Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Barber-Say syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Barber-Say syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
Congenital generalized hypertrichosis (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
An X-linked clinical subtype of L1 syndrome with characteristics of mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs and mild to moderate distension of the cerebral ventricles. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
An X-linked clinical subtype of L1 syndrome with characteristics of mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs and mild to moderate distension of the cerebral ventricles. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
An X-linked clinical subtype of L1 syndrome with characteristics of mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs and mild to moderate distension of the cerebral ventricles. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
6 |
Stenosis of fetal common atrioventricular valve (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Stenosis of fetal tricuspid valve (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Reactive attachment disorder of early childhood |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Aplasia cutis congenita of limb (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
46,XY disorder of sex development due to maternal ingestion of progestogen (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Basal encephalocele (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Basal encephalocele (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
46 XY disorder of sex development due to maternal ingestion of estrogen (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
46,XX disorder of sex development due to maternal Krukenberg neoplasm (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
46,XX disorder of sex development due to maternal adrenal neoplasm (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Atresia of mitral valve with absent atrioventricular connection |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Atresia of mitral valve with absent atrioventricular connection |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Ablepharon of bilateral eyelids (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Ablepharon of bilateral eyelids (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
46,XX disorder of sex development due to maternal androluteoma (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
46,XX disorder of sex development due to maternal arrhenoblastoma (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital parachute malformation of right atrioventricular valve (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital parachute malformation of right atrioventricular valve (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Dextraposition of aorta in Fallot's tetralogy |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
Constriction ring of upper limb with acrosyndactyly and amputation |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Constriction ring syndrome of lower limb with amputation |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Residual infantile autism |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Childhood disorder of conduct and emotion |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Blue sclera of bilateral eyes |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Blue sclera of bilateral eyes |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Placenta circummarginate (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Placenta circummarginate (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Exaggerated placental site (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Clinodactyly of bilateral toes (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Clinodactyly of bilateral toes (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Bilateral coloboma of macula |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Bilateral coloboma of macula |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Bilateral coloboma of lens |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Bilateral coloboma of lens |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Developmental anomaly of bilateral pleurae (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Developmental anomaly of bilateral pleurae (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Placental site nodule (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Autosomal recessive asexual dwarfism |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Hypothyroid dwarfism |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
X-linked asexual dwarfism |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Nonfamilial asexual dwarfism |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Asexual dwarfism |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Condition where roots of adjacent teeth approximate each other resulting in minimal bone between teeth. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Childhood onset conduct-dissocial disorder with limited prosocial emotions (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Childhood onset conduct-dissocial disorder with normal prosocial emotions (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Childhood onset conduct-dissocial disorder |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Fetal cystic hygroma co-occurrent with hydrops |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency non classic form |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency classic form (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital hypertrophy of lateral fold of hallux |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital distichiasis of bilateral eyelashes (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital distichiasis of bilateral eyelashes (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Congenital distichiasis of bilateral eyelashes (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Congenital distichiasis of bilateral eyelashes (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Congenital instability of spine |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital hypertrophy of bilateral lower limbs (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital hypertrophy of bilateral lower limbs (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Conduct disorder, childhood-onset type |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Oppositional defiant disorder |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Socialized behavior disorder (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Oppositional defiant disorder co-occurrent with chronic irritability-anger with normal prosocial emotions (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Oppositional defiant disorder without chronic irritability-anger (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Oppositional defiant disorder without chronic irritability-anger with limited prosocial emotions (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Oppositional defiant disorder without chronic irritability-anger with normal prosocial emotions (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Conduct disorder, adolescent-onset type |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Adolescent onset conduct-dissocial disorder (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Adolescent onset conduct-dissocial disorder with limited prosocial emotions (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Adolescent onset conduct-dissocial disorder with normal prosocial emotions (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Maroteaux-Lamy syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Maroteaux-Lamy syndrome, severe form |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Maroteaux-Lamy syndrome, intermediate form |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Unsocial childhood truancy |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Maroteaux-Lamy syndrome, mild form (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Active infantile autism |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Infantile autism (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Failure to thrive in infant (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Failure to thrive in neonate (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Failure to thrive in infant with AIDS (acquired immunodeficiency syndrome) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Deficient mural leaflet of left ventricular component of common atrioventricular valve |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital dislocation of bilateral knees (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital dislocation of bilateral knees (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Congenital anomaly of lobe of ear |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Bilateral congenital entropion |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Bilateral congenital entropion |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Congenital crumpled ear |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital coronal cleft of vertebra (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Cornea plana of bilateral corneas (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Cornea plana of bilateral corneas (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Congenital stenosis of spinal canal (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital regurgitation of truncal valve |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital abnormal retraction of bilateral eyelids (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |