Select Entries from OMIM -- Online Mendelian Inheritance in Man

Select Entries from OMIM --Online Mendelian Inheritance in Man

92 entries found, searching for "coloboma"

#120330 RENAL-COLOBOMA SYNDROME; ONCR
243910 JOUBERT SYNDROME WITH BILATERAL CHORIORETINAL COLOBOMA
*167730 PALPEBRAL COLOBOMA-LIPOMA SYNDROME
*120200 COLOBOMA OF IRIS, CHOROID AND RETINA; COI
214800 CHOANAL ATRESIA, POSTERIOR; PCA
243310 IRIS COLOBOMA WITH PTOSIS, HYPERTELORISM, AND MENTAL RETARDATION
120400 COLOBOMA OF MACULA WITH TYPE B BRACHYDACTYLY
*601794 COLOBOMA-OBESITY-HYPOGENITALISM-MENTAL RETARDATION SYNDROME
235730 HIRSCHSPRUNG DISEASE, MICROCEPHALY, AND IRIS COLOBOMA
*120300 COLOBOMA OF MACULA
216820 COLOBOMA, OCULAR
120433 COLOBOMA, UVEAL, WITH CLEFT LIP AND PALATE AND MENTAL RETARDATION
216800 COLOBOMA OF MACULA AND SKELETAL ANOMALIES
216360 COACH SYNDROME
218340 CRANIOFACIAL DYSMORPHISM WITH OCULAR COLOBOMA, ABSENT CORPUS CALLOSUM, AND AORTIC DILATATION
120430 COLOBOMA OF OPTIC NERVE
274205 THUMB, HYPOPLASTIC, WITH CHOROID COLOBOMA, POORLY DEVELOPED ANTIHELIX, AND DEAFNESS
107550 AORTIC ARCH INTERRUPTION, FACIAL PALSY, AND RETINAL COLOBOMA
203000 FRONTONASAL DYSPLASIA WITH ALAR CLEFTS
603463 HYPOSPADIAS, HYPERTELORISM, UPPER LID COLOBOMA, AND MIXED-TYPE HEARING LOSS
248190 MACULAR COLOBOMA, BILATERAL, WITH HYPERCALCIURIA
*167409 PAIRED BOX GENE 2; PAX2
#115470 CAT EYE SYNDROME; CES
*213300 JOUBERT SYNDROME 1; JBTS1
210350 BIEMOND SYNDROME II
*305600 FOCAL DERMAL HYPOPLASIA; DHOF
#113000 BRACHYDACTYLY, TYPE B1; BDB1
102490 ACRORENOOCULAR SYNDROME
*251500 MICROPHTHALMIA AND MENTAL DEFICIENCY
#180500 RIEGER SYNDROME, TYPE 1; RIEG1
#180849 RUBINSTEIN SYNDROME
#136900 FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY; SFD
#146150 HYPOMELANOSIS OF ITO; HMI
*154500 TREACHER COLLINS-FRANCESCHETTI SYNDROME 1; TCOF1
302905 CHARGE-LIKE SYNDROME, X-LINKED
147250 INCISORS, FUSED
*251600 MICROPHTHALMOS, AUTOSOMAL RECESSIVE
248450 MANITOBA OCULOTRICHOANAL SYNDROME; MOTA
164210 OCULOAURICULOVERTEBRAL DYSPLASIA
*601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
280000 ZUNICH NEUROECTODERMAL SYNDROME
600628 LOOSE ANAGEN HAIR SYNDROME
*229400 FRONTOFACIONASAL DYSOSTOSIS
218650 CRANIOSYNOSTOSIS-MENTAL RETARDATION-CLEFTING SYNDROME
155145 CLEFT, MEDIAN, OF UPPER LIP WITH POLYPS OF FACIAL SKIN AND NASAL MUCOSA
157151 MICROSPHEROPHAKIA-METAPHYSEAL DYSPLASIA
157980 MOMO SYNDROME
#194190 WOLF-HIRSCHHORN SYNDROME; WHS
*180250 RETINOL-BINDING PROTEIN 4; RBP4
165630 ORGANOID NEVUS PHAKOMATOSIS
222448 DIAPHRAGMATIC HERNIA, EXOMPHALOS, ABSENT CORPUS CALLOSUM, HYPERTELORISM, MYOPIA, AND SENSORINEURAL DEAFNESS
165600 ORBITAL MARGIN, HYPOPLASIA OF
244300 KAPUR-TORIELLO SYNDROME
*145410 HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS
*274270 DIHYDROPYRIMIDINE DEHYDROGENASE; DPYD
*236670 WALKER-WARBURG SYNDROME
*602229 SRY-BOX 10; SOX10
#109400 BASAL CELL NEVUS SYNDROME; BCNS
601707 CRANIOFACIAL MALFORMATIONS, ASYMMETRIC, WITH POLYSYNDACTYLY AND ABNORMAL SKIN AND GUT DEVELOPMENT
#601706 YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME
*106210 PAIRED BOX GENE 6; PAX6
248390 MANDIBULOFACIAL DYSOSTOSIS, TREACHER COLLINS TYPE, AUTOSOMAL RECESSIVE
601427 ANTERIOR CHAMBER CLEAVAGE DISORDER, CEREBELLAR HYPOPLASIA, HYPOTHYROIDISM, AND TRACHEAL STENOSIS
601359 SEBACEOUS NEVUS SYNDROME AND HEMIMEGALENCEPHALY
249599 MENTAL RETARDATION SYNDROME, BELGIAN TYPE
*249620 MENTAL RETARDATION, CONGENITAL HEART DISEASE, BLEPHAROPHIMOSIS, BLEPHAROPTOSIS, AND HYPOPLASTIC TEETH
*309800 MICROPHTHALMIA OR ANOPHTHALMOS, WITH ASSOCIATED ANOMALIES; MAA
600092 CHONDRODYSPLASIA-PSEUDOHERMAPHRODITISM SYNDROME
600122 MALE PSEUDOHERMAPHRODITISM/MENTAL RETARDATION SYNDROME, VERLOES TYPE
*113620 BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATE NASOLACRIMAL DUCT, AND PREMATURE AGING
*249000 MECKEL SYNDROME, TYPE 1; MKS1
*209900 BARDET-BIEDL SYNDROME, TYPE 2; BBS2
163200 NEVUS SEBACEUS OF JADASSOHN
*116150 CATARACT-MICROCORNEA SYNDROME
201170 ACROFACIAL DYSOSTOSIS SYNDROME OF RODRIGUEZ
193000 VESICOURETERAL REFLUX; VUR
*236100 HOLOPROSENCEPHALY 1, ALOBAR; HPE1
*309801 MICROPHTHALMIA WITH LINEAR SKIN DEFECTS; MLS
*241310 HYPOMANDIBULAR FACIOCRANIAL DYSOSTOSIS
302380 CATEL-MANZKE SYNDROME
600330 SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME
184705 STEINFELD SYNDROME
164180 OCULOCEREBROCUTANEOUS SYNDROME
*147950 KALLMANN SYNDROME 2; KAL2
248400 MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL DEFICIENCY
*220210 DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT
227290 FACIOOCULOACOUSTICORENAL SYNDROME
#142945 HOLOPROSENCEPHALY 3; HPE3
277720 WHISTLING FACE SYNDROME, RECESSIVE FORM
602499 MACROPHTHALMIA, COLOBOMATOUS, WITH MICROCORNEA
*132900 ERDHEIM CYSTIC MEDIAL NECROSIS OF AORTA
*603714 SINE OCULIS HOMEO BOX, DROSOPHILA, HOMOLOG OF, 3; SIX3