cervical villoglandular adenocarcinoma

description: A cervical adenocarcinoma characterized by the presence of a prominent villoglandular pattern.


endometrial serous adenocarcinoma

category: biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor.


ovarian serous cystadenocarcinoma

description: A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features.


name: intestinal variant cervical mucinous adenocarcinoma

description: A cervical mucinous adenocarcinoma that resembles the large intestinal adenocarcinoma.


ovarian cystadenocarcinoma

description: An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma.


cervical adenosquamous carcinoma

description: An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells.


ovarian mucinous cystadenocarcinoma

description: An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis.


malignant epithelial tumor of ovary

description: An invasive malignant tumor that originates from the surface epithelium of the ovary. It is composed of malignant epithelial cells and stroma. Representative examples include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, clear cell adenocarcinoma, and malignant Brenner tumor.


name: secretory uterine corpus endometrioid adenocarcinoma

description: An endometrioid adenocarcinoma arising from the endometrium. Morphologically it is characterized by the presence of malignant glandular cells containing glycogen vacuoles which are usually subnuclear and reminiscent of early secretory endometrium.


cervical adenoid cystic carcinoma

description: A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present.


cervical small cell carcinoma

description: A small cell carcinoma arising from the cervix.


uterine cervix carcinoma in situ

description: Stage 0 includes: (Tis, N0, M0). Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.) - 2003


malignant ovarian Brenner tumor

description: A malignant neoplasm that arises from the ovary and is characterized by the presence of an invasive malignant transitional cell component and nests of benign transitional cells in a fibrotic stroma. When the neoplasm is confined to the ovary, the prognosis is good.


cervical verrucous carcinoma

description: A highly differentiated variant of cervical squamous cell carcinoma characterized by the presence of a warty surface and stromal invasion with pushing borders. The malignant cells have abundant cytoplasm and minimal nuclear atypia. Koilocytosis is not present.


prostate carcinoma

description: A carcinoma that arises from epithelial cells of the prostate gland.


diffuse type adenocarcinoma

description: An adenocarcinoma characterized by the presence of a diffuse cellular infiltrate which is composed of poorly cohesive cells with minimal or no glandular formations. Representative example is the gastric diffuse adenocarcinoma.


name: cervical mucinous adenocarcinoma, minimal deviation variant

description: A rare, extremely well differentiated cervical mucinous adenocarcinoma in which most of the neoplastic glands cannot be distinguished from the normal endocervical glands.


name: signet ring cell variant cervical mucinous adenocarcinoma

description: A rare cervical mucinous adenocarcinoma characterized by the presence of signet ring cells.


endometrial mixed adenocarcinoma

description: An adenocarcinoma that arises from the endometrium and is characterized by the presence of both type I and type II endometrial adenocarcinoma components. The minor component constitutes at least 5% of the entire tumor.


early invasive cervical adenocarcinoma

description: A cervical adenocarcinoma with minimal stromal invasion. The risk of local lymph node metastasis is insignificant and the prognosis is excellent.


angiokeratoma

description: A vascular lesion in the papillary dermis resulting from ectasia of pre-existing vessels. It is associated with secondary proliferative changes in the overlying epidermis (hyperkeratosis). It can present with widespread lesions (angiokeratoma corporis diffusum, often associated with inborn errors of metabolism) or as a localized lesion (angiokeratoma of Fordyce, angiokeratoma circumscriptum, and angiokeratoma of Mibelli).


uterine ligament serous adenocarcinoma

description: A rare serous adenocarcinoma that arises from the uterine ligament.


uterine ligament adenocarcinoma

description: A rare adenocarcinoma that arises from the uterine ligament.


endometrial squamous cell carcinoma

description: A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells.


glandular cell neoplasm

description: A benign or malignant, primary or metastatic epithelial neoplasm affecting the glandular cells.


ovarian clear cell cystadenocarcinoma

description: A malignant glandular epithelial neoplasm arising from the ovary. It is characterized by the presence of clear and hobnail cells and cystic structures.


name: uterine ligament endometrioid adenocarcinoma

description: A rare endometrioid adenocarcinoma that arises from the uterine ligament. Some of the reported cases were associated with endometriosis.


name: ephrin type-A receptor 3, signal peptide removed phosphorylated 1 (human)

description: An ephrin type-A receptor 3 (human) that has had the signal peptide removed and has been post-translationally modified to include phosphotyrosine at positions 596 and 602 of the amino acid sequence represented by UniProtKB:P29320. UniProtKB:P29320, 21-983, Tyr-596/Tyr-602, MOD:00048.


isoflavonoid

Any 1-benzopyran with an aryl substituent at position 3. The term was originally restricted to natural products, but is now also used to describe semi-synthetic and fully synthetic compounds.


isoflavones

Any isoflavonoid with a 3-aryl-1-benzopyran-4-one (3-aryl-4H-chromen-4-one) skeleton and its substituted derivatives.


glycosyloxyisoflavone

A member of the class of isoflavones having one or more glycosyl residues attached at unspecified positions.


Any methoxyisoflavone which has a methoxy group at the 4-position of the phenyl substituent.


hydroxyisoflavanone

Any member of the class of isoflavanones with at least one hydroxy substituent.


methoxyisoflavanone

Members of the class of isoflavanones with at least one methoxy substituent.


methoxyisoflavone

Members of the class of isoflavones with at least one methoxy substituent.


7-HYDROXY ISOFLAVONE

The simplest member of the class of 7-hydroxyisoflavones that is isoflavone with a hydroxy substituent at position 7.


Any methoxyisoflavone that has a methoxy group at the 7-position of the isoflavone moiety.


hydroxyisoflavans

A member of the class of isoflavans in which one or more ring hydrogens are replaced by hydroxy groups.


isoflavans

Any isoflavonoid with a 3,4-dihydro-3-aryl-2H-1-benzopyran skeleton and its substituted derivatives.


A hydroxyisoflavone compound having a hydroxy group at the 7-position.


isoflavanones

Members of the class of isoflavans that have a 3,4-dihydro-3-aryl-2H-1-benzopyran-4-one skeleton and its substituted derivatives.


hydroxyisoflavone

Member of the class of isoflavones bearing at least one hydroxy group.


A glycosyloxyisoflavone that is any 7-hydroxyisoflavone compound in which the 7-hydroxy group has been converted into its corresponding O-beta-D-glucoside.


Unresectable Lung Small Cell Carcinoma

description: Lung small cell carcinoma that is not amenable to surgical resection.


name: testis anion transporter 1 isoform h3 (human)

description: A testis anion transporter 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96RN1-3.


adrenal gland hyperfunction

description: Excess production of adrenal cortex hormones.


name: CEACAM1a-2S, signal peptide removed N-glycosylasparagine form (mouse)

description: A CEACAM1a-2S, signal peptide removed form (mouse) that includes at least one N-glycosylasparagine. UniProtKB:P31809-4, 35-278, MOD:00160.


CEACAM1a-2S (mouse)

A carcinoembryonic antigen-related cell adhesion molecule 1 sequence variant CEACAM1a (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q3LFS8. This form contains the two copies of the Ig domain and is the version with shorter cytoplasmic tail.


name: CEACAM1a-2S, signal peptide removed form (mouse)

description: A CEACAM1a-2S (mouse) that has had the signal peptide removed. UniProtKB:P31809-4, 35-278.


name: NAD(P)H dehydrogenase [quinone] 1 isoform 1 (human)

description: An NAD(P)H dehydrogenase [quinone] 1 isoform 1 that is encoded in the genome of human.


name: NAD(P)H dehydrogenase [quinone] 1 isoform 1 acetylated 1 (human)

description: An NAD(P)H dehydrogenase [quinone] 1 isoform 1 (human) that is N-terminal Met acetylated. UniProtKB:P15559-1, Met-1, MOD:00058.


name: dual specificity mitogen-activated protein kinase kinase 5 isoform A (human)

description: A dual specificity mitogen-activated protein kinase kinase 5 isoform 2 that is encoded in the genome of human.


A  dibenzoazepine that is 10,11-dihydro-5H-dibenzo[b,f]azepine-5-carboxamide substituted by hydroxy groups at positions 10 and 11. It is a metabolite of the drug carbamazepine.


name: fatty acid CoA ligase Acsl3 deaminated 1 (human)

description: A fatty acid CoA ligase Acsl3 (human) that has been deaminated on the residue at the position equivalent to Asn-444 of the amino acid sequence represented by UniProtKB:O95573. UniProtKB:O95573, Asn-444, MOD:00684.


name: Metastatic Ovarian Serous Adenocarcinoma

description: Ovarian serous adenocarcinoma that has spread from its original site of growth to another anatomic site.


name: Platinum-Resistant Ovarian High Grade Serous Adenocarcinoma

description: Ovarian high-grade serous adenocarcinoma that progresses between one and six months of completing platinum therapy.


name: Unresectable Ovarian Serous Adenocarcinoma

description: Ovarian serous adenocarcinoma that is not amenable to surgical resection.


name: Unresectable Ovarian High Grade Serous Adenocarcinoma

description: Ovarian high-grade serous adenocarcinoma that is not amenable to surgical resection.


name: high grade serous adenocarcinoma of ovary

description: A rapidly growing serous adenocarcinoma that arises from the ovary. It is characterized by the presence of high grade cytologic features and frequent mitotic figures.


name: Refractory Ovarian Low Grade Serous Adenocarcinoma

description: Ovarian low-grade serous adenocarcinoma that is resistant to treatment.


name: low grade serous adenocarcinoma of ovary

description: A slow-growing serous adenocarcinoma that arises from the ovary.  It usually originates from borderline neoplastic processes or adenofibromas.  It is characterized by the presence of low grade cytologic features and infrequent mitotic figures.


name: Recurrent Ovarian High Grade Serous Adenocarcinoma

description: The reemergence of ovarian high-grade serous adenocarcinoma after a period of remission.


name: Recurrent Ovarian Low Grade Serous Adenocarcinoma

description: The reemergence of ovarian low-grade serous adenocarcinoma after a period of remission.


name: Advanced Ovarian Serous Cystadenocarcinoma

description: Ovarian serous cystadenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


name: Locally Advanced Ovarian Serous Cystadenocarcinoma

description: Ovarian serous cystadenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


Advanced Ovarian Serous Adenocarcinoma

description: Ovarian serous adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


name: Advanced Ovarian High Grade Serous Adenocarcinoma

description: An ovarian high-grade serous adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


name: Refractory Ovarian High Grade Serous Adenocarcinoma

description: Ovarian high-grade serous adenocarcinoma that is resistant to treatment.


name: Refractory Ovarian Serous Adenocarcinoma

description: Ovarian serous adenocarcinoma that is resistant to treatment.


name: Metastatic Ovarian High Grade Serous Adenocarcinoma

description: Ovarian high-grade serous adenocarcinoma that has spread from its original site of growth to another anatomic site.


Recurrent Ovarian Serous Adenocarcinoma

description: The reemergence of ovarian serous adenocarcinoma after a period of remission.


name: Locally Advanced Ovarian Serous Adenocarcinoma

description: Ovarian serous adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


name: Recurrent Platinum-Resistant Ovarian High Grade Serous Adenocarcinoma

description: The reemergence of platinum-resistant ovarian high-grade serous adenocarcinoma after a period of remission.


name: Metastatic Ovarian Serous Cystadenocarcinoma

description: Ovarian serous cystadenocarcinoma that has spread from the original site of growth to other anatomic sites.


name: Platinum-Refractory Ovarian High Grade Serous Adenocarcinoma

description: Ovarian high-grade serous adenocarcinoma that progresses during platinum therapy or within one month of completing platinum therapy.


name: Recurrent Ovarian Serous Cystadenocarcinoma

description: The reemergence of ovarian serous cystadenocarcinoma after a period of remission.


name: Locally Advanced Unresectable Ovarian High Grade Serous Adenocarcinoma

description: An ovarian high-grade serous adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


name: carbonyl reductase [NADPH] 1 methylated 1 (human)

description: A carbonyl reductase [NADPH] 1 (human) that has been methylated on the residue at the position equivalent to Cys-150 of the amino acid sequence represented by UniProtKB:P16152-1. Example: UniProtKB:P16152-1, Cys-150, MOD:00660.


hypoalphalipoproteinemia

description: A metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood.


Hypocholesterolemia

category: biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: An decreased concentration of cholesterol in the blood.


hypobetalipoproteinemia

description: A group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol.


epidermal retinol dehydrogenase 2

A protein that is a translation product of the human SDR16C5 gene or a 1:1 ortholog thereof.


name: epidermal retinol dehydrogenase 2 isoform 1 (human)

description: An epidermal retinol dehydrogenase 2 isoform 1 that is encoded in the genome of human.


name: epidermal retinol dehydrogenase 2 isoform h2 (human)

description: An epidermal retinol dehydrogenase 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8N3Y7-2.


name: ATP-dependent RNA helicase DHX30 isoform 1 (human)

description: An ATP-dependent RNA helicase DHX30 isoform 1 that is encoded in the genome of human.


DNA polymerase lambda

A protein that is a translation product of the human POLL gene or a 1:1 ortholog thereof.


name: DNA polymerase lambda methylated 1 (human)

description: A DNA polymerase lambda (human) that has been methylated on the residue at the position equivalent to Cys-300 of the amino acid sequence represented by UniProtKB:Q9UGP5-1. Example: UniProtKB:Q9UGP5-1, Cys-300, MOD:00660.


name: DNA polymerase lambda isoform h1 (human)

description: A DNA polymerase lambda (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9UGP5-1.


name: DNA polymerase lambda isoform h2 (human)

description: A DNA polymerase lambda (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9UGP5-2.


name: tyrosine-protein kinase JAK1 deaminated 4 (human)

description: A tyrosine-protein kinase JAK1 (human) that has been deaminated on the residue at the position equivalent to Gln-565 of the amino acid sequence represented by UniProtKB:P23458. UniProtKB:P23458, Gln-565, MOD:00685.


name: transmembrane protease serine 6 isoform h3 (human)

description: A transmembrane protease serine 6 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8IU80-2.


name: GTPase KRas isoform 2A farnesylated 1 (human)

description: A GTPase KRas isoform 2A (human) that has been farnesylated on the residue at the position equivalent to Cys-186 of the amino acid sequence represented by UniProtKB:P01116-1. UniProtKB:P01116-1, Cys-186, MOD:00111.


