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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	6.04×10^-06
iris synechia	Ahsg^{tm1.1(KOMP)Vlcg}	HOM	Early adult	9.05×10^-05
corneal opacity	Ahsg^{tm1.1(KOMP)Vlcg}	HOM	Early adult	8.36×10^-06
short tibia	Ahsg^{tm1.1(KOMP)Vlcg}	HOM	Early adult	4.26×10^-17

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
Diaphragm	Section images	heterozygote	66.67% (2 of 3)
Epididymis	Section images	heterozygote	33.33% (1 of 3)
Gonadal fat pad	Wholemount images	heterozygote	33.33% (1 of 3)
Ileum	Section images	heterozygote	100% (3 of 3)
Jejunum	Section images	heterozygote	66.67% (2 of 3)
Kidney	Section images	heterozygote	66.67% (2 of 3)
Liver	Section images	heterozygote	100% (3 of 3)
Ovary	Wholemount images	heterozygote	33.33% (1 of 3)
Oviduct	Wholemount images Section images	heterozygote	66.67% (2 of 3)
Prostate gland	Section images	heterozygote	33.33% (1 of 3)
Tongue	Section images	heterozygote	66.67% (2 of 3)
Uterus	Wholemount images	heterozygote	33.33% (1 of 3)
Vas deferens	Section images	heterozygote	33.33% (1 of 3)
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)
Duodenum	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
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
Large intestine	N/A	heterozygote	33.33% (1 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)
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)
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)
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)
Vagina	N/A	heterozygote	0.0% (0 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 Skull Dorso Ventral Orientation

