Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Spondyloepiphyseal dysplasia Stanescu type |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Decreased amniotic fluid production |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
PCNA-related progressive neurodegenerative photosensitivity syndrome |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Bilateral hypotony of eyes due to ocular fistula |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Hypotony of left eye due to ocular fistula (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Hypotony of right eye due to ocular fistula |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Loss of subcutaneous fat |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Loss of subcutaneous fat overlying biceps muscle (finding) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Loss of subcutaneous fat overlying triceps muscle (finding) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Loss of subcutaneous fat overlying rib (finding) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Duane retraction syndrome with congenital deafness |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Postpartum afibrinogenemia with hemorrhage |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
5 |
Psychogenic syncope (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Psychogenic syncope (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Congenital cochleovestibular malformation |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Alstrom syndrome |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Xeroderma of eyelid |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Xeroderma |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Pigmented xerodermoid |
Has interpretation |
False |
Decreased |
Inferred relationship |
Some |
1 |
Xeroderma pigmentosum, group D |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Xeroderma pigmentosum, variant form |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Xeroderma pigmentosum, group E |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Xeroderma pigmentosum, group G |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Xeroderma pigmentosum, group F |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Xeroderma pigmentosum, group A |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Xeroderma pigmentosum |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Xeroderma pigmentosum, group C (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Vitamin A deficiency with xeroderma |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
XTE syndrome |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Non-neurologic xeroderma pigmentosum |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Xeroderma pigmentosum, group B |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Senile xeroderma |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Drug-induced ichthyosiform reaction |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Dry skin dermatitis |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Xeroderma in genetic syndrome (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Xerosis due to atopic dermatitis (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Xeroderma of left eyelid |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Xeroderma of right eyelid (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Xeroderma of right upper eyelid |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Xeroderma of left upper eyelid |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Xeroderma of lower eyelid |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Xeroderma of upper eyelid |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Severe dry skin |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Trichodysplasia xeroderma syndrome (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Dry skin of abdomen |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Xeroderma pigmentosum and Cockayne syndrome complex (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Arthrofibrosis |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of joint of left wrist region |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of right elbow |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of left shoulder (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of left knee (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of joint of left ankle region (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of joint of finger of left hand |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of left elbow |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of right knee (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of joint of right wrist region |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of joint of bilateral wrist regions (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Arthrofibrosis of joint of left hand (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of joint of right hand |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of joint of finger of right hand |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of right shoulder |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Bilateral arthrofibrosis fibrosis of knees |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Arthrofibrosis of joint of bilateral ankle regions (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Arthrofibrosis of joint of right ankle region |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of joint of bilateral hands (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Arthrofibrosis of joint of ankle |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of joint of hand |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of joint of wrist region |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of joint of elbow |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of joint of knee |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Arthrofibrosis of joint of shoulder region |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Otodental syndrome (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
46,XX ovarian dysgenesis, short stature syndrome (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Albinism with deafness syndrome (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Waardenburg syndrome type 3 (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Waardenburg syndrome |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Waardenburg Shah syndrome |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
6 |
Waardenburg syndrome type 2 (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Waardenburg syndrome type 1 (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Myopathic Ehlers-Danlos syndrome (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
6 |
Senter syndrome |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
5 |
Keratitis ichthyosis and deafness syndrome (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Hypothalamic adipsic hypernatremia syndrome (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Hypohidrosis due to neurological disorder (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Finding of decreased risk level |
Has interpretation |
False |
Decreased |
Inferred relationship |
Some |
1 |
Antenatal multi-minicore disease with arthrogryposis multiplex congenita |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Non-syndromic genetic hearing loss |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |