ONTOLOGY REPORT - ANNOTATIONS |
|
Term: | microphthalmia |
|
Accession: | DOID:10629
|
browse the term
|
Definition: | Congenital or developmental anomaly in which the eyeballs are abnormally small. |
Synonyms: | exact_synonym: | microphthalmos; nanophthalmia; nanophthalmos; simple microphthalmos |
| narrow_synonym: | syndromic microphthalmia, dominant |
| related_synonym: | anophthalmia/microphthalmia |
| primary_id: | MESH:D008850 |
| alt_id: | RDO:0000404 |
| xref: | GARD:12085; ICD10CM:Q11.2; ICD9CM:743.1; ICD9CM:743.10; ICD9CM:743.11; NCI:C98989; OMIM:PS251600; OMIM:PS309800; OMIM:PS600165; ORDO:35612 |
For additional species annotation, visit the
Alliance of Genome Resources.
|
|
|
|
G |
Adam17 |
ADAM metallopeptidase domain 17 |
|
6 |
43,400,525 |
43,448,280 |
RGD:8554872 |
G |
Arhgap6 |
Rho GTPase activating protein 6 |
|
X |
26,314,561 |
26,845,242 |
RGD:13592920 |
G |
Arr3 |
arrestin 3 |
|
X |
70,438,590 |
70,452,140 |
RGD:8554872 |
G |
Bcor |
BCL6 co-repressor |
|
X |
11,570,155 |
11,692,022 |
RGD:13592920 |
G |
Bmp4 |
bone morphogenetic protein 4 |
|
15 |
20,776,060 |
20,791,013 |
RGD:13592920 RGD:8554872 |
G |
C1qtnf5 |
C1q and TNF related 5 |
|
8 |
48,443,515 |
48,445,639 |
RGD:8554872 |
G |
Cdh1 |
cadherin 1 |
|
19 |
38,768,467 |
38,838,395 |
RGD:8554872 |
G |
Cep83 |
centrosomal protein 83 |
|
7 |
35,739,553 |
35,847,618 |
RGD:8554872 |
G |
Chrd |
chordin |
|
11 |
83,858,503 |
83,867,543 |
RGD:8554872 |
G |
Cox7b |
cytochrome c oxidase subunit 7B |
|
X |
77,065,427 |
77,071,676 |
RGD:13592920 |
G |
Cyp26c1 |
cytochrome P450, family 26, subfamily C, polypeptide 1 |
|
1 |
256,369,410 |
256,380,649 |
RGD:8554872 |
G |
Dicer1 |
dicer 1 ribonuclease III |
|
6 |
128,388,084 |
128,453,234 |
RGD:8554872 |
G |
Efhd1 |
EF-hand domain family, member D1 |
|
9 |
94,362,249 |
94,408,884 |
RGD:8554872 |
G |
Ercc6 |
ERCC excision repair 6, chromatin remodeling factor |
|
16 |
8,734,028 |
8,804,610 |
RGD:11554173 |
G |
Fancd2 |
FA complementation group D2 |
|
4 |
145,489,869 |
145,551,479 |
RGD:11344906 |
G |
Fat4 |
FAT atypical cadherin 4 |
|
2 |
125,751,818 |
125,879,398 |
RGD:8554872 |
G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
14 |
82,272,322 |
82,287,739 |
RGD:8554872 |
G |
Fras1 |
Fraser extracellular matrix complex subunit 1 |
|
14 |
14,438,392 |
14,853,016 |
RGD:8554872 |
G |
Gja8 |
gap junction protein, alpha 8 |
|
2 |
199,050,854 |
199,052,470 |
RGD:2293186 |
G |
Gja8m1Cub |
gap junction protein, alpha 8; mutant 1 Cub |
|
|
|
|
RGD:2293186 |
G |
Gli2 |
GLI family zinc finger 2 |
|
13 |
34,829,021 |
35,049,172 |
RGD:8554872 |
G |
Grasp |
general receptor for phosphoinositides 1 associated scaffold protein |
|
7 |
142,869,785 |
142,877,551 |
RGD:8554872 |
G |
Hccs |
holocytochrome c synthase |
|
X |
26,294,028 |
26,303,461 |
RGD:1600417 RGD:13592920 |
G |
Hmx1 |
H6 family homeobox 1 |
|
14 |
80,540,558 |
80,544,607 |
RGD:11554173 |
G |
Ift172 |
intraflagellar transport 172 |
|
6 |
26,390,686 |
26,485,459 |
RGD:8554872 |
G |
Krtcap3 |
keratinocyte associated protein 3 |
|
6 |
26,485,126 |
26,486,695 |
RGD:8554872 |
G |
Lrp5 |
LDL receptor related protein 5 |
|
1 |
218,816,833 |
218,920,147 |
RGD:12793059 |
G |
Map3k1 |
mitogen-activated protein kinase kinase kinase 1 |
|
2 |
43,329,516 |
43,393,203 |
RGD:8554872 |
G |
Mfrp |
membrane frizzled-related protein |
|
8 |
48,437,720 |
48,443,421 |
RGD:11553922 RGD:8554872 RGD:13592920 |
G |
Mid1 |
midline 1 |
|
X |
25,458,782 |
25,839,941 |
RGD:13592920 |
G |
Mitf |
melanocyte inducing transcription factor |
|
4 |
130,172,484 |
130,425,496 |
RGD:8554872 |
G |
Myo1c |
myosin 1C |
|
10 |
63,803,311 |
63,819,614 |
RGD:8554872 |
G |
Ndst2 |
N-deacetylase and N-sulfotransferase 2 |
|
15 |
3,995,797 |
4,006,491 |
RGD:8554872 |
G |
Ndufb11 |
NADH:ubiquinone oxidoreductase subunit B11 |
|
X |
1,787,266 |
1,789,524 |
RGD:13592920 |
G |
Notch1 |
notch receptor 1 |
|
3 |
3,905,562 |
3,951,015 |
RGD:8554872 |
G |
Notch4 |
notch receptor 4 |
|
20 |
4,329,794 |
4,353,868 |
RGD:8554872 |
G |
Nr5a2 |
nuclear receptor subfamily 5, group A, member 2 |
|
13 |
53,750,470 |
53,870,288 |
RGD:8554872 |
G |
Otx2 |
orthodenticle homeobox 2 |
|
15 |
25,500,037 |
25,511,619 |
RGD:13592920 RGD:8554872 |
G |
Pax6 |
paired box 6 |
|
3 |
95,700,241 |
95,728,682 |
RGD:8552240 RGD:8554872 |
G |
Pfkp |
phosphofructokinase, platelet |
|
17 |
68,510,765 |
68,574,387 |
RGD:8554872 |
G |
Pitx3 |
paired-like homeodomain 3 |
|
1 |
265,886,766 |
265,899,947 |
RGD:11535071 RGD:11554173 |
G |
Plxnc1 |
plexin C1 |
|
7 |
35,848,083 |
36,000,969 |
RGD:8554872 |
G |
Prss56 |
serine protease 56 |
|
9 |
94,278,981 |
94,284,111 |
RGD:11554173 |
G |
Ptch1 |
patched 1 |
|
17 |
1,032,242 |
1,085,885 |
RGD:8554872 |
G |
Ralbp1 |
ralA binding protein 1 |
|
9 |
113,579,107 |
113,598,477 |
RGD:13592920 |
G |
Rax |
retina and anterior neural fold homeobox |
|
18 |
61,638,352 |
61,642,056 |
RGD:8554872 |
G |
Rpgrip1 |
RPGR interacting protein 1 |
|
15 |
28,521,287 |
28,575,046 |
RGD:8554872 |
G |
Sall3 |
spalt-like transcription factor 3 |
|
18 |
77,572,200 |
77,591,710 |
RGD:8554872 |
G |
Sez6l2 |
seizure related 6 homolog like 2 |
|
1 |
198,383,201 |
198,403,544 |
RGD:8554872 |
G |
Sfrp2 |
secreted frizzled-related protein 2 |
|
2 |
182,723,732 |
182,731,277 |
RGD:8554872 |
G |
Six6 |
SIX homeobox 6 |
|
6 |
95,816,749 |
