HOLOPROSENCEPHALY 7
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
7
|
0.710 |
None |
1.000 |
6 |
7
|
1996 |
2016 |
Nevoid Basal Cell Carcinoma Syndrome Associated Medulloblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Malignant basal cell tumor
|
disease |
Neoplasms
|
Neoplastic Process
|
1
|
|
0.200 |
None |
1.000 |
1 |
|
1999 |
1999 |
Schilbach-Rott Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2019 |
2019 |
9q22.3 Microdeletion
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Nevus sebaceus
|
disease |
Neoplasms
|
Neoplastic Process
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Fusion of the left and right thalami
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Anomalous branches of internal carotid artery
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Pits of palms and soles
|
phenotype |
|
Finding
|
1
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
Enlarged epiphyses of the proximal phalanges of the hand
|
phenotype |
|
Anatomical Abnormality
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Contracture of the distal interphalangeal joint of the fingers
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Humeral cortical thickening
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormal uvea morphology
|
phenotype |
|
Anatomical Abnormality
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Basal cell nevus
|
disease |
Neoplasms
|
Neoplastic Process
|
2
|
1
|
0.120 |
None |
0.500 |
2 |
1
|
2006 |
2007 |
Calcifying Epithelial Odontogenic Tumor
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Basal cell carcinoma, multiple
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Neoplastic Process
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Medulloblastoma, SHH-Activated
|
disease |
|
Neoplastic Process
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Fused sternal ossification centers
|
phenotype |
|
Finding
|
2
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Dense metaphyseal bands
|
phenotype |
|
Finding
|
2
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Distal tibial bowing
|
disease |
|
Anatomical Abnormality
|
2
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Moderate hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Finding
|
2
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormal Descemet membrane morphology
|
phenotype |
|
Anatomical Abnormality
|
2
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormality of skin adnexa morphology
|
phenotype |
|
Anatomical Abnormality
|
2
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Fetal rhabdomyoma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
|
Neoplastic Process
|
3
|
|
0.020 |
None |
1.000 |
2 |
|
2006 |
2013 |
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1
|
disease |
|
Finding
|
3
|
3
|
0.500 |
None |
1.000 |
2 |
1
|
1996 |
1998 |