#
|
Entity
|
Type
|
Relation
|
Support
|
Relative specificity
|
1
|
Structure of wormian bone
|
Other
|
Known
|
Explain
|
|
2
|
Somatotropin deficiency
|
Disease
|
Known
|
Explain
|
|
3
|
Congenital Heart Defects
|
Other
|
Known
|
Explain
|
|
4
|
CORTICAL DEFECTS, WORMIAN BONES, AND DENTINOGENESIS IMPERFECTA
|
Disease
|
Inferred
|
Explain
|
|
5
|
OSTEOGENESIS IMPERFECTA WITH OPALESCENT TEETH, BLUE SCLERAE AND WORMIAN BONES, BUT WITHOUT FRACTURES
|
Disease
|
Inferred
|
Explain
|
|
6
|
PITUITARY DWARFISM I
|
Disease
|
Inferred
|
Explain
|
|
7
|
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II
|
Disease
|
Inferred
|
Explain
|
|
8
|
Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked
|
Disease
|
Inferred
|
Explain
|
|
9
|
Dentinogenesis Imperfecta
|
Other
|
Inferred
|
Explain
|
|
10
|
SHORT STATURE, IDIOPATHIC, AUTOSOMAL
|
Disease
|
Inferred
|
Explain
|
|
11
|
Opalescent teeth
|
Disease
|
Inferred
|
Explain
|
|
12
|
ENCEPHALOPATHY WITH INTRACRANIAL CALCIFICATION, GROWTH HORMONE DEFICIENCY, MICROCEPHALY, AND RETINAL DEGENERATION
|
Disease
|
Inferred
|
Explain
|
|
13
|
Blue sclera
|
Other
|
Inferred
|
Explain
|
|
14
|
Kallmann Syndrome
|
Disease
|
Inferred
|
Explain
|
|
15
|
Isolated growth hormone deficiency
|
Disease
|
Inferred
|
Explain
|
|
16
|
Osteogenesis imperfecta, type 1A
|
Other
|
Inferred
|
Explain
|
|
17
|
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility (disorder)
|
Disease
|
Inferred
|
Explain
|
|
18
|
GH1 gene
|
Gene
|
Inferred
|
Explain
|
|
19
|
Hereditary Opalescent Dentin (disorder)
|
Disease
|
Inferred
|
Explain
|
|
20
|
Dentinogenesis imperfecta - Shield's type III (disorder)
|
Other
|
Inferred
|
Explain
|
|
21
|
Hypogammaglobulinemia
|
Disease
|
Inferred
|
Explain
|
|
22
|
DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1
|
Disease
|
Inferred
|
Explain
|
|
23
|
Intracranial calcifications
|
Disease
|
Inferred
|
Explain
|
|
24
|
MENTAL RETARDATION, X-LINKED, WITH ISOLATED GROWTH HORMONE DEFICIENCY
|
Disease
|
Inferred
|
Explain
|
|
25
|
growth hormone activity
|
Function
|
Inferred
|
Explain
|
|
26
|
Hypoplastic Left Heart Syndrome
|
Disease
|
Inferred
|
Explain
|
|
27
|
2,3,7,8-tetrachlorodibenzofuran
|
Compound
|
Inferred
|
Explain
|
|
28
|
Levocardia
|
Other
|
Inferred
|
Explain
|
|
29
|
Agammaglobulinemia
|
Disease
|
Inferred
|
Explain
|
|
30
|
DSPP gene
|
Gene
|
Inferred
|
Explain
|
|
31
|
Arrhythmogenic Right Ventricular Dysplasia
|
Disease
|
Inferred
|
Explain
|
|
32
|
Tricuspid Atresia
|
Other
|
Inferred
|
Explain
|
|
33
|
Encephalopathy Adverse Event
|
Disease
|
Inferred
|
Explain
|
|
34
|
Encephalopathies
|
Disease
|
Inferred
|
Explain
|
|
35
|
Turner Syndrome
|
Disease
|
Inferred
|
Explain
|
|
36
|
Wolff-Parkinson-White Syndrome
|
Disease
|
Inferred
|
Explain
|
|
37
|
Tetralogy of Fallot
|
Other
|
Inferred
|
Explain
|
|
38
|
Transposition of Great Vessels
|
Other
|
Inferred
|
Explain
|
|
39
|
2,3,4,7,8-pentachlorodibenzofuran
|
Compound
|
Inferred
|
Explain
|
|
40
|
HIRSCHSPRUNG DISEASE WITH HEART DEFECTS, LARYNGEAL ANOMALIES, AND PREAXIAL POLYDACTYLY
|
Disease
|
Inferred
|
Explain
|
|
41
|
ECTRODACTYLY OF LOWER LIMBS, CONGENITAL HEART DEFECT, AND MICROGNATHIA
|
Disease
|
Inferred
|
Explain
|
|
42
|
Ritanserin
|
Compound
|
Inferred
|
Explain
|
|
43
|
Isolated Noncompaction of the Ventricular Myocardium
