Curved toe phalanx
|
phenotype |
|
Anatomical Abnormality
|
2
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Immune diffusion
|
phenotype |
|
Laboratory Procedure
|
3
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Gastrointestinal malrotation
|
phenotype |
|
Finding
|
3
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
DIABETES MELLITUS, INSULIN-DEPENDENT, 4
|
disease |
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Delayed social development
|
phenotype |
|
Finding
|
5
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormality of the ovary
|
disease |
|
Anatomical Abnormality
|
8
|
1
|
0.100 |
None |
|
0 |
|
|
|
Cohen syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Congenital Abnormality
|
10
|
292
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Childhood-onset truncal obesity
|
phenotype |
|
Finding
|
11
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
|
disease |
|
Disease or Syndrome
|
14
|
|
0.200 |
None |
1.000 |
4 |
|
2004 |
2015 |
Biliary tract abnormality
|
phenotype |
Digestive System Diseases
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Atresia of vagina
|
disease |
|
Congenital Abnormality
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Bardet-Biedl syndrome 1 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
20
|
65
|
0.940 |
None |
1.000 |
38 |
53
|
1999 |
2017 |
STARGARDT DISEASE 1 (disorder)
|
disease |
|
Disease or Syndrome
|
23
|
317
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Melanocortin 4 Receptor Deficiency
|
phenotype |
|
Finding
|
24
|
28
|
0.100 |
None |
|
0 |
1
|
|
|
Poor coordination
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
26
|
8
|
0.100 |
None |
|
0 |
|
|
|
Overweight
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
27
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Medial flaring of the eyebrow
|
disease |
|
Finding
|
28
|
2
|
0.100 |
None |
|
0 |
|
|
|
Vitamin B 12 Deficiency
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
29
|
11
|
0.100 |
None |
|
0 |
1
|
|
|
obsolete Rod-cone dystrophy
|
disease |
|
Disease or Syndrome
|
29
|
41
|
0.100 |
None |
|
0 |
2
|
|
|
Apraxia of Phonation
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
30
|
9
|
0.100 |
None |
|
0 |
1
|
|
|
Broad foot
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Talipes transversoplanus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Night blindness, congenital stationary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
32
|
52
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Urogenital Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
42
|
3
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Radial deviation of finger
|
phenotype |
|
Finding
|
42
|
|
0.100 |
None |
|
0 |
|
|
|