GTPase KRas farnesylated 1 (human)

A GTPase KRas (human) that has been farnesylated on the residue at the position equivalent to Cys-186 of the amino acid sequence represented by UniProtKB:P01116-1. Example: UniProtKB:P01116-1, Cys-186, MOD:00111.


GTPase KRas isoform 2A (human)

A GTPase KRas isoform 1 that is encoded in the genome of human.


GTPase KRas isoform 2B (human)

A GTPase KRas isoform 2 that is encoded in the genome of human.


GTPase KRas deaminated 1 (human)

A GTPase KRas (human) that has been deaminated on the residue at the position equivalent to Gln-43 of the amino acid sequence represented by UniProtKB:P01116-1. Example: UniProtKB:P01116-1, Gln-43, MOD:00685.


name: GTPase KRas isoform 2B farnesylated 1 (human)

description: A GTPase KRas isoform 2B (human) that has been farnesylated on the residue at the position equivalent to Cys-185 of the amino acid sequence represented by UniProtKB:P01116-2. UniProtKB:P01116-2, Cys-185, MOD:00111.


name: follicle-stimulating hormone receptor deaminated 1 (human)

description: A follicle-stimulating hormone receptor (human) that has been deaminated on the residue at the position equivalent to Asn-93 of the amino acid sequence represented by UniProtKB:P23945-1. Example: UniProtKB:P23945-1, Asn-93, MOD:00684.


Ras and Rab interactor 1

A protein that is a translation product of the human RIN1 gene or a 1:1 ortholog thereof.


name: Ras and Rab interactor 1 methylated 1 (human)

description: A Ras and Rab interactor 1 (human) that has been methylated on the residue at the position equivalent to Cys-550 of the amino acid sequence represented by UniProtKB:Q13671-1. Example: UniProtKB:Q13671-1, Cys-550, MOD:00660.


name: Ras and Rab interactor 1 isoform hRIN1 (human)

description: A Ras and Rab interactor 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13671-1.


name: Ras and Rab interactor 1 isoform hRIN1-delta (human)

description: A Ras and Rab interactor 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13671-2.


name: denticleless protein homolog cysteinylated 1 (human)

description: A denticleless protein homolog (human) that has been cysteinylated on the residue at the position equivalent to Cys-559 of the amino acid sequence represented by UniProtKB:Q9NZJ0-1. Example: UniProtKB:Q9NZJ0-1, Cys-559, MOD:00765.


Adrenal hypoplasia

description: Developmental hypoplasia of the adrenal glands.


name: serine/threonine-protein kinase PAK 3 isoform 2 (human)

description: A serine/threonine-protein kinase PAK 3 isoform 2 that is encoded in the genome of human.


inherited retinal dystrophy

description: An instance of retinal degeneration that is caused by an inherited modification of the individual's genome.


optic atrophy

description: A disorder characterized by loss of optic nerve fibers. It may be inherited or acquired. Acquired causes include ischemia, optic nerve neuropathy, glaucoma, trauma, radiation, brain tumors, and multiple sclerosis. It leads to vision disturbances.


entropion

description: The turning inward (inversion) of the edge of the eyelid, with the tarsal cartilage turned inward toward the eyeball. (Dorland, 27th ed)


lens disorder

description: A disease involving the lens of camera-type eye.


retinal disorder

description: Any disease or disorder of the retina.


Leber hereditary optic neuropathy

description: Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers.


retinal degeneration

description: Degeneration of the retina.


progressive external ophthalmoplegia

description: A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)


optic choroid disorder

description: A disease involving the optic choroid.


eye disorder

description: A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma.


name: sodium/potassium/calcium exchanger 5, signal peptide removed form (human)

description: A sodium/potassium/calcium exchanger 5 (human) that has had the signal peptide removed. UniProtKB:Q71RS6, 30-500.


name: Rho GTPase-activating protein 32 isoform h3 (human)

description: A Rho GTPase-activating protein 32 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:A7KAX9-3.


name: procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 isoform h2 (human)

description: A procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q02809-2.


name: ferritin light chain, initiator methionine removed form (human)

description: A ferritin light chain (human) that has had the initiator methionine removed. UniProtKB:P02792, 2-175.


name: DNA replication licensing factor MCM6 methylated 1 (human)

description: A DNA replication licensing factor MCM6 (human) that has been methylated on the residue at the position equivalent to Cys-242 of the amino acid sequence represented by UniProtKB:Q14566. UniProtKB:Q14566, Cys-242, MOD:00660.


name: ADP/ATP translocase 3 methylated 1 (human)

description: An ADP/ATP translocase 3 (human) that has been methylated on the residue at the position equivalent to Cys-57 of the amino acid sequence represented by UniProtKB:P12236. UniProtKB:P12236, Cys-57, MOD:00660.


spinal cord disorder

description: A disease involving the spinal cord.


Abnormality of immune system physiology

description: A functional abnormality of the immune system.


name: Abnormal urinary electrolyte concentration

description: An abnormality in the concentration of electrolytes in the urine.


atopic eczema

description: A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema.


Lacunar stroke

description: A stroke related to a small infarct (2-20 mm in diameter) in the deep cerebral white matter, basal ganglia, or pons, that is presumed to result from the occlusion of a single small perforating artery supplying the subcortical areas of the brain.


Fetal anomaly

description: Structural or functional abnormalities of the fetus. Note that this section comprises terms that describe abnormalities that are specific to the fetus or differ from the corresponding general terms. A term from anywhere in the Human Phenotype Ontology can be applied to a fetus if appropriate.


dermatitis

description: An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis.


Moderate generalized osteoporosis

description: Moderate osteoporosis.


Organic aciduria

description: Excretion of non-amino organic acids in urine.


Abnormal urine phosphate concentration

description: An abnormal phosphate concentration in the urine.


Abnormality of the vasculature

description: An abnormality of the vasculature.


name: Abnormal circulating cholesterol concentration

description: Any deviation from the normal concentration of cholesterol in the blood circulation.


Abnormal adrenal morphology

description: Any structural anomaly of the adrenal glands.


Generalized abnormality of skin

description: An abnormality of the skin that is not localized to any one particular region.


name: Abnormal circulating enzyme concentration or activity

description: Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation.


name: Abnormal cellular immune system morphology

description: An abnormality of the morphology or counts of the cells that make up the immune system.


hypogonadotropic hypogonadism

description: Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis.


brain aneurysm

description: A congenital or acquired aneurysm within the cranium.


Abnormal bone structure

description: Any anomaly in the composite material or the layered arrangement of the bony skeleton.


