eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| woolly hair | ||||
| Disease ID | 1194 |
|---|---|
| Disease | woolly hair |
| Synonym | wooley hair wooly hair wooly hair (disorder) |
| Orphanet | |
| UMLS | C0343073 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:13) C0878544 | cardiomyopathy | 4 C0020678 | hypotrichosis | 3 C0022596 | palmoplantar keratoderma | 2 C0002170 | alopecia | 2 C0334082 | epidermal nevus | 1 C0079298 | epidermolysis bullosa simplex | 1 C0002171 | alopecia areata | 1 C0022593 | keratosis | 1 C0007193 | dilated cardiomyopathy | 1 C0013575 | ectodermal dysplasia | 1 C0022595 | keratosis follicularis | 1 C0265334 | pachyonychia congenita | 1 C0014527 | epidermolysis bullosa | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:5) |
| Disease ID | 1194 |
|---|---|
| Disease | woolly hair |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:12) HP:0000615 | Abnormality of the pupil HP:0000479 | Abnormality of the retina HP:0000518 | Cataract HP:0010719 | Abnormality of hair texture HP:0005599 | Hypopigmentation of hair HP:0000486 | Strabismus HP:0002217 | Slow-growing hair HP:0002213 | Fine hair HP:0002231 | Sparse body hair HP:0002299 | Brittle hair HP:0005338 | Sparse lateral eyebrow HP:0002224 | Woolly hair |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:12) HP:0001006 | Marked hypotrichosis | 5 HP:0001638 | Cardiomyopathy | 4 HP:0000982 | Palmoplantar keratoderma | 2 HP:0001596 | Hair loss | 2 HP:0011709 | Atrioventricular dissociation | 1 HP:0001644 | Congestive cardiomyopathy | 1 HP:0007404 | Nonepidermolytic palmoplantar keratoderma | 1 HP:0010816 | Epidermal nevus | 1 HP:0002229 | Alopecia areata | 1 HP:0009886 | Trichorrhexis nodosa | 1 HP:0000968 | Ectodermal dysplasia | 1 HP:0040169 | Loose anagen hair | 1 |
| Disease ID | 1194 |
|---|---|
| Disease | woolly hair |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0334082 | epidermal naevus |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002213 | Fine hair | 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:0002224 | Woolly hair | 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:0002299 | Brittle hair | 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:0010719 | Abnormality of hair texture | 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:0002231 | Sparse body hair | MP:0010682 | abnormal hair follicle infundibulum morphology | any structural anomaly of the most proximal part of the hair follicle relative to the epidermis, extending from the sebaceous duct to the epidermal surface |
| HP:0002217 | Slow-growing hair | 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:0005599 | Hypopigmentation of hair | MP:0009657 | failure of chorioallantoic fusion | failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois |
| HP:0000615 | Abnormality of the pupil | MP:0009657 | failure of chorioallantoic fusion | failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois |
Mapped by homologous gene(Total Items:11) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0005599 | Hypopigmentation of hair | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0000518 | Cataract | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0010719 | Abnormality of hair texture | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| 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:0002213 | Fine hair | MP:0013897 | decreased eyelid cilium number | reduction in the number of the hairs that grow at the edge of the upper or lower eyelid |
| HP:0002299 | Brittle hair | 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:0002231 | Sparse body hair | MP:0014082 | decreased small intestinal villus height | decreased height of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; usually accompanied by crypt elongation or hy |
| HP:0002217 | Slow-growing hair | MP:0013897 | decreased eyelid cilium number | reduction in the number of the hairs that grow at the edge of the upper or lower eyelid |
| HP:0000615 | Abnormality of the pupil | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002224 | Woolly hair | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0005338 | Sparse lateral eyebrow | MP:0014175 | abnormal ciliary epithelium morphology | any structural anomaly of the double layer lining the inner surfaces of the ciliary processes and the pars plana (i.e. the posterior portion of the ciliary body, aka orbicularis ciliari); the outer layer is the pigmented epithelium, which is composed of l |
| Disease ID | 1194 |
|---|---|
| Disease | woolly hair |
| Case | (Waiting for update.) |