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Gene: Ahsg MGI:107189

Gene Summary

Name:

alpha-2-HS-glycoprotein

Synonyms:

fetuin-A

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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	Allele	Zyg	Life Stage	P Value
increased bone mineral density	Ahsg^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.25×10^-07
abnormal auditory brainstem response	Ahsg^{tm1.1(KOMP)Vlcg}	HOM	Early adult	4.94×10^-06
iris synechia	Ahsg^{tm1.1(KOMP)Vlcg}	HOM	Early adult	9.07×10^-05
short tibia	Ahsg^{tm1.1(KOMP)Vlcg}	HOM	Early adult	4.26×10^-17
corneal opacity	Ahsg^{tm1.1(KOMP)Vlcg}	HOM	Early adult	8.42×10^-06

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
Adrenal gland	N/A	heterozygote	33.33% (1 of 3)
Aorta	N/A	heterozygote	33.33% (1 of 3)
Blood	N/A	heterozygote	0.0% (0 of 3)
Bone marrow	N/A	heterozygote	0.0% (0 of 3)
Brain	N/A	heterozygote	33.33% (1 of 3)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 3)
Cartilage tissue	N/A	heterozygote	Not available
Cecum	N/A	heterozygote	33.33% (1 of 3)
Cerebellum	N/A	heterozygote	33.33% (1 of 3)
Cerebral cortex	N/A	heterozygote	Not available
Chest bone	N/A	heterozygote	33.33% (1 of 3)
Colon	N/A	heterozygote	33.33% (1 of 3)
Diaphragm	N/A	heterozygote	66.67% (2 of 3)
Duodenum	N/A	heterozygote	33.33% (1 of 3)
Epididymis	N/A	heterozygote	33.33% (1 of 3)
Esophagus	N/A	heterozygote	33.33% (1 of 3)
Eye	N/A	heterozygote	33.33% (1 of 3)
Gall bladder	N/A	heterozygote	Not available
Gonadal fat pad	N/A	heterozygote	33.33% (1 of 3)
Harderian gland	N/A	heterozygote	33.33% (1 of 3)
Heart	N/A	heterozygote	Not available
Hindlimb	N/A	heterozygote	Not available
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Ileum	N/A	heterozygote	100% (3 of 3)
Jejunum	N/A	heterozygote	66.67% (2 of 3)
Kidney	N/A	heterozygote	66.67% (2 of 3)
Large intestine	N/A	heterozygote	33.33% (1 of 3)
Liver	N/A	heterozygote	100% (3 of 3)
Lower urinary tract	N/A	heterozygote	Not available
Lung	N/A	heterozygote	33.33% (1 of 3)
Lymph node	N/A	heterozygote	Not available
Mammary gland	N/A	heterozygote	0.0% (0 of 3)
Mesenteric adipose tissue	N/A	heterozygote	33.33% (1 of 3)
Mesenteric lymph node	N/A	heterozygote	33.33% (1 of 3)
Midbrain	N/A	heterozygote	33.33% (1 of 3)
Olfactory lobe	N/A	heterozygote	33.33% (1 of 3)
Ovary	N/A	heterozygote	33.33% (1 of 3)
Oviduct	N/A	heterozygote	66.67% (2 of 3)
Pancreas	N/A	heterozygote	33.33% (1 of 3)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 3)
Parotid gland	N/A	heterozygote	0.0% (0 of 3)
Penis	N/A	heterozygote	0.0% (0 of 3)
Peripheral nervous system	N/A	heterozygote	Not available
Peyer's patch	N/A	heterozygote	Not available
Pituitary gland	N/A	heterozygote	33.33% (1 of 3)
Prostate gland	N/A	heterozygote	33.33% (1 of 3)
Quadriceps	N/A	heterozygote	33.33% (1 of 3)
Sciatic nerve	N/A	heterozygote	0.0% (0 of 3)
Skeletal muscle	N/A	heterozygote	Not available
Skin	N/A	heterozygote	33.33% (1 of 3)
Small intestine	N/A	heterozygote	100% (3 of 3)
Spinal cord	N/A	heterozygote	33.33% (1 of 3)
Spleen	N/A	heterozygote	33.33% (1 of 3)
Stomach pyloric region	N/A	heterozygote	Not available
Stomach	N/A	heterozygote	33.33% (1 of 3)
Striatum	N/A	heterozygote	Not available
Sublingual gland	N/A	heterozygote	0.0% (0 of 3)
Submandibular gland	N/A	heterozygote	0.0% (0 of 3)
Testis	N/A	heterozygote	0.0% (0 of 3)
Thymus	N/A	heterozygote	33.33% (1 of 3)
Thyroid gland	N/A	heterozygote	0.0% (0 of 3)
Tongue	N/A	heterozygote	66.67% (2 of 3)
Trachea	N/A	heterozygote	33.33% (1 of 3)
Trigeminal V nerve	N/A	heterozygote	0.0% (0 of 3)
Urinary bladder	N/A	heterozygote	33.33% (1 of 3)
Uterus	N/A	heterozygote	33.33% (1 of 3)
Vagina	N/A	heterozygote	0.0% (0 of 3)
Vas deferens	N/A	heterozygote	33.33% (1 of 3)
Vascular system	N/A	heterozygote	Not available
Vesicular gland	N/A	heterozygote	0.0% (0 of 3)
White adipose tissue	N/A	heterozygote	Not available

No Embryo expression data was found for this gene.

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

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
blood
bone marrow
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cecum	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
chest bone
colon
diaphragm	0.0%
duodenum	0.0%
epididymis	Unavailable
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
gonadal fat pad	0.0%
harderian gland
heart	0.0%
hindlimb	0.0%
hippocampus	0.0%
hypothalamus	0.0%
ileum	0.0%
jejunum
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
mesenteric adipose tissue	0.0%
mesenteric lymph node
midbrain	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
parotid gland	0.0%
penis	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
quadriceps	0.0%
sciatic nerve	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
stomach pyloric region	0.0%
striatum	0.0%
sublingual gland	0.0%
submandibular gland	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
tongue	0.0%
trachea	0.0%
trigeminal v nerve	0.0%
urinary bladder
uterus	0.0%
vagina	0.0%
vas deferens	Unavailable
vascular system	0.0%
vesicular gland	Unavailable
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Hind Leg and Hip

9 Images

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Adult LacZ

LacZ Images Section

24 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Adult LacZ

LacZ Images Wholemount

6 Images

View images

Human diseases caused by Ahsg 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.

Human diseases associated with Ahsg (2 diseases)
Human diseases predicted to be associated with Ahsg (637 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Alopecia-Intellectual Disability Syndrome		Hearing impairment, EEG abnormality, Brachydactyly, Split hand, Flexion contracture, Macrotia	ORPHA:2850
Alopecia-Intellectual Disability Syndrome 1			OMIM:203650

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

Disease	Matching phenotypes	Source
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
Syndactyly Type 4	Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact...	ORPHA:93405
Corneal Dystrophy-Perceptive Deafness Syndrome	Sensorineural hearing impairment, Corneal dystrophy, Corneal opacity	ORPHA:1490
Winchester Syndrome	Carpal osteolysis, Osteolysis involving tarsal bones, Corneal opacity, Generalized osteoporosis, ...	OMIM:277950
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Osteochondrosis Of The Metatarsal Bone	Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Structural fo...	ORPHA:564003
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Mueller-Weiss Syndrome	Tibiofibular diastasis, Equinovarus deformity, Sclerosis of foot bone, Tibial torsion, Positional...	ORPHA:566943
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u...	OMIM:118651
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ...	OMIM:617319
Sclerosteosis	Optic atrophy, Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand,...	ORPHA:3152
Hyperostosis Corticalis Generalisata	Cranial hyperostosis, Abnormal cortical bone morphology, Sensorineural hearing impairment, Genera...	ORPHA:3416
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis, Metaphyseal dysplasia, Dense metaphyseal bands	OMIM:615198
Acromesomelic Dysplasia 2C	Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S...	OMIM:201250
Fibular Hemimelia	Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger...	ORPHA:93323
Osebold-Remondini Syndrome	Mesomelia, Short toe, Short tibia, Carpal synostosis, Type A brachydactyly, Radial deviation of f...	OMIM:112910
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short toe, Micromelia, Short tibia, Aplasia of the middle phalanges o...	ORPHA:2098
Transient Neonatal Diabetes Mellitus	Failure to thrive, Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabet...	ORPHA:99886
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral...	OMIM:166740
Galactosialidosis	Hearing impairment, Corneal opacity	ORPHA:351
Buschke-Ollendorff Syndrome	Lower limb asymmetry, Joint stiffness, Flexion contracture, Osteopoikilosis	OMIM:166700
Peters Anomaly	Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an...	ORPHA:708
Van Buchem Disease	Hearing impairment, Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral ...	OMIM:239100
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen...	OMIM:269400
Anterior Segment Dysgenesis 6	Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova...	OMIM:617315
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp...	OMIM:127300
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density, Pedal edema	ORPHA:75325
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Abnormal cortical bone morphology, Sensorineural hearing impairment, G...	ORPHA:2790
Flynn-Aird Syndrome	Cataract, Progressive sensorineural hearing impairment, Joint stiffness, Increased bone density w...	OMIM:136300
Auditory Neuropathy, Autosomal Dominant 1	Abnormal auditory evoked potentials, Sensorineural hearing impairment	OMIM:609129
Corneal Dystrophy, Groenouw Type I	Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Low-set, posteriorly rotated ears, Abnormal metaphysis mo...	ORPHA:2370
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly	OMIM:246570
Ophthalmomandibulomelic Dysplasia	Mesomelia, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Limitation of joint mobi...	ORPHA:2741
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv...	ORPHA:166119
Corneal Dystrophy, Posterior Polymorphous, 1	Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet...	OMIM:122000
Pupillary Membrane, Persistence Of	Persistent pupillary membrane, Developmental cataract, Megalocornea	OMIM:178900
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the distal phalanges ...	ORPHA:1879
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Corneal Dystrophy And Perceptive Deafness	Opacification of the corneal stroma, Corneal dystrophy, Sensorineural hearing impairment	OMIM:217400
Langer Mesomelic Dysplasia	Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul...	OMIM:249700
Osteopetrosis, Autosomal Recessive 6	Cortical sclerosis of the iliac wing, Erlenmeyer flask deformity of the femurs, Osteopetrosis, De...	OMIM:611497
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:3177
Proprotein Convertase 1/3 Deficiency	Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Decreased circulat...	OMIM:600955
Weill-Marchesani Syndrome 4	Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Joint stiffness, Irido...	OMIM:613195
Lethal Faciocardiomelic Dysplasia	Short 5th finger, Microretrognathia, Short tibia, Sandal gap, Short thumb, Radial club hand, Fibu...	ORPHA:1972
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ...	ORPHA:240
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten...	OMIM:605274
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Abnormal circulating insulin concentration, Large for gestational age, Hypoketotic hypoglycemia, ...	ORPHA:293964
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Acheiropody	Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas...	OMIM:200500
Iridocorneal Endothelial Syndrome	Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi...	ORPHA:64734
Anterior Segment Dysgenesis 5	Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel...	OMIM:604229
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Cataract 21, Multiple Types	Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul...	OMIM:610202
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant...	OMIM:610256
Otopalatodigital Syndrome Type 1	Short distal phalanx of finger, Synostosis of carpal bones, Limitation of joint mobility, Hearing...	ORPHA:90650
Thiel-Behnke Corneal Dystrophy	Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn...	ORPHA:98960
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Optic atrophy, Hearing impairment, Craniosynostosis, Facial palsy, Increased bone mineral density	ORPHA:178377
Brachyolmia Type 1, Hobaek Type	Osteopenia, Short iliac bones, Flattened proximal radial epiphyses, Short long bone, Corneal opac...	OMIM:271530
Ossification Of The Posterior Longitudinal Ligament Of Spine	Increased bone mineral density, Ectopic ossification	OMIM:602475
Lattice Corneal Dystrophy Type I	Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur...	ORPHA:98964
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Hypophosphatemic rickets, Sensorineural hearing impairment, Craniosynostosis, Increased ...	OMIM:241520
Keratitis, Hereditary	Opacification of the corneal stroma, Keratitis	OMIM:148190
Mietens Syndrome	Cataract, Microcornea, Joint stiffness, Avascular necrosis of the capital femoral epiphysis, Tali...	ORPHA:2557
Eiken Syndrome	Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Abnormal fingertip morpholo...	ORPHA:79106
Morquio Syndrome C	Corneal opacity	OMIM:252300
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Corneal Dystrophy, Epithelial Basement Membrane	Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy	OMIM:121820
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ...	ORPHA:1986
Osteopetrosis, Autosomal Dominant 1	Abnormal pelvic girdle bone morphology, Conductive hearing impairment, Thickened cortex of long b...	OMIM:607634
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Limitation of joint mobility, Finger syndac...	ORPHA:3329
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Macular Dystrophy, Corneal	Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy	OMIM:217800
Charcot-Marie-Tooth Disease, Type 4B1	Talipes equinovarus, Abnormal auditory evoked potentials, Decreased motor nerve conduction veloci...	OMIM:601382
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Corneal opacity	ORPHA:2432
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Mucolipidosis Type Iii	Craniofacial hyperostosis, Joint stiffness, Abnormal hip bone morphology, Corneal opacity, Hypopl...	ORPHA:577
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Cataract, Chorioretinal coloboma, Sensorineural hearing impairment, Posterior embr...	ORPHA:1473
Ophthalmomandibulomelic Dysplasia	Radial bowing, Lateral humeral condyle aplasia, Megalocornea, Decreased mobility 3rd-5th fingers,...	OMIM:164900
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal guttata, Corneal stromal edema, Corneal opacity	OMIM:613267
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me...	ORPHA:98973
Mody	Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Hype...	ORPHA:552
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:1067
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Microcornea, Congenital sensorineural hearing impairment, Micrognathia, Clinodactyly of...	OMIM:617306
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract	OMIM:616722
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy	OMIM:271310
Ring Dermoid Of Cornea	Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival...	OMIM:180550
Osteopetrosis, Autosomal Dominant 2	Hip osteoarthritis, Abnormal pelvic girdle bone morphology, Mandibular osteomyelitis, Facial para...	OMIM:166600
Intermediate Osteopetrosis	Erlenmeyer flask deformity of the femurs, Cortical sclerosis, Cranial nerve compression, Osteomye...	ORPHA:210110
Congenital Hereditary Endothelial Dystrophy Type Ii	Abnormal Descemet membrane morphology, Irregular astigmatism, Sensorineural hearing impairment, C...	ORPHA:293603
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Optic atrophy, Craniofacial osteosclerosis, Hearing impairment, Cortic...	OMIM:122860
Hip Dysplasia, Beukes Type	Abnormal epiphysis morphology, Broad femoral neck, Abnormality of the epiphysis of the femoral he...	ORPHA:2114
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Optic atrophy, Iris cyst, Sensorineural hearing impairment	OMIM:620086
Stickler Syndrome Type 2	Sensorineural hearing impairment, Cataract, Corneal opacity	ORPHA:90654
Obesity Due To Melanocortin 4 Receptor Deficiency	Obesity, Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertrigl...	ORPHA:71529
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Generalized osteosclerosis, ...	ORPHA:1423
Cornea Plana 2, Autosomal Recessive	Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th...	OMIM:612447
Coronary Artery Disease, Autosomal Dominant 2	Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance, Hypertriglyceridemia	OMIM:610947
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal limb bone morphology, Limb undergrowth, Abnormal cortica...	ORPHA:2204
Endove Syndrome, Limb-Only Type	Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o...	OMIM:619217
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val...	OMIM:600785
Laurin-Sandrow Syndrome	Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,...	OMIM:135750
Corneal Dystrophy, Reis-Bucklers Type	Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity	OMIM:608470
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Ankle swelling, Carpal osteolysis, Metacarpal osteolysis, Metatarsal osteolysis, Ulna...	OMIM:166300
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact...	ORPHA:2756
Hyperinsulinemic Hypoglycemia, Familial, 2	Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo...	OMIM:601820
Diastrophic Dysplasia	Ulnar deviation of finger, Hypoplastic cervical vertebrae, Hearing impairment, Abnormal epiphysis...	ORPHA:628
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Hearing impairment, Short tibia, Radial club hand, Cutaneous finge...	ORPHA:93322
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ...	OMIM:309300
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short toe, Short tibia, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
X-Linked Endothelial Corneal Dystrophy	Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity	ORPHA:293621
Endosteal Hyperostosis, Autosomal Dominant	Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Hyperostosis, ...	OMIM:144750
Al-Gazali Syndrome	Osteopenia, Broad distal phalanx of finger, Recurrent fractures, Micrognathia, Wrist flexion cont...	OMIM:609465
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,...	OMIM:610021
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Anterior Segment Dysgenesis 3	Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po...	OMIM:601631
Glaucoma, Primary Closed-Angle	Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber	OMIM:618880
Brittle Cornea Syndrome 2	Keratoconus, Corneal perforation, Hearing impairment, Megalocornea, Joint hypermobility, Keratogl...	OMIM:614170
Congenital Primary Aphakia	Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affect...	ORPHA:83461
Melorheostosis	Lower limb asymmetry, Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthr...	ORPHA:2485
Hypertriglyceridemia 1	Hypopituitarism, Glucose intolerance, Hypertriglyceridemia	OMIM:145750
Trichothiodystrophy 6, Nonphotosensitive	Coronal craniosynostosis, Microcornea, Pes cavus, Bilateral sensorineural hearing impairment, Inc...	OMIM:616943
Spondyloepimetaphyseal Dysplasia, Missouri Type	Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened...	ORPHA:93356
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso...	ORPHA:320401
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia...	ORPHA:988
Acrofacial Dysostosis Syndrome Of Rodriguez	Low-set ears, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of...	OMIM:201170
Bilateral Striopallidodentate Calcinosis	Corneal opacity	ORPHA:1980
Corneal Endothelial Dystrophy	Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In...	OMIM:217700
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane...	OMIM:221900
Optic Atrophy 8	Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia...	OMIM:616648
Brachydactyly, Type A1, C	Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib...	OMIM:615072
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Hypoplasia of the odontoid process, Limitation of joint mobility, Finger swe...	ORPHA:93284
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Band keratopathy, Hypoplasia of the iris, Ocular anterior segment dysgenesis, Anterior synechiae ...	OMIM:614195
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Cupped ear, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the u...	OMIM:119100
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Abnormal lower limb bone morphology, Increased susceptibility to fractures, Joint hyp...	ORPHA:2788
Granular Corneal Dystrophy Type Ii	Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t...	ORPHA:98963
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Increased serum leptin, Obesity, Hyperinsulinemia, Hyperlipidemia, Hypertrigl...	OMIM:617885
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Conductive hearing impairment, Abnormal cranial nerve morphology, Sens...	ORPHA:1522
Albers-Schönberg Osteopetrosis	Optic atrophy, Short distal phalanx of finger, Mandibular osteomyelitis, Abnormal epiphysis morph...	ORPHA:53
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type II diabete...	ORPHA:453533
Distal Deletion 6P	Low-set ears, Abnormal epiphysis morphology, Hearing impairment, Hypoplasia of the iris, Ectopia ...	ORPHA:96125
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Cataract, Slender finger, Hemiatrophy of upper limb, Micrognathia, Delayed patellar ossification,...	ORPHA:163649
Deafness, Autosomal Recessive 108	Congenital sensorineural hearing impairment, Iris coloboma	OMIM:617654
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Slc35A2-Cdg	Aplasia/hypoplasia involving bones of the extremities, Osteopenia, Short tibia, Camptodactyly of ...	ORPHA:356961
Brachyolmia Type 1, Toledo Type	Broad tibial metaphyses, Opacification of the corneal stroma, Short femoral neck, Precocious cost...	OMIM:271630
Stuve-Wiedemann Syndrome 1	Low-set ears, Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bon...	OMIM:601559
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Short ribs, Limb undergrowth, Brachydactyly, Short long bon...	OMIM:618961
Bartsocas-Papas Syndrome 2	Axillary pterygium, Low-set ears, Small hand, Popliteal pterygium, Micrognathia, Absent distal ph...	OMIM:619339
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Flexion contracture, EEG abnormality, Developmental cataract, Corneal opacity	OMIM:618815
2Q24 Microdeletion Syndrome	Cataract, Hand clenching, Toe syndactyly, Abnormality iris morphology, Bullet-shaped distal phala...	ORPHA:1617
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy...	OMIM:136800
Axenfeld-Rieger Syndrome, Type 3	Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia of the iris, Sensorineu...	OMIM:602482
Oculoauricular Syndrome	Low-set ears, Cataract, Microcornea, Posterior synechiae of the anterior chamber, Absent earlobe,...	OMIM:612109
Familial Tumoral Calcinosis	Calcification of muscles	ORPHA:53715
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Chondrodysplasia, Blomstrand Type	Micromelia, Flared metaphysis, Micrognathia, Short ribs, Generalized osteosclerosis, Advanced oss...	OMIM:215045
Paget Disease Of Bone 3	Patchy osteosclerosis, Fractures of the long bones, Hearing impairment, Osteolysis	OMIM:167250
Alpha-Mannosidosis	Synostosis of joints, Cataract, Craniofacial hyperostosis, Abnormal helix morphology, Hearing imp...	ORPHA:61
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm...	ORPHA:3344
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Atresia of the external auditory canal, Shortening of all phalanges of fingers, Limb undergrowth,...	OMIM:601356
Keratoendotheliitis Fugax Hereditaria	Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis	OMIM:148200
Limbal Stem Cell Deficiency	Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea...	ORPHA:171673
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormally prominent line of Schwalbe, Abnormal auditory evoked potentials, Rieger anomaly, Senso...	OMIM:109120
Erythrokeratodermia Variabilis	Cataract, Hearing impairment, Patchy palmoplantar hyperkeratosis, Protruding ear, Brachydactyly, ...	ORPHA:317
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pr...	OMIM:112250
Osteogenesis Imperfecta, Type Xiii	Hearing impairment, Wide distal femoral metaphysis, Recurrent fractures, Femoral bowing, Wide pub...	OMIM:614856
Osteopetrosis, Autosomal Recessive 9	Cortical sclerosis, Pathologic fracture, Papilledema, Osteopetrosis, Increased bone mineral density	OMIM:620366
Gómez-López-Hernández Syndrome	Low-set ears, Corneal opacity	ORPHA:1532
Orofaciodigital Syndrome Iv	Low-set ears, Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial po...	OMIM:258860
Hurler-Scheie Syndrome	Sensorineural hearing impairment, Abnormal nerve conduction velocity, Limitation of joint mobilit...	ORPHA:93476
Dysosteosclerosis	Craniofacial hyperostosis, Optic atrophy, Coarse metaphyseal trabecularization, Hearing impairmen...	ORPHA:1782
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi...	OMIM:259600
Granular Corneal Dystrophy Type I	Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr...	ORPHA:98962
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Ectopia pupillae, Recurrent otitis media, Hypoplastic inferior ilia, Short metacarpal, Optic disc...	OMIM:608940
Sialidosis Type 2	Hearing impairment, Corneal opacity, Osteoporosis, Flexion contracture, Pedal edema	ORPHA:87876
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma...	OMIM:228900
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Multiple Epiphyseal Dysplasia, Lowry Type	Delayed epiphyseal ossification, Epiphyseal dysplasia, Rhizomelia, Small epiphyses, Micrognathia,...	ORPHA:166016
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Dysosteosclerosis	Hearing impairment, Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Absent fronta...	OMIM:224300
Osteopetrosis, Autosomal Recessive 1	Optic atrophy, Facial paralysis, Hearing impairment, Flared metaphysis, Pathologic fracture, Oste...	OMIM:259700
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Diaphyseal dysplasia, Increased bone mineral density, Hyperostosis cranialis interna	OMIM:231095
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism	OMIM:307500
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Abnormal epiphysis morphology, Metaphyseal spurs, ...	ORPHA:85167
Spondyloepiphyseal Dysplasia, Maroteaux Type	Genu valgum, Pes planus, Small joint hypermobilty, Generalized osteoporosis, Opacification of the...	OMIM:184095
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob...	OMIM:114000
Bent Bone Dysplasia Syndrome 2	Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Fe...	OMIM:620076
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Macular Corneal Dystrophy	Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification...	ORPHA:98969
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of...	ORPHA:98974
