CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
8
|
0.780 |
None |
1.000 |
16 |
8
|
1994 |
2018 |
Thanatophoric dysplasia, type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
4
|
0.070 |
None |
1.000 |
7 |
3
|
1996 |
2017 |
CATSHL syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
1
|
10
|
0.710 |
None |
1.000 |
6 |
10
|
1995 |
2016 |
Familial acanthosis nigricans
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
1
|
1
|
0.030 |
None |
1.000 |
3 |
1
|
2007 |
2018 |
Osteochondropathy
|
group |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Bicoronal craniosynostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Achondroplastic dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Brain Development Abnormality
|
group |
Mental Disorders
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
< 0.001 |
1 |
|
2016 |
2016 |
SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Wide-cupped costochondral junctions
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Lumbar kyphosis in infancy
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Broad femoral metaphyses
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Lethal short-limbed short stature
|
disease |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormality of lower limb joint
|
disease |
|
Anatomical Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Spinal stenosis with reduced interpedicular distance
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Thimble-shaped middle phalanges of hand
|
disease |
|
Anatomical Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Dermatosis Papulosa Nigra
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Stucco keratosis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Inverted urothelial papilloma
|
disease |
|
Neoplastic Process
|
2
|
3
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Plagiocephaly, Nonsynostotic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Anatomical Abnormality
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Stage 0a Bladder Urothelial Carcinoma AJCC v6 and v7
|
disease |
|
Neoplastic Process
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
orthopedic disorders
|
group |
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Trident hand
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
2
|
2
|
0.100 |
None |
|
0 |
|
|
|
Temporal bossing
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|