95,821,729 |
RGD:8554872 RGD:13592920 |
G |
Sox14 |
SRY-box transcription factor 14 |
|
8 |
108,107,865 |
108,109,801 |
RGD:8554872 |
G |
Sox2 |
SRY-box transcription factor 2 |
|
2 |
121,165,137 |
121,167,545 |
RGD:13592920 |
G |
Stau2 |
staufen double-stranded RNA binding protein 2 |
|
5 |
2,257,910 |
2,497,429 |
RGD:10043154 |
G |
Stra6 |
signaling receptor and transporter of retinol STRA6 |
|
8 |
62,925,364 |
62,944,438 |
RGD:11554173 RGD:8554872 |
G |
Sulf1 |
sulfatase 1 |
|
5 |
5,999,520 |
6,186,901 |
RGD:8554872 |
G |
Tfap2a |
transcription factor AP-2 alpha |
|
17 |
24,653,342 |
24,670,457 |
RGD:8554872 |
G |
Tmem98 |
transmembrane protein 98 |
|
10 |
68,173,380 |
68,184,289 |
RGD:13592920 |
G |
Tshz2 |
teashirt zinc finger homeobox 2 |
|
3 |
166,469,752 |
166,748,558 |
RGD:8554872 |
G |
Vax2 |
ventral anterior homeobox 2 |
|
4 |
115,388,839 |
115,412,515 |
RGD:8554872 |
G |
Vsx2 |
visual system homeobox 2 |
|
6 |
108,285,031 |
108,308,588 |
RGD:8554872 |
G |
Wnt7a |
Wnt family member 7A |
|
4 |
122,994,425 |
123,040,609 |
RGD:8554872 |
|
G |
Smchd1 |
structural maintenance of chromosomes flexible hinge domain containing 1 |
|
9 |
119,675,750 |
119,818,620 |
RGD:11554173 RGD:7240710 RGD:8554872 |
|
G |
Nhs |
NHS actin remodeling regulator |
|
X |
34,312,102 |
34,675,912 |
RGD:7240710 RGD:8554872 |
|
G |
Hdac6 |
histone deacetylase 6 |
|
X |
15,295,372 |
15,316,673 |
RGD:7240710 RGD:8554872 |
|
G |
Mitf |
melanocyte inducing transcription factor |
|
4 |
130,172,484 |
130,425,496 |
RGD:8554872 RGD:7240710 |
|
G |
Alx1 |
ALX homeobox 1 |
|
7 |
44,751,865 |
44,771,458 |
RGD:7240710 RGD:8554872 |
|
G |
Smg9 |
SMG9 nonsense mediated mRNA decay factor |
|
1 |
81,259,450 |
81,282,893 |
RGD:8554872 RGD:7240710 |
|
G |
Vsx2 |
visual system homeobox 2 |
|
6 |
108,285,031 |
108,308,588 |
RGD:8554872 |
|
G |
Vsx2 |
visual system homeobox 2 |
|
6 |
108,285,031 |
108,308,588 |
RGD:8554872 RGD:7240710 |
|
G |
Rax |
retina and anterior neural fold homeobox |
|
18 |
61,638,352 |
61,642,056 |
RGD:7240710 RGD:8554872 |
|
G |
Gdf6 |
growth differentiation factor 6 |
|
5 |
23,056,345 |
23,072,666 |
RGD:7240710 RGD:8554872 |
|
G |
C1qtnf5 |
C1q and TNF related 5 |
|
8 |
48,443,515 |
48,445,639 |
RGD:8554872 |
G |
Mfrp |
membrane frizzled-related protein |
|
8 |
48,437,720 |
48,443,421 |
RGD:7240710 RGD:8554872 RGD:11553925 |
|
G |
C1qtnf5 |
C1q and TNF related 5 |
|
8 |
48,443,515 |
48,445,639 |
RGD:8554872 |
G |
Mfrp |
membrane frizzled-related protein |
|
8 |
48,437,720 |
48,443,421 |
RGD:8554872 |
G |
Prss56 |
serine protease 56 |
|
9 |
94,278,981 |
94,284,111 |
RGD:7240710 RGD:8554872 |
G |
Vsx2 |
visual system homeobox 2 |
