Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Adrenomyodystrophy (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital muscular dystrophy with hyperlaxity (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Congenital myopathy with myasthenic-like onset (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital patent ductus arteriosus aneurysm |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Isolated congenital syngnathia (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Connective tissue disorder due to lysyl hydroxylase-3 deficiency |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Craniofaciofrontodigital syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Charcot-Marie-Tooth disease type 4B3 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Lethal congenital contracture syndrome type 5 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
X-linked Charcot-Marie-Tooth disease type 6 (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Spectrin-associated autosomal recessive cerebellar ataxia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Cerebrofacioarticular syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
X-linked hereditary motor and sensory neuropathy |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
X-linked hereditary spastic paraplegia (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 48 (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Familial progressive hyper and hypopigmentation |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Autosomal recessive spastic paraplegia type 5A |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Autosomal spastic paraplegia type 30 (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
X-linked Charcot-Marie-Tooth disease type 4 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Ichthyosis prematurity syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Lethal multiple pterygium syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Lethal multiple pterygium syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Lethal multiple pterygium syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Autosomal recessive spastic paraplegia type 11 (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Autosomal recessive spastic paraplegia type 39 (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Autosomal dominant spastic paraplegia type 36 (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Autosomal recessive spastic paraplegia type 44 (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Autosomal recessive spastic paraplegia type 46 (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Autosomal recessive spastic paraplegia type 53 (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Autosomal recessive spastic paraplegia type 54 (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Autosomal recessive spastic paraplegia type 55 (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Autosomal recessive spastic paraplegia type 57 (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Autosomal recessive spastic paraplegia type 32 (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Autosomal recessive spastic paraplegia type 26 (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Autosomal recessive spastic paraplegia type 23 (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Autosomal recessive spastic paraplegia type 64 (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Autosomal recessive spastic paraplegia type 63 (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Autosomal recessive spastic paraplegia type 61 (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Spastic paraplegia with Paget disease of bone syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Autosomal recessive spastic paraplegia type 18 (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Autosomal recessive spastic paraplegia type 25 (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Autosomal dominant spastic paraplegia type 29 (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Spastic paraplegia, facial cutaneous lesion syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Ring chromosome 15 syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Ring chromosome 16 syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Ring chromosome Y syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
X-linked Charcot-Marie-Tooth disease type 1 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
X-linked Charcot-Marie-Tooth disease type 2 (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
X-linked Charcot-Marie-Tooth disease type 3 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
X-linked Charcot-Marie-Tooth disease type 5 (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
X-linked lethal multiple pterygium syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
X-linked lethal multiple pterygium syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Distal monosomy 13q syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Distal monosomy 3p syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Distal monosomy 7q36 syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Distal monosomy 9p syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Familial nasal acilia (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Hyperphalangy |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Cleft lip and cleft of alveolar process of maxilla (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Cleft hard palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Cleft hard palate with left cleft lip and cleft of left alveolar process of maxilla (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Cleft hard palate with right cleft lip and cleft of right alveolar process of maxilla (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Cleft soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Cleft soft palate with left cleft lip and cleft of left alveolar process of maxilla (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Cleft soft palate with right cleft lip and cleft of right alveolar process of maxilla |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Cleft hard and soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Cleft hard and soft palate with left cleft lip and left alveolar process of maxilla (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Cleft hard and soft palate with right cleft lip and cleft of right alveolar process of maxilla (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Incomplete left cleft lip and incomplete cleft of left alveolar process of maxilla |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Incomplete right cleft lip and incomplete cleft of right alveolar process of maxilla |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Velofacioskeletal syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Primary laryngeal lymphangioma |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Wiedemann Steiner syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
White forelock with malformations syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
5 |
Trichodermodysplasia and dental alterations syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
5 |
Syndactyly type 6 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Craniodigital syndrome and intellectual disability syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Spastic ataxia with congenital miosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
46,XY ovotesticular disorder of sex development |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Familial multiple nevi flammei (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Familial vesicoureteral reflux (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Finnish upper limb onset distal myopathy |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Hypermethioninemia due to deficiency of glycine N-methyltransferase |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Hypotonia, speech impairment, severe cognitive delay syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Familial isolated clinodactyly of finger (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Intellectual disability, alacrima, achalasia syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Intellectual disability, polydactyly, uncombable hair syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Intellectual disability, spasticity, ectrodactyly syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Intellectual disability, brachydactyly, Pierre Robin syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Intellectual disability Wolff type |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital interventricular septum aneurysm |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Isolated congenital adermatoglyphia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Dislocation of hip and facial dysmorphism syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Erythema palmare hereditarium |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |