C1834870 |
MIRROR MOVEMENTS 1
|
phenotype |
|
Finding
|
|
|
1 |
6 |
C1835044 |
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
|
disease |
|
Finding
|
|
|
1 |
19 |
C1836892 |
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
|
disease |
|
Finding
|
|
|
1 |
3 |
C1837007 |
DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
3 |
C1837213 |
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO
|
disease |
|
Finding
|
genetic disease; syndrome; physical disorder
|
|
1 |
1 |
C1837315 |
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
|
disease |
|
Finding
|
|
|
1 |
6 |
C1838564 |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
|
disease |
|
Finding
|
|
|
1 |
2 |
C1839841 |
SPERMATOGENIC FAILURE, X-LINKED, 2
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
2 |
C1840437 |
Isolated hyperchlorhidrosis
|
phenotype |
|
Finding
|
genetic disease; disease of anatomical entity
|
|
1 |
2 |
C1842675 |
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
12 |
C1843244 |
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
|
disease |
|
Disease or Syndrome
|
disease of anatomical entity
|
|
1 |
1 |
C1843792 |
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity; disease of mental health
|
|
1 |
1 |
C1844853 |
Brachytelephalangic Chondrodysplasia Punctata
|
disease |
|
Disease or Syndrome
|
genetic disease; syndrome
|
|
1 |
2 |
C1845341 |
ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1 (disorder)
|
disease |
|
Disease or Syndrome
|
|
|
1 |
0 |
C1845540 |
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1 (finding)
|
disease |
|
Finding
|
|
|
1 |
0 |
C1846862 |
PARKINSON DISEASE 8 (disorder)
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
30 |
C1853202 |
PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
|
disease |
|
Finding
|
|
|
1 |
1 |
C1853508 |
ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2
|
disease |
|
Finding
|
|
|
1 |
4 |
C1853755 |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY
|
disease |
|
Disease or Syndrome
|
|
|
1 |
4 |
C1856058 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
47 |
C1857144 |
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
1 |
C1858535 |
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 2 (disorder)
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity; physical disorder
|
|
1 |
5 |
C1859817 |
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
|
disease |
|
Finding
|
genetic disease; disease of metabolism
|
|
1 |
1 |
C1860238 |
WOOLLY HAIR, AUTOSOMAL DOMINANT
|
disease |
|
Finding
|
|
|
1 |
1 |
C1860752 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
|
disease |
|
Disease or Syndrome
|
disease of anatomical entity
|
|
1 |
9 |