Gene Summary

Name:
bone morphogenetic protein 4
Synonyms:
Bmp2b,  Bmp2b-1,  Bmp-4,  Bmp2b1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal heart morphology Bmp4tm1b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal forebrain development Bmp4tm1b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal retina inner nuclear layer morphology Bmp4tm1b(EUCOMM)Hmgu HET   Early adult 1.65×10-05
decreased total retina thickness Bmp4tm1b(EUCOMM)Hmgu HET   Early adult 2.73×10-05
eyelids fail to open Bmp4tm1b(EUCOMM)Hmgu HET Early adult 2.23×10-06
increased cornea thickness Bmp4tm1b(EUCOMM)Hmgu HET Early adult 7.82×10-05
abnormal allantois morphology Bmp4tm1b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal retina outer nuclear layer morphology Bmp4tm1b(EUCOMM)Hmgu HET   Early adult 6.93×10-11
abnormal eye anterior chamber depth Bmp4tm1b(EUCOMM)Hmgu HET Early adult 4.29×10-06
embryonic lethality prior to tooth bud stage Bmp4tm1b(EUCOMM)Hmgu HOM   E12.5 0.00
decreased anxiety-related response Bmp4tm1b(EUCOMM)Hmgu HET Early adult 8.28×10-08
abnormal embryo size Bmp4tm1b(EUCOMM)Hmgu HOM E9.5 0.00
hyperactivity Bmp4tm1b(EUCOMM)Hmgu HET Early adult 5.64×10-16
preweaning lethality, complete penetrance Bmp4tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
microphthalmia Bmp4tm1b(EUCOMM)Hmgu HET E12.5 0.00
abnormal optic disk morphology Bmp4tm1b(EUCOMM)Hmgu HET Early adult 5.03×10-13
abnormal embryo turning Bmp4tm1b(EUCOMM)Hmgu HOM E9.5 0.00
embryonic growth retardation Bmp4tm1b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal iris morphology Bmp4tm1b(EUCOMM)Hmgu HET Early adult 4.90×10-08
abnormal midbrain development Bmp4tm1b(EUCOMM)Hmgu HOM E9.5 0.00
increased grip strength Bmp4tm1b(EUCOMM)Hmgu HET   Early adult 3.00×10-05
abnormal hindbrain development Bmp4tm1b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal embryo development Bmp4tm1b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal neural tube closure Bmp4tm1b(EUCOMM)Hmgu HOM E9.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Mammary gland  Wholemount images heterozygote 50% (1 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  Wholemount images heterozygote 100% (2 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Peyer's patch  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote Ambiguous
Vas deferens  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 100% (1 of 1)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Heart atrium N/A heterozygote Ambiguous
Axial skeleton N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Cranium N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 100% (2 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Outer ear N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Femur pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forearm N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote 100% (2 of 2)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Head mesenchyme N/A heterozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Heart ventricle N/A heterozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Humerus pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Inner ear N/A heterozygote 100% (2 of 2)
Intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower leg N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Mesonephros of female N/A heterozygote 50% (1 of 2)
Mesonephros of male N/A heterozygote 50% (1 of 2)
Metanephros N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nasal septum N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Notochord N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 100% (2 of 2)
Outflow tract N/A heterozygote Ambiguous
Pancreas N/A heterozygote Ambiguous
N/A heterozygote Ambiguous
Pharynx N/A heterozygote Ambiguous
Radius-ulna pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Rib pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Thoracic vertebral cartilage condensation N/A heterozygote 100% (2 of 2)
Tongue N/A heterozygote Ambiguous
Trachea N/A heterozygote Ambiguous
Trunk mesenchyme N/A heterozygote Ambiguous
Umbilical artery embryonic part N/A heterozygote 100% (2 of 2)
Umbilical vein embryonic part N/A heterozygote 100% (2 of 2)
Upper arm N/A heterozygote 100% (2 of 2)
Upper leg N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)
Vibrissa N/A heterozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.71% (4 of 563)
aorta 0.18% (1 of 567)
bone 0.0%
brain 0.71% (4 of 563)
brainstem 0.36% (2 of 554)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 565)
cecum 3.08% (11 of 357)
cerebellum 0.54% (3 of 557)
cerebral cortex 0.18% (1 of 561)
esophagus 1.54% (6 of 390)
eye 0.0%
gall bladder 0.0%
heart 0.36% (2 of 557)
hippocampus 0.54% (3 of 558)
hypothalamus 0.36% (2 of 559)
kidney 3.76% (21 of 558)
large intestine 1.63% (9 of 553)
liver 0.0%
lower urinary tract 0.18% (1 of 548)
lung 0.36% (2 of 554)
lymph node 0.18% (1 of 559)
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.36% (2 of 563)
oral epithelium 0.0%
ovary 0.18% (1 of 556)
oviduct 0.0%
pancreas 0.91% (5 of 550)
parathyroid gland 0.18% (1 of 543)
peripheral nervous system 0.36% (2 of 559)
peyers patch 0.0%
pituitary gland 0.18% (1 of 546)
prostate gland 1.97% (11 of 558)
skeletal muscle 0.0%
skin 0.18% (1 of 552)
small intestine 1.58% (9 of 570)
spinal cord 0.54% (3 of 558)
spleen 0.53% (3 of 563)
stomach 2.17% (12 of 553)
striatum 0.54% (3 of 556)
testis 1.08% (6 of 557)
thymus 0.18% (1 of 546)
thyroid gland 3.03% (17 of 561)
trachea 0.53% (3 of 562)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vas deferens 3.26% (12 of 368)
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
atrium 2.56% (1 of 39)
axial skeleton 2.17% (1 of 46)
brain 1.05% (4 of 382)
central nervous system ganglion 1.85% (1 of 54)
cranium 2.04% (1 of 49)
dorsal root ganglion 2.08% (1 of 48)
ear 0.25% (1 of 395)
embryo 0.0%
external ear 1.79% (1 of 56)
eye 0.27% (1 of 375)
femur pre-cartilage condensation 0.0%
footplate 0.26% (1 of 378)
forearm 0.0%
forebrain 0.26% (1 of 388)
forelimb 0.28% (1 of 358)
fronto-nasal process 0.0%
gut 2.38% (1 of 42)
handplate 0.0%
head 1.05% (4 of 381)
head mesenchyme 1.92% (1 of 52)
heart 0.0%
heart ventricle 2.17% (1 of 46)
hindbrain 1.37% (5 of 365)
hindlimb 0.26% (1 of 384)
humerus pre-cartilage condensation 2.17% (1 of 46)
inner ear 1.92% (1 of 52)
intestine 2.63% (1 of 38)
liver 0.27% (1 of 377)
lower leg 0.0%
lung 0.27% (1 of 369)
mandibular process 0.0%
maxillary process 0.0%
mesonephros of female 2.5% (1 of 40)
mesonephros of male 2.56% (1 of 39)
metanephros 0.0%
midbrain 0.27% (1 of 365)
nasal septum 2.27% (1 of 44)
nose 1.64% (1 of 61)
notochord 2.13% (1 of 47)
oral cavity 0.26% (1 of 379)
outflow tract 2.38% (1 of 42)
pancreas 2.56% (1 of 39)
pericardium 2.27% (1 of 44)
pharynx 0.0%
radius-ulna pre cartilage condensation 2.13% (1 of 47)
rib pre-cartilage condensation 0.0%
skeleton 1.56% (1 of 64)
skin 0.0%
spinal cord 1.75% (1 of 57)
stomach 2.44% (1 of 41)
tail 0.27% (1 of 370)
tail somite group 0.27% (1 of 368)
thoracic vertebral cartilage condensation 2.44% (1 of 41)
tongue 2.13% (1 of 47)
trachea 0.0%
trunk mesenchyme 0.0%
umbilical artery embryonic part 2.22% (1 of 45)
umbilical vein embryonic part 2.17% (1 of 46)
upper arm 0.43% (1 of 232)
upper leg 0.42% (1 of 238)
urinary system 2.13% (1 of 47)
vibrissa 1.82% (1 of 55)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Wholemount

18 Images

Embryo LacZ

LacZ images wholemount

4 Images

Eye Morphology

VIP of right fundus

9 Images

Eye Morphology

VIP of left eye

9 Images

Eye Morphology

VIP of right eye

9 Images

Eye Morphology

VIP of left fundus

9 Images

Human diseases caused by Bmp4 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Bmp4 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Bmp4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Cataract 35
Cataract OMIM:609376
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Cataract 36
Cataract OMIM:613887
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 38
Developmental cataract OMIM:614691
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... OMIM:600791
Renal Caliceal Diverticuli-Deafness Syndrome
Hydronephrosis, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of... ORPHA:2838
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cataract 44
Developmental cataract OMIM:616509
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Microphthalmia, Buphthalmos OMIM:269400
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Glaucoma, Cataract, Phakodonesis, Lens subluxation, I... OMIM:177650
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... OMIM:143400
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Congenital Primary Megaureter
Nephrolithiasis, Abnormal penis morphology, Hydronephrosis, Abnormality of the upper urinary trac... ORPHA:617
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Cochlear aplasia... OMIM:619274
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Ureter, Cancer Of
Neoplasm of the ureter OMIM:191600
Dysmyelination With Jaundice
Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Glaucoma, Ectopia lentis ORPHA:2084
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Acropectoral Syndrome
Partial duplication of thumb phalanx, Triphalangeal thumb, Preaxial polydactyly, Pectus excavatum... OMIM:605967
Syndactyly Type 2
Symphalangism affecting the phalanges of the hand, Mesoaxial polydactyly, Postaxial foot polydact... ORPHA:93403
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Anophthalmia, Microphthalmia, Microcoria, Iris coloboma OMIM:616428
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Microcornea, Glaucoma, And Absent Frontal Sinuses
Microcornea, Glaucoma OMIM:156700
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Supernumerary ribs, Dextrocardia, Micrognathia, Microphthalmia, Vertebral fusion, V... OMIM:221950
Vesicoureteral Reflux 3
Hydronephrosis, Vesicoureteral reflux, Hydroureter OMIM:613674
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Duplication of phalanx of ... OMIM:174500
Synpolydactyly 1
4-5 toe syndactyly, 3-4 finger syndactyly, 6 metacarpals, Postaxial foot polydactyly, Finger synd... OMIM:186000
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Hematuria, Optic atrophy, Posterior embryotoxon, Sensorineural hearing im... ORPHA:1473
Aniridia 3
Cataract OMIM:617142
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Sensorineural hearing impairment, Cataract, Ret... OMIM:310600
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly, Abnormal thorax morphology ORPHA:85203
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Trichomegaly
Cataract OMIM:190330
Brachydactyly, Type C
Short 3rd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, Pseudoepiphysis o... OMIM:113100
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Anterior Segment Dysgenesis 3
Glaucoma, Posterior embryotoxon, Peters anomaly, Abnormal iris vasculature, Ectopia pupillae, Rie... OMIM:601631
Renal Dysplasia
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... ORPHA:93108
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cataract, Retinal detachment, Cystoid mac... ORPHA:179
Urofacial Syndrome 1
Hydronephrosis, Enuresis, Urethral obstruction, Recurrent urinary tract infections, Hydroureter, ... OMIM:236730
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... OMIM:616002
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2487
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Brachydactyly, Polydactyly OMIM:617405
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Morning glory anomaly, Corneal opacity, Remnants of the hyaloid vascular ... OMIM:120200
Glaucoma 3, Primary Congenital, A
Late onset congenital glaucoma, Buphthalmos OMIM:231300
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia OMIM:236110
Atrial Septal Defect 2
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect OMIM:607941
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, EEG abnormality, Corneal opacity, Optic nerve hypoplasia, Peripheral vitr... ORPHA:137902
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Metaphyseal spurs, Coloboma, Narrow greater sciatic notch, Brachydactyly, Bowin... ORPHA:85167
Glaucoma 3, Primary Infantile, B
Primary congenital glaucoma OMIM:600975
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Abnormality of the epididymis, Genu varum, Metaphyseal irregularity, Short ribs, Delayed pubic bo... OMIM:613330
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Cataract, Retinal detachment, Microphthalmia, Macular atrophy, Retinal dy... OMIM:212550
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly OMIM:174200
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal sacrum morphology, Cervical C2/C3 vertebral fusion,... ORPHA:2345
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Chorioretinal dysplasia, Abnormality of retinal pigmentation, Cataract, Retinal detachment, Micro... OMIM:251270
Trisomy 13
Abnormal morphology of female internal genitalia, Hydronephrosis, Cryptorchidism, Anophthalmia, C... ORPHA:3378
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral dysgenesis, Ureteral agenesis OMIM:274265
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Retinal detachment, Astigmatism, Lens subluxation, Mosaic ... OMIM:309300
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Hypogonadotropic hypogonadism, Hypertonia, Primary amenorrhea, Contracture of the proximal interp... ORPHA:293967
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Neovascular Glaucoma
Iris neovascularization, Retinal vein occlusion, Retinal vascular proliferation, Abnormal anterio... ORPHA:94058
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Brachydactyly, Clinodactyly, Enamel hypoplasia, Sandal gap, Cataract, Astigmatism, 3-4 toe syndac... OMIM:618727
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Hyperechogenic kidneys, Renal insufficiency, Vesicourete... OMIM:601331
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Sprengel anomaly, Ventricular septal defe... OMIM:214300
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Horseshoe kidney, Hydronephrosis, Multicystic kidney dysplasia, Renal dysplasia, ... OMIM:617805
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Hypoplasia of the fovea, Cataract, Optic n... OMIM:106210
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, O... OMIM:617319
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Uveitis, Phthisis bulbi, Persistent pupillary membrane, Glaucoma, Micro... OMIM:221900
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Cataract, Conductive hearing impairment, Sensorineural heari... ORPHA:791
Caudal Duplication
Myelomeningocele, Ureteral duplication, Abnormal penis morphology, Spina bifida, Renal hypoplasia... ORPHA:1756
Bardet-Biedl Syndrome 10
Renal cyst, Abnormality of the kidney, Renal insufficiency OMIM:615987
Retinitis Pigmentosa 57
Rod-cone dystrophy, Cystoid macular edema, Optic disc pallor, Attenuation of retinal blood vessels OMIM:613582
Diaphanospondylodysostosis
Missing ribs, Absent or minimally ossified vertebral bodies, Short neck, Short thorax, Myelomenin... ORPHA:66637
Coats Disease
Abnormal macular morphology, Abnormal anterior chamber morphology, Cataract, Retinal detachment, ... ORPHA:190
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Beta 2-microglobulinuria, Proteinuria, Renal hypo... OMIM:611555
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Patent ductus arteriosus, Hypoplasia of penis, Abnormality of the upper urinary tract, Hydrourete... ORPHA:2547
Microphthalmia, Syndromic 3
Hypogonadotropic hypogonadism, Anophthalmia, Spastic tetraplegia, Anterior pituitary hypoplasia, ... OMIM:206900
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cryptorchidism, Cataract, Short thumb, Abnormal antihelix morphology, Hea... OMIM:274205
Leber Congenital Amaurosis 1
Eye poking, Optic disc drusen, Fundus atrophy, Sensorineural hearing impairment, Cataract, Pigmen... OMIM:204000
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Nephrolithiasis, Hydroureter OMIM:617219
Glaucoma 1, Open Angle, A
Abnormal iris vasculature, Glaucoma OMIM:137750
Cataract 7
Developmental cataract OMIM:115660
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Autosomal Dominant Optic Atrophy And Cataract
Anterior subcapsular cataract, Anterior cortical cataract, Abnormal thumb morphology, Resting tre... ORPHA:67036
Tetralogy Of Fallot And Glaucoma
Developmental glaucoma OMIM:187501
Urofacial Syndrome 2
Hydronephrosis, Enuresis, Urinary urgency, Recurrent urinary tract infections, Renal insufficienc... OMIM:615112
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Missing ribs, Short thorax, Myelomeningocele, Dextrocardia, Situs inversus total... OMIM:613686
Cofs Syndrome
Camptodactyly of finger, Sensorineural hearing impairment, Abnormality of retinal pigmentation, C... ORPHA:1466
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract, Miosis OMIM:156850
Thoracic Dysostosis, Isolated
Short ribs, Bell-shaped thorax, Pectus excavatum OMIM:187750
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Thymic Aplasia With Fetal Death
Renal agenesis, Ureteral agenesis OMIM:274210
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Sensorineural hearing impairment, Cataract, Corn... ORPHA:90654
Gombo Syndrome
Brachydactyly, Clinodactyly, Microphthalmia, Abnormal heart morphology, Radial deviation of finger OMIM:233270
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... OMIM:604229
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Acrocapitofemoral Dysplasia
Cupped ribs, Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarp... OMIM:607778
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Wagner Vitreoretinopathy
Vitreoretinopathy, Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Cataract, Per... OMIM:143200
Leber Congenital Amaurosis 2
Eye poking, Absent foveal reflex, Fundus atrophy, Cataract, Pigmentary retinopathy, Optic disc pa... OMIM:204100
Papillorenal Syndrome
Renal cyst, Stage 5 chronic kidney disease, Horseshoe kidney, Nephrolithiasis, Renal malrotation,... OMIM:120330
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Bardet-Biedl Syndrome 6
Renal cyst, Hypospadias OMIM:605231
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Retinal detachment, Cerulean cataract, Macular hypopl... OMIM:610202
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Sensorineural hearing impairment,... ORPHA:290
Insulinomatosis And Diabetes Mellitus
Developmental cataract, Developmental glaucoma OMIM:147630
Donnai-Barrow Syndrome
Low-set ears, Hypoplasia of the iris, Proteinuria, Sensorineural hearing impairment, Cataract, Re... OMIM:222448
Nanophthalmos 4
Microphthalmia OMIM:615972
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract, Hearing impairment, Infertility OMIM:300719
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria, Glaucoma, Miosis OMIM:156600
