eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| focal dermal hypoplasia | ||||
| Disease ID | 220 |
|---|---|
| Disease | focal dermal hypoplasia |
| Definition | A genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anomalies. It is found exclusively in females and transmitted as an X-linked dominant trait. |
| Synonym | dermal focal hypoplasia dermal hypoplasia, focal dermal hypoplasias, focal dhof fdh fdh - focal dermal hypoplasia focal dermal hypoplasia (disorder) focal dermal hypoplasia [disease/finding] focal dermal hypoplasia syndrome focal dermal hypoplasias focal facial dermal dysplasia fodh fodh - focal dermal hypoplasia goltz gorlin syndrome goltz syndrome goltz syndrome (disorder) goltz's syndrome goltz-gorlin (dermal hypoplasia) syndrome goltz-gorlin syndrome goltzs syndrome gorlin syndrome, goltz hypoplasia, focal dermal hypoplasias, focal dermal syndrome, goltz syndrome, goltz gorlin syndrome, goltz's syndrome, goltz-gorlin |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0016395 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:13) C0007117 | basal cell carcinoma | 2 C0014544 | seizure disorders | 1 C0019829 | hodgkin's lymphoma | 1 C0007117 | basal cell carcinomas | 1 C0011649 | dermoid cysts | 1 C0037315 | sleep apnea | 1 C0014544 | seizure disorder | 1 C0024305 | non-hodgkin's lymphoma | 1 C0520679 | obstructive sleep apnea | 1 C0014544 | epilepsy | 1 C0037315 | sleep apnea syndrome | 1 C0011649 | dermoid cyst | 1 C0520679 | obstructive sleep apnea syndrome | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:19) 203 | AK1 | 2.402 | DISEASES 1289 | COL5A1 | 2.326 | DISEASES 10682 | EBP | 2.623 | DISEASES 2260 | FGFR1 | 1.793 | DISEASES 9573 | GDF3 | 2.591 | DISEASES 2719 | GPC3 | 1.234 | DISEASES 3052 | HCCS | 4.33 | DISEASES 3214 | HOXB4 | 2.621 | DISEASES 84148 | KAT8 | 2.336 | DISEASES 4010 | LMX1B | 2.03 | DISEASES 51360 | MBTPS2 | 2.516 | DISEASES 8481 | OFD1 | 3.572 | DISEASES 64840 | PORCN | 8.159 | DISEASES 5727 | PTCH1 | 6.103 | DISEASES 6207 | RPS13 | 2.142 | DISEASES 6303 | SAT1 | 1.88 | DISEASES 51684 | SUFU | 2.023 | DISEASES 51592 | TRIM33 | 2.457 | DISEASES 79971 | WLS | 3.288 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) PORCN | Xp11.23 |
| Disease ID | 220 |
|---|---|
| Disease | focal dermal hypoplasia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:70) HP:0012740 | Papilloma HP:0000894 | Short clavicles HP:0012733 | Macule HP:0000568 | Microphthalmia HP:0000682 | Abnormality of dental enamel HP:0000307 | Pointed chin HP:0100543 | Cognitive impairment HP:0001629 | Ventricular septal defect HP:0000365 | Hearing impairment HP:0001482 | Subcutaneous nodule HP:0001770 | Toe syndactyly HP:0001000 | Abnormality of skin pigmentation HP:0002027 | Abdominal pain HP:0005930 | Abnormality of epiphysis morphology HP:0100585 | Telangiectasia of the skin HP:0001540 | Diastasis recti HP:0007676 | Hypoplasia of the iris HP:0004930 | Abnormality of the pulmonary vasculature HP:0002247 | Duodenal atresia HP:0006554 | Acute hepatic failure HP:0008839 | Hypoplastic pelvis HP:0000963 | Thin skin HP:0000773 | Short ribs HP:0003758 | Reduced subcutaneous fat HP:0001171 | Split hand HP:0008678 | Renal hypoplasia/aplasia HP:0006101 | Finger syndactyly HP:0010783 | Erythema HP:0001537 | Umbilical hernia HP:0000126 | Hydronephrosis HP:0000369 | Low-set ears HP:0000486 | Strabismus HP:0006482 | Abnormality of dental morphology HP:0009124 | Abnormality of adipose tissue HP:0001643 | Patent ductus arteriosus HP:0000164 | Abnormality of the teeth HP:0011847 | Giant cell tumor of bone HP:0009804 | Reduced number of teeth HP:0002414 | Spina bifida HP:0000612 | Iris coloboma HP:0002020 | Gastroesophageal reflux HP:0008065 | Aplasia/Hypoplasia of the skin HP:0000324 | Facial asymmetry HP:0000003 | Multicystic kidney dysplasia HP:0007957 | Corneal opacity HP:0002650 | Scoliosis HP:0001539 | Omphalocele HP:0000370 | Abnormality of the middle ear HP:0100560 | Upper limb asymmetry HP:0000023 | Inguinal hernia HP:0045026 | Abnormality of the mediastinum HP:0000085 | Horseshoe kidney HP:0001597 | Abnormality of the nail HP:0001018 | Abnormal palmar dermatoglyphics HP:0000567 | Chorioretinal coloboma HP:0001083 | Ectopia lentis HP:0001596 | Alopecia HP:0004334 | Dermal atrophy HP:0006703 | Aplasia/Hypoplasia of the lungs HP:0010807 | Open bite HP:0100490 | Camptodactyly of finger HP:0001161 | Hand polydactyly HP:0001839 | Split foot HP:0100559 | Lower limb asymmetry HP:0000446 | Narrow nasal bridge HP:0100790 | Hernia HP:0200036 | Skin nodule HP:0100670 | Rough bone trabeculation HP:0001671 | Abnormality of the cardiac septa HP:0000776 | Congenital diaphragmatic hernia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:23) HP:0002671 | Basalioma | 2 HP:0012189 | Hodgkin disease | 1 HP:0000324 | Asymmetry of face | 1 HP:0002104 | Absence of spontaneous respiration | 1 HP:0002308 | Chiari malformation | 1 HP:0001696 | Situs inversus totalis | 1 HP:0007902 | Vitreous hemorrhage | 1 HP:0000995 | Beauty mark | 1 HP:0001171 | Hand ectrodactyly | 1 HP:0000316 | Increased distance between eye sockets | 1 HP:0100257 | Cleft hand | 1 HP:0030731 | Carcinoma | 1 HP:0010535 | Sleep apnea | 1 HP:0001760 | Foot deformities | 1 HP:0010866 | Congenital anterior abdominal wall defect | 1 HP:0001839 | Foot ectrodactyly | 1 HP:0000695 | Natal teeth | 1 HP:0200040 | Epidermal inclusion cyst | 1 HP:0012531 | Pain | 1 HP:0001250 | Seizures | 1 HP:0001057 | Aplasia cutis congenita | 1 HP:0030451 | Mesenteric cyst | 1 HP:0002870 | Obstructive sleep apnea | 1 |
| Disease ID | 220 |
|---|---|
| Disease | focal dermal hypoplasia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:8) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:2) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| PORCN | Het del whole gene | doi:10.1038/gim.2011.65 | Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders |
| PORCN | - | 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:5) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs137852218 | NA | 64840 | PORCN | umls:C0016395 | CLINVAR | NA | 0.574144772 | NA | PORCN | X | 48511932 | C | T |
| rs137852219 | NA | 64840 | PORCN | umls:C0016395 | CLINVAR | NA | 0.574144772 | NA | PORCN | X | 48511380 | G | A |
| rs267606973 | NA | 64840 | PORCN | umls:C0016395 | CLINVAR | NA | 0.574144772 | NA | PORCN | X | 48511336 | G | A |
| rs387906723 | NA | 64840 | PORCN | umls:C0016395 | CLINVAR | NA | 0.574144772 | NA | PORCN | X | 48516082 | G | A |
| rs587776737 | NA | 64840 | PORCN | umls:C0016395 | CLINVAR | NA | 0.574144772 | NA | PORCN | X | 48515937 | - | CCTGGCTTTTATC |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:38) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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:0005930 | Abnormality of epiphysis morphology | MP:0013621 | decreased internal diameter of femur | reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0000776 | Congenital diaphragmatic hernia | MP:0010146 | umbilical hernia | an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close |
| HP:0009124 | Abnormality of adipose tissue | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0001083 | Ectopia lentis | MP:0005263 | ectopia lentis | congenital displacement of the lens due to defective zonule formation |
| 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:0000773 | Short ribs | MP:0004672 | short ribs | reduced length of the bones forming the bony wall of the chest |
| HP:0000446 | Narrow nasal bridge | MP:0006293 | absent nasal placodes | absence of the paired ectodermal placodes that come to lie in the bottom of the olfactory pits as the pits are deepened by the growth of the surrounding medial and lateral nasal processes; the nasal placode gives rise to the olfactory epithelium of the no |
| HP:0002247 | Duodenal atresia | MP:0003130 | anal atresia | congenital absence of an anal opening due to the persistence of the epithelial plug (persistence of the anal membrane) or to complete absence of the anal canal |
| HP:0007676 | Hypoplasia of the iris | MP:0011481 | anterior iris synechia | adhesion of the iris to the cornea |
| HP:0001770 | Toe syndactyly | MP:0000564 | syndactyly | any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone |
| HP:0003758 | Reduced subcutaneous adipose tissue | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0006554 | Acute hepatic failure | MP:0002628 | hepatic steatosis | an accumulation of fat deposits in the liver |
| 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:0000023 | Inguinal hernia | MP:0010146 | umbilical hernia | an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close |
| 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:0006482 | Abnormality of dental morphology | 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:0001537 | Umbilical hernia | MP:0010146 | umbilical hernia | an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close |
| HP:0001597 | Abnormality of the nail | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0000370 | Abnormality of the middle ear | MP:0010465 | aberrant origin of the right subclavian artery | the right subclavian artery arises from an atypical location on the aortic arch or the proximal descending aorta |
| HP:0000003 | Multicystic kidney dysplasia | MP:0011376 | abnormal kidney corticomedullary boundary morphology | any structural anomaly of the region demarcating the renal medulla from the surrounding cortex; end-stage renal failure may be associated with loss of the normal corticomedullary boundary |
| 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: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:0008065 | Aplasia/Hypoplasia of the skin | 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:0001161 | Hand polydactyly | MP:0009744 | postaxial polydactyly | duplication of all or part of any of the rays except the first ray on one or more of the autopods |
| 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:0000682 | Abnormality of dental enamel | 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:0006703 | Aplasia/Hypoplasia of the lungs | MP:0010728 | fusion of atlas and occipital bones | union of elements of the atlas and the bone at the lower, posterior part of the skull into one structure |
| HP:0100490 | Camptodactyly of finger | 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:0100559 | Lower limb asymmetry | MP:0011504 | abnormal limb long bone morphology | any structural anomaly of any of the several elongated bones of the extremities |
| 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: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 |
| HP:0100670 | Rough bone trabeculation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002414 | Spina bifida | MP:0003054 | spina bifida | common congenital midline defect of fusion of the vertebral arch |
| HP:0007957 | Corneal opacity | MP:0009859 | eye opacity | changes in the eye grossly observed as a milky or cloudy appearance that may be progressive and persistent throughout life |
| 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 |
Mapped by homologous gene(Total Items:65) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0006554 | Acute hepatic failure | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005930 | Abnormality of epiphysis morphology | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0002247 | Duodenal atresia | 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: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:0001161 | Hand polydactyly | 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: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:0000370 | Abnormality of the middle ear | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0004334 | Dermal atrophy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001018 | Abnormal palmar dermatoglyphics | 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:0001482 | Subcutaneous nodule | MP:0013542 | abnormal submandibular gland branching morphogenesis | |
| 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:0000682 | Abnormality of dental enamel | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0007676 | Hypoplasia of the iris | 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:0045026 | Abnormality of the mediastinum | MP:0010685 | abnormal hair follicle inner root sheath morphology | any structural anomaly of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer a |
| HP:0006482 | Abnormality of dental morphology | MP:0014176 | abnormal cilary zonule morphology | any structural anomaly of the circumferential suspensory ligaments that anchor the lens to the ciliary process and are made of bundles of fibrillin microfibrils, an elaborate system of fibers that spans the gap between the lens and the adjacent nonpigment |
| HP:0000324 | Facial asymmetry | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000003 | Multicystic kidney dysplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0001770 | Toe syndactyly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008839 | Hypoplastic pelvis | 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:0000776 | Congenital diaphragmatic hernia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0003758 | Reduced subcutaneous adipose tissue | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0001839 | Split foot | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000126 | Hydronephrosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001539 | Omphalocele | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000894 | Short clavicles | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001000 | Abnormality of skin pigmentation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0007957 | Corneal opacity | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002414 | Spina bifida | 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:0009804 | Reduced number of teeth | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000446 | Narrow nasal bridge | 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:0001171 | Split hand | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006101 | Finger syndactyly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0009124 | Abnormality of adipose tissue | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0100490 | Camptodactyly of finger | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000963 | Thin skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000612 | Iris coloboma | MP:0013791 | absent external nares | absence or failure to form both of the anterior openings to the nasal cavity |
| HP:0001597 | Abnormality of the nail | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0100559 | Lower limb asymmetry | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0010807 | Open bite | 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:0100790 | Hernia | 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:0002020 | Gastroesophageal reflux | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0008678 | Renal hypoplasia/aplasia | 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:0001537 | Umbilical hernia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0200036 | Skin nodule | MP:0013601 | increased testis apoptosis | increase in the number of cells of the male reproductive glands undergoing programmed cell death |
| HP:0000023 | Inguinal hernia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000773 | Short ribs | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000369 | Low-set ears | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| 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:0008065 | Aplasia/Hypoplasia of the skin | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100670 | Rough bone trabeculation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001540 | Diastasis recti | 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:0000307 | Pointed chin | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0001083 | Ectopia lentis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001596 | Alopecia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| Disease ID | 220 |
|---|---|
| Disease | focal dermal hypoplasia |
| Case | (Waiting for update.) |