Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
4 |
Dandy-Walker syndrome with spina bifida |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Macrocephaly, short stature, paraplegia syndrome (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
4 |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
3 |
Congenital pontocerebellar hypoplasia type 9 (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Congenital pontocerebellar hypoplasia type 9 (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Foveal hypoplasia with presenile cataract syndrome |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
2 |
[EDTA] Congenital renal hypoplasia - type unspecified associated with renal failure |
morphologie associée (attribut) |
False |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Leydig cell agenesis (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Ventricular imbalance with dominant left ventricle and hypoplastic right ventricle (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Ventricular imbalance with dominant right ventricle and hypoplastic left ventricle (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
achondrogenèse type 1A (trouble) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Congenital hypoganglionosis of large intestine (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Congenital hypoganglionosis of large intestine (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Acrorenal mandibular syndrome (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
3 |
Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
défaut de développement de la moelle épinière (trouble) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Hemifacial microsomia with radial defect syndrome (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Incomplete development of membranous labyrinth (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Hypoplastic tricuspid papillary muscle |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Hypoplasia of eye |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Rudimentary tracheal bronchus |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Congenital hypoplasia of finger (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
achondrogenèse (trouble) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
3 |
Hypoplasia of right atrioventricular valve annulus in double inlet ventricle (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Achondrogenesis, type II |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Hypoplastic mitral papillary muscle |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
4 |
Camptomelic dysplasia |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
4 |
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) |
morphologie associée (attribut) |
False |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
3 |
Achondroplasia |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Hypoplasia of left atrioventricular valve annulus in double inlet ventricle (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
4 |
Stimmler syndrome |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Hypotrichosis with juvenile macular degeneration syndrome (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
3 |
Achondrogenesis, type IB |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Hypoplasia of left ventricular inflow tract |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
3 |
Congenital pontocerebellar hypoplasia type 10 (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Congenital pontocerebellar hypoplasia type 10 (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Congenital muscular dystrophy with cerebellar involvement |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Lissencephaly with cerebellar hypoplasia type E |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type A (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) |
morphologie associée (attribut) |
False |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
5 |
Thoracomelic dysplasia (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Hypoplastic chondrodystrophy |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
3 |
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
3 |
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
3 |
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Undergrowth of whole hand |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Right hypoplastic heart syndrome |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Marie Unna syndrome |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Asymmetric crying face association (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
5 |
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
4 |
Septo-optic dysplasia sequence |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) |
morphologie associée (attribut) |
False |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
2 |
MASA syndrome |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Deficient mural leaflet of left ventricular component of common atrioventricular valve |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Hypoplasia of cranial sinus (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Congenital hypoplasia of annulus fibrosus of aorta (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
4 |
Primary congenital hypoplasia of bilateral lungs (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Primary congenital hypoplasia of bilateral lungs (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Hypoplasia of optic nerve due to central nervous system malformation |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Optic nerve hypoplasia due to endocrine deficiency |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Hypoplasia of right coronoid process of mandible (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Hypoplasia of left coronoid process of mandible |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Hypoplasia of right condyloid process of mandible (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Hypoplasia of left condyloid process of mandible (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Oculo-auriculo-vertebral spectrum |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Bilateral secondary hypoplasia of lung |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Bilateral secondary hypoplasia of lung |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
2 |
X-linked complicated corpus callosum dysgenesis (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Bilateral coronoid hypoplasia of mandible |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Bilateral condylar hypoplasia of mandible |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Endosteal hyperostoses with cerebellar hypoplasia |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
6 |
Aase syndrome |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Left acquired malar hypoplasia |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Right acquired malar hypoplasia |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Acquired hypoplasia of bilateral zygomatic bones (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Acquired hypoplasia of bilateral zygomatic bones (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Short stature, brachydactyly, obesity, global developmental delay syndrome |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
3 |
SATB2-associated syndrome |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) |
morphologie associée (attribut) |
True |
Hypoplasia (morphologic abnormality) |
Inferred relationship |
Some |
3 |