eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| eec syndrome | ||||
| Disease ID | 1316 |
|---|---|
| Disease | eec syndrome |
| Synonym | cleft lip-cleft palate-lobster claw deformity syndrome ectodermal dysplasia with ectrodactyly and cleft lip or palate ectrodactyly-cleft lip-palate syndrome ectrodactyly-ectodermal dysplasia-clefting (eec) syndrome ectrodactyly-ectodermal dysplasia-clefting syndrome ectrodactyly-ectodermal dysplasia-clefting syndrome (disorder) eec - ectodermal dysplasia with ectrodactyly and cleft lip or palate rudiger syndrome rudiger syndrome 1 rudiger's syndrome walker-clodius syndrome |
| Orphanet | |
| OMIM | |
| UMLS | C0406704 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:14) 8289 | ARID1A | 1.745 | DISEASES 9249 | DHRS3 | 3.671 | DISEASES 1810 | DR1 | 2.494 | DISEASES 2187 | FANCB | 2.637 | DISEASES 2317 | FLNB | 2.448 | DISEASES 2736 | GLI2 | 1.788 | DISEASES 3664 | IRF6 | 1.565 | DISEASES 3980 | LIG3 | 1.882 | DISEASES 5518 | PPP2R1A | 2.858 | DISEASES 5527 | PPP2R5C | 3.525 | DISEASES 145270 | PRIMA1 | 3.47 | DISEASES 55269 | PSPC1 | 3.765 | DISEASES 6622 | SNCA | 3.058 | DISEASES 7161 | TP73 | 2.481 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) TP63 | 3q28 |
| Disease ID | 1316 |
|---|---|
| Disease | eec syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:68) HP:0000670 | Carious teeth HP:0008404 | Nail dystrophy HP:0000068 | Urethral atresia HP:0000535 | Sparse eyebrow HP:0000682 | Abnormality of dental enamel HP:0004322 | Short stature HP:0002213 | Fine hair HP:0000453 | Choanal atresia HP:0001770 | Toe syndactyly HP:0007513 | Generalized hypopigmentation HP:0000824 | Growth hormone deficiency HP:0008714 | Ureterovesical stenosis HP:0000217 | Xerostomia HP:0000954 | Simian creases HP:0000047 | Hypospadias HP:0001171 | Split hand HP:0008678 | Renal hypoplasia/aplasia HP:0006101 | Finger syndactyly HP:0100533 | Inflammatory abnormality of the eye HP:0000126 | Hydronephrosis HP:0200020 | Corneal erosion HP:0006709 | Aplasia/Hypoplasia of the nipples HP:0000359 | Abnormality of the inner ear HP:0100257 | Ectrodactyly HP:0000574 | Thick eyebrow HP:0002007 | Frontal protruberance HP:0000778 | Hypoplasia of the thymus HP:0000407 | Sensorineural hearing impairment HP:0009804 | Reduced number of teeth HP:0002208 | Coarse hair HP:0000076 | Vesicoureteral reflux HP:0000632 | Lacrimation abnormality HP:0000962 | Hyperkeratosis HP:0008065 | Aplasia/Hypoplasia of the skin HP:0000175 | Cleft palate HP:0002665 | Lymphoma HP:0000966 | Hypohidrosis HP:0000138 | Ovarian cyst HP:0001803 | Nail pits HP:0005280 | Flat, nasal bridge HP:0011927 | Short digit HP:0001609 | Hoarseness HP:0000813 | Bicornuate uterus HP:0000498 | Blepharitis HP:0001042 | High axial triradius HP:0009623 | Proximal placement of thumb HP:0000370 | Abnormality of the middle ear HP:0000491 | Keratitis HP:0003764 | Nevus HP:0010311 | Aplasia/Hypoplasia of the breasts HP:0000830 | Anterior hypopituitarism HP:0000023 | Inguinal hernia HP:0001249 | Intellectual disability HP:0000202 | Oral cleft HP:0000679 | Taurodontia HP:0009601 | Aplasia/Hypoplasia of the thumb HP:0000691 | Microdontia HP:0001371 | Flexion contractures of joints HP:0000958 | Dry skin HP:0002217 | Slow-growing hair HP:0000613 | Photophobia HP:0000621 | Entropion HP:0000280 | Coarse facial features HP:0001839 | Split foot HP:0008572 | External ear malformation HP:0011220 | Prominent forehead HP:0000054 | Short penis HP:0001804 | Underdeveloped fingernail |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:9) HP:0100257 | Cleft hand | 2 HP:0000668 | Failure of development of between one and six teeth | 1 HP:0001263 | Developmental retardation | 1 HP:0000968 | Ectodermal dysplasia | 1 HP:0000691 | Decreased width of tooth | 1 HP:0003764 | Naevus | 1 HP:0006297 | Hypoplasia of tooth enamel | 1 HP:0012165 | Oligodactyly | 1 HP:0001636 | Tetrology of fallot | 1 |
| Disease ID | 1316 |
|---|---|
| Disease | eec syndrome |
| Manually Symptom | (Waiting for update.) |
| 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:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908835 | 22607287 | 8626 | TP63 | umls:C0406704 | BeFree | Here, we report a three-generation family with ADULT syndrome due to an R243W mutation in TP63, a mutation that has previously been described in one patient with ADULT syndrome and eight unrelated patients with EEC syndrome. | 0.246786047 | 2012 | TP63 | 3 | 189864379 | C | T |
| rs121908836 | 17431922 | 8626 | TP63 | umls:C0406704 | BeFree | Of the six cases/families now reported with EEC syndrome and Arg227Gln TP63 mutation, four have manifested this distinct urological abnormality, indicative of a genotype-phenotype correlation. | 0.246786047 | 2007 | TP63 | 3 | 189864380 | 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:31) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000670 | Carious teeth | MP:0004033 | supernumerary teeth | occurrence of more than the usual number of teeth |
| HP:0002208 | Coarse 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:0009601 | Aplasia/Hypoplasia of the thumb | 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: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: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: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:0000453 | Choanal atresia | MP:0009510 | cecal atresia | congenital blockage or absence of the lumen of the cecum |
| 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: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:0000202 | Oral cleft | MP:0009890 | cleft secondary palate | congenital fissure of the tissues normally uniting to form the secondary palate |
| 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:0000958 | Dry skin | MP:0010678 | abnormal skin adnexa morphology | any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails |
| HP: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:0000824 | Growth hormone deficiency | MP:0003965 | abnormal pituitary hormone level | aberration in the blood or tissue concentration of any of the hormones secreted by the pituitary |
| HP:0000778 | Hypoplasia of the thymus | 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:0100533 | Inflammatory 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:0000175 | Cleft palate | MP:0013550 | abnormal secondary palate morphology | |
| HP:0010311 | Aplasia/Hypoplasia of the breasts | MP:0006271 | abnormal involution of the mammary gland | anomaly in the process during which mammary glands suspend milk protein production, the mammary alveolar structures collapse and secretory epithelial cells are lost |
| 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:0007513 | Generalized hypopigmentation | MP:0005408 | hypopigmentation | dilution of pigment in any or all tissues or a part of a tissue |
