| 2958 |
Rhizomelic chondrodysplasia punctata, GNPAT-related |
1 |
Target evidence
|
42.0 |
| 2959 |
REM sleep behaviour disorder, FAM8A1-related |
1 |
Animal disease only
|
|
| 2962 |
Hyperoxaluria, generic |
1 |
Human disease
|
34.0 |
| 2964 |
Thrombocytopenia, DUT-related |
1 |
Human disease
|
5.0 |
| 2966 |
Intestinal volvulus |
1 |
Human disease
|
9.0 |
| 2967 |
Plasminogen activator inhibitor-1 deficiency, SERPINE1-related |
1 |
Drug
|
75.5 |
| 2969 |
Hypothalamic hamartoma |
1 |
Human disease
|
6.5 |
| 2970 |
Cleft palate, syndromic, WDR33-related |
1 |
Animal disease only
|
|
| 2973 |
Rhizomelic chondrodysplasia punctata, PEX7-related |
1 |
Human disease
|
14.0 |
| 2974 |
Riemerella anatipestifer, susceptibility/resistance to |
1 |
Animal disease only
|
|
| 2976 |
Macular dystrophy, BEST1-related |
1 |
Target evidence
|
58.6 |
| 2977 |
Lipase deficiency, combined, LMF1-related |
1 |
Human disease
|
9.0 |
| 2978 |
Xanthomatosis |
1 |
Human disease
|
9.0 |
| 2979 |
Aneuploidy, monosomy, sex chromosome |
10 |
Animal disease only
|
|
| 2980 |
Aneuploidy, trisomy, sex chromosome XXX |
6 |
Animal disease only
|
|
| 2982 |
Aneuploidy, trisomy, sex chromosome XXY |
7 |
Human disease
|
34.0 |
| 2986 |
Aneuploidy, generic |
6 |
Animal disease only
|
|
| 2995 |
Polyploidy, generic |
5 |
Animal disease only
|
|
| 2996 |
Polyploidy, tetraploidy |
2 |
Animal disease only
|
|
| 2997 |
Chromosomal structural anomaly, translocation, centric fusion |
19 |
Animal disease only
|
|
| 2998 |
Chromosomal structural anomaly, translocation, generic |
8 |
Animal disease only
|
|
| 3002 |
Auditory-pigmentary syndrome, GRID1-related |
1 |
Animal disease only
|
|
| 3003 |
Depigmentation syndrome |
1 |
Animal disease only
|
|
| 3005 |
Infertility, ZP1-related |
1 |
Human disease
|
10.0 |
| 3006 |
Cholesteryl ester storage disease |
1 |
Human disease
|
34.0 |
| 3007 |
Aneuploidy, monosomy, autosomal |
2 |
Animal disease only
|
|
| 3009 |
Pinching-off syndrome |
1 |
Animal disease only
|
|
| 3010 |
Polyglucosan body myopathy, RBCK1-related |
1 |
Target evidence
|
62.9 |
| 3011 |
Ichthyosis, ALOXE3-related |
1 |
Human gene
|
34.0 |
| 3012 |
Dwarfism, primordial disproportionate with craniofacial dysmorphism, PDGFRA-related |
1 |
Animal disease only
|
|
| 3013 |
Dwarfism, primordial disproportionate, PRDM10-related |
1 |
Animal disease only
|
|
| 3019 |
Osteopetrosis, DCAF12L2-related |
1 |
Animal disease only
|
|
| 3020 |
Caudal and thoracic vertebral and viscerocranial malformation, SLC40A1-related |
1 |
Animal disease only
|
|
| 3021 |
Arachnomelia, generic |
2 |
Animal disease only
|
|
| 3022 |
Craniofacial dysplasia-hydrocephalus-dwarfism syndrome |
1 |
Animal disease only
|
|
| 3023 |
Ataxia and dyslipidemia, LIPC-related |
1 |
Animal disease only
|
|
| 3024 |
Dyplasias with multiple joint dislocations |
1 |
Animal disease only
|
|
| 3025 |
Cerebellar abiotrophy, CACNA2D2-related |
1 |
Human gene
|
29.0 |
| 3026 |
Porencephaly, SLC25A12-related |
1 |
Target evidence
|
57.0 |
| 3027 |
Chromosomal abnormality, isochromosome, sex chromosome |
2 |
Animal disease only
|
|
| 3028 |
Retinal atrophy, cone-rod dystrophy, SPATA7-related |
1 |
Target evidence
|
54.6 |
| 3029 |
Progeroid syndrome |
1 |
Human disease
|
31.5 |
| 3031 |
Deafness, LHFPL5-related |
1 |
Human gene
|
29.0 |
| 3033 |
Miosis |
1 |
Animal disease only
|
|
| 3037 |
Perinatal lethality, EGFR-related |
1 |
Animal disease only
|
|
| 3038 |
Paw pad hyperkeratosis, GJB6-related |
1 |
Target evidence
|
57.9 |
| 3039 |
Curly coat, KRT25-related |
1 |
Target evidence
|
53.0 |
| 3040 |
Mycobacterium marinum, susceptibility/resistance to |
1 |
Animal disease only
|
|
| 3041 |
Aeromonas hydrophila, susceptibility/resistance to |
1 |
Animal disease only
|
|
| 3043 |
Fanconi anaemia, FANCA-related |
1 |
Human disease
|
10.0 |
