C3891448 |
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
|
disease |
|
Finding
|
|
|
7 |
17 |
C2750850 |
GLIOMA SUSCEPTIBILITY 1
|
phenotype |
|
Finding
|
|
|
5 |
8 |
C4225426 |
THYROID CANCER, NONMEDULLARY, 2
|
disease |
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
|
4 |
8 |
C3160718 |
PARKINSON DISEASE, LATE-ONSET
|
disease |
|
Disease or Syndrome
|
disease of anatomical entity
|
|
3 |
11 |
C0268363 |
Osteogenesis imperfecta type IV (disorder)
|
disease |
|
Disease or Syndrome; Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
|
2 |
26 |
C1838990 |
ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL
|
disease |
|
Finding
|
|
|
2 |
1 |
C1855465 |
STARGARDT DISEASE 1 (disorder)
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
2 |
176 |
C3150902 |
C1q DEFICIENCY
|
disease |
|
Disease or Syndrome
|
|
|
2 |
1 |
C3715082 |
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
|
disease |
|
Disease or Syndrome
|
disease of anatomical entity
|
|
2 |
3 |
C4552122 |
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
disease |
|
Disease or Syndrome
|
disease of anatomical entity
|
|
2 |
3 |
C4746745 |
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
genetic disease
|
|
2 |
13 |
C0220721 |
CATARACT 46, JUVENILE-ONSET
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
1 |
C0241005 |
Creatine phosphokinase serum increased
|
phenotype |
|
Finding
|
genetic disease; disease of metabolism
|
Abnormality of metabolism/homeostasis
|
1 |
3 |
C0268418 |
Deficiency of glycerol kinase
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
Abnormality of metabolism/homeostasis
|
1 |
0 |
C0342765 |
D-Glyceric aciduria
|
disease |
|
Disease or Syndrome
|
|
|
1 |
1 |
C0544855 |
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3
|
phenotype |
|
Congenital Abnormality
|
disease of anatomical entity
|
|
1 |
0 |
C0796218 |
MENTAL RETARDATION, X-LINKED 12
|
disease |
|
Disease or Syndrome
|
|
|
1 |
4 |
C0796221 |
MENTAL RETARDATION, X-LINKED 15
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of mental health
|
|
1 |
1 |
C1291463 |
Deficiency of phosphoserine phosphatase
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
2 |
C1291564 |
Deficiency of aromatic-L-amino-acid decarboxylase
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
8 |
C1291607 |
Deficiency of maleylacetoacetate isomerase
|
disease |
|
Disease or Syndrome
|
|
|
1 |
0 |
C1414017 |
DEAFNESS, AUTOSOMAL RECESSIVE 25
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
4 |
C1415817 |
HETEROTAXY, VISCERAL, 2, AUTOSOMAL
|
disease |
|
Disease or Syndrome
|
physical disorder
|
|
1 |
1 |
C1824925 |
DEAFNESS, AUTOSOMAL RECESSIVE 70
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
1 |
C1833247 |
SCHIZOPHRENIA 4 (disorder)
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of mental health
|
|
1 |
7 |