasal prominence morphology | any structural anomaly of the central area of the two limbs of a horseshoe-shaped mesenchymal swelling that lie medial to the olfactory placode or pit in the future nasal region of the embryo; it joins with the ipsilateral maxillary prominence in the form |
| HP:0000492 | Abnormality of the eyelid | MP:0010178 | increased number of Howell-Jolly bodies | abnormal 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:0009804 | Reduced number of teeth | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0004209 | Clinodactyly of the 5th finger | MP:0011665 | d-loop transposition of the great arteries | complete 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:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0001000 | Abnormality of skin pigmentation | MP:0009536 | abnormal interstitial cell of Cajal morphology | any 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:0000294 | Low anterior hairline | MP:0004784 | abnormal anterior cardinal vein morphology | any structural anomaly of the two paired veins draining the cephalic part of the body |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0001558 | Decreased fetal movement | MP:0013603 | abnormal fetal Leydig cell differentiation | atypical formation of or inability to produce the first or fetal population of Leydig cells (FLCs); in mice, FLCs arise in the testicular interstitium between E12.5 and E13.0, approximately 1 day after the appearance of Sertoli cells; Sertoli cells trigge |
| HP:0010295 | Aplasia/Hypoplasia of the tongue | MP:0003409 | decreased width of hypertrophic chondrocyte zone | decreased width of cartilage cell matrix layer |
| HP:0007703 | Abnormality of retinal pigmentation | MP:0011665 | d-loop transposition of the great arteries | complete 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:0000499 | Abnormality of the eyelashes | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0001531 | Failure to thrive in infancy | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| 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:0001634 | Mitral valve prolapse | MP:0010617 | thick mitral valve cusps | an increase in the ratio of the mitral valve cusp wall thickness to the atrioventricular septum thickness |
| HP:0000327 | Hypoplasia of the maxilla | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0000612 | Iris coloboma | MP:0005262 | coloboma | anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation |
| HP:0009906 | Aplasia/Hypoplasia of the earlobes | MP:0012167 | abnormal epigenetic regulation of gene expression | any anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA |
| HP:0001511 | Intrauterine growth retardation | MP:0011109 | lethality throughout fetal growth and development, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5) |
| HP:0010669 | Hypoplasia of the zygomatic bone | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0001629 | Ventricular septal defect | MP:0011667 | double outlet right ventricle with atrioventricular septal defect | a form of DORV in which there is also a complete atrioventricular canal |
| HP: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 |
Mapped by homologous gene(Total Items:64) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | 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:0200046 | Cat cry | MP:0011098 | embryonic lethality during organogenesis, complete penetrance | death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) |
| HP:0000327 | Hypoplasia of the maxilla | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001612 | Weak cry | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001634 | Mitral valve prolapse | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000322 | Short philtrum | 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: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: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:0100874 | Thick hair | MP:0011400 | lethality, complete penetrance | all individuals of a given genotype in a population die before the end of the normal lifespan but time(s) of death are unspecified |
| 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:0000212 | Gingival overgrowth | MP:0014179 | abnormal blood-retinal barrier function | anomaly 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:0001135 | Chorioretinal dystrophy | MP:0011110 | preweaning lethality, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age) |
| HP:0001852 | Sandal gap | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0001629 | Ventricular septal defect | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP: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:0009906 | Aplasia/Hypoplasia of the earlobes | 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:0000347 | Micrognathia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002705 | High, narrow palate | MP:0013600 | testis degeneration | a retrogressive impairment of function or destruction of either or both of the male reproductive glands |
| HP:0001182 | Tapered finger | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| 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:0001511 | Intrauterine growth retardation | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0001000 | Abnormality of skin pigmentation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000384 | Preauricular skin tag | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000426 | Prominent nasal bridge | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002857 | Genu valgum | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0009804 | Reduced number of teeth | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000574 | Thick eyebrow | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0006101 | Finger syndactyly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001572 | Macrodontia | 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:0000767 | Pectus excavatum | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001263 | Global developmental delay | 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:0000612 | Iris coloboma | MP:0013791 | absent external nares | absence or failure to form both of the anterior openings to the nasal cavity |
| HP:0000568 | Microphthalmia | 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:0000194 | Open mouth | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001513 | Obesity | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001531 | Failure to thrive in infancy | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000823 | Delayed puberty | MP:0020087 | increased susceptibility to non-insulin-dependent diabetes | increased likelihood to develop non-insulin-dependent diabetes |
| HP:0002967 | Cubitus valgus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0010295 | Aplasia/Hypoplasia of the tongue | MP:0013906 | absent embryonic telencephalon | absence of the paired diverticula of the embryonic telencephalon, from which the forebrain develops |
| HP:0008872 | Feeding difficulties in infancy | 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:0001875 | Neutropenia | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0001558 | Decreased fetal movement | 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:0000294 | Low anterior hairline | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000639 | Nystagmus | 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:0007703 | Abnormality of retinal pigmentation | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000494 | Downslanted palpebral fissures | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000492 | Abnormality of the eyelid | 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:0002167 | Neurological speech impairment | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0004283 | Narrow palm | MP:0014142 | increased body fat mass | increased physical bulk or volume of fat in the whole body |
| HP:0001166 | Arachnodactyly | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000545 | Myopia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0004209 | Clinodactyly of the 5th finger | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0005692 | Joint hyperflexibility | MP:0012125 | decreased bronchoconstrictive response | reduction in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography |
| HP:0010669 | Hypoplasia of the zygomatic bone | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002808 | Kyphosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000499 | Abnormality of the eyelashes | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000527 | Long eyelashes | MP:0013956 | decreased colon length | reduced length of the portion of the large intestine between the cecum and the rectum |
| HP:0011308 | Slender toe | MP:0011090 | perinatal lethality, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the perinatal period (Mus: E18.5 through postnatal day 1) |
| 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:0003272 | Abnormality of the hip bone | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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 |
| Disease ID | 499 |
|---|---|
| Disease | cohen syndrome |
| Case | (Waiting for update.) |