Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Substernal goiter (disorder) |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
goitre diffus toxique avec exophtalmie et avec crise aiguë thyrotoxique |
Associated morphology |
False |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Toxic uninodular goiter with thyrotoxic crisis |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pendred's syndrome |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Toxic uninodular goiter |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Lingual goitre |
Associated morphology |
False |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Intrathyroidal calcification AND goiter syndrome |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Sporadic goiter |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Dyshormonogenetic goitre AND iodide leak |
Associated morphology |
False |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pituitary gland enlarged |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Large prostate (finding) |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Prostate enlarged on PR |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Mega cisterna magna (finding) |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Large ovary (disorder) |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Fetal cardiomegaly |
Associated morphology |
False |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Broad attachment of labial frenum |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Enlargement of lacrimal gland |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Coxa magna |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital hepatomegaly |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital syphilitic hepatomegaly |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Macrogenia |
Associated morphology |
False |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
goitre euthyroïdien |
Associated morphology |
False |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autonomously functioning thyroid goitre |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Macrogenia |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Enlargement of root of tongue |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Woody tongue (disorder) |
Associated morphology |
False |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Hypothyroid goiter, acquired (disorder) |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Diffuse hyperplastic goiter (disorder) |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital syphilitic hepatomegaly |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Goitre due to thyroiditis |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Splenomegaly co-occurrent with human immunodeficiency virus infection |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Enlargement of liver co-occurrent with human immunodeficiency virus infection |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Gingival pseudopocket (disorder) |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Abdominal organomegaly |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Gingival enlargement due to pseudopocket (disorder) |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Localised enlarged lymph nodes |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pseudohypertrophy |
Is a |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Enlargement of skeletal muscle (finding) |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cerebral ventriculomegaly (disorder) |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Multinodular goiter, cystic kidney, polydactyly syndrome |
Associated morphology |
False |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Graves' disease in remission |
Associated morphology |
False |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Diffuse thyroid goiter without thyrotoxicosis (disorder) |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Splenomegaly co-occurrent and due to storage disease |
Associated morphology |
False |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Optic nerve edema, splenomegaly syndrome |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital spade-like hand |
Associated morphology |
False |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Schistosomal hepatomegaly |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pectus excavatum, macrocephaly, dysplastic nails syndrome |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hepatic schistosomal granuloma |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Symmer's pipe-stem fibrosis (disorder) |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Enlarged nails (finding) |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Enlargement of labia (disorder) |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Repair of macrodactyly |
Direct morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Tsuge operation on finger for macrodactyly repair |
Direct morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Reduction of macrodactyly of hand (procedure) |
Direct morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Repair of macrodactyly of finger |
Direct morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital enlargement of nasopharynx |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hemimegalencephaly (disorder) |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993. |
Associated morphology |
False |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Macrophthalmos |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital macrognathism |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Megaloappendix (disorder) |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital enlarged kidney |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder) |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Macrocephaly and developmental delay syndrome (disorder) |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Frank-Ter Haar syndrome |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Bannayan syndrome |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Head circumference is less than two standard deviations above the mean, but appears disproportionately large when other factors such as stature are considered. |
Associated morphology |
False |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Overgrowth, macrocephaly, facial dysmorphism syndrome |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital megalogastria |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare multiple congenital anomalies/dysmorphic syndrome characterised by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989. |
Associated morphology |
False |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Megalencephalic leucoencephalopathy with subcortical cysts |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Macrogyria |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Craniolenticulosutural dysplasia (disorder) |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Megalocornea with intellectual disability syndrome |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Fetal macrocephaly (disorder) |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Macrotia |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital splenomegaly (disorder) |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital tracheobronchomegaly |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital tracheobronchomegaly |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Macroencephaly (disorder) |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Oculootodental syndrome |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Megalocornea, spherophakia, secondary glaucoma syndrome (disorder) |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
macrocéphalie |
Associated morphology |
False |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital syphilitic splenomegaly |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Reduction of gigantism of hand |
Direct morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive frontotemporal pachygyria (disorder) |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Beckwith-Wiedemann syndrome (disorder) |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Megalopapilla |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cleft palate, large ears, small head syndrome (disorder) |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Malan overgrowth syndrome |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital enlargement of fontanel |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Familial megalencephaly |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital cerebral ventriculomegaly |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital enlarged nails |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
X-linked intellectual disability Atkin type (disorder) |
Associated morphology |
True |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Megalencephaly-capillary malformation syndrome |
Associated morphology |
False |
Enlargement (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |