eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| charge syndrome | ||||
| Disease ID | 54 |
|---|---|
| Disease | charge syndrome |
| Definition | A rare autosomal dominant syndrome usually caused by mutations in the CHD7 gene. The term CHARGE is an acronym for the following unusual congenital abnormalities that are associated with this syndrome: coloboma of the eye, heart defects, choanal atresia, growth and developmental retardation, genital, and ear abnormalities. |
| Synonym | association, charge associations, charge charge association charge association (disorder) charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies charge associations charge syndrome [disease/finding] charge syndromes coloboma, congenital heart disease, choanal atresia, growth retardation, genital hypoplasia, ear and hearing anomaly syndrome coloboma, congenital heart disease, choanal atresia, growth retardation, genital hypoplasia, ear and hearing anomaly syndrome (disorder) coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations (charge) association coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations (charge) association (disorder) coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association (disorder) hall hittner syndrome hall-hittner syndrome syndrome, charge syndrome, hall-hittner |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0265354 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:12) C0037315 | sleep apnea | 2 C0004352 | autism | 2 C0018784 | sensorineural hearing loss | 2 C0520679 | obstructive sleep apnea | 2 C0020626 | hypoparathyroidism | 1 C0022735 | hypogonadotropic hypogonadism | 1 C1519214 | secondary glioblastoma | 1 C0020619 | hypogonadism | 1 C0456909 | blindness | 1 C0017636 | glioblastoma | 1 C0796004 | kabuki syndrome | 1 C0021053 | immune dysfunction | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:66) 58 | ACTA1 | 1.092 | DISEASES 86 | ACTL6A | 2.867 | DISEASES 23394 | ADNP | 1.862 | DISEASES 2334 | AFF2 | 1.425 | DISEASES 257 | ALX3 | 1.535 | DISEASES 9070 | ASH2L | 2.38 | DISEASES 11177 | BAZ1A | 3.185 | DISEASES 55653 | BCAS4 | 3.192 | DISEASES 4076 | CAPRIN1 | 2.795 | DISEASES 978 | CDA | 1.208 | DISEASES 64072 | CDH23 | 1.692 | DISEASES 1106 | CHD2 | 2.964 | DISEASES 84181 | CHD6 | 3.813 | DISEASES 55636 | CHD7 | 8.395 | DISEASES 57680 | CHD8 | 4.228 | DISEASES 80205 | CHD9 | 3.4 | DISEASES 7401 | CLRN1 | 2.479 | DISEASES 157807 | CLVS1 | 3.511 | DISEASES 1285 | COL4A3 | 1.175 | DISEASES 1297 | COL9A1 | 2.174 | DISEASES 64764 | CREB3L2 | 1.144 | DISEASES 285489 | DOK7 | 1.854 | DISEASES 8813 | DPM1 | 1.057 | DISEASES 9343 | EFTUD2 | 2.384 | DISEASES 2081 | ERN1 | 1.279 | DISEASES 79843 | FAM124B | 4.02 | DISEASES 2187 | FANCB | 1.885 | DISEASES 2200 | FBN1 | 1.658 | DISEASES 2253 | FGF8 | 3.866 | DISEASES 2260 | FGFR1 | 3.25 | DISEASES 2304 | FOXE1 | 2.719 | DISEASES 2290 | FOXG1 | 2.211 | DISEASES 2737 | GLI3 | 2.976 | DISEASES 388585 | HES5 | 1.777 | DISEASES 3295 | HSD17B4 | 1.806 | DISEASES 3785 | KCNQ2 | 1.067 | DISEASES 84678 | KDM2B | 2.495 | DISEASES 3814 | KISS1 | 1.03 | DISEASES 11155 | LDB3 | 1.043 | DISEASES 4194 | MDM4 | 1.226 | DISEASES 4549 | MT-RNR1 | 2.066 | DISEASES 4693 | NDP | 1.914 | DISEASES 9378 | NRXN1 | 1.612 | DISEASES 64324 | NSD1 | 1.467 | DISEASES 8481 | OFD1 | 1.951 | DISEASES 10215 | OLIG2 | 1.124 | DISEASES 5015 | OTX2 | 3.344 | DISEASES 5080 | PAX6 | 1.488 | DISEASES 65217 | PCDH15 | 1.794 | DISEASES 5649 | RELN | 1.005 | DISEASES 56963 | RGMA | 1.598 | DISEASES 6023 | RMRP | 1.846 | DISEASES 5272 | SERPINB9 | 1.786 | DISEASES 6594 | SMARCA1 | 3.7 | DISEASES 6597 | SMARCA4 | 3.056 | DISEASES 6663 | SOX10 | 1.925 | DISEASES 6664 | SOX11 | 2.499 | DISEASES 6657 | SOX2 | 2.67 | DISEASES 6658 | SOX3 | 1.763 | DISEASES 6899 | TBX1 | 1.908 | DISEASES 10732 | TCFL5 | 1.426 | DISEASES 7009 | TMBIM6 | 2.092 | DISEASES 7155 | TOP2B | 1.273 | DISEASES 157680 | VPS13B | 1.501 | DISEASES 11091 | WDR5 | 1.83 | DISEASES 151126 | ZNF385B | 3.17 | DISEASES |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 54 |
|---|---|
| Disease | charge syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:82) HP:0000044 | Hypogonadotrophic hypogonadism HP:0000066 | Labial hypoplasia HP:0000028 | Cryptorchidism HP:0000160 | Narrow mouth HP:0000639 | Nystagmus HP:0100736 | Abnormality of the soft palate HP:0010978 | Abnormality of immune system physiology HP:0000568 | Microphthalmia HP:0002553 | Highly arched eyebrow HP:0010751 | Chin dimple HP:0001601 | Laryngomalacia HP:0000722 | Obsessive-compulsive behavior HP:0000365 | Hearing impairment HP:0000453 | Choanal atresia HP:0001360 | Holoprosencephaly HP:0002575 | Tracheoesophageal fistula HP:0000625 | Cleft eyelid HP:0010628 | Facial palsy HP:0005280 | Depressed nasal bridge HP:0000508 | Ptosis HP:0008736 | Hypoplasia of penis HP:0001156 | Brachydactyly syndrome HP:0002937 | Hemivertebrae HP:0007360 | Aplasia/Hypoplasia of the cerebellum HP:0000126 | Hydronephrosis HP:0002564 | Malformation of the heart and great vessels HP:0000486 | Strabismus HP:0010443 | Bifid femur HP:0000316 | Hypertelorism HP:0000204 | Cleft upper lip HP:0001643 | Patent ductus arteriosus HP:0000359 | Abnormality of the inner ear HP:0000684 | Delayed eruption of teeth HP:0001636 | Tetralogy of Fallot HP:0001511 | Intrauterine growth retardation HP:0000772 | Abnormality of the ribs HP:0009906 | Aplasia/Hypoplasia of the earlobes HP:0000008 | Abnormality of female internal genitalia HP:0004348 | Abnormality of bone mineral density HP:0011611 | Interrupted aortic arch HP:0000384 | Preauricular skin tag HP:0000048 | Bifid scrotum HP:0000396 | Overfolded helix HP:0000076 | Vesicoureteral reflux HP:0000478 | Abnormality of the eye HP:0000612 | Iris coloboma HP:0000632 | Lacrimation abnormality HP:0000286 | Epicanthus HP:0000175 | Cleft palate HP:0000324 | Facial asymmetry HP:0000834 | Abnormality of the adrenal glands HP:0002020 | Gastroesophageal reflux HP:0002093 | Respiratory insufficiency HP:0001646 | Abnormality of the aortic valve HP:0005113 | Dilatation of the aortic arch HP:0000275 | Narrow face HP:0000252 | Microcephaly HP:0000458 | Anosmia HP:0000528 | Anophthalmia HP:0002650 | Scoliosis HP:0002992 | Abnormality of the tibia HP:0007018 | Attention deficit hyperactivity disorder HP:0000648 | Optic atrophy HP:0004209 | Clinodactyly of the 5th finger HP:0000830 | Anterior hypopituitarism HP:0000085 | Horseshoe kidney HP:0001249 | Intellectual disability HP:0001305 | Dandy-Walker malformation HP:0000717 | Autism HP:0001883 | Talipes HP:0000567 | Chorioretinal coloboma HP:0000504 | Abnormality of vision HP:0002410 | Aqueductal stenosis HP:0000368 | Low-set, posteriorly rotated ears HP:0006824 | Cranial nerve paralysis HP:0001252 | Muscular hypotonia HP:0008551 | Microtia HP:0008572 | External ear malformation HP:0001671 | Abnormality of the cardiac septa HP:0008872 | Feeding difficulties in infancy HP:0010669 | Cheekbone underdevelopment HP:0001561 | Polyhydramnios |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:23) HP:0002104 | Absence of spontaneous respiration | 2 HP:0010535 | Sleep apnea | 2 HP:0002870 | Obstructive sleep apnea | 2 HP:0000407 | sensorineural hearing loss | 2 HP:0000717 | Autism | 2 HP:0000078 | Genital abnormalities | 2 HP:0100543 | Cognitive deficits | 1 HP:0000356 | Ear anomalies | 1 HP:0000618 | Blindness | 1 HP:0000453 | Blockage of the rear opening of the nasal cavity | 1 HP:0001636 | Tetrology of fallot | 1 HP:0000829 | Hypoparathyroidism | 1 HP:0002023 | Anal atresia | 1 HP:0000135 | Hypogonadism | 1 HP:0100258 | Polydactyly, preaxial | 1 HP:0000528 | Absence of eyeballs | 1 HP:0012366 | Basilar invagination | 1 HP:0010775 | Vascular ring | 1 HP:0000589 | Ocular coloboma | 1 HP:0001320 | Hypoplasia of the cerebellar vermis | 1 HP:0100843 | Glioblastoma | 1 HP:0001317 | Abnormality of the cerebellum | 1 HP:0004947 | Arteriovenous fistula | 1 |
| Disease ID | 54 |
|---|---|
| Disease | charge syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:10) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:3) |
Manually Genotype(Total Manually Genotypes:4) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| CHD7 | chr8:g.61655471C>T, heterozygous;NM_017780.3, NP_060250.2;c.1480C>T, p.(Arg494*) | 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 |
| CHARGE syndrome | CHD7 | NM_017780, c.5165_5166insC (p.F1722Sfs*15) | doi:10.1038/gim.2015.186 |
| CHD7 | Ex2:c.309G>A / p.(=) (Benign); Ex31:c.6478G>A / p.A2160T (Benign); Ex2:c.856A>G / p.R286Gly (Benign) | doi:10.1038/gim.2015.30 | Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology |
| CHD7 | - | doi:10.1038/gim.2015.51 | Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:53) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121434338 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60822627 | A | G |
| rs121434339 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60830569 | T | G |
| rs121434340 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60850506 | C | G |
| rs121434341 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60855993 | C | A |
| rs121434342 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60836105 | G | T |
| rs121434343 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60853047 | G | A |
| rs121434344 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60816389 | C | T |
| rs121918341 | NA | 9723 | SEMA3E | umls:C0265354 | CLINVAR | NA | 0.36 | NA | SEMA3E | 7 | 83367806 | G | A |
| rs267606724 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60841997 | C | G,T |
| rs387906271 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7;LOC105375868 | 8 | 60801598 | G | C |
| rs398124321 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60850486 | G | A,T |
| rs587783428 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60742678 | G | T |
| rs587783429 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60742912 | C | T |
| rs587783431 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60741623 | CAAA | - |
| rs587783432 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60816502 | G | A |
| rs587783433 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60820036 | T | G |
| rs587783434 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60821907 | G | T |
| rs587783436 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60822093 | AG | - |
| rs587783440 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60837800 | C | T |
| rs587783441 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60837838 | A | G |
| rs587783442 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60838202 | C | T |
| rs587783443 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60841744 | T | - |
| rs587783445 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60850538 | T | G |
| rs587783446 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60850546 | C | T |
| rs587783447 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60851048 | G | T |
| rs587783448 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60852017 | A | C |
| rs587783450 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60852882 | C | T |
| rs587783451 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60853012 | A | G |
| rs587783454 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60854437 | C | T |
| rs587783455 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60856532 | C | T |
| rs587783456 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60856664 | TCTT | - |
| rs587783457 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60862256 | C | T |
| rs587783458 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60862322 | C | T |
| rs587783459 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60862631 | G | A |
| rs727503863 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60822121 | G | A |
| rs750047137 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60853254 | G | A |
| rs786200873 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60852105 | - | A |
| rs786204200 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60742920 | - | A |
| rs794727293 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60741901 | C | T |
| rs794727295 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60742656 | TCCTCCTCCAC | - |
| rs794727298 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60742897 | C | T |
| rs794727569 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60856033 | G | A |
| rs797044725 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60865402 | - | ACCCTCTGTCA |
| rs797045461 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60781012 | - | G |
| rs797045463 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60816397 | - | TTATCTTC |
| rs797045465 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60820035 | - | A |
| rs797045467 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60845036 | C | T |
| rs797045468 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60741960 | - | G |
| rs797045469 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60851292 | - | G |
| rs797045470 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60853171 | G | - |
| rs797045471 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60853251 | G | - |
| rs797045472 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60854412 | - | C |
| rs797045473 | NA | 55636 | CHD7 | umls:C0265354 | CLINVAR | NA | 0.587068242 | NA | CHD7 | 8 | 60862306 | - | TG |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:43) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001646 | Abnormality of the aortic valve | 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: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:0001643 | Patent ductus arteriosus | MP:0011662 | persistent truncus arteriosus type ii | complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; type II is characterized by separate but proximate origins of the left and right pulmonary arterial branches fro |
| HP:0000085 | Horseshoe kidney | MP:0011441 | decreased kidney cell proliferation | decrease in the expansion rate of any kidney cell population by cell division |
| HP:0000772 | Abnormality of the ribs | 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: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:0000160 | Narrow mouth | MP:0000452 | abnormal mouth morphology | any structural anomaly of the oral cavity |
| HP:0006824 | Cranial nerve paralysis | MP:0006303 | abnormal retinal nerve fiber layer morphology | any structural anomaly of the layer of the retina formed by expansion of the fibers of the optic nerve |
| HP:0010978 | Abnormality of immune system physiology | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0005280 | Depressed nasal bridge | MP:0013582 | abnormal lateral nasal gland morphology | any 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:0007360 | Aplasia/Hypoplasia of the cerebellum | MP:0012129 | failure of blastocyst formation | inability to form a blastocyst from a solid ball of cells known as a morula |
| HP:0000453 | Choanal atresia | MP:0009510 | cecal atresia | congenital blockage or absence of the lumen of the cecum |
| HP:0001636 | Tetralogy of Fallot | 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: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:0000504 | Abnormality of vision | MP:0012528 | abnormal zone of polarizing activity morphology | any structural anomaly of the subset of cells found in the posterior mesenchyme region of the vertebrate limb bud; Sonic hedgehog (Shh) produced by ZPA represents the key mediator of the polarizing activity that regulates patterning of the limb along the |
| 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:0011611 | Interrupted aortic arch | MP:0012493 | absent pharyngeal arch arteries | absence of the vessels formed within the six (five in mammals) pairs of branchial arches in embryogenesis; in the adult, some of these vessels give rise to the great vessels |
| HP:0002575 | Tracheoesophageal fistula | MP:0003321 | tracheoesophageal fistula | an abnormal passage is present between the esophagus and the trachea; may be acquired or congenital, and is often associated with esophageal atresia |
| HP:0000008 | Abnormality of female internal genitalia | 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:0000722 | Obsessive-compulsive behavior | MP:0009456 | impaired cued conditioning behavior | decrease in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and a neutral stimulus (the conditioned stimulus (CS), usually an auditory cue or light flash) |
| HP:0000175 | Cleft palate | MP:0013550 | abnormal secondary palate morphology | |
| HP:0000830 | Anterior hypopituitarism | MP:0003348 | hypopituitarism | reduction or cessation of secretion of one or more hormones from the anterior pituitary gland; this may result from ablation, tumors, infarction, or other trauma |
| HP:0001671 | Abnormality of the cardiac septa | 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:0000478 | Abnormality of the eye | 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:0008572 | External ear malformation | MP:0006286 | inner ear hypoplasia | underdevelopment or reduced size of inner ear structures, usually due to decreased cell number |
| HP:0002992 | Abnormality of the tibia | MP:0012528 | abnormal zone of polarizing activity morphology | any structural anomaly of the subset of cells found in the posterior mesenchyme region of the vertebrate limb bud; Sonic hedgehog (Shh) produced by ZPA represents the key mediator of the polarizing activity that regulates patterning of the limb along the |
| HP:0100736 | Abnormality of the soft palate | 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:0000048 | Bifid scrotum | MP:0002670 | absent scrotum | missing the external sac of skin that encloses the testes |
| HP:0007018 | Attention deficit hyperactivity disorder | MP:0001399 | hyperactivity | general restlessness or excessive movement; more frequent movement from one place to another or having an increased state of activity |
| 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:0000684 | Delayed eruption of teeth | 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:0000066 | Labial hypoplasia | MP:0013350 | Rathke's pouch hypoplasia | underdevelopment or reduced size of Rathke's pouch, usually due to a reduced number of cells |
| 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:0000359 | Abnormality of the inner ear | 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:0004348 | Abnormality of bone mineral density | 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:0000076 | Vesicoureteral reflux | MP:0001948 | vesicoureteral reflux | the retrograde flow of urine from the bladder into the ureters and kidneys |
| 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:0000625 | Cleft eyelid | MP:0003153 | early eyelid opening | early average time for the first postnatal eye opening |
| HP:0000204 | Cleft upper lip | MP:0005170 | cleft upper lip | defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences |
| HP:0008736 | Hypoplasia of penis | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0000834 | Abnormality of the adrenal glands | 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 |
Mapped by homologous gene(Total Items:80) | ||||
|---|---|---|---|---|
| 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:0000632 | Lacrimation abnormality | MP:0013721 | abnormal mammary placode morphology | any structural anomaly of the transient lens-shaped thickening of surface ectoderm that will give rise to the mammary bud proper; in mouse, five pairs of symmetrically positioned mammary placodes (three thoracic and two inguinal) form at reproducible loca |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001883 | Talipes | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0004348 | Abnormality of bone mineral density | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000528 | Anophthalmia | 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:0001646 | Abnormality of the aortic valve | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0000508 | Ptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000275 | Narrow face | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000044 | Hypogonadotrophic hypogonadism | 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:0000396 | Overfolded helix | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000048 | Bifid scrotum | 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:0000359 | Abnormality of the inner ear | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| 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:0000453 | Choanal atresia | 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:0000085 | Horseshoe kidney | MP:0014044 | absent cardiac outflow tract | absence of or complete failure to form the common arterial trunk that normally forms the aorta and pulmonary artery and the ventricular outflow regions |
| HP:0010751 | Chin dimple | MP:0013767 | decreased palatal rugae number | reduced number of transverse folds (ridges) of the mucosa located on the anterior third part of the secondary (hard) palate of most mammalian species |
| HP:0000717 | Autism | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000567 | Chorioretinal coloboma | MP:0013767 | decreased palatal rugae number | reduced number of transverse folds (ridges) of the mucosa located on the anterior third part of the secondary (hard) palate of most mammalian species |
| HP:0008551 | Microtia | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000008 | Abnormality of female internal genitalia | 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: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:0100736 | Abnormality of the soft palate | MP:0013767 | decreased palatal rugae number | reduced number of transverse folds (ridges) of the mucosa located on the anterior third part of the secondary (hard) palate of most mammalian species |
| HP:0007018 | Attention deficit hyperactivity disorder | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000324 | Facial asymmetry | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000316 | Hypertelorism | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000772 | Abnormality of the ribs | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002093 | Respiratory insufficiency | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001601 | Laryngomalacia | MP:0014152 | absent exorbital lacrimal gland | absence of the large extra-orbital lacrimal gland that, in mice, is normally located subcutaneously at the anteroventral base of the ear adjacent to the parotid gland |