|
6 |
108,285,031 |
108,308,588 |
RGD:8554872 |
|
G |
Gdf3 |
growth differentiation factor 3 |
|
4 |
155,417,667 |
155,422,014 |
RGD:7240710 RGD:8554872 |
|
G |
Aldh1a3 |
aldehyde dehydrogenase 1 family, member A3 |
|
1 |
127,302,920 |
127,337,828 |
RGD:7240710 RGD:8554872 |
|
G |
Six6 |
SIX homeobox 6 |
|
6 |
95,816,749 |
95,821,729 |
RGD:7240710 RGD:8554872 |
|
G |
Nhs |
NHS actin remodeling regulator |
|
X |
34,312,102 |
34,675,912 |
RGD:8554872 |
|
G |
Rbp4 |
retinol binding protein 4 |
|
1 |
256,806,476 |
256,813,678 |
RGD:7240710 RGD:8554872 |
|
G |
Vsx2 |
visual system homeobox 2 |
|
6 |
108,285,031 |
108,308,588 |
RGD:8554872 RGD:7240710 |
|
G |
Shh |
sonic hedgehog signaling molecule |
|
4 |
718,538 |
727,691 |
RGD:7240710 RGD:8554872 |
|
G |
Gdf3 |
growth differentiation factor 3 |
|
4 |
155,417,667 |
155,422,014 |
RGD:7240710 RGD:8554872 |
G |
Gdf6 |
growth differentiation factor 6 |
|
5 |
23,056,345 |
23,072,666 |
RGD:7240710 RGD:8554872 |
|
G |
Abcb6 |
ATP binding cassette subfamily B member 6 |
|
9 |
82,373,950 |
82,382,228 |
RGD:7240710 RGD:8554872 |
|
G |
Tenm3 |
teneurin transmembrane protein 3 |
|
16 |
46,422,676 |
46,929,023 |
RGD:8554872 RGD:7240710 |
|
G |
Aldh1a3 |
aldehyde dehydrogenase 1 family, member A3 |
|
1 |
127,302,920 |
127,337,828 |
RGD:8554872 |
G |
Stra6 |
signaling receptor and transporter of retinol STRA6 |
|
8 |
62,925,364 |
62,944,438 |
RGD:7240710 RGD:8554872 RGD:11554173 |
G |
Wnt7b |
Wnt family member 7B |
|
7 |
126,423,418 |
126,465,724 |
RGD:8554872 |
|
G |
Snx3 |
sorting nexin 3 |
|
20 |
47,225,382 |
47,263,390 |
RGD:7240710 |
|
G |
Adamts18 |
ADAM metallopeptidase with thrombospondin type 1 motif, 18 |
|
19 |
46,005,055 |
46,167,912 |
RGD:7240710 RGD:8554872 |
|
G |
Smad4 |
SMAD family member 4 |
|
18 |
69,626,682 |
69,657,373 |
RGD:12880033 |
G |
Vsx2 |
visual system homeobox 2 |
|
6 |
108,285,031 |
108,308,588 |
RGD:8554872 |
|
G |
Adam17 |
ADAM metallopeptidase domain 17 |
|
6 |
43,400,525 |
43,448,280 |
RGD:8554872 |
G |
Arr3 |
arrestin 3 |
|
X |
70,438,590 |
70,452,140 |
RGD:8554872 |
G |
Bcor |
BCL6 co-repressor |
|
X |
11,570,155 |
11,692,022 |
RGD:1600504 RGD:8554872 RGD:11554173 |
G |
Cdh1 |
cadherin 1 |
|
19 |
38,768,467 |
38,838,395 |
RGD:8554872 |
G |
Cep83 |
centrosomal protein 83 |
|
7 |
35,739,553 |
35,847,618 |
RGD:8554872 |
G |
Chrd |
chordin |
|
11 |
83,858,503 |
83,867,543 |
RGD:8554872 |
G |
Cyp26c1 |
cytochrome P450, family 26, subfamily C, polypeptide 1 |
|
1 |
256,369,410 |
256,380,649 |
RGD:8554872 |
G |
Dicer1 |
dicer 1 ribonuclease III |
|
6 |
128,388,084 |
128,453,234 |
RGD:8554872 |
G |
Efhd1 |
EF-hand domain family, member D1 |
|
9 |