Dyssynergia

description: A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts.


adrenal gland disorder

description: A disease involving the adrenal gland.


name: Abnormal fetal cardiovascular physiology

description: Abnormal functionality of the fetal cardiovascular system.


bone Paget disease

description: A disease of bone that initially results in the excessive resorption of bone (by osteoclasts) followed by the replacement of normal bone marrow with vascular and fibrous tissue.


Abnormality of the biliary system

description: An abnormality of the biliary system.


Abnormality of the immune system

description: An abnormality of the immune system.


Neoplasm of the anterior pituitary

description: A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.


name: Increased urinary non-proteinogenic amino acid level

description: An increased level in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.


Impaired glucose tolerance

description: An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose.


acidosis disorder

description: An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic.


cutis laxa

description: Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity.


name: Abnormal circulating sarcosine concentration

description: An deviation from the normal concentration of sarcosine in the blood circulation.


proximal renal tubular acidosis

description: Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis.


Abnormal cell morphology

description: Any anomaly of cell structure.


trimethylaminuria

description: A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals.


male reproductive system neoplasm

description: A benign, borderline, or malignant neoplasm that affects the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign testicular Sertoli cell tumor, prostatic intraepithelial neoplasia, prostate carcinoma, testicular seminoma, and testicular embryonal carcinoma.


Abnormality of the genital system

description: An abnormality of the genital system.


name: Abnormal circulating glutamine family amino acid concentration

description: Any deviation from the normal concentration of a glutamine family amino acid in the blood circulation.


pituitary gland disorder

description: A disease involving the pituitary gland.


cardiovascular disorder

description: A disease involving the cardiovascular system.


Abnormality of the genitourinary system

description: The presence of any abnormality of the genitourinary system.


Hyperphosphaturia

description: An increased excretion of phosphates in the urine.


name: Abnormal enzyme concentration or activity

description: Concentration or activity of an enzyme is above or below the limits of normal.


name: Abnormal urinary non-proteinogenic amino acid level

description: Any deviation from the normal amount in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.


name: Abnormal circulating carbohydrate concentration

description: A deviation from the normal concentration of a carbohydrate in the blood circulation.


name: Abnormal circulating nitrogen compound concentration

description: Any deviation from the normal concentration of a nitrogen compound in the blood circulation.


periodontitis

description: An acute or chronic inflammatory process that affects the tissues that surround and support the teeth.


name: Abnormal extrahepatic bile duct morphology


middle cerebral artery infarction

description: Necrosis occurring in the middle cerebral artery distribution system which brings blood to the entire lateral aspects of each cerebral hemisphere. Clinical signs include impaired cognition; aphasia; agraphia; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction.


APUdoma

description: An endocrine tumor arising from an APUD cell.


lipodystrophy

description: A congenital or acquired disorder characterized by abnormal loss or redistribution of the adipose tissue in the body.


name: Abnormal circulating monocarboxylic acid concentration

description: Any deviation from the normal concentration of a monocarboxylic acid in the blood circulation.


Abnormality of mental function

description: Cognitive, psychiatric, or memory anomaly.


Microprolactinoma

description: A pituitary prolactin cell adenoma of less than 10 mm diameter.


muscle tissue disorder

description: A disease involving the muscle tissue.


Abnormal inflammatory response

description: Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.


name: hematopoietic and lymphoid system neoplasm

description: Neoplasms of the hematopoietic system, including hematopoietic cell neoplasms (e.g. leukemias, lymphomas) and non-hematopoietic cell neoplasms that can affect the hematopoietic system (e.g. lymph node and splenic sarcomas). --2003


ovarian gonadoblastoma

description: A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites.


Digestive system neoplasm

description: A tumor (abnormal growth of tissue) of the digestive system.


Decreased body mass index

description: Abnormally decreased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages.


maligant granulosa cell tumor of ovary

description: An aggressive granulosa cell tumor that arises from the ovary and metastasizes to other anatomic sites.


muscular dystrophy

description: Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities.


osteochondrodysplasia

description: A term referring to disorders characterized by abnormalities in the development of bones and cartilage.


name: Increased sulfur amino acid level in urine

description: An elevated level of a sulfur-containing amino acid in the urine.


Abnormal thyroid morphology

description: A structural abnormality of the thyroid gland.


calcinosis

description: Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer.


endocrine system disorder

description: A disease involving the endocrine system.


name: Increased urine proteinogenic amino acid derivative level

description: An elevated urine level of a compound that is derived from an amino acid.


renal tubular acidosis

description: A group of genetic disorders of the kidney tubules characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. Defective renal acidification of urine (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as hypokalemia, hypercalcinuria with nephrolithiasis and nephrocalcinosis, and rickets.


hyperaldosteronism

description: Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia.


name: Abnormal circulating non-proteinogenic amino acid concentration

description: Any deviation from the normal concentration in the blood circulation of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.


severe combined immunodeficiency

description: Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells.


leukodystrophy

description: Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems.


name: Abnormal circulating ornithine concentration

description: Deviation from the normal concentration of ornithine in the blood circulation.


inborn mitochondrial myopathy

description: Myopathy caused by mitochondrial abnormalities.


central nervous system malformation

description: An abnormality of the nervous system.


congenital generalized lipodystrophy

description: An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues.


name: central nervous system infectious disorder

description: An infectious process that affects the brain and/or spinal cord. Representative examples include encephalitis, poliomyelitis, arachnoiditis, and meningitis.


palsy

description: A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)


Abnormal uterine cervix morphology

description: An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix.


peripheral neuropathy

description: A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs.


2-hydroxyglutarate aciduria

description: The concentration of 2-hydroxyglutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal.


Aplasia/Hypoplasia of the thyroid gland

description: Absence or underdevelopment of the thyroid gland.


name: inherited glutathione synthetase deficiency

description: Glutathione synthetase deficiency is characterized by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.


brain cancer

description: A primary or metastatic malignant neoplasm affecting the brain.


bone neoplasm

description: A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage.


xanthinuria

description: A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine.


Abnormal CNS myelination

description: An abnormality of myelination of nerves in the central nervous system.


Abnormal nervous system morphology

description: A structural anomaly of the nervous system.


name: Abnormal circulating amino acid concentration

description: The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation.


name: Abnormal morphology of female internal genitalia

description: An abnormality of the female internal genitalia.


Elevated urinary carboxylic acid

description: An increased amount of carboxylic acid in the urine.


ovarian cyst

description: A cyst that arises from the ovary. Representative examples include simple, complex, corpus luteum, and endometrioid cysts. Symptoms include pelvic and abdominal pain and irregular periods.


peripheral nervous system neoplasm

description: A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths.


Pontine ischemic lacunes

description: Lacunes are infarcts less than 15 mm in diameter in the cortical white matter or in the corona radiata, internal capsule, centrum semiovale, thalamus, basal ganglia, or pons.


parkinsonian disorder

description: A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA.


Alzheimer disease

description: A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.


neurodegenerative disease

description: A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function.


hyperprolinemia

description: Hyperprolinemia is when there isan excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms:hyperprolinemia type1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Less commonly, affected individuals can experience seizures, intellectual disability, or other neurological or psychiatric problems. Hyperprolinemia is caused by mutations in the PRODH gene and is inherited in an autosomal recessive pattern.


