Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Long segment Hirschsprung's disease |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
3 |
Congenital hypertrophy of pulmonary valve |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Macrodactyly of fingers - simple |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Macrodactyly of fingers- fatty nerve tumor |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Congenital overgrowth of partial lower limb |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Short segment Hirschsprung's disease |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
3 |
Fallot's trilogy |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
3 |
Macrodactyly of hand |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Total intestinal aganglionosis |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
2 |
Macrodactylia of fingers |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease. |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
2 |
Congenital hypertrophy of mitral valve |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females cannot be ruled out. |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
3 |
Macrodactyly of toes - simple |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Hypertrophy of labia |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated. |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
2 |
Hypertrophy of fat pad of right knee (disorder) |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Hypertrophy of fat pad of left knee (disorder) |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Chronic hypertrophic rhinitis |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
3 |
Overgrowth of whole upper limb |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Overgrowth of partial upper limb |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Michelin-tyre baby |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Insulin lipohypertrophy |
Associated morphology |
False |
Hypertrophy |
Inferred relationship |
Some |
2 |
Fat hypertrophy |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Overgrowth of upper limb |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Fat hypertrophy due to injection of drug or medicament (disorder) |
Associated morphology |
False |
Hypertrophy |
Inferred relationship |
Some |
2 |
Adiposis tuberosa simplex (disorder) |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
2 |
Hypertrophic rhinitis |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
2 |
Mild left ventricular hypertrophy |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Moderate left ventricular hypertrophy (disorder) |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Severe left ventricular hypertrophy (disorder) |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Congenital hypertrophy of lateral fold of hallux |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Congenital hypertrophy of bilateral lower limbs (disorder) |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Congenital hypertrophy of bilateral lower limbs (disorder) |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
2 |
Congenital hypertrophy of retinal pigment epithelium of bilateral eyes (disorder) |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Congenital hypertrophy of retinal pigment epithelium of bilateral eyes (disorder) |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
2 |
Congenital hypertrophy of retinal pigment epithelium of left eye (disorder) |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Congenital hypertrophy of retinal pigment epithelium of right eye |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Hypertrophic cardiomyopathy due to glycogen storage disease |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Hypertrophic cardiomyopathy due to lysosomal disease |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Fetal hypertrophic cardiomyopathy due to maternal diabetes mellitus |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Fetal hypertrophic cardiomyopathy (disorder) |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Fetal hypertrophic cardiomyopathy due to twin to twin transfusion syndrome (disorder) |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
2 |
Fetal hypertrophic cardiomyopathy associated with renal disease |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
2 |
Hypertrophic cardiomyopathy due to Friedreich ataxia |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Hypertrophic cardiomyopathy due to neuromuscular disorder |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Hypertrophic cardiomyopathy due to hyperthyroidism |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Hypertrophic cardiomyopathy due to disorder |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Acquired hypertrophy of left cardiac ventricle |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
5 |
Fat hypertrophy due to injection of drug or medicament (disorder) |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Insulin lipohypertrophy |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Bilateral macrodactyly of toes |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Bilateral macrodactyly of toes |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
2 |
Macrodactyly of bilateral hands |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Macrodactyly of bilateral hands |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
2 |
Fetal heart failure with myocardial hypertrophy (disorder) |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Congenital hypertrophy of bilateral upper limbs (disorder) |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Congenital hypertrophy of bilateral upper limbs (disorder) |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
2 |
Frontal bossing |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Glycogen storage disease due to muscle and heart glycogen synthase deficiency is characterized by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase. |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Hypertrophic interstitial neuropathy of trigeminal nerve (disorder) |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Hypertrophic interstitial neuropathy |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
2 |
Déjérine-Sottas disease |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
2 |
Cheiromegaly (disorder) |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Hypertrophy of neck of urinary bladder (disorder) |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
A rare mitochondrial disease characterized by neonatal onset of severe cardiac and/or neurologic signs and symptoms mostly associated with a fatal outcome in the neonatal period or in infancy, although a milder phenotype with later onset and slowly progressive neurologic deterioration has also been reported. Clinical manifestations are variable and include respiratory insufficiency, hypotonia, cardiomyopathy, and seizures. Serum lactate is elevated in most cases. Brain imaging may show cerebellar atrophy or hypoplasia. |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Pituitary hypertrophy |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
A rare mitochondrial disease characterized by prenatal or early infantile onset of severe cardiomyopathy, failure to thrive and global developmental delay, sensorineural hearing loss, and severe lactic acidosis. Hepatic involvement and adrenal insufficiency, as well as encephalopathy and anomalies of deep gray matter structures on brain MRI have also been reported. |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Bilateral hypertrophy of infrapatellar fat pads |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Bilateral hypertrophy of infrapatellar fat pads |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
2 |
Hypertrophy of bilateral masseter muscles (disorder) |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Hypertrophy of bone of right hand (disorder) |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Bone hypertrophy of left hand |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Bilateral hypertrophy of bone of hands |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Bilateral hypertrophy of bone of hands |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
2 |
Bone hypertrophy of right ulna |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Hypertrophy of bone of left ulna (disorder) |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Hypertrophy of bone of bilateral ankle joint regions (disorder) |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Hypertrophy of bone of bilateral ankle joint regions (disorder) |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
2 |
Hypertrophy of bilateral masseter muscles (disorder) |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
2 |
Apical hypertrophic cardiomyopathy |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Hypertrophy of bone of left fibula (disorder) |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Hypertrophy of bone of left femur (disorder) |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Bone hypertrophy of right femur |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Bone hypertrophy of left tibia |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Bone hypertrophy of right tibia |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Hypertrophy of bone of right fibula (disorder) |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Macrodactyly of finger of left hand (disorder) |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Macrodactyly of finger of right hand (disorder) |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Skin graft hypertrophy (disorder) |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
3 |
Hypertrophy of synovium of left foot |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Bilateral hypertrophy of synovium of feet |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Bilateral hypertrophy of synovium of feet |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
2 |
Hypertrophy of synovium of right foot |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Synovial hypertrophy of left hand |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Synovial hypertrophy of right hand |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Bilateral hypertrophy of synovium of ankles |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Bilateral hypertrophy of synovium of ankles |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
2 |
Bone hypertrophy of left foot |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |
Bilateral bone hypertrophy of feet |
Associated morphology |
True |
Hypertrophy |
Inferred relationship |
Some |
1 |