9 Images

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Adult LacZ

LacZ Images Section

24 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Hind Leg and Hip

9 Images

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Adult LacZ

LacZ Images Wholemount

6 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

View images

X-ray

XRay Images Forepaw

9 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 (707 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		Brachydactyly, Flexion contracture, Split hand, EEG abnormality, Macrotia, Hearing impairment	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	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Corneal Dystrophy-Perceptive Deafness Syndrome	Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy	ORPHA:1490
Winchester Syndrome	Corneal opacity, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, General...	OMIM:277950
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Mueller-Weiss Syndrome	Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone...	ORPHA:566943
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, Facial palsy, Senso...	ORPHA:3152
Hyperostosis Corticalis Generalisata	Facial palsy, Generalized osteosclerosis, Sensorineural hearing impairment, Cranial hyperostosis,...	ORPHA:3416
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Osteosclerotic Metaphyseal Dysplasia	Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclerosis	OMIM:615198
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Osebold-Remondini Syndrome	Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,...	OMIM:112910
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Optic atrophy from cranial nerve compressio...	OMIM:239100
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Galactosialidosis	Corneal opacity, Hearing impairment	ORPHA:351
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Buschke-Ollendorff Syndrome	Osteopoikilosis, Flexion contracture, Lower limb asymmetry, Joint stiffness	OMIM:166700
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin...	OMIM:256450
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Facial palsy, Generalized osteosclerosis, Sensorineural hearing impair...	ORPHA:2790
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Flynn-Aird Syndrome	Increased bone mineral density, Cataract, Joint stiffness, Osteoporosis, Increased bone density w...	OMIM:136300
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density, Pedal edema	ORPHA:75325
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:609129
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Low-set, posteriorly rotated ears, Corneal opacity, Reduced bone mineral density, Abnormal pelvic...	ORPHA:2370
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset trunc...	ORPHA:71529
Ophthalmomandibulomelic Dysplasia	Corneal opacity, Camptodactyly of finger, Micromelia, Limitation of joint mobility, Lateral humer...	ORPHA:2741
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Type 2 Diabetes Mellitus	Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus	OMIM:125853
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Isolated Osteopoikilosis	Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m...	ORPHA:166119
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Corneal Dystrophy And Perceptive Deafness	Sensorineural hearing impairment, Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Joint stiffness, Shallow anterior chamber, Posterior synechiae of t...	OMIM:613195
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone...	ORPHA:1879
Osteopetrosis, Autosomal Recessive 6	Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero...	OMIM:611497
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo...	OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:3177
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Anterior Segment Dysgenesis 5	Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri...	OMIM:604229
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Facial palsy, Craniosynostosis, Optic atrophy, Hearing impairment	ORPHA:178377
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb...	ORPHA:90650
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density	OMIM:602475
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Sensorineural hearing impairment, Rickets, Hypo...	OMIM:241520
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ...	ORPHA:293964
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Mietens Syndrome	Hypoplasia of the ulna, Cataract, Corneal opacity, Talipes, Sclerocornea, Joint stiffness, Metata...	ORPHA:2557
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se...	OMIM:617885
Eiken Syndrome	Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morph...	ORPHA:79106
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia	ORPHA:329249
Morquio Syndrome C	Corneal opacity	OMIM:252300
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Conductive hea...	OMIM:607634
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Corneal Dystrophy, Epithelial Basement Membrane	Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions	OMIM:121820
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation...	ORPHA:3329
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc...	ORPHA:171706
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Talipes equinovarus, Facial palsy, Abnormal auditory e...	OMIM:601382
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions	OMIM:217800
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Corneal opacity	ORPHA:2432
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholestero...	OMIM:232700
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Mucolipidosis Type Iii	Craniofacial hyperostosis, Corneal opacity, Joint stiffness, Reduced bone mineral density, Abnorm...	ORPHA:577
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, Chorioretinal colobom...	ORPHA:1473
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Ulnar deviated club hands, Fibular hypoplasia, Lateral humeral condyle...	OMIM:164900
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Facial palsy, Mandibular osteomyelitis, Fractures of the long bones, General...	OMIM:166600
Mody	Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di...	ORPHA:552
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin...	OMIM:606762
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Cataract, Posteriorly rotated ears, Micrognathia, Congenital sens...	OMIM:617306
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Papilledema, Cortical sclerosis, Craniofacial osteosclerosis, Optic at...	OMIM:122860
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Sensorineural hearing impairment, Iris cyst, Optic atrophy	OMIM:620086
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Coronary Artery Disease, Autosomal Dominant 2	Glucose intolerance, Hypertriglyceridemia, Impaired glucose tolerance, Type II diabetes mellitus	OMIM:610947
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Stickler Syndrome Type 2	Sensorineural hearing impairment, Cataract, Corneal opacity	ORPHA:90654
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L...	ORPHA:1423
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Endosteal Hyperostosis, Autosomal Dominant	Sensorineural hearing impairment, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpa...	OMIM:144750
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Limb undergrowth, Increased bone mineral density, Abnormal cortical bone morphology, Abnormal lim...	ORPHA:2204
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma	OMIM:608470
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Ulnar deviation of the hand, Corneal opacity, Ankle swelling, Micrognathia, Osteolysi...	OMIM:166300
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Micrognathia, Shor...	ORPHA:2756
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum...	OMIM:600785
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Melorheostosis	Increased bone mineral density, Joint stiffness, Lower limb asymmetry, Hyperostosis, Arthritis, E...	ORPHA:2485
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Diastrophic Dysplasia	Low-set, posteriorly rotated ears, Increased bone mineral density, Bowing of the long bones, Camp...	ORPHA:628
Hypertriglyceridemia 1	Glucose intolerance, Hypopituitarism, Hypertriglyceridemia	OMIM:145750
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Brachyolmia Type 1, Toledo Type	Broad tibial metaphyses, Precocious costochondral ossification, Short femoral neck, Opacification...	OMIM:271630
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Cranial nerve...	ORPHA:210110
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Recurrent fractures, Sclerocornea, Keratoglobus, Decreased corneal thic...	OMIM:614170
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Glaucoma, Primary Closed-Angle	Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio	OMIM:618880
Al-Gazali Syndrome	Osteopenia, Proximal radio-ulnar synostosis, Corneal opacity, Recurrent fractures, Sclerocornea, ...	OMIM:609465
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Anis...	ORPHA:263479
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Albers-Schönberg Osteopetrosis	Osteomyelitis, Recurrent fractures, Facial palsy, Mandibular osteomyelitis, Generalized osteoscle...	ORPHA:53
Bilateral Striopallidodentate Calcinosis	Corneal opacity	ORPHA:1980
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Posteriorly rotated ears, Overlapping toe, Micrognathia, Fibular hypoplasia, Ta...	OMIM:201170
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hyperinsulinemia, Hypoglycemia	OMIM:606528
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Corneal opacity, Micrognathia, Small hand, Antecubital pterygium...	OMIM:619339
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Facial palsy, Sensorineural hearing impairment, Osteopetrosis, Conduct...	ORPHA:1522
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe...	OMIM:221900
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Crumpled long bones, Corneal opacity, Metaphyseal widening, Osteoporosi...	ORPHA:2788
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi...	ORPHA:324575
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Cupped ear, Hand monodacty...	OMIM:119100
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Abnormal pinna morphology, Band keratopathy, Hypoplasia of the iris, Anterior ...	OMIM:614195
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Micrognathia, Hypoplasia of the iris, Anterior synechiae ...	ORPHA:96125
Deafness, Autosomal Recessive 108	Congenital sensorineural hearing impairment, Iris coloboma	OMIM:617654
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Cataract, Micrognathia, Coxa valga, Flat acetabular roof, Flatten...	ORPHA:163649
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Corneal opacity, Metaphyseal widening, Squared iliac bones, Short long bone, Short...	OMIM:618961
Slc35A2-Cdg	Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Coxa valga, Metata...	ORPHA:356961