Weight loss

description: Reduction of total body weight.


ectodermal dysplasia syndrome

description: The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures.


movement disorder

description: Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement.


name: Abnormality of lipoprotein cholesterol concentration

description: An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood.


Kaposi's sarcoma

description: A malignant neoplasm characterized by a vascular proliferation which usually contains blunt endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The most frequent site of involvement is the skin; however it may also occur internally. It generally develops in people with compromised immune systems including those with acquired immune deficiency syndrome (AIDS).


amyotrophic lateral sclerosis

description: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.


Slender build

description: Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones.


Abnormal central motor function

description: An anomaly of the control or production of movement in the central nervous system.


Abnormality of skin physiology

description: Any abnormality of the physiological function of the skin.


adrenogenital syndrome

description: Abnormal sex differentiation or congenital disorders of sex development caused by abnormal levels of steroid hormones expressed by the gonads or the adrenal glands, such as in congenital adrenal hyperplasia and adrenal cortex neoplasms. Due to abnormal steroid biosynthesis, clinical features include virilism in females; feminization in males; or precocious sexual development in children.


dystonic disorder

description: A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures.


depressive disorder

description: A melancholy feeling of sadness and despair.


name: Abnormal male internal genitalia morphology

description: An abnormality of the male internal genitalia.


Abnormal cellular phenotype

description: An anomaly of cellular morphology or physiology.


bipolar disorder

description: A disorder of the brain that causes unusual shifts in mood, energy, activity levels and the ability to carry out day-to-day tasks. Often these moods range and shift from periods of elation and energized behavior to those of hopelessness and depression.


melanocytic nevus

description: A neoplasm composed of melanocytes that usually appears as a dark spot on the skin.


craniosynostosis

description: Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome.


Abnormal bone ossification

description: Any anomaly 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.


Abnormality of vitamin metabolism

description: An anomaly in the metabolism of a vitamin.


leukopenia

description: A laboratory test result indicating a decreased number of white blood cells in the peripheral blood.


cranial nerve palsy

description: Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness.


Impairment of fructose metabolism

description: An impairment of a fructose metabolic process.


Abnormal uterus morphology

description: Any anomaly of the structure of the uterus


vascular disorder

description: A general term used to describe any disease affecting blood vessels]. It includes vascular abnormalities caused by degenerative, metabolic and inflammatory conditions, embolic diseases, coagulative disorders, and functional disorders such as posteri or reversible encephalopathy syndrome.


hemiplegia

description: Severe or complete loss of motor function on one side of the body. This condition is usually caused by brain diseases that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, brain stem lesions; cervical spinal cord diseases; peripheral nervous system diseases; and other conditions may manifest as hemiplegia. The term hemiparesis (see paresis) refers to mild to moderate weakness involving one side of the body.


name: mitochondrial trifunctional protein deficiency

description: Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..


Abnormal urine metabolite level

description: Any deviation from the normal amount of a metabolite in urine.


classic phenylketonuria

description: Classical phenylketonuria is a severe form of phenylketonuria (PKU) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.


name: Abnormal circulating proteinogenic amino acid derivative concentration

description: Any deviation from the normal concentration in the blood circulation of a compound that is derived from an amino acid.


Ischemic stroke

description: Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured.


name: Abnormal circulating aromatic amino acid concentration

description: Any deviation from the normal concentration of a aromatic amino acid in the blood circulation.


name: Abnormal circulating pyruvate family amino acid concentration

description: An abnormality of a pyruvate family amino acid metabolic process.


name: Abnormal circulating organic amino compound concentration

description: Any deviation from the normal concentration of an organic amino compound, defined as a compound formally derived from ammonia by replacing one, two or three hydrogen atoms by organyl groups.


respiratory tract neoplasm

description: A benign or malignant, primary or metastatic neoplasm involving the respiratory tract.


head and neck neoplasm

description: A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma.


hyperlipoproteinemia

description: An elevated concentration of lipoproteins.


name: Abnormality of the musculoskeletal system

description: An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body.


name: Abnormal circulating proteinogenic amino acid concentration

description: An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine.


Abnormality of the integument

description: An abnormality of the integument, which consists of the skin and the superficial fascia.


Abnormality of urine homeostasis

description: An abnormality of the composition of urine or the levels of its components.


cerebellar ataxia

description: A neurological syndrome characterized by clumsy and uncoordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways.


name: Abnormality of the peripheral nervous system

description: Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord.


uterine anomalies

description: An abnormality of the uterus.


Cervical neoplasm

description: A tumor (abnormal growth of tissue) of the uterine cervix.


Anterior hypopituitarism

description: A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.


homocystinuria

description: An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems.


ichthyosis

description: Disorders of cornification that are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, affect most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Acquired forms of ichthyosis can be observed with certain autoimmune, inflammatory, metabolic, endocrine, or infectious diseases or with malignancies.


renal tubule disorder

description: A disease that involves the renal tubule.


Late onset atopic dermatitis

description: A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis.


digestive system neoplasm

description: A neoplasm (disease) that involves the digestive system.


frontotemporal dementia

description: Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy.


Abnormal cerebral morphology

description: Any structural abnormality of the telencephalon, which is also known as the cerebrum.


Abnormal psychotic pattern

description: Any abnormal pattern of psychotic experiences, where an individual has significant disturbances in their thoughts, perceptions, emotions, and behavior, resulting in a loss of touch with reality.


lissencephaly spectrum disorders

description: The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterized by simplification or absence of folding) associated with abnormal organization of the cortical layers as a result of neuronal migration defects during embryogenesis.


name: Failure to thrive secondary to recurrent infections

description: Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections.


tumor of uterus

description: A neoplasm (disease) that involves the uterus.


name: Abnormal circulating metabolite concentration

description: An abnormal level of an analyte measured in the blood.


thyroid gland disorder

description: A disease involving the thyroid gland.


Abnormal nervous system physiology

description: A functional anomaly of the nervous system.


primary ovarian failure

description: Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries.


hyperekplexia

description: A neurologic disorder classically characterized by pronounced startle responses to tactile or acoustic stimuli and hypertonia


Abnormal experience of reality

description: Subjective phenomena or perceptions that deviate from what is considered correct or are outside the range of normal human experiences.


name: Insulin-dependent but ketosis-resistant diabetes

description: Ketosis-resistant diabetes is a synonym for type II diabetes. This term thus refers to a form of type II diabetes in which patients are dependent on insulin.


osteochondrosis

description: A condition that is characterized by defective bone growth that affects the growth centers of bone.


name: Abnormal circulating proline concentration

description: Any deviation from the normal concentration of proline or a proline metabolite in the blood circulation.


Abnormal pituitary gland morphology

description: An anomaly of the pituitary gland.


allergic disease

description: An immune response that occurs following re-exposure to an innocuous antigen, and that requires the presence of existing antibodies against that antigen. This response involves the binding of IgE to mast cells, and may worsen with repeated exposures.


name: lysosomal storage disease with skeletal involvement


Abnormal brain morphology

description: A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.


urticaria

description: A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress.


name: Abnormal circulating alanine concentration

description: An abnormality of an alanine metabolic process.