| 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:0008572 | External ear malformation | MP:0006286 | inner ear hypoplasia | underdevelopment or reduced size of inner ear structures, usually due to decreased cell number |
| 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:0009623 | Proximal placement of thumb | MP:0009886 | failure of palatal shelf elevation | the palatal shelves fail to move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue |
| HP:0000280 | Coarse facial features | MP:0008018 | increased facial tumor incidence | greater than the expected number of neoplasms on the face, usually in the form of a distinct mass, in a specific population in a given time period |
| HP:0000813 | Bicornuate uterus | MP:0003558 | absent uterus | absence of the female muscular organ of 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: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:0006709 | Aplasia/Hypoplasia of the nipples | 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: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:0000076 | Vesicoureteral reflux | MP:0001948 | vesicoureteral reflux | the retrograde flow of urine from the bladder into the ureters and kidneys |
Mapped by homologous gene(Total Items:67) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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:0001609 | Hoarse voice | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| 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: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: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:0000054 | Micropenis | 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:0006709 | Aplasia/Hypoplasia of the nipples | 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: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: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:0001371 | Flexion contracture | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| 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:0000682 | Abnormality of dental enamel | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000535 | Sparse eyebrow | 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:0000824 | Growth hormone deficiency | 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:0010311 | Aplasia/Hypoplasia of the breasts | MP:0009937 | abnormal neuron differentiation | abnormal growth or development of the cells of the nervous system that receive, conduct, and transmit impulses |
| HP:0008404 | Nail dystrophy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000047 | Hypospadias | 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: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:0001770 | Toe syndactyly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001804 | Hypoplastic fingernail | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000138 | Ovarian cyst | 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: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: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:0200020 | Corneal erosion | MP:0020087 | increased susceptibility to non-insulin-dependent diabetes | increased likelihood to develop non-insulin-dependent diabetes |
| HP:0002208 | Coarse hair | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0100257 | Ectrodactyly | 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:0005280 | Depressed nasal bridge | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100533 | Inflammatory abnormality of the eye | 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:0009601 | Aplasia/Hypoplasia of the thumb | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0009804 | Reduced number of teeth | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000679 | Taurodontia | MP:0014124 | increased amylin secretion | greater than normal production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiet |
| HP:0000813 | Bicornuate uterus | 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: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:0000670 | Carious teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0000966 | Hypohidrosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0000954 | Single transverse palmar crease | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003764 | Nevus | 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:0001042 | High axial triradius | 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:0000962 | Hyperkeratosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002665 | Lymphoma | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0011927 | Short digit | MP:0013886 | increased CD4-negative, CD25-positive NK T cell number | increase in the number of CD4-negative NK T cells expressing the activation marker CD25 |
| HP:0011220 | Prominent forehead | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells 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:0000691 | Microdontia | 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:0000778 | Hypoplasia of the thymus | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000621 | Entropion | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000280 | Coarse facial features | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| 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:0000202 | Oral cleft | 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:0000613 | Photophobia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0009623 | Proximal placement of thumb | 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: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:0000958 | Dry skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0008065 | Aplasia/Hypoplasia of the skin | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002007 | Frontal bossing | 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:0001803 | Nail pits | MP:0014130 | thymus cysts | presence of fluid-filled spaces lined by epithelium within the thymus; thymic cysts are rare mediastinal lesions and are thought to result from the congenital persistence of thymopharyngeal tracts and acquired, progressive cystic degeneration of thymic (H |
| HP:0000217 | Xerostomia | 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:0000068 | Urethral atresia | MP:0012739 | abnormal anterior primitive streak morphology | any structural anomaly of the anterior region of the vertebrate primitive streak which gives rise to the axial and paraxial mesoderm, the definitive endoderm, the primitive groove, and the primitive node |
| HP:0000491 | Keratitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000498 | Blepharitis | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0007513 | Generalized hypopigmentation | 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 |
| Disease ID | 1316 |
|---|---|
| Disease | eec syndrome |
| Case | (Waiting for update.) |