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	EEG abnormality, Flexion contracture, Corneal opacity, Developmental cataract	OMIM:618815
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
2Q24 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Cataract, Toe syndactyly, Camptodactyly of finger, Long finger...	ORPHA:1617
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Hypoglycemia, Anterior pituitary hypoplasia, Decreased circulating...	ORPHA:453533
Stuve-Wiedemann Syndrome 1	Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, Short phalanx...	OMIM:601559
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv...	OMIM:215045
Axenfeld-Rieger Syndrome, Type 3	Sensorineural hearing impairment, Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae o...	OMIM:602482
Familial Tumoral Calcinosis	Calcification of muscles	ORPHA:53715
Oculoauricular Syndrome	Cataract, Short mandibular rami, Sclerocornea, Absent earlobe, Chorioretinal atrophy, Development...	OMIM:612109
Spondyloepiphyseal Dysplasia Tarda	Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e...	ORPHA:93284
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Obesity	OMIM:618406
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis, Hearing impairment	OMIM:167250
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova...	OMIM:601356
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Excessive insulin response to glucagon test, Maternal diabetes, Large for gestational age, Hyperi...	ORPHA:276580
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Femur fracture, Facial palsy, Craniosynostosis, Op...	OMIM:259700
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesity, Hypoglycemic se...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesity, Hypoglycemic se...	ORPHA:71526
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Abnormal auditory evoked potentials, Coxa valga, Sensorineural hearing impairment...	OMIM:109120
Erythrokeratodermia Variabilis	Brachydactyly, Cataract, Corneal opacity, Tapered finger, Patchy palmoplantar hyperkeratosis, Pro...	ORPHA:317
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia, Obesity, Increased resting energy expenditure	ORPHA:369873
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Wide dist...	OMIM:614856
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b...	OMIM:224300
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa...	OMIM:112250
Alpha-Mannosidosis	Craniofacial hyperostosis, Bowing of the long bones, Cataract, Corneal opacity, Macrotia, Arthrit...	ORPHA:61
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Low-set ...	OMIM:258860
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote...	ORPHA:320401
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Hearing impairmen...	ORPHA:1782
Hurler-Scheie Syndrome	Abnormal nerve conduction velocity, Sensorineural hearing impairment, Limitation of joint mobilit...	ORPHA:93476
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Osteopetrosis, Autosomal Recessive 9	Papilledema, Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture	OMIM:620366
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Peripheral opacification of the cornea, Micrognathia, Metaphyseal widening, Metatarsa...	OMIM:259600
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia, Hypergonadotropic hypogonadism, Male hypogonadism	OMIM:307500
Sialidosis Type 2	Corneal opacity, Flexion contracture, Osteoporosis, Pedal edema, Hearing impairment	ORPHA:87876
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia...	ORPHA:276608
Obesity And Hypopigmentation	Hyperinsulinemia, Obesity	OMIM:620195
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Gómez-López-Hernández Syndrome	Corneal opacity, Low-set ears	ORPHA:1532
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Plin1-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Hyperinsulinemia, Abnormal ...	ORPHA:280356
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Increased bone mineral density, Diaphyseal dysplasia, Hyperostosis cranialis interna	OMIM:231095
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri...	ORPHA:67043
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowing...	OMIM:620076
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ...	ORPHA:85184
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Corneal opacity, Rhizomelia, Metaphy...	ORPHA:85167
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Caffey Disease	Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo...	OMIM:114000
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Osteopetrosis, Autosomal Recessive 4	Optic disc pallor, Increased bone mineral density, Facial palsy, Recurrent fractures, Optic atrop...	OMIM:611490
Cysticercosis	Calcification of muscles, Cerebral calcification, Abnormal skeletal muscle morphology	ORPHA:1560
Norrie Disease	Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, Leukocoria, Hypoplasi...	OMIM:310600
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract, Irregular tarsal ...	OMIM:221800
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Microcephaly-Micromelia Syndrome	Craniosynostosis, Micrognathia, Micromelia, Absent thumb, Absent radius, Humeroradial synostosis,...	OMIM:251230
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari...	OMIM:617519
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus...	OMIM:166260
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Cataract, Sclerocornea, Proximal placement of thumb, Sensorineural hearing imp...	ORPHA:139471
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Protruding ear, Clinodactyly of the 5th finger, Short ...	OMIM:268305
