Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Cholesterol monooxygenase (side-chain cleaving) deficiency |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
1 |
A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males. |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
1 |
Islet cell hyperplasia |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
1 |
A form of congenital adrenal hyperplasia (CAH) characterized by simple virilizing or salt wasting forms that can manifest with abnormal genital development with variable levels of virilization in females and with adrenal insufficiency in both sexes, and that presents with dehydration and hypoglycemia (which can be lethal if left untreated) in the neonatal period, as well as hyperandrogenism. |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
1 |
Congenital hyperplasia of sebaceous glands of lip |
Associated morphology |
False |
Hyperplasia |
Inferred relationship |
Some |
2 |
Congenital hyperplasia of sebaceous glands of lip |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
1 |
Congenital hyperplasia of kidney |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
1 |
Congenital alveolar hyperplasia of mandible |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
1 |
Congenital alveolar hyperplasia of maxilla (disorder) |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
1 |
Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979. |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
1 |
Pseudohermaphrodite, female with adrenocortical disorder |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
1 |
Hyperinsulinism due to focal adenomatous hyperplasia (disorder) |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
1 |
A rare genetic disease with characteristics of symmetrical muscular hypertrophy, hepatomegaly, polyhydramnios, macrocephaly and mild delay in motor, speech and language development. |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
2 |
A rare form of congenital adrenal hyperplasia due to P450 oxidoreductase deficiency and characterized by glucocorticoid deficiency, virilization of external genitalia in females, and undervirilization in males. Findings range from severely affected infants with 46,XX and 46,XY disorders/differences of sex development (DSD) and cortisol deficiency to mildly affected women who appear to have polycystic ovary syndrome, or mildly affected men with gonadal insufficiency. |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
1 |
Steroid 21-monooxygenase deficiency, simple virilizing type |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
1 |
Congenital maxillary hyperplasia |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
1 |
Congenital hyperplasia of intrahepatic bile duct |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
1 |
Congenital hyperplasia of muscle |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
1 |
Virilisation-adrenogenital syndrome |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
1 |
Hyperplasia of lactiferous duct of left breast (disorder) |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
1 |
Hyperplasia of lactiferous duct of right breast |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
1 |
Post-atrophic hyperplasia (morphologic abnormality) |
Is a |
True |
Hyperplasia |
Inferred relationship |
Some |
|
Cheilitis glandularis, superficial suppurative type |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
3 |
A rare PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) related overgrowth syndrome disease with characteristics of segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones and progresses in a distal to proximal patten. Congenital overgrowth is typically associated. |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
2 |
Cheilitis glandularis, deep suppurative type |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
4 |
Cheilitis glandularis |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
3 |
Aggressive lymphadenopathic mastocytosis with eosinophilia (disorder) |
Associated morphology |
False |
Hyperplasia |
Inferred relationship |
Some |
3 |
Systemic mastocytosis with associated clonal hematological non-mast cell lineage disease (disorder) |
Associated morphology |
False |
Hyperplasia |
Inferred relationship |
Some |
4 |
Systemic mast cell disease (disorder) |
Associated morphology |
False |
Hyperplasia |
Inferred relationship |
Some |
1 |
Indolent systemic mastocytosis |
Associated morphology |
False |
Hyperplasia |
Inferred relationship |
Some |
4 |
A rare, aggressive form of advanced systemic mastocytosis (advSM) characterized by massive infiltration of mast cells (MC) in different tissues and presence of extracutaneous organ dysfunction, but without evidence of mast cell leukemia or another hematologic neoplasm. |
Associated morphology |
False |
Hyperplasia |
Inferred relationship |
Some |
2 |
Classic mast cell leukemia |
Associated morphology |
False |
Hyperplasia |
Inferred relationship |
Some |
3 |
Aleukemic mast cell leukemia |
Associated morphology |
False |
Hyperplasia |
Inferred relationship |
Some |
3 |
Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency non classic form |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
1 |
Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency classic form (disorder) |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
1 |
Precocious puberty with adrenal hyperplasia |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
2 |
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency non-classic form (disorder) |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
1 |
Aggressive lymphadenopathic mastocytosis with eosinophilia (disorder) |
Associated morphology |
False |
Hyperplasia |
Inferred relationship |
Some |
2 |
Systemic mastocytosis with associated clonal hematological non-mast cell lineage disease (disorder) |
Associated morphology |
False |
Hyperplasia |
Inferred relationship |
Some |
2 |
A rare, aggressive form of advanced systemic mastocytosis (advSM) characterized by massive infiltration of mast cells (MC) in different tissues and presence of extracutaneous organ dysfunction, but without evidence of mast cell leukemia or another hematologic neoplasm. |
Associated morphology |
False |
Hyperplasia |
Inferred relationship |
Some |
1 |
Aleukemic mast cell leukemia |
Associated morphology |
False |
Hyperplasia |
Inferred relationship |
Some |
2 |
Reactive mastocytosis |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
1 |
Primary congenital hyperplasia of bilateral lungs (disorder) |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
1 |
Primary congenital hyperplasia of bilateral lungs (disorder) |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
2 |
Hyperplasia of lactiferous duct of bilateral breasts (disorder) |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
1 |
Hyperplasia of lactiferous duct of bilateral breasts (disorder) |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
2 |
Primary congenital hyperplasia of lung (disorder) |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
1 |
Secondary congenital hyperplasia of lung |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
1 |
Hyperplasia of left condyloid process of mandible (disorder) |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
1 |
Hyperplasia of right condyloid process of mandible |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
1 |
Hyperplasia of right coronoid process of mandible (disorder) |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
1 |
Hyperplasia of left coronoid process of mandible (disorder) |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
1 |
Bilateral coronoid hyperplasia of mandible |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
2 |
Bilateral condylar hyperplasia of mandible |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
2 |
3 beta-Hydroxysteroid dehydrogenase deficiency |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
1 |
A rare syndromic deafness characterized by renal failure without hematuria, parathyroid hyperplasia and sensorineural deafness. There have been no further reports since 1989. |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
1 |
Hyperplasia of retromolar gingiva |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
1 |
Congenital interstitial cell of Cajal hyperplasia with neuronal intestinal dysplasia |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
2 |
Malocclusion due to gingival hyperplasia |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
2 |
A rare temporomandibular joint anomaly characterized by progressive, asymmetrical, non-neoplastic overgrowth of a mandibular condyle. It is unilateral in most cases and leads to progressive facial asymmetry, mandibular deviation, articular dysfunction, and dental malocclusion. |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
1 |
Male sexual precocity with adrenal hyperplasia (disorder) |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
3 |
Female adrenal virilization |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
1 |
A rare tumor of pancreas caused by mutations in the GCGR gene characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and markedly increased serum glucagon levels in the absence of a glucagonoma syndrome. Clinical manifestations may include abdominal pain, pancreatitis, fatigue, diarrhea, and diabetes mellitus. |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
1 |
Hyperplasia of choroid plexus (disorder) |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
1 |
Hyperplasia of myometrium (disorder) |
Associated morphology |
True |
Hyperplasia |
Inferred relationship |
Some |
1 |
Chronic hyperplastic inflammation |
Is a |
True |
Hyperplasia |
Inferred relationship |
Some |
|