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Subcapsular cataract, Dysmetria, Intention tremor, Sensorineural hearing impairment, Ataxia, Decr... OMIM:612674
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Sclerocornea, Microcornea, Cataract, Rhizomelia, Microphthalmia, Coloboma, Ectopia ... OMIM:615877
Polydactyly, Preaxial I
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... OMIM:174400
Thoracomelic Dysplasia
Short ribs, Bell-shaped thorax OMIM:273740
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal agenesis, Ectopic kidney, Bifid ureter, Horseshoe kidney, Decrea... OMIM:617641
Polydactyly, Preaxial Iv
Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, 3-4 finger syndactyly, Dy... OMIM:174700
Microspherophakia-Metaphyseal Dysplasia
Irregular epiphyses, Retinal detachment, Lens subluxation, Metaphyseal dysplasia, Lens coloboma, ... OMIM:157151
Bone Dysplasia, Lethal, Holmgren Type
Short ribs, Narrow chest, Bell-shaped thorax OMIM:211120
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion OMIM:613702
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Autosomal Recessive Stickler Syndrome
Vitreoretinopathy, Abnormality of epiphysis morphology, Sensorineural hearing impairment, Catarac... ORPHA:250984
Ventriculomegaly With Defects Of The Radius And Kidney
Renal agenesis, Ectopic kidney, Horseshoe kidney, Ureteral duplication OMIM:602200
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Microcornea, Astigmatism, Corneal opacity, Catara... OMIM:152950
Santos Syndrome
Brachydactyly, Preaxial polydactyly, Oligodactyly, Metatarsus adductus, Polydactyly, Postaxial po... OMIM:613005
Bardet-Biedl Syndrome 16
Renal agenesis, Renal cyst, Abnormality of the kidney, Renal dysplasia, Renal insufficiency OMIM:615993
Anterior Segment Dysgenesis 6
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... OMIM:617315
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Atypical scarring of skin, Syndactyly, Abnormal thorax morphology, ... ORPHA:294975
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Microcornea, Cataract, Micrognathia, Microphthalmia, Optic disc pallor, Macular atro... OMIM:616171
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Nance-Horan Syndrome
Short metacarpal, Microcornea, Cataract, Retinal detachment, Supernumerary tooth, Microphthalmia,... ORPHA:627
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Hammertoe, 2-3 toe syndactyly, Ectopia lentis, Microcornea, Cataract, ... ORPHA:2712
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Missing ribs, Short thorax, Lateral clavicle hook... ORPHA:1801
Walker-Warburg Syndrome
Anophthalmia, Chorioretinal dysplasia, Low-set ears, Optic atrophy, Abnormality of the optic nerv... ORPHA:899
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Irregular epiphyses, Flattened epiphysis, Aplasia/hypoplasia involving bones of the extremities, ... ORPHA:1856
Stickler Syndrome, Type Ii
Abnormal vitreous humor morphology, Sensorineural hearing impairment, Cataract, Retinal detachmen... OMIM:604841
Metatropic Dysplasia
Cupped ribs, Flared humeral metaphysis, Abnormal metaphyseal vascular invasion, Flared femoral me... OMIM:156530
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Abnormality of extrapyramidal motor function, Optic atrophy, Hearing... OMIM:165300
Prune Belly Syndrome
Patent ductus arteriosus, Hydronephrosis, Congenital posterior urethral valve, Hydroureter, Ureth... OMIM:100100
Wagr Syndrome
Hearing abnormality, Cryptorchidism, Cataract, Micrognathia, Aplasia/Hypoplasia of the iris, Disp... ORPHA:893
Thoracomelic Dysplasia
Abnormality of pelvic girdle bone morphology, Short ribs, Abnormality of fibula morphology, Diaph... ORPHA:1803
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Renal cyst OMIM:618270
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormality of the ureter, Kyphosis, Short neck, Hyperlordosis, Micrognathia, Abnormal rib morpho... ORPHA:2522
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Broad hallux, Hallux varus, Syndactyly OMIM:234280
Nephronophthisis 20
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Renal insufficiency OMIM:617271
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Cataract, Retinal detachment, Posterior vitreous detachment, Chorior... OMIM:616468
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Anophthalmia, Finger syndactyly, Postaxial foot polydactyly, Sclerocornea... ORPHA:139471
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Cataract, Abnormality of the optic disc, Keratoconus, Hemipl... ORPHA:65
Knobloch Syndrome 1
Occipital meningocele, Band keratopathy, Vitreoretinopathy, Developmental cataract, Bifid ureter,... OMIM:267750
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Subcapsular cataract, Abnormality of the ear, Polycystic ovaries, Broad palm, Secondary amenorrhe... OMIM:268020
Osteoporosis-Pseudoglioma Syndrome
Abnormal vitreous humor morphology, Exudative vitreoretinopathy, Abnormal lower limb bone morphol... ORPHA:2788
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Diabetes mellitus, Preaxial foot polydactyly OMIM:601759
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Fetal megacystis, Hydroureter OMIM:249210
Diabetic Embryopathy
Ureteral duplication, Micropenis, Hydronephrosis, Spinal dysraphism, Renal hypoplasia/aplasia ORPHA:1926
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal hypoplasia, Chronic kidney disease, Tubulointerstitial fibrosis, Renal tubular... OMIM:613092
Cataract 42
Developmental cataract, Glaucoma OMIM:115900
Dwarfism With Stiff Joints And Ocular Abnormalities
Delayed ossification of carpal bones, Cataract, Retinal detachment, Short phalanx of finger, Lowe... OMIM:127200
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Cystoid macular edema, Cortical cataract, Hyperautofluorescen... OMIM:618613
Bresek Syndrome