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal foot morphology, Short tubular...	ORPHA:85184
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul...	ORPHA:2334
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormal auditory evoked potentials, Astigmatism, Abnormality of visual evoked potentials, Optic ...	OMIM:617523
Microphthalmia With Limb Anomalies	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Postaxial foot polydactyly, Sho...	ORPHA:1106
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Microcephaly-Micromelia Syndrome	Low-set ears, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial syn...	OMIM:251230
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio...	OMIM:177650
Dermochondrocorneal Dystrophy	Anterior cortical cataract, Irregular tarsal ossification, Corneal dystrophy, Subepithelial corne...	OMIM:221800
Osteopetrosis, Autosomal Recessive 4	Optic atrophy, Optic disc pallor, Osteopetrosis, Increased bone mineral density, Facial palsy, Re...	OMIM:611490
Norrie Disease	Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal stroma, Sensorineur...	OMIM:310600
Gnathodiaphyseal Dysplasia	Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, ...	OMIM:166260
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Cysticercosis	Cerebral calcification, Abnormal skeletal muscle morphology, Calcification of muscles	ORPHA:1560
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Pes...	OMIM:601455
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata...	ORPHA:85170
Phacoanaphylactic Uveitis	Anterior chamber flare grade 1+, Posterior uveitis, Hypopyon, Panuveitis, Posterior synechiae of ...	ORPHA:209959
Bilateral Acute Depigmentation Of The Iris	Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ...	ORPHA:69736
Robin Sequence With Cleft Mandible And Limb Anomalies	Low-set ears, Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shorten...	OMIM:268305
Microphthalmia With Brain And Digit Anomalies	Cataract, Microcornea, Postaxial foot polydactyly, Finger syndactyly, Chorioretinal coloboma, Sen...	ORPHA:139471
Epithelial Recurrent Erosion Dystrophy	Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi...	ORPHA:293381
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Equinovarus deformity, Recurrent otitis media, Broad foot, Broad phalanx, Metaphyseal dysplasia, ...	ORPHA:2502
Osteopathia Striata-Cranial Sclerosis Syndrome	Low-set ears, Cataract, High iliac wing, Coarse metaphyseal trabecularization, Conductive hearing...	ORPHA:2780
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Low-set ears, Popliteal pterygium, Patellar hypoplasia, Preaxial foot polydactyly, Mirror image f...	OMIM:119800
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Ankle flexion contracture, Sensorineural hearing impairment, Absent brainstem auditory responses,...	OMIM:617519
Pelvis-Shoulder Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Hypoplastic acetabulae, Optic...	OMIM:169550
Short Syndrome	Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Joint hypermobility, Sensorineur...	ORPHA:3163
X-Linked Hypophosphatemia	Limitation of joint mobility, Genu valgum, Sensorineural hearing impairment, Bowing of the long b...	ORPHA:89936
Traboulsi Syndrome	Cataract, Ectopia lentis, Broad hallux, Phakodonesis, Short finger, Iris atrophy, Joint hypermobi...	OMIM:601552
Mucolipidosis Iv	Optic atrophy, Opacification of the corneal stroma, Corneal opacity	OMIM:252650
Laurin-Sandrow Syndrome	Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Mirror image polydactyly, Preaxi...	ORPHA:2378
Anterior Segment Dysgenesis 1	Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif...	OMIM:107250
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, Microcornea, Sensorineural hearing impairment, Anterior synechiae of the a...	ORPHA:3214
Aniridia 2	Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma	OMIM:617141
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Pseudo-fractures, Lower limb asymmetry, Osteomalacia, Ricket...	ORPHA:289176
Otopalatodigital Syndrome Type 2	Low-set ears, Synostosis of carpal bones, Hearing impairment, Carpal synostosis, Fibular aplasia,...	ORPHA:90652
Corneal Dystrophy, Posterior Amorphous	Iris coloboma, Corneal dystrophy, Ectopia pupillae	OMIM:612868
Bartsocas-Papas Syndrome	Synostosis of joints, Popliteal pterygium, Toe syndactyly, Finger syndactyly, Absent thumb, Micro...	ORPHA:1234
Mucopolysaccharidosis, Type Ivb	Constricted iliac wing, Hypoplasia of the odontoid process, Hearing impairment, Hypoplasia of the...	OMIM:253010
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Toe syndactyly, Shallow acetabular fossae, Hearing impairment, Broad thumb, Hypoplastic iliac win...	OMIM:609945
Atelosteogenesis Type Iii	Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubular bones of the hand, F...	ORPHA:56305
Osteopetrosis, Autosomal Recessive 2	Optic atrophy, Mandibular osteomyelitis, Facial paralysis, Cranial hyperostosis, Cranial nerve co...	OMIM:259710
Omodysplasia 1	Axillary pterygium, Rhizomelia, Popliteal pterygium, Short tibia, Limited knee flexion/extension,...	OMIM:258315
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory...	OMIM:125250
Rutherfurd Syndrome	Opacification of the corneal stroma, Corneal dystrophy	OMIM:180900
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal...	OMIM:613270
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Hearing impairment, Increased bone mineral density, Short humerus, Sensorineural hear...	OMIM:239000
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Micrognathia, Corneal opacity, Craniosynostosis, Developmental glaucoma	ORPHA:1064
Congenital Insensitivity To Pain With Severe Intellectual Disability	Keratitis, Talipes equinovalgus, Osteomyelitis, Micrognathia, Tibial bowing, Congenital bilateral...	ORPHA:453510
Acheiropodia	Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia...	ORPHA:931
Multiple Sulfatase Deficiency	Cataract, Optic atrophy, Broad thumb, Joint stiffness, Abnormality of peripheral nerve conduction...	ORPHA:585
Harel-Yoon Syndrome	Optic atrophy, Talipes equinovalgus, Micrognathia, Developmental cataract, Corneal opacity, Hip d...	OMIM:617183
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Microcornea, Optic atrophy, Myopic astigmatism, Astigmatism, Protruding ear, Chorioreti...	OMIM:152950
Congenital Rubella Syndrome	Cataract, Aplasia/Hypoplasia of the iris, Sensorineural hearing impairment, Corneal opacity, Abno...	ORPHA:290
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Short tibia, Sandal gap, Short humerus, Sensorineural hearing impairment, Short ribs,...	OMIM:607143
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m...	OMIM:225200
Ravine Syndrome	Abnormal auditory evoked potentials	ORPHA:99852
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Pseudohypoparathyroidism Type 1B	Cataract, Increased bone density with cystic changes, Cortical subperiosteal resorption of humera...	ORPHA:94089
Dyschondrosteosis-Nephritis Syndrome	Aplasia/Hypoplasia of the radius, Radial bowing, Micromelia, Ulnar bowing, Corneal opacity	ORPHA:1765
Corneal Dystrophy, Thiel-Behnke Type	Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy	OMIM:602082
Blomstrand Lethal Chondrodysplasia	Synostosis of joints, Cataract, Low-set ears, Rhizomelia, Metaphyseal cupping, Aplastic clavicle,...	ORPHA:50945
Spondyloepimetaphyseal Dysplasia, Missouri Type	Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin...	OMIM:602111
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo...	OMIM:601596
Craniometaphyseal Dysplasia, Autosomal Dominant	Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femurs, Cranial hyperos...	OMIM:123000
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Charcot-Marie-Tooth Disease Type 1B	Decreased nerve conduction velocity, Abnormal pupil morphology, Hearing impairment	ORPHA:101082
Corneal Dystrophy, Posterior Polymorphous, 3	Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae	OMIM:609141
Orofaciodigital Syndrome Ix	Camptodactyly, Hand polydactyly, Toe syndactyly, Short tibia	OMIM:258865
Cutis Laxa, Autosomal Dominant 3	Low-set ears, Osteopenia, Joint hypermobility, Protruding ear, Talipes equinovarus, Adducted thum...	OMIM:616603
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib...	ORPHA:2634
Obesity Due To Sim1 Deficiency	Obesity, Glucose intolerance, Hyperinsulinemia	ORPHA:369873
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal guttata, Corneal degeneration, Corneal dystrophy	OMIM:610158
Scheie Syndrome	Abnormal nerve conduction velocity, Limitation of joint mobility, Joint stiffness, Sensorineural ...	ORPHA:93474
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Intermediate Uveitis	Cataract, Band keratopathy, Posterior synechiae of the anterior chamber, Anterior uveitis	ORPHA:279914
Mucopolysaccharidosis Type 4	Abnormal epiphysis morphology, Hearing impairment, Genu valgum, Abnormal metaphysis morphology, J...	ORPHA:582
Oculomaxillofacial Dysostosis	Camptodactyly of finger, Micrognathia, Brachydactyly, Adducted thumb, Corneal opacity, Abnormalit...	ORPHA:1794
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ...	OMIM:113310
Neovascular Glaucoma	Rubeosis iridis, Uveal ectropion, Conjunctival hyperemia, Corneal stromal edema, Abnormal anterio...	ORPHA:94058
Leukodystrophy, Hypomyelinating, 5	Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct...	OMIM:610532
Oculocerebrocutaneous Syndrome	Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Hearing impairment...	ORPHA:1647
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Low-set ears, Joint contracture of the hand, Toe syndactyly, Shallow...	OMIM:201000
Pycnodysostosis	Coronal craniosynostosis, Small hand, Rhizomelia, Lower limb asymmetry, Acromelia, Short finger, ...	ORPHA:763
Femoral-Facial Syndrome	Low-set ears, Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial f...	ORPHA:1988
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Hypoplasia of the iris, Megalocornea, Micrognathia, Astigmatism, Metatarsus valgus, J...	ORPHA:2479
Idiopathic Panuveitis	Conjunctival hyperemia, Cataract, Choroidal neovascularization, Posterior synechiae of the anteri...	ORPHA:280921
3Q29 Microduplication Syndrome	Low-set ears, Cataract, Toe syndactyly, Hearing impairment, Sandal gap, Aniridia, Camptodactyly o...	ORPHA:251038
Weismann-Netter Syndrome	Fibular bowing, Lateral femoral bowing, Calvarial hyperostosis, Squared iliac bones, Anterior tib...	OMIM:112350