94,362,249 |
94,408,884 |
RGD:8554872 |
G |
Fat4 |
FAT atypical cadherin 4 |
|
2 |
125,751,818 |
125,879,398 |
RGD:8554872 |
G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
14 |
82,272,322 |
82,287,739 |
RGD:8554872 |
G |
Fras1 |
Fraser extracellular matrix complex subunit 1 |
|
14 |
14,438,392 |
14,853,016 |
RGD:8554872 |
G |
Gli2 |
GLI family zinc finger 2 |
|
13 |
34,829,021 |
35,049,172 |
RGD:8554872 |
G |
Grasp |
general receptor for phosphoinositides 1 associated scaffold protein |
|
7 |
142,869,785 |
142,877,551 |
RGD:8554872 |
G |
Ift172 |
intraflagellar transport 172 |
|
6 |
26,390,686 |
26,485,459 |
RGD:8554872 |
G |
Krtcap3 |
keratinocyte associated protein 3 |
|
6 |
26,485,126 |
26,486,695 |
RGD:8554872 |
G |
Map3k1 |
mitogen-activated protein kinase kinase kinase 1 |
|
2 |
43,329,516 |
43,393,203 |
RGD:8554872 |
G |
Mitf |
melanocyte inducing transcription factor |
|
4 |
130,172,484 |
130,425,496 |
RGD:8554872 |
G |
Myo1c |
myosin 1C |
|
10 |
63,803,311 |
63,819,614 |
RGD:8554872 |
G |
Naa10 |
N(alpha)-acetyltransferase 10, NatA catalytic subunit |
|
X |
156,863,655 |
156,868,950 |
RGD:7240710 RGD:8554872 |
G |
Ndst2 |
N-deacetylase and N-sulfotransferase 2 |
|
15 |
3,995,797 |
4,006,491 |
RGD:8554872 |
G |
Notch1 |
notch receptor 1 |
|
3 |
3,905,562 |
3,951,015 |
RGD:8554872 |
G |
Notch4 |
notch receptor 4 |
|
20 |
4,329,794 |
4,353,868 |
RGD:8554872 |
G |
Nr5a2 |
nuclear receptor subfamily 5, group A, member 2 |
|
13 |
53,750,470 |
53,870,288 |
RGD:8554872 |
G |
Pax6 |
paired box 6 |
|
3 |
95,700,241 |
95,728,682 |
RGD:8554872 |
G |
Pfkp |
phosphofructokinase, platelet |
|
17 |
68,510,765 |
68,574,387 |
RGD:8554872 |
G |
Plxnc1 |
plexin C1 |
|
7 |
35,848,083 |
36,000,969 |
RGD:8554872 |
G |
Ptch1 |
patched 1 |
|
17 |
1,032,242 |
1,085,885 |
RGD:8554872 |
G |
Rax |
retina and anterior neural fold homeobox |
|
18 |
61,638,352 |
61,642,056 |
RGD:8554872 |
G |
Rpgrip1 |
RPGR interacting protein 1 |
|
15 |
28,521,287 |
28,575,046 |
RGD:8554872 |
G |
Sall3 |
spalt-like transcription factor 3 |
|
18 |
77,572,200 |
77,591,710 |
RGD:8554872 |
G |
Sez6l2 |
seizure related 6 homolog like 2 |
|
1 |
198,383,201 |
198,403,544 |
RGD:8554872 |
G |
Sfrp2 |
secreted frizzled-related protein 2 |
|
2 |
182,723,732 |
182,731,277 |
RGD:8554872 |
G |
Six6 |
SIX homeobox 6 |
|
6 |
95,816,749 |
95,821,729 |
RGD:8554872 |
G |
Sox14 |
SRY-box transcription factor 14 |
|
8 |
108,107,865 |
108,109,801 |
RGD:8554872 |
G |
Stra6 |
signaling receptor and transporter of retinol STRA6 |
|
8 |
62,925,364 |
62,944,438 |
RGD:8554872 |
G |
Sulf1 |
sulfatase 1 |
|
5 |
5,999,520 |
6,186,901 |
RGD:8554872 |
G |
Tshz2 |