| HP:0002553 | Highly arched 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:0000625 | Cleft eyelid | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0000126 | Hydronephrosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0008572 | External ear malformation | 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:0000204 | Cleft upper lip | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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: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:0000384 | Preauricular skin tag | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000076 | Vesicoureteral reflux | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0002410 | Aqueductal stenosis | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0001305 | Dandy-Walker malformation | 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:0005280 | Depressed nasal bridge | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000066 | Labial hypoplasia | MP:0013767 | decreased palatal rugae number | reduced number of transverse folds (ridges) of the mucosa located on the anterior third part of the secondary (hard) palate of most mammalian species |
| HP:0002937 | Hemivertebrae | 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:0007360 | Aplasia/Hypoplasia of the cerebellum | 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:0001156 | Brachydactyly syndrome | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0001643 | Patent ductus arteriosus | 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:0000834 | Abnormality of the adrenal glands | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001561 | Polyhydramnios | 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:0001636 | Tetralogy of Fallot | MP:0014117 | increased pancreatic beta cell apoptosis | increase in the number of pancreatic beta cells undergoing programmed cell death |
| HP:0011611 | Interrupted aortic arch | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| 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:0000160 | Narrow mouth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000175 | Cleft palate | 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: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:0002992 | Abnormality of the tibia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005113 | Dilatation of the aortic arch | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0000722 | Obsessive-compulsive behavior | MP:0013405 | increased circulating lactate level | greater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase |
| HP:0002020 | Gastroesophageal reflux | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0002575 | Tracheoesophageal fistula | 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:0001360 | Holoprosencephaly | MP:0014051 | abnormal maxillary-premaxillary suture morphology | any structural anomaly of the line of union of the two portions of the maxilla (pre- and postmaxilla) |
| 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:0000684 | Delayed eruption of teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000286 | Epicanthus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000458 | Anosmia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001671 | Abnormality of the cardiac septa | MP:0013901 | absent female preputial gland | absence of the paired, lobulated, modified sebaceous glands located on the side of the clitoris in female rodents; in contrast to the preputial glands in male rodents, clitoral glands are a minor source of olfactory stimuli contributing to sexual attracti |
| HP:0000368 | Low-set, posteriorly rotated ears | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0010978 | Abnormality of immune system physiology | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| 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:0000504 | Abnormality of vision | MP:0013545 | cleft hard palate | cleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones |
| HP:0008736 | Hypoplasia of penis | 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:0010628 | Facial palsy | MP:0020240 | increased skeletal muscle cell apoptosis | increase in the number of skeletal muscle cells undergoing programmed cell death |
| HP:0000478 | Abnormality of the eye | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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: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:0000830 | Anterior hypopituitarism | 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:0006824 | Cranial nerve paralysis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 54 |
|---|---|
| Disease | charge syndrome |
| Case | (Waiting for update.) |