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Recurrent otitis media, Micrognathia, Corneal opacity, Conjunctivitis, Posteriorly rot...	OMIM:602562
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Posterior synechiae of the anterior chamber, Pes valgus, Developmental cataract, F...	OMIM:613154
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Microretrognathia, Short tibia, Unicoronal synostosis, Preaxial polydactyly, Hypoplas...	OMIM:616300
Autosomal Dominant Optic Atrophy Plus Syndrome	Optic atrophy, Absent Achilles reflex, Pes cavus, Sensorineural hearing impairment, Absent brains...	ORPHA:1215
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Low-set, posteriorly rotated ears, Absent radius,...	ORPHA:3320
Camurati-Engelmann Disease	Hearing impairment, Cranial nerve compression, Sclerosis of skull base, Optic nerve compression, ...	OMIM:131300
Kniest Dysplasia	Delayed epiphyseal ossification, Cataract, Rhizomelia, Limitation of joint mobility, Tracheomalac...	OMIM:156550
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hip osteoarthritis, Limitation of joint mobility, Hypoplasia of the capital femoral epiphysis, Hy...	OMIM:313400
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ...	OMIM:609441
Ichthyosis, X-Linked	Opacification of the corneal stroma, Palmoplantar keratoderma	OMIM:308100
Sanjad-Sakati Syndrome	Patchy osteosclerosis, Small hand, Low-set, posteriorly rotated ears, Micrognathia, Astigmatism, ...	ORPHA:2323
Solitary Fibrous Tumor	Hypoinsulinemia, Weight loss, Hypoglycemia, Recurrent hypoglycemia	ORPHA:2126
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Optic atrophy, Positional foot deformity, Micrognathia, Corneal opacity, Hip dysplasia,...	ORPHA:496790
Spondylodysplastic Ehlers-Danlos Syndrome	Low-set ears, Hearing impairment, Megalocornea, Subluxation of the small joints of the hand, Micr...	ORPHA:536471
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Fibular hypoplasia, Ta...	OMIM:227270
Zellweger Syndrome	Cataract, Optic atrophy, Epiphyseal stippling, Micrognathia, Sensorineural hearing impairment, Po...	ORPHA:912
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber	OMIM:251750
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Mydriasis, Undetectable visual evoked potentials, Cranial hyperostosis, Flared met...	OMIM:259720
Chondrodysplasia-Difference Of Sex Development Syndrome	Abnormal pelvic girdle bone morphology, Increased skull ossification, Micromelia, Broad long bone...	ORPHA:1422
Mucolipidosis Type Iv	Genu recurvatum, Palmoplantar keratoderma, EEG abnormality, Corneal opacity	ORPHA:578
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal guttata, Corneal dystrophy	OMIM:615523
Alpha-Mannosidosis, Adult Form	Cataract, Osteopenia, Corneal opacity, Mixed hearing impairment, Optic disc pallor	ORPHA:309288
Pseudohypoparathyroidism Type 1A	Broad 1st metacarpal, Cataract, Broad distal phalanx of the thumb, Band keratopathy, Ectopic ossi...	ORPHA:79443
Tibial Hemimelia	Absent tibia	OMIM:275220
Hereditary Bullous Dystrophy, Macular Type	Tapered finger, Cataract, Short finger, Corneal opacity	ORPHA:1867
Neurotrophic Keratopathy	Abnormal fifth cranial nerve morphology, Corneal perforation, Corneal scarring, Astigmatism, Recu...	ORPHA:137596
Arthrogryposis, Distal, Type 2A	Joint contracture of the hand, Abnormal auditory evoked potentials, Shoulder flexion contracture,...	OMIM:193700
Beemer-Ertbruggen Syndrome	Low-set, posteriorly rotated ears, Increased bone mineral density, Micrognathia	ORPHA:1237
Schnitzler Syndrome	Increased bone mineral density, Arthritis	ORPHA:37748
Microphthalmia/Coloboma 9	Low-set ears, Microcornea, Ocular anterior segment dysgenesis, Sclerocornea, Iris coloboma, Macrotia	OMIM:615145
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Low-set ears, Postaxial foot polydactyly, Hearing impairment, Large earlobe, Talipes equinovalgus...	OMIM:301056
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology, Areflexia of lower limbs, Joint contracture, Hyporeflexia of lower lim...	OMIM:160565
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Postural hypotension with compensatory tachycardia, Osteomyelitis, Corneal scarring, A...	OMIM:256800
Olmsted Syndrome 1	Palmoplantar keratoderma, Autoamputation of digits, Corneal opacity, Flexion contracture, Opacifi...	OMIM:614594
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ...	OMIM:274000
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
8Q21.11 Microdeletion Syndrome	Iris hypopigmentation, Cataract, Low-set ears, Hearing impairment, Finger syndactyly, Camptodacty...	ORPHA:284160
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cataract, Abnormal auditory evoked potentials, Irregular epiphyses, Sensorineural hearing impairm...	OMIM:619260
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Osteomalacia, Trap...	OMIM:307800
Mucolipidosis Type Iii Alpha/Beta	Conductive hearing impairment, Recurrent otitis media, Joint stiffness, Sensorineural hearing imp...	ORPHA:423461
Atopic Keratoconjunctivitis	Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju...	ORPHA:163934
Sympathetic Ophthalmia	Posterior uveitis, Cataract, Anterior chamber cells, Posterior synechiae of the anterior chamber,...	ORPHA:79098
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,...	OMIM:613091
Microphthalmia, Syndromic 16	Sclerocornea	OMIM:611038
Premature Aging Syndrome, Penttinen Type	Short distal phalanx of finger, Slender long bone, Hyperextensibility of the knee, Micrognathia, ...	OMIM:601812
Moebius Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Hearing impairment, Absent hand, Micrognathi...	ORPHA:570
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Hypophosphatemic ricke...	OMIM:300554
Gelatinous Drop-Like Corneal Dystrophy	Conjunctival amyloidosis, Corneal neovascularization, Central opacification of the cornea, Subepi...	ORPHA:98957
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Hearing impairment, Absent paranasal sinuses, Hypoplastic iliac wing, Micro...	OMIM:119600
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Cataract, Limitation of joint mobility, Ocular albinism, Abnormal thumb mo...	ORPHA:2719
Sjogren-Larsson Syndrome	Flexion contracture, Astigmatism, Opacification of the corneal epithelium	OMIM:270200
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Kenny-Caffey Syndrome, Type 2	Abnormality of the medullary cavity of the long bones, Thickened cortex of long bones, Papilledem...	OMIM:127000
Microphthalmia/Coloboma 12	Peters anomaly, Chorioretinal coloboma, Optic disc coloboma, Optic nerve aplasia, Corneal opacity	OMIM:120200
Pseudohypoparathyroidism Type 1C	Short fifth metatarsal, Cataract, Broad distal phalanx of the thumb, Ectopic ossification, Short ...	ORPHA:79444
Craniosynostosis With Fibular Aplasia	Craniosynostosis, Fibular aplasia	OMIM:218550
Orofaciodigital Syndrome Type 2	Polysyndactyly of hallux, Conductive hearing impairment, Finger syndactyly, Short tibia, Complete...	ORPHA:2751
Mohr-Tranebjaerg Syndrome	Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p...	ORPHA:52368
Gorlin-Chaudhry-Moss Syndrome	Coronal craniosynostosis, Short distal phalanx of finger, Conductive hearing impairment, Abnormal...	ORPHA:2095
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Fibular bowing, Femoral bowing, Spar...	OMIM:600081
Sialidosis Type 1	Cataract, Decreased nerve conduction velocity, Sensorineural hearing impairment, EEG abnormality,...	ORPHA:812
Autoimmune Hypoparathyroidism	Conjunctivitis, Cataract, Increased bone mineral density	ORPHA:36913
Schwartz-Jampel Syndrome	Micrognathia, Genu valgum, Hip contracture, Bowing of the long bones, Talipes equinovarus, Pes pl...	ORPHA:800
Abcd Syndrome	Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari...	OMIM:600501
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Low-set ears, Short tibia, Preaxial polydactyly, Micrognathia, Decreased calvarial ossification, ...	OMIM:617925
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Limitation of joint mobility, Dumbbell-shaped femur, Sandal gap, Flared fem...	ORPHA:1427
Hurler Syndrome	Hypoplasia of the odontoid process, Hearing impairment, Cranial hyperostosis, Recurrent otitis me...	OMIM:607014
Mucolipidosis Iii Gamma	Joint stiffness, Genu valgum, Claw hand deformity, Flared iliac wing, Pes planus, Flat capital fe...	OMIM:252605
Dysostosis, Stanescu Type	Abnormal epiphysis morphology, Micromelia, Massively thickened long bone cortices, Bowing of the ...	ORPHA:1798
Mucopolysaccharidosis Type 7	Joint stiffness, Epiphyseal stippling, Abnormal hip bone morphology, Diaphyseal undertubulation, ...	ORPHA:584
Van Den Ende-Gupta Syndrome	Joint contracture of the hand, Hypoplastic scapulae, Long metacarpals, Long hallux, Micrognathia,...	OMIM:600920
Mosaic Trisomy 8	Limitation of joint mobility, Hearing impairment, Deep plantar creases, Camptodactyly of finger, ...	ORPHA:96061
Lowry-Maclean Syndrome	Low-set ears, Osteopenia, Megalocornea, Micrognathia, Corneal opacity, Osteoporosis, Craniosynost...	ORPHA:2409
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Microcornea, Hearing impairment, Protruding ear, Keratoconjunctivitis sicca, Sclerocorn...	ORPHA:1806
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Absent internal auditory canal, Hypoplasia of the cochlea, Profound sensorineural hearing impairm...	OMIM:620469
Saul-Wilson Syndrome	Cataract, Short distal phalanx of finger, Hypoplasia of the odontoid process, Pseudoepiphyses of ...	OMIM:618150
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Hypophosphatemic rickets, Corneal opacity, Abnormal finger morphology, Recurrent frac...	OMIM:163200
Walker-Warburg Syndrome	Low-set ears, Cataract, Microcornea, Optic atrophy, Metatarsus valgus, Chorioretinal dysplasia, P...	ORPHA:899
Familial Dysautonomia	Optic atrophy, Osteolysis, Abnormal pupil morphology, Heterochromia iridis, Orthostatic hypotensi...	ORPHA:1764
Neuhauser Syndrome	Genu recurvatum, Osteopenia, Cupped ear, Hypoplasia of the iris, Megalocornea, Large fleshy ears,...	OMIM:249310
Aniridia 1	Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupilla...	OMIM:106210
Majeed Syndrome	Osteomyelitis, Increased susceptibility to fractures, Synovitis, Increased bone mineral density, ...	ORPHA:77297
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Rheumatoid arthritis, Band keratopathy, Abnormality of the ankle, Joint hypermobility, ...	ORPHA:85410