Abnormal skin morphology

description: Any morphological abnormality of the skin.


renal aminoaciduria

description: A group of inherited kidney disorders characterized by the abnormally elevated levels of amino acids in urine. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the proximal renal tubules. Renal aminoaciduria are classified by the specific amino acid or acids involved.


Decreased circulating cortisol level

description: Abnormally reduced concentration of cortisol in the blood.


ovarian neoplasm

description: A benign, borderline, or malignant neoplasm involving the ovary.


Dicarboxylic aciduria

description: An increased concentration of dicarboxylic acid in the urine.


Aciduria

description: Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration.


disorder of methionine catabolism

description: An inherited metabolic disease that is has its basis in the disruption of methionine catabolic process.


cardiomyopathy

description: A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive.


ovarian disorder

description: A disease involving the ovary.


hyperbilirubinemia

description: A disease characterized by elevated level of the pigment bilirubin in the blood.


skeletal muscle disorder

description: A disease involving the skeletal muscle tissue.


autism spectrum disorder

description: A spectrum of developmental disorders that includes autism, and Asperger syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors.


metabolic bone disorder

description: A group of disorders that affect the bones secondary to increased levels of minerals or deficient levels of minerals such as calcium, magnesium, phosphorus, and vitamin D. Representative examples are osteomalacia, osteoporosis, and Paget disease.


Abnormal joint morphology

description: An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.


Abnormal leukocyte morphology

description: An abnormality of leukocytes.


distal renal tubular acidosis

description: Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia.


immunodeficiency disease

description: Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.


nervous system cancer

description: A primary or metastatic malignant neoplasm involving the nervous system.


name: Abnormal circulating branched chain amino acid concentration

description: Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation.


name: Abnormal circulating lysine concentration

description: Any deviation from the normal concentration of lysine in the blood circulation.


skin disorder

description: Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs.


pseudohypoaldosteronism

description: An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis, urinary salt wasting, normal or increased aldosterone secretion and normal glomerular filtration rate.


prostate neoplasm

description: A neoplasm (disease) that involves the prostate gland.


malignant endocrine neoplasm

description: A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma.


Abnormal digestive system morphology

description: A structural anomaly of the digestive system.


Abnormal CSF metabolite concentration

description: Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid.


narcolepsy

description: A sleep disorder characterized by a tendency for excessive sleepiness during the day which occurs even after adequate sleep in the nighttime. The persons who suffer from this condition experience fatigue and may fall asleep at inappropriate times during the day.


name: Abnormality of prenatal development or birth

description: An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities.


Abnormal urine carboxylic acid level

description: Any deviation from the normal concentration of a carboxylic acid in the urine.


hypolipoproteinemia

description: Conditions with abnormally low levels of lipoproteins in the blood. This may involve any of the lipoprotein subclasses, including alpha-lipoproteins (high-density lipoproteins); beta-lipoproteins (low-density lipoproteins); and prebeta-lipoproteins (very-low-density lipoproteins).


Cachexia

description: Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.


dementia

description: Loss of intellectual abilities interfering with an individual's social and occupational functions. Causes include Alzheimer's disease, brain injuries, brain tumors, and vascular disorders.


Osteoporotic tarsals

description: Reduction in bone mineral density affecting any or all of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.


primary aldosteronism

description: An endocrine disorder characterized by excessive production of aldosterone by the adrenal glands. Causes include adrenal gland adenoma and adrenal gland hyperplasia. The overproduction of aldosterone results in sodium and water retention and hypokalemia. Patients present with high blood pressure, muscle weakness, and headache.


hyperlipidemia

description: Elevated levels of lipids in the blood.


galactosemia

description: Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form.


generalized lipodystrophy

description: Almost complete absence of subcutaneous and/or visceral adipose tissue.


epilepsy

description: A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.


Azotemia

description: An increased concentration of nitrogen compounds in the blood.


Abnormality of the abdominal organs

description: An abnormality of the viscera of the abdomen.


xanthomatosis

description: A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the skin; tendons; joints of knees and elbows. Xanthomatosis is associated with disturbance of lipid metabolism and formation of foam cells.


combined immunodeficiency

description: A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern.


Eunuchoid habitus

description: A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more).


infertility disorder

description: Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues.


congenital adrenal hyperplasia

description: Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations, depending of the type and the severity of the disease.


name: Abnormal circulating lipid concentration

description: Any deviation from the normal concentration of a lipid in the blood circulation.


hematologic disorder

description: A disease involving the hematopoietic system.


hypogonadism

description: A disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation.


Abnormal leukocyte count

description: Number of leukocytes per volume of blood beyond normal limits.


cancer

description: A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas.


Abnormal skeletal morphology

description: An abnormality of the form, structure, or size of the skeletal system.


arthritic joint disease

description: An inflammatory process affecting a joint. Causes include infection, autoimmune processes, degenerative processes, and trauma. Signs and symptoms may include swelling around the affected joint and pain.


Neoplasm of the genitourinary tract

description: A tumor (abnormal growth of tissue) of the genitourinary system.


Abnormality of the male genitalia

description: Abnormality of the male genital system.


Abnormal LDL cholesterol concentration

description: Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation.


Osteoporosis of vertebrae

description: Osteoporosis affecting predominantly the vertebrae.


lymphoproliferative syndrome

description: A disorder characterized by proliferation of lymphocytes at various stages of differentiation. Lymphoproliferative disorders can be neoplastic (clonal, as in lymphomas and leukemias) or reactive (polyclonal, as in infectious mononucleosis).


osteonecrosis

description: A none disease characterized by death of bone tissue due to a lack of blood supply.


adrenocortical insufficiency

description: An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency).


glutaric aciduria

description: The concentration of glutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal.


progressive bulbar palsy

description: Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability). Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS). Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms.


Abnormal urine pH

description: A deviation of urine pH from the normal range of 4.5 to 7.8.


juvenile idiopathic arthritis

description: Juvenile idiopathic arthritis (JIA) is the term used to describe a group of inflammatory articular disorders of unknown cause that begin before the age of 16 and last over 6 weeks. The term juvenile idiopathic arthritis was chosen to signify the absence of any known mechanism underlying the disorder and to highlight the necessity of excluding other types of arthritis occurring in well defined diseases (in particular arthritis occurring in association with infectious, inflammatory and haematooncologic diseases).


cerebellar degeneration

description: Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders.


46,XY disorder of sex development

description: Differences of sex development in individuals with 46,XY karyotype.


methylmalonic acidemia

description: A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease.


neuroendocrine neoplasm

description: Endocrine tumors, also referred to as neuroendocrine tumors (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumors may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumors or for a clinical syndrome caused by abnormal hormone secretion).


pituitary tumor

description: A benign or malignant neoplasm affecting the pituitary gland. The vast majority are adenomas arising from the anterior lobe of the pituitary gland.