Low-set ears, Cryptorchidism, Renal hypoplasia, Optic nerve hypoplasia, Aganglionic megacolon, Mi... ORPHA:85284
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Astigmatism, Retinal detachment, Abnormality of macular pigmentation, Optic... OMIM:300476
Galactosemia Iv
Cataract OMIM:618881
Orofaciodigital Syndrome Xviii
Brachydactyly, Cervical ribs, Single transverse palmar crease, Sandal gap, Preaxial polydactyly, ... OMIM:617927
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Retinal detachment, Death in childhood, Microphthalmia, Coloboma OMIM:613153
Meier-Gorlin Syndrome 8
Renal hypoplasia OMIM:617564
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Chronic kidney disease, Patent ductus arteriosus OMIM:617661
Morm Syndrome
Cataract, Hyperactivity, Aggressive behavior, Retinal atrophy, Retinal dystrophy ORPHA:75858
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Spina bifida occulta, Hydronephrosis, Myelomeningocele, Ureteral atresia OMIM:183802
Bardet-Biedl Syndrome 11
Hypogonadism, Polydactyly OMIM:615988
Cockayne Syndrome B
Developmental cataract, Proteinuria, Cryptorchidism, Abnormality of visual evoked potentials, Pig... OMIM:133540
Prune Belly Syndrome
Abnormality of the ureter, Patent ductus arteriosus, Renal insufficiency, Multicystic kidney dysp... ORPHA:2970
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal cyst, Renal hypoplasia, Hydranencephaly, Ureteral agenesis, Renal dysplasia OMIM:236500
Bardet-Biedl Syndrome 5
Brachydactyly, Micropenis, Polydactyly, External genital hypoplasia, Hypogonadism, Syndactyly OMIM:615983
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea OMIM:613703
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Dystonia, Proteinuria, Micrognathia, Hand clenching, Opacification o... OMIM:251300
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber, Ocular hypertension OMIM:618880
Syndactyly, Type Iv
6 metacarpals, 2-3 toe syndactyly, Triphalangeal thumb, Supernumerary metacarpal bones, Polydacty... OMIM:186200
Oculoauricular Syndrome
Developmental cataract, Morning glory anomaly, Retinal detachment, Ocular anterior segment dysgen... OMIM:612109
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Preaxial polydactyly, Delayed puberty, Hypospadias, Hypogonadism ORPHA:141333
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Peripapillary atrophy, Astigmatism, Retinal detachment, Retin... OMIM:616188
Aniridia 2
Cataract, Aniridia OMIM:617141
Uveal Melanoma
Zonular cataract, Iris melanoma, Mydriasis, Inferior lens subluxation, Ciliary body melanoma ORPHA:39044
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Leber Congenital Amaurosis 4
Optic disc pallor, Cone/cone-rod dystrophy, Macular atrophy, Keratoconus, Attenuation of retinal ... OMIM:604393
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Patent ductus arteriosus, Bilateral renal agenesis, Ureteral atresia OMIM:618845
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Brachydactyly, Short long bone, Postaxial polydactyly, Short ribs, Lateral clavicle hook, Narrow ... OMIM:615503
Thanatophoric Dysplasia, Type Ii
Brachydactyly, Metaphyseal irregularity, Short greater sciatic notch, Short ribs, Wide-cupped cos... OMIM:187601
Caudal Regression Syndrome
Renal agenesis, Ectopic kidney, Abnormality of the ureter, Ureteral duplication, Renal insufficie... ORPHA:3027
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Galactosialidosis
Cherry red spot of the macula, Corneal opacity, Hearing impairment ORPHA:351
Achondrogenesis Type 2
Abnormal vitreous humor morphology, Delayed proximal femoral epiphyseal ossification, Delayed pub... ORPHA:93296
Norrie Disease
Abnormal vitreous humor morphology, EEG abnormality, Motor stereotypy, Erectile dysfunction, Cryp... ORPHA:649
Stickler Syndrome Type 1
Abnormal vitreous humor morphology, Abnormality of epiphysis morphology, Sensorineural hearing im... ORPHA:90653
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Upper limb asymmetry, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Clinodactyly of the 5t... ORPHA:2141
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Adult-Onset Foveomacular Vitelliform Dystrophy
Vitelliform-like macular lesions, Choroideremia, Retinal nonattachment, Iris hypopigmentation ORPHA:99000
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617610
Focal Dermal Hypoplasia
Upper limb asymmetry, Hydronephrosis, Multicystic kidney dysplasia, Coarse metaphyseal trabecular... ORPHA:2092
Thauvin-Robinet-Faivre Syndrome
Renal cyst, Bifid ureter, Renal malrotation, Renal dysplasia, Nephroblastoma OMIM:617107
Poland Syndrome
Short ribs, Unilateral brachydactyly, Sprengel anomaly, Hypoplasia of deltoid muscle, Unilateral ... OMIM:173800
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Axial Spondylometaphyseal Dysplasia
Cupped ribs, Acromesomelia, Abnormal ilium morphology, Delayed ossification of carpal bones, Apla... ORPHA:168549
Posterior Polymorphous Corneal Dystrophy
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... ORPHA:98973
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Cor pulmonale, Hypertension, Right ventricular hypertrophy OMIM:268500
Spondylo-Ocular Syndrome
Low-set ears, Cataract, Retinal detachment, Aplasia/Hypoplasia of the lens, Microphthalmia, Abnor... ORPHA:85194
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Abnormality of epiphysis morphology, Rhizomelia, Abnormal rib morpholog... ORPHA:93267
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Abnormality of blood circulation, Ventricular septal defect, Hy... ORPHA:860
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Donnai-Barrow Syndrome
Proteinuria, Sensorineural hearing impairment, Retinal detachment, Bicornuate uterus, Abnormality... ORPHA:2143
Nathalie Syndrome
Cataract ORPHA:2663