Microphthalmia With Limb Anomalies	Low-set ears, 2-3 toe cutaneous syndactyly, Capitate-hamate fusion, Toe syndactyly, Postaxial foo...	OMIM:206920
Frontometaphyseal Dysplasia	Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Hearing impairment...	ORPHA:1826
Werner Syndrome	Cataract, Small hand, Joint stiffness, Osteoporosis, Rocker bottom foot, Increased bone mineral d...	ORPHA:902
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Facial palsy, Osteopetrosis	OMIM:615085
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Micrognathia, Small...	ORPHA:96334
Brittle Cornea Syndrome	Conductive hearing impairment, Abnormal epiphysis morphology, Corneal scarring, Increased suscept...	ORPHA:90354
Severe Early-Childhood-Onset Retinal Dystrophy	Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Posterior synechiae of t...	ORPHA:364055
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Corneal opacity	OMIM:613153
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Microcornea, Rhizomelia, Ectopia pupillae, 2-3 toe syndactyly, Pes planus, Recurrent pa...	OMIM:615877
Larsen Syndrome	Conductive hearing impairment, Tracheomalacia, Hearing impairment, Hypoplastic cervical vertebrae...	OMIM:150250
Lenz-Majewski Hyperostotic Dwarfism	Aplastic clavicle, Limitation of joint mobility, Finger syndactyly, Cranial hyperostosis, Facial ...	ORPHA:2658
Scheie Syndrome	Genu valgum, Pes cavus, Corneal opacity	OMIM:607016
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Microretrognathia, Aplasia/Hypoplasia of ...	ORPHA:1788
Tricho-Dento-Osseous Syndrome	Increased bone mineral density, Finger clinodactyly	ORPHA:3352
Kyphomelic Dysplasia	Low-set ears, Limitation of joint mobility, Radial bowing, Micromelia, Flared metaphysis, Pterygi...	OMIM:211350
Fish-Eye Disease	Corneal opacity	ORPHA:79292
Occipital Horn Syndrome	Synostosis of joints, Osteomalacia, Humerus varus, Genu valgum, Pes planus, Abnormal fibula morph...	ORPHA:198
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma, Generalized bone demineralization	OMIM:215250
Mucopolysaccharidosis, Type Vii	Hypoplasia of the odontoid process, Limitation of joint mobility, Hearing impairment, Recurrent o...	OMIM:253220
Focal Dermal Hypoplasia	Low-set ears, Toe syndactyly, Ectopia lentis, Coarse metaphyseal trabecularization, Hearing impai...	ORPHA:2092
Neurodegeneration And Seizures Due To Copper Transport Defect	Talipes equinovarus, Short tibia, Short femur	OMIM:620306
Rodrigues Blindness	Sclerocornea, Microcornea, Protruding ear	OMIM:268320
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Micrognathia, Tibial bowing, Abnormality of the lower limb, Bowing of the long bon...	ORPHA:3035
Paget Disease Of Bone 2, Early-Onset	Bilateral conductive hearing impairment, Fractures of the long bones, Sclerosis of skull base, Fe...	OMIM:602080
Charcot-Marie-Tooth Disease Type 1E	Calf muscle hypoplasia, Peroneal muscle atrophy, Joint contracture of the hand, Equinovarus defor...	ORPHA:90658
Fibrochondrogenesis 1	Low-set ears, Hypoplastic ischia, Joint contracture of the hand, Hypoplastic scapulae, Small hand...	OMIM:228520
Fuchs Heterochromic Iridocyclitis	Cataract, Chorioretinal scar, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, O...	ORPHA:263479
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Cerebrotendinous Xanthomatosis	Osteopenia, Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials,...	ORPHA:909
Desmosterolosis	Low-set ears, Micromelia, Abnormal earlobe morphology, Low-set, posteriorly rotated ears, Large e...	ORPHA:35107
Pycnodysostosis	Aplastic clavicle, Micrognathia, Absent frontal sinuses, Brachydactyly, Narrow iliac wing, Increa...	OMIM:265800
Persistent Hyperplastic Primary Vitreous	Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal...	ORPHA:91495
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma	ORPHA:1643
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Hearing impairment, Joint stiffness, Genu valgum, Opacification of the corn...	ORPHA:583
Chromosome 6Pter-P24 Deletion Syndrome	Low-set ears, Rocker bottom foot, Peters anomaly, Axenfeld anomaly, Joint hypermobility, Sensorin...	OMIM:612582
Eiken Syndrome	Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,...	OMIM:600002
3Mc Syndrome 3	Hearing impairment, Clinodactyly, Preaxial polydactyly, Auricular pit, Radioulnar synostosis, Cor...	OMIM:248340
Gm1-Gangliosidosis, Type Iii	Flared iliac wing, Hypoplastic acetabulae, Opacification of the corneal stroma, Pes cavus	OMIM:230650
Mucopolysaccharidosis, Type Iva	Constricted iliac wing, Hypoplasia of the odontoid process, Hearing impairment, Genu valgum, Join...	OMIM:253000
Mucolipidosis Iii Alpha/Beta	Shallow acetabular fossae, Limitation of joint mobility, Irregular carpal bones, Short ribs, Carp...	OMIM:252600
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Optic atrophy, Erlenmeyer flask deformity of the femurs, Craniofacial osteosclerosis, Increased s...	OMIM:618476
Trichothiodystrophy	Osteopenia, Microcornea, Astigmatism, Multiple joint contractures, Protruding ear, Keratoconjunct...	ORPHA:33364
Congenital Sialidosis Type 2	Low-set ears, Cataract, Optic atrophy, Hearing impairment, Polydactyly, Developmental cataract, C...	ORPHA:93400
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity	ORPHA:281090
Tenorio Syndrome	Hypoinsulinemia, Hypoglycemia	OMIM:616260
Alpha-Mannosidosis, Infantile Form	Cataract, Osteopenia, Bilateral coxa valga, Hypoplastic inferior ilia, Cranial hyperostosis, Tali...	ORPHA:309282
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast...	OMIM:223800
Farber Disease	Short toe, Abnormal foot morphology, Short finger, Arthritis, Corneal opacity, Abnormality of the...	ORPHA:333
Raine Syndrome	Low-set ears, Micromelia, Long hallux, Micrognathia, Protruding ear, Bowing of the long bones, Po...	OMIM:259775
Cousin Syndrome	Low-set ears, Joint contracture of the hand, Hypoplastic scapulae, Hearing impairment, Hypoplasti...	OMIM:260660
Omodysplasia 2	Broad femoral neck, Short 1st metacarpal, Limited elbow flexion, Recurrent otitis media, Rhizomel...	OMIM:164745
Estrogen Resistance	Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc...	OMIM:615363
Multiple Sulfatase Deficiency	Broad thumb, Broad hallux, Hearing impairment, Hypoplastic vertebral bodies, Corneal opacity	OMIM:272200
Nasopalpebral Lipoma-Coloboma Syndrome	Low-set ears, Cataract, Cupped ear, Abnormality of cartilage of external ear, Conjunctival hypere...	ORPHA:2399
Hurler-Scheie Syndrome	Camptodactyly of finger, Joint stiffness, Contracture of the distal interphalangeal joint of the ...	OMIM:607015
Wagro Syndrome	Low-set ears, Cataract, Aniridia, Micrognathia, Corneal opacity	OMIM:612469
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Low-set ears, Patchy osteosclerosis, Small hand, Micrognathia, Short foot, Posteriorly rotated ea...	OMIM:241410
Cockayne Syndrome B	Optic atrophy, Microcornea, Abnormal auditory evoked potentials, Limitation of joint mobility, Sq...	OMIM:133540
Orofaciodigital Syndrome X	Finger aplasia, Coalescence of tarsal bones, Fibular aplasia, Preaxial hand polydactyly	OMIM:165590
Gm1 Gangliosidosis	Low-set ears, Optic atrophy, Coarse metaphyseal trabecularization, Abnormal epiphysis morphology,...	ORPHA:354
Late-Infantile/Juvenile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ...	ORPHA:206443
Juvenile Sialidosis Type 2	Low-set ears, Cataract, Optic atrophy, Hearing impairment, Corneal opacity	ORPHA:93399
Atelosteogenesis, Type I	Low-set ears, Radial bowing, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Aplasia...	OMIM:108720
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Short ribs...	OMIM:263520
Campomelic Dysplasia	Low-set ears, Small abnormally formed scapulae, Hip dislocation, Tracheomalacia, Hearing impairme...	ORPHA:140
Acute Bilirubin Encephalopathy	Conjunctival icterus, Abnormal auditory evoked potentials, Abnormal conjunctiva morphology, Senso...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Conjunctival icterus, Abnormal auditory evoked potentials, Abnormal conjunctiva morphology, Senso...	ORPHA:529808
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Corneal crystals, Rickets	OMIM:219900
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora...	OMIM:300009
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Sclerocornea, 11 pairs of ribs, Iris coloboma, Hearing impairment	ORPHA:77298
Mucopolysaccharidosis Type 1	Optic atrophy, Abnormal epiphysis morphology, Hearing impairment, Joint stiffness, Abnormal hip b...	ORPHA:579
X-Linked Recessive Ocular Albinism	Iris hypopigmentation, Abnormal pupil morphology, Astigmatism, Ocular albinism	ORPHA:54
De Barsy Syndrome	Low-set ears, Cataract, Osteopenia, Congenital hip dislocation, Large earlobe, Talipes calcaneova...	ORPHA:2962
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Cystinosis	Rickets, Corneal opacity	ORPHA:213
Cutis Marmorata Telangiectatica Congenita	Leukocoria, Short lower limbs, Bowing of the legs	OMIM:219250
Insulin-Resistance Syndrome Type B	Postprandial hyperglycemia, Insulin resistance, Glycosuria, Insulin-resistant diabetes mellitus, ...	ORPHA:2298
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Hypoplastic acetabulae, Hearing impairm...	OMIM:253200
Mucopolysaccharidosis Type 3	Cataract, Craniofacial hyperostosis, Optic atrophy, Conductive hearing impairment, Hearing impair...	ORPHA:581
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Joint contracture of the hand, Abnormal helix morphology, Opacification of the corneal ...	OMIM:214110
Oculodentodigital Dysplasia	Toe syndactyly, Hearing impairment, Finger syndactyly, Clinodactyly, Micrognathia, Short hallux, ...	ORPHA:2710
Stromme Syndrome	Low-set ears, Cataract, Microcornea, Peters anomaly, Preaxial polydactyly, Micrognathia, Scleroco...	OMIM:243605
Chime Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, Aplastic clavicle, Abnormal ep...	ORPHA:3474
Chromosome 8Q21.11 Deletion Syndrome	Low-set ears, Cataract, Micrognathia, Sensorineural hearing impairment, Protruding ear, Camptodac...	OMIM:614230
Osteogenesis Imperfecta, Type Viii	Osteopenia, Radial bowing, Slender long bone, Femoral bowing, Tibial bowing, Decreased calvarial ...	OMIM:610915
Tbck-Related Intellectual Disability Syndrome	EEG with generalized epileptiform discharges, Clinodactyly, 11 pairs of ribs, Sensorineural heari...	ORPHA:488632