teashirt zinc finger homeobox 2 |
|
3 |
166,469,752 |
166,748,558 |
RGD:8554872 |
G |
Vax2 |
ventral anterior homeobox 2 |
|
4 |
115,388,839 |
115,412,515 |
RGD:8554872 |
G |
Vsx2 |
visual system homeobox 2 |
|
6 |
108,285,031 |
108,308,588 |
RGD:8554872 |
G |
Wnt7a |
Wnt family member 7A |
|
4 |
122,994,425 |
123,040,609 |
RGD:8554872 |
|
G |
Vax1 |
ventral anterior homeobox 1 |
|
1 |
280,334,897 |
280,338,813 |
RGD:7240710 RGD:8554872 |
|
G |
Rarb |
retinoic acid receptor, beta |
|
15 |
9,915,223 |
10,262,599 |
RGD:7240710 RGD:8554872 |
|
G |
Hmgb3 |
high mobility group box 3 |
|
17 |
36,690,190 |
36,694,329 |
RGD:7240710 |
|
G |
Bcor |
BCL6 co-repressor |
|
X |
11,570,155 |
11,692,022 |
RGD:7240710 RGD:8554872 RGD:11554173 |
|
G |
Six6 |
SIX homeobox 6 |
|
6 |
95,816,749 |
95,821,729 |
RGD:11554173 |
G |
Sox2 |
SRY-box transcription factor 2 |
|
2 |
121,165,137 |
121,167,545 |
RGD:7240710 RGD:8554872 |
|
G |
Naa10 |
N(alpha)-acetyltransferase 10, NatA catalytic subunit |
|
X |
156,863,655 |
156,868,950 |
RGD:8554872 |
|
G |
Otx2 |
orthodenticle homeobox 2 |
|
15 |
25,500,037 |
25,511,619 |
RGD:8554872 RGD:7240710 |
G |
Wnt7b |
Wnt family member 7B |
|
7 |
126,423,418 |
126,465,724 |
RGD:8554872 |
|
G |
Bmp4 |
bone morphogenetic protein 4 |
|
15 |
20,776,060 |
20,791,013 |
RGD:7240710 RGD:8554872 |
|
G |
Cox7b |
cytochrome c oxidase subunit 7B |
|
X |
77,065,427 |
77,071,676 |
RGD:11554173 |
G |
Hccs |
holocytochrome c synthase |
|
X |
26,294,028 |
26,303,461 |
RGD:7240710 RGD:8554872 |
G |
Ndufb11 |
NADH:ubiquinone oxidoreductase subunit B11 |
|
X |
1,787,266 |
1,789,524 |
RGD:11554173 RGD:8554872 |
|
G |
Lrba |
LPS responsive beige-like anchor protein |
|
2 |
185,590,983 |
186,110,491 |
RGD:8554872 |
G |
Mab21l2 |
mab-21 like 2 |
|
2 |
185,849,749 |
185,852,833 |
RGD:8554872 RGD:7240710 |
|
G |
Myrf |
myelin regulatory factor |
|
1 |
226,260,558 |
226,292,650 |
RGD:8554872 |
|
G |
C1qtnf5 |
C1q and TNF related 5 |
|
8 |
48,443,515 |
48,445,639 |
RGD:8554872 |
G |
Mfrp |
membrane frizzled-related protein |
|
8 |
48,437,720 |
48,443,421 |
RGD:7240710 RGD:8554872 |
|
G |
Tmem98 |
transmembrane protein 98 |
|
10 |
68,173,380 |
68,184,289 |
RGD:7240710 RGD:8554872 |
|
G |
Yap1 |
yes-associated protein 1 |
|
8 |
6,133,014 |
6,204,240 |
RGD:7240710 RGD:8554872 |
Term paths to the root
Path 1 |
disease |
15603 |
 |
sensory system disease |
4697 |
 |
eye and adnexa disease |
2259 |
 |
eye disease |
2259 |
 |
microphthalmia |
91 |
 |
Adams Nance Syndrome |
0 |
 |
Arhinia, Choanal Atresia, and Microphthalmia |
1 |
 |
Aughton Syndrome |
0 |
 |
Behrens Baumann Dust Syndrome |
0 |
 |
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS |
1 |
 |
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia |
1 |
 |
Duker Weiss Siber syndrome |
0 |
 |
Frontonasal Dysplasia 3 |
1 |
 |
GOMBO Syndrome |
0 |
 |
Ghose Sachdev Kumar Syndrome |
0 |
 |
HEART AND BRAIN MALFORMATION SYNDROME |
1 |
 |
Hittner Hirsch Kreh Syndrome |
0 |
 |
Holoprosencephaly 10 |
0 |
 |
Isolated Microphthalmia with Cataract 1 |
0 |
 |
Isolated Microphthalmia with Cataract 2 |
1 |
 |
Isolated Microphthalmia with Cataract 3 |
1 |
 |
Isolated Microphthalmia with Cataract 4 |
0 |
 |
Isolated Microphthalmia with Coloboma + |
7 |
 |
Isolated Microphthalmia with Corectopia |
0 |
 |
Kaplowitz Bodurtha syndrome |
0 |
 |
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME |
2 |
 |
Macrosomia with Lethal Microphthalmia |
0 |
 |
Matthew-Wood syndrome |
3 |
 |
Microcephaly Microphthalmos Blindness |
0 |
 |
Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism |
1 |
 |
Microcornea Corectopia Macular Hypoplasia |
0 |
 |
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus |
1 |
 |
Microgastria Limb Reduction Defect |
0 |
 |
Microphthalmia Associated with Colobomatous Cyst |
0 |
 |
Microphthalmia and Mental Deficiency |
0 |
 |
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies |
0 |
 |
Microphthalmia with Hyperopia, Retinal Degeneration, Macrophakia, and Dental Anomalies |
0 |
 |
Microphthalmia, Cataracts, and Iris Abnormalities |
2 |
 |
Microphthalmia, Syndromic 1 |
41 |
 |
Microphthalmia, Syndromic 10 |
0 |
 |
Microphthalmia, Syndromic 11 |
1 |
 |
Microphthalmia, Syndromic 12 |
1 |
 |
Microphthalmia, Syndromic 13 |
1 |
 |
Microphthalmia, Syndromic 2 |
1 |
 |
Microphthalmia, Syndromic 3 |
2 |
 |
Microphthalmia, Syndromic 4 |
1 |
 |
Microphthalmia, Syndromic 5 |
2 |
 |
Microphthalmia, Syndromic 6 |
1 |
 |
Microphthalmia, Syndromic 7 |
3 |
 |
Nanophthalmos 1 |
1 |
 |
Nanophthalmos 2 |
2 |
 |
Nanophthalmos 3 |
0 |
 |
Nanophthalmos 4 |
1 |
 |
Oculodentoosseous Dysplasia Recessive |
0 |
 |
Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria |
0 |
 |
Thomas Jewett Raines Syndrome |
0 |
 |
cataract 40 |
1 |
 |
isolated microphthalmia 1 |
1 |
 |
isolated microphthalmia 2 |
1 |
 |
isolated microphthalmia 3 |
1 |
 |
isolated microphthalmia 4 |
1 |
 |
isolated microphthalmia 5 |
2 |
 |
isolated microphthalmia 6 |
4 |
 |
isolated microphthalmia 7 |
1 |
 |
isolated microphthalmia 8 |
1 |
 |
uveal coloboma-cleft lip and palate-intellectual disability |
1 |
 |
Path 2 |
disease |
15603 |
 |
disease of anatomical entity |
14934 |
 |
nervous system disease |
10239 |
 |
sensory system disease |
4697 |
 |
eye and adnexa disease |
2259 |
 |
eye disease |
2259 |
 |
Eye Abnormalities |
280 |
 |