Glycopeptiduria

description: Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues.


glycine encephalopathy

description: Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity.


Macroprolactinoma

description: A pituitary prolactin cell adenoma of more than 10 mm diameter.


Abnormality of folate metabolism

description: An abnormality of the metabolism of folic acid, which is also known as vitamin B9.


Abnormal internal genitalia

description: An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male).


Small for gestational age

description: Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.


lymphoma

description: A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas.


name: Abnormal cardiovascular system physiology

description: Abnormal functionality of the cardiovascular system.


Abnormality of bone mineral density

description: This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ.


neoplasm

description: A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias.


primary hyperoxaluria

description: A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria.


skin vascular disease

description: A disease that involves the superficial vasculature.


prostate cancer

description: A primary or metastatic malignant tumor involving the prostate gland. The vast majority are carcinomas.


intellectual disability

description: A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group.


name: hyperphenylalaninemia due to tetrahydrobiopterin deficiency

description: Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine.


basal ganglia disorder

description: A disease involving the basal ganglia.


lactic acidosis

description: Metabolic acidosis characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia.


Localized skin lesion

description: A lesion of the skin that is located in a specific region rather than being generalized.


Abnormal circulating glycerol level

description: Any deviation from the normal concentration of glycerol in the blood.


psychotic disorder

description: An abnormal condition of the mind that involves a loss of contact with reality. People experiencing psychosis may exhibit personality changes and thought disorder. Depending on its severity, this may be accompanied by unusual or bizarre behavior, as well as difficulty with social interaction and impairment in carrying out daily life activities.


B-cell neoplasm

description: A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes.


name: histidinuria due to a renal tubular defect

description: An increased concentration of histidine in the urine.


Abnormal neuron morphology

description: A structural anomaly of a neuron. Neurons are electrically excitable cells that transmit signals throughout the body. Neurons employ both electrical and chemical components in the transmission of information. Neurons are connected to other neurons at synapses and connected to effector organs or cells at neuroeffector junctions.


Abnormal reproductive system morphology

description: A structural or developmental anomaly of any of the tissues involved in the genital system.


Abnormality of the skeletal system

description: An abnormality of the skeletal system.


hypertensive disorder

description: Persistently high systemic arterial blood pressure. Based on multiple readings (blood pressure determination), hypertension is currently defined as when systolic pressure is consistently greater than 140 mm Hg or when diastolic pressure is consistently 90 mm Hg or more.


name: Abnormal circulating organic compound concentration

description: Any deviation of the concentration of an orrganic compound from the normal range. An organic compound is defined as any compound that contains a carbon atom.


Acidemia

description: An abnormally low blood pH (usually defined as less than 7.35).


Abnormal forebrain morphology

description: An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle.


Abnormality of the urinary system

description: An abnormality of the urinary system.


Abnormal cerebrospinal fluid morphology

description: An abnormality of the cerebrospinal fluid (CSF).


Failure to thrive

description: Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.


Abnormal biliary tract morphology

description: A structural abnormality of the biliary tree.


name: Abnormal circulating valine concentration

description: Any deviation from the normal circulation of valine in the blood circulation.


Phenotypic abnormality

description: A phenotypic abnormality.


hypoaldosteronism disease

description: Abnormally low levels of aldosterone in the blood.


name: Abnormality of reproductive system physiology

description: An abnormal functionality of the genital system.


female reproductive system neoplasm

description: A benign, precancerous, or malignant neoplasm that affects the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, ovarian carcinoma, cervical carcinoma, and endometrial carcinoma.


Severe generalized osteoporosis

description: Severe degree of osteoporosis.


Abnormal myelination

description: Any anomaly in the process by which myelin sheaths are formed and maintained around neurons.


hypopituitarism

description: A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions.


arthropathy

description: Any disorder of the joints.


name: Abnormal circulating aspartate family amino acid concentration

description: Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation.


name: Abnormal circulating carboxylic acid concentration

description: Any deviation from the normal concentration of a carboxylic acid in the blood circulation.


Abnormal homeostasis

description: An anomaly in the processes involved in the maintenance of an internal equilibrium.


name: Abnormality of the urinary system physiology


name: Abnormal circulating histidine concentration

description: An abnormality of a histidine metabolic process.


intracranial hypertension

description: A finding characterized by increased cerebrospinal fluid pressure within the skull.


Abnormal fetal physiology

description: Any functional anomaly of the fetus.


hyperostosis

description: Excessive thickening of bone.


obesity disorder

description: A disorder involving an excessive amount of body fat.


Abnormal endocrine morphology

description: Any anomaly of the structure of an organ ofthe endocrine system.


Osteoporotic metatarsal

description: Decrease in mass and density of the metatarsal bones.


Abnormal metabolism

description: An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products.


disorder of sexual differentiation

description: A congenital disorder characterized by abnormalities in the development of the sexual characteristics.


name: telangiectasia macularis eruptiva perstans


Increased inflammatory response

description: A abnormal increase in the inflammatory response to injury or infection.


name: Abnormal circulating protein concentration

description: An abnormal level of a circulating protein in the blood.


female infertility

description: Diminished or absent ability of a female to achieve conception.


name: Abnormality of the hypothalamus-pituitary axis

description: Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit.


3-methylglutaconic aciduria

description: A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine.


nutritional disorder

description: Any condition related to a disturbance between proper intake and utilization of nourishment.


vitamin B12 deficiency

description: A disease characterized by low serum levels of vitamin B12, either inherited or acquired.


skin neoplasm

description: A benign or malignant tumor involving the skin. Representative examples of benign skin neoplasms include the benign melanocytic skin nevus, acanthoma, sebaceous adenoma, sweat gland adenoma, lipoma, hemangioma, fibroma, and benign fibrous histiocytoma. Representative examples of malignant skin neoplasms include basal cell carcinoma, squamous cell carcinoma, melanoma, and Kaposi sarcoma.


paraplegia

description: Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord.


brain disorder

description: A disease affecting the brain or part of the brain.


D-2-hydroxyglutaric aciduria

description: D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.


autoimmune disease

description: A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis).


familial hypercholesterolemia

description: An inheritable form of hyperlipidemia, in which there are excess lipids in the blood.


Abnormality of body weight

description: An abnormal increase or decrease of weight or an abnormal distribution of mass in the body.


Abnormal prostate morphology

description: An abnormality of the prostate.


central nervous system disorder

description: A disease involving the central nervous system.


name: Abnormal circulating serine family amino acid concentration

description: Any deviation from the normal concentration of a serine family amino acid in the blood circulation.


Abnormality of the diencephalon

description: An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain.


Reduced bone mineral density

description: A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.


motor neuron disorder

description: A disease involving the motor neuron.


peripheral nervous system disorder

description: A disease involving the peripheral nervous system.


Abnormality of acid-base homeostasis

description: An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH.


dilated cardiomyopathy

description: Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure.


Abnormal glucose homeostasis

description: Abnormality of glucose homeostasis.


hypertrophic cardiomyopathy

description: A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.