Leukodystrophy, Hypomyelinating, 13	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Joint contracture	OMIM:616881
Osteogenesis Imperfecta	Hearing impairment, Abnormal tibia morphology, Micrognathia, Genu valgum, Decreased skull ossific...	ORPHA:666
Osteopetrosis, Autosomal Recessive 3	Optic nerve compression, Diaphyseal sclerosis, Osteopetrosis, Cranial hyperostosis	OMIM:259730
Tubulointerstitial Nephritis And Uveitis Syndrome	Posterior uveitis, Cataract, Choroidal neovascularization, Chorioretinal scar, Posterior synechia...	ORPHA:91500
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Pes...	OMIM:609136
Cockayne Syndrome Type 1	Cataract, Optic atrophy, Foot joint contracture, Hearing impairment, Abnormality of peripheral ne...	ORPHA:90321
Lcat Deficiency	Corneal opacity	ORPHA:650
Mosaic Trisomy 1	Low-set ears, Hand clenching, Toe syndactyly, Microretrognathia, Rocker bottom foot, Broad 2nd to...	ORPHA:1692
Poems Syndrome	Sclerosis of foot bone, Sclerosis of hand bone, Sclerosis of skull base, Metaphyseal sclerosis, P...	ORPHA:2905
Acromelic Frontonasal Dysostosis	Low-set ears, Optic nerve hypoplasia, Short tibia, Patellar hypoplasia, Preaxial hand polydactyly...	OMIM:603671
Weill-Marchesani Syndrome 2	Cataract, Microspherophakia, Broad phalanges of the hand, Ectopia lentis, Short finger, Elbow fle...	OMIM:608328
Mosaic Trisomy 9	Low-set ears, Limitation of joint mobility, Deep plantar creases, Finger clinodactyly, Camptodact...	ORPHA:99776
Trisomy 10P	Low-set ears, Abnormal auditory evoked potentials, Short toe, Thumb contracture, Abnormal foot mo...	ORPHA:171929
Hurler Syndrome	Abnormal nerve conduction velocity, Limitation of joint mobility, Hearing impairment, Abnormal ep...	ORPHA:93473
Juvenile Glaucoma	Abnormality iris morphology, Abnormal anterior chamber morphology, Increased cup-to-disc ratio, O...	ORPHA:98977
Mend Syndrome	Low-set ears, Cataract, Abnormal auditory evoked potentials, Broad hallux, Overlapping toe, Micro...	ORPHA:401973
Facial Spasm	Anisocoria	OMIM:134300
Acro-Renal-Mandibular Syndrome	Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Low-set, posteriorly rotated ears, M...	ORPHA:958
Galactosialidosis	Conjunctival telangiectasia, Opacification of the corneal stroma, Hearing impairment	OMIM:256540
Woolly Hair	Cataract, Abnormal pupil morphology	ORPHA:170
Cockayne Syndrome A	Cataract, Optic atrophy, Abnormal auditory evoked potentials, Limitation of joint mobility, Squar...	OMIM:216400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Low-set ears, Cataract, Optic atrophy, Optic nerve hypoplasia, Peters anomaly, Congenital contrac...	OMIM:236670
Incontinentia Pigmenti	Cataract, Keratitis, Finger syndactyly, Deviation of finger, Camptodactyly of finger, Abnormal ha...	ORPHA:464
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity	OMIM:602400
Desmosterolosis	Low-set ears, Joint contracture of the hand, Rhizomelia, Arthrogryposis multiplex congenita, Cupp...	OMIM:602398
Charcot-Marie-Tooth Disease Type 1F	Decreased nerve conduction velocity, Pes cavus, Sensorineural hearing impairment, Distal lower li...	ORPHA:101085
Tyrosinemia Type 2	Palmoplantar keratoderma, Corneal opacity	ORPHA:28378
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Mesomelia-Synostoses Syndrome	Mesomelia, Tarsometatarsal synostosis, Microretrognathia, Hearing impairment, Micromelia, Progres...	OMIM:600383
Duane Retraction Syndrome	Hearing impairment, Chorioretinal coloboma, Micrognathia, Sensorineural hearing impairment, Talip...	ORPHA:233
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Aganglionic megacolon, Abnormal pupil morphology	ORPHA:2151
Yunis-Varon Syndrome	Low-set ears, Hearing impairment, Aplasia of the distal phalanx of the hallux, Micrognathia, Decr...	ORPHA:3472
Hyperoxaluria, Primary, Type I	Optic atrophy, Choroidal neovascularization, Pathologic fracture, Increased bone mineral density,...	OMIM:259900
Blau Syndrome	Cataract, Flexion contracture of toe, Band keratopathy, Uveitis, Nongranulomatous uveitis, Campto...	OMIM:186580
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Cataract, Abnormality iris morphology, Megalocornea, Calf muscle pseudohypertrophy...	ORPHA:370959
Schimke Immuno-Osseous Dysplasia	Shallow acetabular fossae, Hypoplastic pelvis, Abnormal femoral head morphology, Wide capital fem...	ORPHA:1830
Sclerosteosis 1	Optic atrophy, Abnormal pelvic girdle bone morphology, Deviation of finger, Hearing impairment, F...	OMIM:269500
Fucosidosis	Hearing impairment, Corneal opacity	ORPHA:349
Fabry Disease	Cataract, Optic atrophy, Hearing impairment, Abnormal femur morphology, Sensorineural hearing imp...	ORPHA:324
12Q14 Microdeletion Syndrome	Clinodactyly of the 5th finger, Osteopoikilosis, Micrognathia	ORPHA:94063
Acrorenal-Mandibular Syndrome	Low-set ears, Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Elbow flexion contracture...	OMIM:200980
Late-Onset Retinal Degeneration	Choroidal neovascularization, Abnormal anterior eye segment morphology, Peripapillary atrophy, Ch...	ORPHA:67042
Phocomelia, Schinzel Type	Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi...	ORPHA:2879
Infantile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De...	ORPHA:206436
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Hypoplasia of the odontoid process, Li...	OMIM:252500
Gaucher Disease	Osteopenia, Hearing impairment, Osteolysis, Pathologic fracture, Osteomyelitis, Joint stiffness, ...	ORPHA:355
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Aplasia of the distal phalanx of the 5th toe, Hearing impairment, Brachydactyly, Corneal opacity,...	ORPHA:364577
Adult Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Pes cavus, EEG abnormality	ORPHA:206448
Erdheim-Chester Disease	Abnormal epiphysis morphology, Osteomyelitis, Increased bone mineral density, Abnormal metaphysis...	ORPHA:35687
Axenfeld-Rieger Syndrome, Type 2	Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae, Hearing impairment	OMIM:601499
Dyrk1A-Related Intellectual Disability Syndrome	Toe syndactyly, Structural foot deformity, Clinodactyly of the 5th finger, Multiple joint contrac...	ORPHA:464306
Gomez-Lopez-Hernandez Syndrome	Low-set ears, Craniosynostosis, Opacification of the corneal stroma, Posteriorly rotated ears	OMIM:601853
Atypical Werner Syndrome	Limitation of joint mobility, Finger clinodactyly, Sclerosis of hand bone, Micrognathia, Abnormal...	ORPHA:79474
Proteus-Like Syndrome	Genu recurvatum, Cataract, Lower limb asymmetry, Abnormal pupil morphology, Hyperostosis, Heteroc...	ORPHA:2969
Congenital Disorder Of Deglycosylation 1	Low-set ears, Small hand, Corneal opacity, Osteoporosis, Decreased sensory nerve conduction veloc...	OMIM:615273
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Short toe, Astigmatism, Protruding ear, Flexion contracture of finger,...	ORPHA:464311
Campomelic Dysplasia	Delayed epiphyseal ossification, Low-set ears, Hypoplastic scapulae, Hypoplastic cervical vertebr...	OMIM:114290
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Low-set ears, Radial bowing, Long ear, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Hum...	OMIM:276820
Osteoporosis-Pseudoglioma Syndrome	Cataract, Osteopenia, Pathologic fracture, Increased susceptibility to fractures, Tibial bowing, ...	OMIM:259770
Peroxisome Biogenesis Disorder 1A (Zellweger)	Low-set ears, Cataract, Abnormal helix morphology, Rocker bottom foot, Hearing impairment, Ulnar ...	OMIM:214100
Otopalatodigital Syndrome, Type Ii	Low-set ears, Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers...	OMIM:304120
Oculocerebrorenal Syndrome Of Lowe	Lentiglobus, Osteomalacia, Micrognathia, Genu valgum, Chorioretinal dysplasia, Patellar dislocati...	ORPHA:534
Fryns Syndrome	Short distal phalanx of finger, Low-set, posteriorly rotated ears, Micrognathia, Aganglionic mega...	ORPHA:2059
Autosomal Recessive Malignant Osteopetrosis	Abnormal epiphysis morphology, Hearing impairment, Optic nerve compression, Abnormal metaphysis m...	ORPHA:667
Adult-Onset Autosomal Dominant Leukodystrophy	Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl...	ORPHA:99027
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Corneal crystals, Chorioretinal atrophy	OMIM:210370
Wilson Disease	Pathologic fracture, Arthritis, Kayser-Fleischer ring	ORPHA:905
Wolf-Hirschhorn Syndrome	Optic atrophy, Hearing impairment, Short thumb, Megalocornea, Low-set, posteriorly rotated ears, ...	ORPHA:280
Williams Syndrome	Synostosis of joints, Megalocornea, Micrognathia, Genu valgum, Sensorineural hearing impairment, ...	ORPHA:904
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Coarse metaphyseal trabecularization, Flared metaphysis, Thickened cortex of long bones, Hip dysp...	OMIM:620558
Neurofibromatosis Type 1	Cataract, Osteopenia, Hearing impairment, Slender long bone, Chorioretinal coloboma, Joint stiffn...	ORPHA:636
Schimke Immunoosseous Dysplasia	Osteopenia, Shallow acetabular fossae, Hypoplasia of the capital femoral epiphysis, Astigmatism, ...	OMIM:242900
Cystinosis, Adult Nonnephropathic	Corneal crystals	OMIM:219750
Bartsocas-Papas Syndrome 1	Low-set ears, Hypoplastic scapulae, Hypoplastic iliac wing, Micrognathia, Talipes equinovarus, Ab...	OMIM:263650
Leukocyte Adhesion Deficiency, Type Iii	Osteopetrosis	OMIM:612840
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Absent brainstem auditory responses, Vestibular areflexia	ORPHA:3240
Norrie Disease	Cataract, Abnormal helix morphology, Optic atrophy, Ectopia lentis, Abnormal chorioretinal morpho...	ORPHA:649
Boomerang Dysplasia	Absent radius, Fibular aplasia, Hypoplastic iliac body	OMIM:112310
Meckel Syndrome	Cataract, Microcornea, Optic atrophy, Postaxial foot polydactyly, Preaxial hand polydactyly, Low-...	ORPHA:564
Roberts-Sc Phocomelia Syndrome	Low-set ears, Clinodactyly, Micrognathia, Abnormal metacarpal morphology, Absent radius, Absent e...	OMIM:268300
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Osteopetrosis	OMIM:618541
Mucopolysaccharidosis Type 2	Hip osteoarthritis, Optic atrophy, Otosclerosis, Limitation of joint mobility, Contractures of th...	ORPHA:580
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Low-set ears, Aplasia of the distal phalanx of the 5th toe, Short finger, Micrognathia, Sensorine...	OMIM:608670
Axenfeld-Rieger Syndrome, Type 1	Microcornea, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Hypoplasia of...	OMIM:180500