microphthalmia |
91 |
 |
Adams Nance Syndrome |
0 |
 |
Arhinia, Choanal Atresia, and Microphthalmia |
1 |
 |
Aughton Syndrome |
0 |
 |
Behrens Baumann Dust Syndrome |
0 |
 |
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS |
1 |
 |
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia |
1 |
 |
Duker Weiss Siber syndrome |
0 |
 |
Frontonasal Dysplasia 3 |
1 |
 |
GOMBO Syndrome |
0 |
 |
Ghose Sachdev Kumar Syndrome |
0 |
 |
HEART AND BRAIN MALFORMATION SYNDROME |
1 |
 |
Hittner Hirsch Kreh Syndrome |
0 |
 |
Holoprosencephaly 10 |
0 |
 |
Isolated Microphthalmia with Cataract 1 |
0 |
 |
Isolated Microphthalmia with Cataract 2 |
1 |
 |
Isolated Microphthalmia with Cataract 3 |
1 |
 |
Isolated Microphthalmia with Cataract 4 |
0 |
 |
Isolated Microphthalmia with Coloboma + |
7 |
 |
Isolated Microphthalmia with Corectopia |
0 |
 |
Kaplowitz Bodurtha syndrome |
0 |
 |
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME |
2 |
 |
Macrosomia with Lethal Microphthalmia |
0 |
 |
Matthew-Wood syndrome |
3 |
 |
Microcephaly Microphthalmos Blindness |
0 |
 |
Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism |
1 |
 |
Microcornea Corectopia Macular Hypoplasia |
0 |
 |
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus |
1 |
 |
Microgastria Limb Reduction Defect |
0 |
 |
Microphthalmia Associated with Colobomatous Cyst |
0 |
 |
Microphthalmia and Mental Deficiency |
0 |
 |
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies |
0 |
 |
Microphthalmia with Hyperopia, Retinal Degeneration, Macrophakia, and Dental Anomalies |
0 |
 |
Microphthalmia, Cataracts, and Iris Abnormalities |
2 |
 |
Microphthalmia, Syndromic 1 |
41 |
 |
Microphthalmia, Syndromic 10 |
0 |
 |
Microphthalmia, Syndromic 11 |
1 |
 |
Microphthalmia, Syndromic 12 |
1 |
 |
Microphthalmia, Syndromic 13 |
1 |
 |
Microphthalmia, Syndromic 2 |
1 |
 |
Microphthalmia, Syndromic 3 |
2 |
 |
Microphthalmia, Syndromic 4 |
1 |
 |
Microphthalmia, Syndromic 5 |
2 |
 |
Microphthalmia, Syndromic 6 |
1 |
 |
Microphthalmia, Syndromic 7 |
3 |
 |
Nanophthalmos 1 |
1 |
 |
Nanophthalmos 2 |
2 |
 |
Nanophthalmos 3 |
0 |
 |
Nanophthalmos 4 |
1 |
 |
Oculodentoosseous Dysplasia Recessive |
0 |
 |
Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria |
0 |
 |
Thomas Jewett Raines Syndrome |
0 |
 |
cataract 40 |
1 |
 |
isolated microphthalmia 1 |
1 |
 |
isolated microphthalmia 2 |
1 |
 |
isolated microphthalmia 3 |
1 |
 |
isolated microphthalmia 4 |
1 |
 |
isolated microphthalmia 5 |
2 |
 |
isolated microphthalmia 6 |
4 |
 |
isolated microphthalmia 7 |
1 |
 |
isolated microphthalmia 8 |
1 |
 |
uveal coloboma-cleft lip and palate-intellectual disability |
1 |
 |
| |
|