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Short ribs, Irregular chondrocostal junctions, Hypoplastic iliac wing, Bell-shap... OMIM:187760
Cat-Eye Syndrome
Chorioretinal coloboma, Hydronephrosis, Microphthalmia, Abnormal localization of kidney, Renal hy... ORPHA:195
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Microcornea, Cataract, Coloboma, Aniridia, Abnormality of the corneal li... ORPHA:2334
Spondylocostal Dysostosis 5
Missing ribs, Short neck, Supernumerary ribs, Posterior rib fusion, Scoliosis, Low back pain, Ver... OMIM:122600
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Vertebral hypoplasia, Short neck, Short femoral neck, Short ribs, Joint laxity, Narro... OMIM:602557
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Brachydactyly, Clinodactyly, Ocular anterior segment dysgenesis, Peters anomaly, Microphthalmia, ... OMIM:610023
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Ectopia pupillae, Corneal dystrophy OMIM:612868
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Calcaneovalgus deformity, Nephrolithiasis, Primary congenital glaucoma, Abnormality of the palmar... ORPHA:521445
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Short ribs, Lateral clavicle hook, Narrow chest, Hypoplasia of th... OMIM:617895
Pierson Syndrome
Diffuse mesangial sclerosis, Uveal ectropion, Hypoplasia of the ciliary body, Retinal hemorrhage,... OMIM:609049
Distal Monosomy 6P
Anterior synechiae of the anterior chamber, Abnormal anterior chamber morphology, Short palm, Low... ORPHA:96125
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Hyperechogenic kidneys OMIM:617914
Persistent Hyperplastic Primary Vitreous
Shallow anterior chamber, Developmental cataract, Phthisis bulbi, Persistent pupillary membrane, ... ORPHA:91495
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Developmental glaucoma OMIM:206750
14Q22Q23 Microdeletion Syndrome
Toe syndactyly, Cupped ear, Anophthalmia, Small scrotum, Short 5th metacarpal, Finger syndactyly,... ORPHA:264200
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Renal cyst OMIM:228940
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Flattened epiphysis, Coxa valga, Hypopigmentation of the fundus, Cataract, Retina... ORPHA:163649
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis, Irregular menstruation, Cryptorchidism, Broad palm, Blue irides, Mandi... OMIM:101800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Cataract, Retinal detachment, Optic nerve hypoplasia OMIM:615181
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Short long bone, Cryptorchidism, Thoracic dysplasia, Lateral clav... OMIM:615633
Cenani-Lenz Syndactyly Syndrome
Renal agenesis, Renal hypoplasia OMIM:212780
Fibrochondrogenesis 2
Hypoplastic ischia, Hypoplastic pubic bone, Metaphyseal widening, Short ribs, Micrognathia, Metap... OMIM:614524
Intellectual Developmental Disorder, Autosomal Dominant 33
Chorioretinal degeneration, Hyperactivity OMIM:616311
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Short neck, Back pain, Vertebral fusion, Abnormality of the odontoid process, Ky... OMIM:277300
Hanac Syndrome
Multiple renal cysts, Hematuria, Renal insufficiency ORPHA:73229
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Scoliosis, Short middle phalanx of finger, Fused cervical vertebrae, ... ORPHA:1436
Femoral-Facial Syndrome
Abnormal sacrum morphology, Long penis, Micrognathia, Abnormal rib morphology, Radioulnar synosto... ORPHA:1988
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation, Retinal detachment OMIM:157150
Fanconi Anemia, Complementation Group I
Absent thumb, Short neck, Patent foramen ovale, Horseshoe kidney, Atrial septal defect, Renal hyp... OMIM:609053
Bardet-Biedl Syndrome 12
Hypogonadism, Polydactyly OMIM:615989
Duane Retraction Syndrome
Central heterochromia, Micrognathia, Hypoplastic iris stroma, Brachydactyly, Absent radius, Micro... ORPHA:233
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Increased pulmonary vascular resistance, Pulmonary artery vasocon... OMIM:178600
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Subretinal fluid, Microphthalmia, Retinal fold, Exudati... ORPHA:209956
Schneckenbecken Dysplasia
Brachydactyly, Advanced ossification of carpal bones, Metaphyseal irregularity, Anterior rib cupp... OMIM:269250
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Megalocornea-Intellectual Disability Syndrome
Genu varum, Abnormal anterior chamber morphology, EEG abnormality, Metatarsus valgus, Iridodonesi... ORPHA:2479
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Renal dysplasia, Renal insufficiency, Vesicourete... ORPHA:1475
Gyrate Atrophy Of Choroid And Retina
Subcapsular cataract, Chorioretinal hyperpigmentation, Abnormal macular morphology, Cataract, Cho... ORPHA:414
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bladder exstrophy, Epispadias OMIM:600057
Cataract 47
Microcornea, Cataract OMIM:612018
Knobloch Syndrome
Occipital encephalocele, Bifid ureter, Vesicoureteral reflux, Patent ductus arteriosus ORPHA:1571
Blepharoptosis, Myopia, And Ectopia Lentis
Increased axial length of the globe, Ectopia lentis OMIM:110150
Congenital Muscular Dystrophy With Cerebellar Involvement
Abnormal pyramidal sign, Cataract, Retinal detachment, Optic nerve hypoplasia, Microphthalmia, Co... ORPHA:370959
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Cataract 15, Multiple Types
Developmental cataract, Cataract, Cortical cataract, Nuclear cataract, Lamellar cataract OMIM:615274
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Anophthalmia, Microphthalmia, Bilateral microphthalmos, Iris coloboma OMIM:611638
Retinitis Pigmentosa 36
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Multicystic kidney dysplasia, Displacement of the ureth... ORPHA:2973