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Bone cyst, Corneal opacity, Iris coloboma, Osteolysis	ORPHA:2396
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Lathosterolosis	Cataract, Microcornea, Toe syndactyly, Postaxial foot polydactyly, Hearing impairment, Micrognath...	ORPHA:46059
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Optic atrophy, Optic nerve compression, Femur fracture, Oste...	OMIM:612301
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Fibular hypoplasia, Short ribs, Hypoplastic v...	ORPHA:3144
Mogs-Cdg	Optic atrophy, Overlapping fingers, Sensorineural hearing impairment, Absent brainstem auditory r...	ORPHA:79330
Pseudo-Torch Syndrome 1	Low-set ears, Cataract, Opacification of the corneal stroma, Microretrognathia	OMIM:251290
Mosaic Variegated Aneuploidy Syndrome	Cataract, Hearing impairment, Low-set, posteriorly rotated ears, Micrognathia, Corneal opacity, C...	ORPHA:1052
Tangier Disease	Opacification of the corneal stroma, Facial diplegia	OMIM:205400
Schinzel-Giedion Midface Retraction Syndrome	Low-set ears, Short distal phalanx of finger, Increased density of long bones, Short 1st metacarp...	OMIM:269150
Mucopolysaccharidosis Type 2, Severe Form	Optic atrophy, Otosclerosis, Limitation of joint mobility, Conductive hearing impairment, Camptod...	ORPHA:217085
Microphthalmia, Syndromic 3	Cataract, Optic nerve aplasia, Sensorineural hearing impairment, Missing ribs, Vertebral hypoplas...	OMIM:206900
Limb Body Wall Complex	Broad hallux, Aplasia of the proximal phalanges of the hand, Cutaneous finger syndactyly, Aplasia...	ORPHA:2369
Galloway-Mowat Syndrome 1	Low-set ears, Cataract, Joint contracture of the hand, Optic atrophy, Hand clenching, Slender fin...	OMIM:251300
Mucopolysaccharidosis Type 2, Attenuated Form	Optic atrophy, Otosclerosis, Limitation of joint mobility, Conductive hearing impairment, Camptod...	ORPHA:217093
Kindler Epidermolysis Bullosa	Palmoplantar keratoderma, Finger syndactyly, Camptodactyly of finger, Short 5th metacarpal, Short...	ORPHA:2908
Ablepharon Macrostomia Syndrome	Toe syndactyly, Atresia of the external auditory canal, Hearing impairment, Camptodactyly of fing...	ORPHA:920
Hec Syndrome	Abnormal pupil morphology, Developmental cataract	ORPHA:2119
Autosomal Dominant Cutis Laxa	Low-set ears, Osteopenia, Genu recurvatum, Talipes calcaneovalgus, Joint hypermobility, Protrudin...	ORPHA:90348
Peters Plus Syndrome	Cataract, Microcornea, Optic atrophy, Peters anomaly, Microtia, second degree, Conductive hearing...	ORPHA:709
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Preaxial foot polydactyly, Patellar hypoplasia	ORPHA:1827
Hydrolethalus Syndrome 1	Low-set ears, Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Talipes equinovaru...	OMIM:236680
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis, Early ossification of capital fe...	OMIM:208500
Yunis-Varon Syndrome	Low-set ears, Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Micrognathia, Decreased skull o...	OMIM:216340
Acrofrontofacionasal Dysostosis 1	Optic atrophy, Short distal phalanx of finger, Broad thumb, Acetabular dysplasia, Iris atrophy, M...	OMIM:201180
Primary Hyperoxaluria	Optic atrophy, Choroidal neovascularization, Generalized osteosclerosis, Optic disc pallor, Recur...	ORPHA:416
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microcornea, Facial paralysis, Hypoplasia of the iris, Ectopia pupillae, Peripapillary atrophy, A...	OMIM:175780
Encephalocraniocutaneous Lipomatosis	Sclerocornea, Limbal dermoid, Hypoplasia of the iris	OMIM:613001
Hutchinson-Gilford Progeria Syndrome	Low-frequency sensorineural hearing impairment, Hip dislocation, Limitation of joint mobility, Co...	ORPHA:740
Coats Disease	Leukocoria	OMIM:300216
Neonatal Marfan Syndrome	Low-set ears, Crumpled ear, Ectopia lentis, Megalocornea, Micrognathia, Joint hypermobility, Arac...	ORPHA:284979
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Finger syndactyly, Talipes calcaneovalgus, Micrognathia, Sensorineura...	ORPHA:818
Osteopathia Striata With Cranial Sclerosis	Low-set ears, Joint contracture of the hand, Craniofacial osteosclerosis, Tracheomalacia, Conduct...	OMIM:300373
Peroxisome Biogenesis Disorder 5A (Zellweger)	Low-set ears, Cataract, Abnormal helix morphology, Optic atrophy, Hearing impairment, Epiphyseal ...	OMIM:614866
1Q41Q42 Microdeletion Syndrome	Talipes equinovarus, Abnormality iris morphology	ORPHA:250999
Retinitis Pigmentosa 97	Iris atrophy	OMIM:620422
Mucoepithelial Dysplasia, Hereditary	Cataract, Hearing impairment, Corneal neovascularization, Keratoconjunctivitis, Opacification of ...	OMIM:158310
Gaucher Disease Type 3	Increased bone mineral density, Increased susceptibility to fractures, Osteolysis	ORPHA:77261
Neurocardiofaciodigital Syndrome	Cataract, Hearing impairment, Polydactyly, Sclerocornea, Optic disc pallor, Syndactyly	OMIM:619869
Apolipoprotein A-I Deficiency	Opacification of the corneal stroma	ORPHA:425
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Palmoplantar keratoderma, Corneal opacity	OMIM:620519
Collagenoma, Familial Cutaneous	Sensorineural hearing impairment, Iris atrophy	OMIM:115250
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Craniosynostosis, Palmoplantar keratoderma, Corneal opacity	ORPHA:79396
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Peters anomaly, Hearing impairment, Sclerocornea, Iris coloboma	OMIM:309801
Proboscis Lateralis	Cataract, Microcornea, Optic disc coloboma, Chorioretinal coloboma, Aplasia/Hypoplasia of the max...	ORPHA:141099
Cranioectodermal Dysplasia 1	Low-set ears, Short distal phalanx of finger, Rhizomelia, Clinodactyly, Short toe, Radial deviati...	OMIM:218330
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Low-set ears, Micrognathia, Keratoconjunctivitis sicca, Corneal opacity, Buphthalmos, Corneal dys...	ORPHA:495875
Microphthalmia With Linear Skin Defects Syndrome	Hearing impairment, Abnormal earlobe morphology, Micrognathia, Posterior embryotoxon, Mandibular ...	ORPHA:2556
Hereditary Acrokeratotic Poikiloderma	Hearing impairment, Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Joi...	ORPHA:2907
Histiocytoid Cardiomyopathy	Optic atrophy, Congenital aphakia, Corneal opacity, Megalocornea	ORPHA:137675
Phace Syndrome	Cataract, Heterochromia iridis, Sclerocornea, Lens coloboma, Iris coloboma, Optic nerve hypoplasia	ORPHA:42775
Charge Syndrome	Low-set ears, Cataract, Bifid femur, Cupped ear, Short thumb, Hand monodactyly, Aplasia of the se...	OMIM:214800
Orofaciodigital Syndrome Type 4	Low-set ears, Aplasia/Hypoplasia of the tibia, Absent crus of helix, Microtia, third degree, Cond...	ORPHA:2753
Microphthalmia, Syndromic 6	Lambdoidal craniosynostosis, Low-set ears, Microcornea, Toe syndactyly, Hearing impairment, Finge...	OMIM:607932
Fraser Syndrome 1	Low-set ears, Cupped ear, Atresia of the external auditory canal, Conductive hearing impairment, ...	OMIM:219000
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Keratitis, Ectrodactyly, Camptodactyly of finger, Macrotia, Oligodactyly, Abnormal pelvis bone mo...	ORPHA:2273
Wiedemann-Rautenstrauch Syndrome	Low-set ears, Cataract, Osteopenia, Optic atrophy, Hypoplastic ilia, Camptodactyly of finger, Rec...	ORPHA:3455
Xeroderma Pigmentosum	Cataract, Craniofacial hyperostosis, Optic atrophy, Keratitis, Hearing impairment, Pterygium, Sen...	ORPHA:910
Wilson Disease	Sunflower cataract, Kayser-Fleischer ring, Osteomalacia, Decreased nerve conduction velocity, Joi...	OMIM:277900
Tangier Disease	Facial diplegia, Corneal opacity	ORPHA:31150
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Tinnitus, Opacification of the corneal stroma, Hearing impairment	ORPHA:79280
Kinsship Syndrome	Low-set ears, Osteopenia, Micrognathia, Fibular hypoplasia, Polydactyly, Coxa valga, Pes planus, ...	OMIM:619297
Oculoectodermal Syndrome	Microcornea, Lower limb asymmetry, Astigmatism, Chorioretinal atrophy, Opacification of the corne...	OMIM:600268
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Cataract, Small hand, Cupped ear, Tracheomalacia, Hearing impairment, Conductive hearing impairme...	ORPHA:444077
Linear Skin Defects With Multiple Congenital Anomalies 3	Sclerocornea	OMIM:300952
Fryns Syndrome	Low-set ears, Short distal phalanx of finger, Joint contracture of the hand, Abnormal helix morph...	OMIM:229850
Osteopetrosis With Renal Tubular Acidosis	Optic atrophy, Conductive hearing impairment, Cranial nerve compression, Micrognathia, Osteopetro...	ORPHA:2785
Pierson Syndrome	Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body...	OMIM:609049
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pes cavus, Sensorineural hearing impairment, Hallux valgus, Papilledema, Corneal opacity	ORPHA:2072
Gaucher Disease, Type Iiic	Opacification of the corneal stroma, Pes cavus	OMIM:231005
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Optic atrophy, Megalocornea, Micrognathia, Enlarged flash visual evoked potentials, EEG...	OMIM:253280
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Arachnodactyly, Pes planus, Abnormality iris morphology	ORPHA:91387
Digeorge Syndrome	Low-set ears, Recurrent otitis media, Micrognathia, Posterior embryotoxon, Patellar dislocation, ...	OMIM:188400
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Keratitis, Hearing impairment, Ectrodactyly, Corneal neovascularization, Recurrent corneal erosio...	OMIM:308205
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	11 pairs of ribs, Opacification of the corneal stroma, Optic nerve dysplasia	OMIM:615287
Alopecia-Intellectual Disability Syndrome	Hearing impairment, EEG abnormality, Brachydactyly, Split hand, Flexion contracture, Macrotia	ORPHA:2850
Alopecia-Intellectual Disability Syndrome 1		OMIM:203650

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ahsg

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ahsg.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction.	Nature communications (October 2017)	Ahsg^{tm1.1(KOMP)Vlcg}	PMC5638796

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MGI Allele	Allele Type	Produced
Ahsg^{tm1.1(KOMP)Vlcg}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice, Tissue
Ahsg^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Ahsg MGI:107189

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

Adult LacZ

X-ray

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X-ray

Adult LacZ

Human diseases caused by Ahsg mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data