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Browse canonical concepts by label, domain, node type, prefix and encoded class.
Current membership scope: Any direct membership
| Concept | Node type | Base domain | Matched membership | Identifier |
|---|---|---|---|---|
| Hypertelorism Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid. | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050018 |
| Hyperthyroxinemia, Familial Dysalbuminemic An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum THYROXINE; (T4) in euthyroid patients with abnormal … | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160066 |
| Hypoalphalipoproteinemias Conditions with abnormally low levels of ALPHA-LIPOPROTEINS (high-density lipoproteins) in the blood. Hypoalphalipoproteinemia can be associated with… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160117 |
| Hypobetalipoproteinemias Conditions with abnormally low levels of BETA-LIPOPROTEINS (low density lipoproteins or LDL) in the blood. It is defined as LDL values equal to or le… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160119 |
| Hypokalemic Periodic Paralysis An autosomal dominant familial disorder characterized by recurrent episodes of skeletal muscle weakness associated with falls in serum potassium leve… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050292 |
| Hypolipoproteinemias Conditions with abnormally low levels of LIPOPROTEINS in the blood. This may involve any of the lipoprotein subclasses, including ALPHA-LIPOPROTEINS … | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160116 |
| Hypophosphatasia A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and e… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160131 |
| Ichthyosiform Erythroderma, Congenital Designation for several severe forms of ichthyosis, present at birth, that are characterized by hyperkeratotic scaling. Infants may be born encased i… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160043 |
| Ichthyosis Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Mo… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160042 |
| Ichthyosis Bullosa of Siemens An autosomal dominant form of ichthyosis characterized by generalized reddening of the skin (ERYTHEMA) and widespread blistering. The disease shows s… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160046 |
| Ichthyosis Vulgaris Most common form of ICHTHYOSIS characterized by prominent scaling especially on the exterior surfaces of the extremities. It is inherited as an autos… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160047 |
| Ichthyosis, Lamellar A chronic, congenital ichthyosis inherited as an autosomal recessive trait. Infants are usually born encased in a collodion membrane which sheds with… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160045 |
| Ichthyosis, X-Linked Chronic form of ichthyosis that is inherited as a sex-linked recessive trait carried on the X-chromosome and transmitted to the male offspring. It is… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160048 |
| Imprinting Disorders Disorders caused by transcriptional silencing of one parental gene allele (imprinted gene). Imprinted genes show genetic expression from only one par… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160067 |
| Incontinentia Pigmenti A genodermatosis occurring mostly in females and characterized by skin changes in three phases - vesiculobullous, verrucous papillomatous, and macula… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160015 |
| Isochromosomes Metacentric chromosomes produced during MEIOSIS or MITOSIS when the CENTROMERE splits transversely instead of longitudinally. The chromosomes produce… | Pathologic Condition | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:230062 |
| Jaundice, Chronic Idiopathic A benign, autosomally recessive inherited hyperbilirubinemia characterized by the presence of a dark pigment in the centrilobular region of the liver… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160107 |
| Jaw Abnormalities Congenital absence of or defects in structures of the jaw. | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050173 |
| Kallmann Syndrome A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADO… | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:120073 |
| Kashin-Beck Disease Disabling osteochondrodysplasia with OSTEOSCLEROSIS, cone-shaped METAPHYSIS, and shortening of the DIAPHYSIS. It is endemic in parts of Siberia and n… | Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050052 |
| Kearns-Sayre Syndrome A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block… | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050257 |
| Keratoderma, Palmoplantar Group of mostly hereditary disorders characterized by thickening of the palms and soles as a result of excessive keratin formation leading to hypertr… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160148 |
| Keratoderma, Palmoplantar, Diffuse An autosomal dominant disorder characterized by a widely distributed, well-demarcated hyperkeratosis of the palms and soles. There is more than one g… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160149 |
| Keratoderma, Palmoplantar, Epidermolytic An autosomal dominant hereditary skin disease characterized by epidermolytic hyperkeratosis that is strictly confined to the palms and soles. It has … | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160150 |
| Klinefelter Syndrome A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of… | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:120081 |
| Klippel-Feil Syndrome A syndrome characterised by a low hairline and a shortened neck resulting from a reduced number of vertebrae or the fusion of multiple hemivertebrae … | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050022 |
| Laminopathies Congenital neuromuscular and muscular dystrophy diseases associated with mutations in the LAMIN TYPE A (Lamin A/C or LMNA gene). It includes CARDIOMY… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160068 |
| Langer-Giedion Syndrome Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. INTELLECTUAL DISABILITY and abn… | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050053 |
| Laron Syndrome An autosomal recessive disorder characterized by short stature, defective GROWTH HORMONE RECEPTOR, and failure to generate INSULIN-LIKE GROWTH FACTOR… | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050012 |
| Lecithin Cholesterol Acyltransferase Deficiency An autosomal recessive disorder of lipoprotein metabolism caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE gene. It is characterized by low… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160118 |