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Widening of cervical spinal ca... OMIM:606842
Renal Hypoplasia
Unilateral renal agenesis, Abnormal renal tubule morphology, Abnormality of the ureter, Decreased... ORPHA:93101
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Chondrodysplasia-Disorder Of Sex Development Syndrome
Chorioretinal coloboma, Abnormality of pelvic girdle bone morphology, Hypoplasia of the iris, Sho... ORPHA:1422
Heart Defects-Limb Shortening Syndrome
Accelerated skeletal maturation, Kyphosis, Abnormal form of the vertebral bodies, Abnormal tricus... ORPHA:1354
Nivelon-Nivelon-Mabille Syndrome
Brachydactyly, Hypoplasia of the iris, Short metacarpal, Short phalanx of finger, Male pseudoherm... OMIM:600092
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Cervical C2/C3 vertebral fusion, Short neck, Abnormality of the kidney... OMIM:118100
Split-Hand/Foot Malformation 3
Renal hypoplasia OMIM:246560
Exudative Vitreoretinopathy 4
Subcapsular cataract, Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal e... OMIM:601813
Syndactyly-Polydactyly-Earlobe Syndrome
Broad toe, 1-2 toe complete cutaneous syndactyly, Bifid distal phalanx of toe, Preaxial hand poly... OMIM:186350
Pulmonary Hypertension, Primary, 5
Pulmonary arterial hypertension, Right ventricular hypertrophy, Syncope, Angina pectoris, Right v... OMIM:265400
Microphthalmia, Isolated, With Coloboma 9
Low-set ears, Sclerocornea, Microcornea, Retinal detachment, Ocular anterior segment dysgenesis, ... OMIM:615145
Spastic Ataxia-Corneal Dystrophy Syndrome
Developmental cataract, Corneal dystrophy, Ataxia, Hemiplegia/hemiparesis, Spastic ataxia, Optic ... ORPHA:2572
Wolfram-Like Syndrome, Autosomal Dominant
Anxiety, Depression, Optic atrophy OMIM:614296
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Advanced tarsal ossification, Short ribs, Squared iliac bo... OMIM:215045
Micro Syndrome
Hypoplastic labia minora, Optic atrophy, Cryptorchidism, Abnormality of retinal pigmentation, Mic... ORPHA:2510
X-Linked Intellectual Disability, Siderius Type
Cryptorchidism, Preaxial hand polydactyly, Large hands, Decreased testicular size ORPHA:85287
Warburg Micro Syndrome 1
Developmental cataract, Low-set ears, Cryptorchidism, Microcornea, Micrognathia, External genital... OMIM:600118
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Short Syndrome
Brachydactyly, Abnormal anterior chamber morphology, Short palm, Hypoplasia of the iris, Posterio... ORPHA:3163
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormally prominent line of Schwalbe, Coxa valga, Sensorineural hearing impairment, Hypoplasia o... OMIM:109120
Microphthalmia, Lenz Type
Chorioretinal coloboma, Finger syndactyly, Delayed eruption of teeth, Renal hypoplasia/aplasia, C... ORPHA:568
Microphthalmia, Isolated 6
Microphthalmia, Microcornea, Retinal fold, Ocular hypertension OMIM:613517
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Hypospadias, Hypoplasia of penis, Renal hypoplasia/aplasia ORPHA:1046
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Tetralogy of Fallot, Cervical ribs, Horseshoe kidney, Phocomelia, Absent radius, Axia... ORPHA:3320
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Bifid ureter, Vesicoureteral reflux, Ureteral duplication OMIM:601347
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Wolfram Syndrome 1
Hydroureter, Hydronephrosis, Neurogenic bladder OMIM:222300
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Nephronophthisis 13
Stage 5 chronic kidney disease, Pancreatic cysts, Renal hypoplasia, Hepatic cysts, Nephronophthis... OMIM:614377
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Scoliosis, Short middle phalanx of finger, Fused cervical vertebrae, Tho... OMIM:309620
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Spastic gait, Cryptorchidism, Cataract, Corneal opacity, Optic nerve hypoplasia, 3-Methylglutacon... ORPHA:496790
Mucolipidosis Iv
Retinal degeneration, Dystonia, Spastic tetraplegia, Corneal opacity, Opacification of the cornea... OMIM:252650
Microphthalmia, Syndromic 5
Anophthalmia, Micropenis, Microcornea, Cataract, Optic nerve hypoplasia, Cryptorchidism, Micropht... OMIM:610125
Meckel Syndrome 12
Renal agenesis, Renal hypoplasia, Ureteral hypoplasia OMIM:616258
Brittle Cornea Syndrome
Corneal scarring, Corneal dystrophy, Keratoglobus, Abnormality of epiphysis morphology, Conductiv... ORPHA:90354
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Frontometaphyseal Dysplasia 1
Increased density of long bone diaphyses, Partial fusion of tarsals, Elbow flexion contracture, C... OMIM:305620
Thoracopelvic Dysostosis
Short ribs OMIM:187770
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hydronephrosis, Duplicated collecting system OMIM:617093
Macular Dystrophy With Central Cone Involvement
Bull's eye maculopathy, Optic disc pallor, Macular dystrophy OMIM:616170
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Optic disc pallor, Ataxia, Cerulean cataract OMIM:616732
Axenfeld-Rieger Syndrome, Type 3
Posterior embryotoxon, Sensorineural hearing impairment, Ectopia pupillae, Hypoplasia of the iris OMIM:602482
Pallister-Hall-Like Syndrome
Micropenis, Short ribs, Anterior hypopituitarism, Micrognathia, Micromelia, Postaxial hand polyda... OMIM:241800
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Polycoria, Tetraparesis, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism... OMIM:175780
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Brachydactyly, Short ribs, Polydactyly, Short long bone, Narrow chest OMIM:613819
Hinman Syndrome
Hydronephrosis, Enuresis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral... ORPHA:84085
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Verheij Syndrome
Renal agenesis, Renal hypoplasia, Renal cyst