Abnormality of the female genitalia

description: Abnormality of the female genital system.


chondrodysplasia punctata

description: A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis.


name: Increased proteinogenic amino acid level in urine

description: An elevated level of a proteinogenic amino acid in the urine. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine.


Abnormality of adrenal physiology

description: A functional abnormality of the adrenal glands.


Atypical behavior

description: Atypical behavior is an abnormality in a person's actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.


name: eukaryotic initiation factor 4A-III methylated 1 (human)

description: A eukaryotic initiation factor 4A-III (human) that has been methylated on the residue at the position equivalent to Cys-284 of the amino acid sequence represented by UniProtKB:P38919. UniProtKB:P38919, Cys-284, MOD:00660.


name: guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 methylated 5 (human)

description: A guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 (human) that has been methylated on the residue at the position equivalent to Cys-271 of the amino acid sequence represented by UniProtKB:P62873-1. Example: UniProtKB:P62873-1, Cys-271, MOD:00660.


name: FAD-linked sulfhydryl oxidase ALR isoform h2 (human)

description: An FAD-linked sulfhydryl oxidase ALR (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P55789-2.


name: Rho guanine nucleotide exchange factor 26 isoform h3 (human)

description: A Rho guanine nucleotide exchange factor 26 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96DR7-4.


name: Rho guanine nucleotide exchange factor 26 isoform h1 (human)

description: A Rho guanine nucleotide exchange factor 26 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96DR7-1.


name: Rho guanine nucleotide exchange factor 26 isoform h2 (human)

description: A Rho guanine nucleotide exchange factor 26 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96DR7-3.


diacylglycerol lipase-alpha

A protein that is a translation product of the human DAGLA gene or a 1:1 ortholog thereof.


name: dolichol-phosphate mannosyltransferase subunit 3 cysteinylated 1 (human)

description: A dolichol-phosphate mannosyltransferase subunit 3 (human) that has been cysteinylated on the residue at the position equivalent to Cys-67 of the amino acid sequence represented by UniProtKB:Q9P2X0-1. Example: UniProtKB:Q9P2X0-1, Cys-67, MOD:00765.


name: dolichol-phosphate mannosyltransferase subunit 3

description: A protein that is a translation product of the human DPM3 gene or a 1:1 ortholog thereof.


name: dolichol-phosphate mannosyltransferase subunit 3 isoform h2 (human)

description: A dolichol-phosphate mannosyltransferase subunit 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9P2X0-2.


name: dolichol-phosphate mannosyltransferase subunit 3 isoform h1 (human)

description: A dolichol-phosphate mannosyltransferase subunit 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9P2X0-1.


name: dolichol-phosphate mannosyltransferase subunit 3 methylated 1 (human)

description: A dolichol-phosphate mannosyltransferase subunit 3 (human) that has been methylated on the residue at the position equivalent to Cys-67 of the amino acid sequence represented by UniProtKB:Q9P2X0-1. Example: UniProtKB:Q9P2X0-1, Cys-67, MOD:00660.


name: dolichol-phosphate mannosyltransferase subunit 3 sequence variant L85S (human)

description: A dolichol-phosphate mannosyltransferase subunit 3 (human) that has a Ser residue at the position equivalent to Leu-85 of the amino acid sequence represented by UniProtKB:Q9P2X0-1. Example: UniProtKB:Q9P2X0-1, Leu-85, CHEBI:29999.


name: O-phosphoseryl-tRNA(Sec) selenium transferase isoform h2 (human)

description: An O-phosphoseryl-tRNA(Sec) selenium transferase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9HD40-2.


carboxylesterase 5A isoform h4 (human)

A carboxylesterase 5A (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6NT32-4.


ketotriose derivative

A triose derivative that is formally obtained from ketotriose.


1-alkylglycerone 3-phosphate

A glycerone 3-phosphate having an unspecified O-alkyl substituent at the 1-position.


1-acylglycerone 3-phosphate

A glycerone 3-phosphate having an unspecified O-acyl substituent at the 1-position.


name: N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2 deaminated 1 (human)

description: An N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2 (human) that has been deaminated on the residue at the position equivalent to Asn-219 of the amino acid sequence represented by UniProtKB:Q9NY97-1. Example: UniProtKB:Q9NY97-1, Asn-219, MOD:00684.


name: argininosuccinate lyase, initiator methionine removed form (human)

description: An argininosuccinate lyase (human) that has had the initiator methionine removed. UniProtKB:P30566, 2-484.


name: cystathionine gamma-lyase cysteinylated 1 (human)

description: A cystathionine gamma-lyase (human) that has been cysteinylated on the residue at the position equivalent to Cys-109 of the amino acid sequence represented by UniProtKB:P32929-1. Example: UniProtKB:P32929-1, Cys-109, MOD:00765.


name: mitochondrial amidoxime-reducing component 1, initiator methionine removed form (human)

description: A mitochondrial amidoxime-reducing component 1 (human) that has had the initiator methionine removed. Example: UniProtKB:Q5VT66-1, 2-337.


name: 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial, transit peptide removed form (human)

description: A 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial (human) that has had the transit peptide removed. UniProtKB:P21953, 51-392.


metabotropic glutamate receptor 4

A metabotropic glutamate receptor protein that is a translation product of the human GRM4 gene or a 1:1 ortholog thereof.


name: metabotropic glutamate receptor 4 isoform h4 (human)

description: A metabotropic glutamate receptor 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q14833-4.


name: metabotropic glutamate receptor 4 isoform h1 (human)

description: A metabotropic glutamate receptor 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q14833-1.


name: metabotropic glutamate receptor 4 isoform h2 (human)

description: A metabotropic glutamate receptor 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q14833-2.


name: metabotropic glutamate receptor 4 isoform h3 (human)

description: A metabotropic glutamate receptor 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q14833-3.


name: metabotropic glutamate receptor 4, signal peptide removed form (human)

description: A metabotropic glutamate receptor 4 (human) that has had the signal peptide removed. UniProtKB:Q14833, 33-912.


name: metabotropic glutamate receptor 4 isoform h5 (human)

description: A metabotropic glutamate receptor 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q14833-5.


proton channel OTOP1

A protein that is a translation product of the human OTOP1 gene or a 1:1 ortholog thereof.


name: proton channel OTOP1 phosphorylated 1 (human)

description: A proton channel OTOP1 (human) that has been phosphorylated on the residue at the position equivalent to Ser-382 of the amino acid sequence represented by UniProtKB:Q7RTM1. UniProtKB:Q7RTM1, Ser-382, MOD:00046.


name: inositol-3-phosphate synthase 1 methylated 1 (human)

description: An inositol-3-phosphate synthase 1 (human) that has been methylated on the residue at the position equivalent to Cys-437 of the amino acid sequence represented by UniProtKB:Q9NPH2-1. Example: UniProtKB:Q9NPH2-1, Cys-437, MOD:00660.


name: collagen alpha-1(I) chain isoform 1 (human)

description: A collagen alpha-1(I) chain isoform 1 that is encoded in the genome of human.


Childhood Ovarian Mixed Germ Cell Tumor

description: A mixed germ cell tumor that arises from the ovary and occurs in children.