|
Disease
|
Inferred
|
Explain
|
|
44
|
Entire heart
|
Other
|
Inferred
|
Explain
|
|
45
|
Alagille Syndrome
|
Other
|
Inferred
|
Explain
|
|
46
|
Tooth Abnormalities
|
Other
|
Inferred
|
Explain
|
|
47
|
Dextrocardia
|
Other
|
Inferred
|
Explain
|
|
48
|
Cardiovascular Abnormalities
|
Disease
|
Inferred
|
Explain
|
|
49
|
polychlorodibenzo-4-dioxin
|
Compound
|
Inferred
|
Explain
|
|
50
|
benzo(k)fluoranthene
|
Compound
|
Inferred
|
Explain
|
|
51
|
3,4,3',4'-tetrachlorobiphenyl
|
Compound
|
Inferred
|
Explain
|
|
52
|
Heart Septal Defects
|
Disease
|
Inferred
|
Explain
|
|
53
|
ARTERIAL OCCLUSIVE DISEASE, PROGRESSIVE, WITH HYPERTENSION, HEART DEFECTS, BONE FRAGILITY, AND BRACHYSYNDACTYLY
|
Disease
|
Inferred
|
Explain
|
|
54
|
Noonan Syndrome
|
Disease
|
Inferred
|
Explain
|
|
55
|
LEOPARD Syndrome
|
Disease
|
Inferred
|
Explain
|
|
56
|
Orstavik Lindemann Solberg syndrome
|
Disease
|
Inferred
|
Explain
|
|
57
|
Adams Oliver syndrome
|
Disease
|
Inferred
|
Explain
|
|
58
|
3-Methylglutaconic aciduria type 2
|
Disease
|
Inferred
|
Explain
|
|
59
|
Aortic coarctation
|
Other
|
Inferred
|
Explain
|
|
60
|
ZNF469 gene
|
Gene
|
Inferred
|
Explain
|
|
61
|
Marfan Syndrome
|
Disease
|
Inferred
|
Explain
|
|
62
|
SHOX gene
|
Gene
|
Inferred
|
Explain
|
|
63
|
LEFTY2 gene
|
Gene
|
Inferred
|
Explain
|
|
64
|
Retinal Degeneration
|
Disease
|
Inferred
|
Explain
|
|
65
|
nitrofen
|
Compound
|
Inferred
|
Explain
|
|
66
|
Acitretin
|
Compound
|
Inferred
|
Explain
|
|
67
|
Patent ductus arteriosus
|
Other
|
Inferred
|
Explain
|
|
68
|
AICARDI-GOUTIERES SYNDROME 1
|
Disease
|
Inferred
|
Explain
|
|
69
|
Spastic paraplegia with Kallmann syndrome
|
Disease
|
Inferred
|
Explain
|
|
70
|
GP1BB gene
|
Gene
|
Inferred
|
Explain
|
|
71
|
TBX1 gene
|
Gene
|
Inferred
|
Explain
|
|
72
|
3,4,5,3',4'-pentachlorobiphenyl
|
Compound
|
Inferred
|
Explain
|
|
73
|
Anosmia
|
Disease
|
Inferred
|
Explain
|
|
74
|
RCAN1 gene
|
Gene
|
Inferred
|
Explain
|
|
75
|
Heart
|
Other
|
Inferred
|
Explain
|
|
76
|
Vitamin B 12
|
Compound
|
Inferred
|
Explain
|
|
77
|
HOXA3 gene
|
Gene
|
Inferred
|
Explain
|
|
78
|
UFD1L gene
|
Gene
|
Inferred
|
Explain
|
|
79
|
PROKR2 gene
|
Gene
|
Inferred
|
Explain
|
|
80
|
BTK gene
|
Gene
|
Inferred
|
Explain
|
|
81
|
CBFB gene
|
Gene
|
Inferred
|
Explain
|
|
82
|
HAND2 gene
|
Gene
|
Inferred
|
Explain
|
|
83
|
GHSR gene
|
Gene
|
Inferred
|
Explain
|
|
84
|
PITX2 gene
|
Gene
|
Inferred
|
Explain
|
|
85
|
homocysteine
|
Compound
|
Inferred
|
Explain
|
|
86
|
Congenital Abnormality
|
Other
|
Inferred
|
Explain
|
|
87
|
Lithium
|
Compound
|
Inferred
|
Explain
|
|
88
|
EYA1 gene
|
Gene
|
Inferred
|
Explain
|
|
89
|
WHIM syndrome
|
Disease
|
Inferred
|
Explain
|
|
90
|
Macrocephaly
|
Other
|
Inferred
|
Explain
|
|
91
|
KLF4 gene
|
Gene
|
Inferred
|
Explain
|
|
92
|
Long QT Syndrome
|
Disease
|
Inferred
|
Explain
|
|
93
|
ZEB2 gene
|
Gene
|
Inferred
|
Explain
|
|
94
|
KAL1 gene
|
Gene
|
Inferred
|
Explain
|
|
95
|
GNA11 gene
|
Gene
|
Inferred
|
Explain
|
|
96
|
Hypogonadotropic hypogonadism
|
Disease
|
Inferred
|
Explain
|
|
97
|
Male Pseudohermaphroditism
|
Disease
|
Inferred
|
Explain
|
|
98
|
PROK2 gene
|
Gene
|
Inferred
|
Explain
|
|
99
|
Microcephaly
|
Other
|
Inferred
|
Explain
|
|
100
|
Short stature
|
Disease
|
Inferred
|
Explain
|
|