Phacoanaphylactic Uveitis	Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, ...	ORPHA:209959
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Excessive insulin response to glucagon test, Large for gestational age, Hyperinsulinemia, Hypogly...	ORPHA:276575
Osteopathia Striata-Cranial Sclerosis Syndrome	Increased bone mineral density, Cataract, Posteriorly rotated ears, Facial palsy, Micrognathia, L...	ORPHA:2780
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of the odontoi...	ORPHA:239
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe...	OMIM:619326
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu...	OMIM:119800
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Optic disc coloboma, Hypoplas...	OMIM:169550
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,...	OMIM:262190
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Enthesitis, ...	ORPHA:89936
Short Syndrome	Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Sensorineural hearing impairme...	ORPHA:3163
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th...	ORPHA:2502
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia	ORPHA:35878
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Mucolipidosis Iv	Optic atrophy, Corneal opacity, Opacification of the corneal stroma	OMIM:252650
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Joint laxity, Iris atrophy, Pes planus, Cataract, Arachnodactyly, Broad hallux, Ectopia lentis, S...	OMIM:601552
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Broad finger, Astigmatism, Abnormal auditory evoked potentials	OMIM:617523
Scheie Syndrome	Pes cavus, Corneal opacity, Genu valgum	OMIM:607016
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Large for gestational age, Abnormal response t...	ORPHA:79644
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synos...	ORPHA:90652
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Sensorineural hearing impairment, Microcornea, Anterior synechiae of the anterior chamber, Iris c...	ORPHA:3214
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Corneal opacity, Talipes, Micrognathia, Aplasia/Hypoplasia of ...	ORPHA:1234
Osteopetrosis, Autosomal Recessive 2	Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial nerve compression, Cranial ...	OMIM:259710
Craniometaphyseal Dysplasia, Autosomal Dominant	Mixed hearing impairment, Facial palsy, Metaphyseal widening, Cranial hyperostosis, Flared metaph...	OMIM:123000
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se...	OMIM:601455
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han...	ORPHA:56305
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus,...	OMIM:604367
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite...	OMIM:258315
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea	ORPHA:83461
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, Myopic astigmatism, Op...	OMIM:152950
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne...	OMIM:613270
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr...	OMIM:239000
Mucopolysaccharidosis, Type Ivb	Joint laxity, Corneal opacity, Joint stiffness, Epiphyseal deformities of tubular bones, Hypoplas...	OMIM:253010
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Diabetes mellitus, Hyperinsulinemia	ORPHA:79084
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Recurrent fractures, Rocker bottom foot, Micrognathia, Keratitis, Talipes equinova...	ORPHA:453510
Harel-Yoon Syndrome	Corneal opacity, Micrognathia, Talipes equinovalgus, Optic atrophy, Developmental cataract, Hip d...	OMIM:617183
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Corneal opacity, Craniosynostosis, Micrognathia, Developmental glaucoma, Aniridia	ORPHA:1064
Congenital Rubella Syndrome	Cataract, Corneal opacity, Sensorineural hearing impairment, Aplasia/Hypoplasia of the iris, Abno...	ORPHA:290
Ravine Syndrome	Abnormal auditory evoked potentials	ORPHA:99852
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Corneal opacity, Micromelia, Ulnar bowing, Aplasia/Hypoplasia of the radius	ORPHA:1765
Multiple Sulfatase Deficiency	Broad hallux phalanx, Cataract, Corneal opacity, Joint stiffness, Sensorineural hearing impairmen...	ORPHA:585
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Rhizomelia, Abnormal pinna morphology, Sandal gap, Sensorineural hear...	OMIM:607143
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Cataract, Short metacarpal, Rhizomelia, Aplastic clavicle, Microg...	ORPHA:50945
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Osteoarthritis, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bow...	OMIM:602111
Charcot-Marie-Tooth Disease Type 1B	Decreased nerve conduction velocity, Abnormal pupil morphology, Hearing impairment	ORPHA:101082
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Corneal Dystrophy, Thiel-Behnke Type	Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy	OMIM:602082
Intermediate Uveitis	Anterior uveitis, Posterior synechiae of the anterior chamber, Cataract, Band keratopathy	ORPHA:279914
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal dystrophy, Corneal guttata	OMIM:610158
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Joint laxity, Corneal opacity, Hip dislocation, Protruding ear, Developmental catarac...	OMIM:616603
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos...	ORPHA:289176
Orofaciodigital Syndrome Ix	Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly	OMIM:258865
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Oculomaxillofacial Dysostosis	Corneal opacity, Camptodactyly of finger, Micrognathia, Abnormality of the humerus, Adducted thum...	ORPHA:1794
Scheie Syndrome	Corneal opacity, Joint stiffness, Sensorineural hearing impairment, Limitation of joint mobility,...	ORPHA:93474
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Mucopolysaccharidosis Type 4	Bowing of the long bones, Corneal opacity, Coxa valga, Reduced bone mineral density, Genu valgum,...	ORPHA:582
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Corneal opacity, Talipes, Aplasia/Hypoplasia of th...	ORPHA:1647
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Idiopathic Panuveitis	Conjunctival hyperemia, Cataract, Choroidal neovascularization, Posterior synechiae of the anteri...	ORPHA:280921
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Microcornea, Conductive hearing ...	OMIM:201000
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Iridodonesis, Micrognathia, Tapered finger, Sensorineural hearing impairment, Protrud...	ORPHA:2479
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Flexion contracture, Optic atrophy, Developmental cataract, Posterior synechiae of the anterior c...	OMIM:613154
Pycnodysostosis	Joint laxity, Increased bone mineral density, Rhizomelia, Micrognathia, Lower limb asymmetry, Gen...	ORPHA:763
Femoral-Facial Syndrome	Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Radioulnar synostosis, Microtia...	ORPHA:1988
3Q29 Microduplication Syndrome	Cataract, Toe syndactyly, Sandal gap, Sclerocornea, Craniosynostosis, Aniridia, Low-set ears, Cam...	ORPHA:251038
Weismann-Netter Syndrome	Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Calvarial hy...	OMIM:112350
Galactokinase Deficiency	Small for gestational age, Hypoglycemia, Hypergonadotropic hypogonadism, Hyperinsulinemia, Hyperc...	ORPHA:79237
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ...	OMIM:616300
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Diabetes mellitus, Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia	OMIM:616033
Hyperinsulinism Due To Ucp2 Deficiency	Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, ...	ORPHA:276556
Sanjad-Sakati Syndrome	Low-set, posteriorly rotated ears, Corneal opacity, Patchy osteosclerosis, Micrognathia, External...	ORPHA:2323
Mucolipidosis Iii Gamma	Joint stiffness, Flat capital femoral epiphysis, Genu valgum, Flared iliac wing, Opacification of...	OMIM:252605
Thrombocytopenia-Absent Radius Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Tibial torsion, Micrognathia, Absent radius...	ORPHA:3320
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi...	OMIM:307800
Camurati-Engelmann Disease	Increased bone mineral density, Cranial nerve compression, Diaphyseal sclerosis, Genu valgum, Cor...	OMIM:131300
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Limitation of joint mobility, Coxa vara, Hypoplasia of the capital femoral epiphysis, Irregular e...	OMIM:313400
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene...	OMIM:609441
Solitary Fibrous Tumor	Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia, Weight loss	ORPHA:2126
Zellweger Syndrome	Cataract, Corneal opacity, Abnormal chorioretinal morphology, Micrognathia, Brushfield spots, Ext...	ORPHA:912
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Joint stiffness, Metaphyseal widening, Coxa vara, Femoral bowing, T...	OMIM:608940
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Corneal opacity, Optic nerve hypoplasia, Micrognathia, Optic atrophy, Positional foot d...	ORPHA:496790
Pseudohypoparathyroidism Type 1A	Increased bone mineral density, Cataract, Short metacarpal, Short fifth metatarsal, Band keratopa...	ORPHA:79443
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Posteriorly rotated ears, Corneal opacity, Micrognathia, Keratitis, Microtia, Conjunctivitis	OMIM:602562
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla...	OMIM:227270
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
Ichthyosis, X-Linked	Palmoplantar keratoderma, Opacification of the corneal stroma	OMIM:308100
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Generalized joint laxity, Flexion contract...	ORPHA:536471
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Alpha-Mannosidosis, Adult Form	Osteopenia, Optic disc pallor, Mixed hearing impairment, Cataract, Corneal opacity	ORPHA:309288
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Hypoplasia of the i...	ORPHA:1422
Mucolipidosis Type Iv	EEG abnormality, Genu recurvatum, Corneal opacity, Palmoplantar keratoderma	ORPHA:578
Microphthalmia, Isolated, With Coloboma 9	Sclerocornea, Microcornea, Low-set ears, Ocular anterior segment dysgenesis, Macrotia, Iris coloboma	OMIM:615145
Schnitzler Syndrome	Arthritis, Increased bone mineral density	ORPHA:37748
Arthrogryposis, Distal, Type 2A	Hip contracture, Flexion contracture of finger, Recurrent fractures, Shoulder flexion contracture...	OMIM:193700
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Hyperopic astigmatism, Craniosynostosis, Irregula...	OMIM:252600
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity, Short finger, Tapered finger	ORPHA:1867
Retinitis Pigmentosa	Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Obesity	ORPHA:791
Beemer-Ertbruggen Syndrome	Low-set, posteriorly rotated ears, Increased bone mineral density, Micrognathia	ORPHA:1237
Olmsted Syndrome 1	Autoamputation of digits, Corneal opacity, Flexion contracture, Palmoplantar keratoderma, Opacifi...	OMIM:614594
Insensitivity To Pain, Congenital, With Anhidrosis	Postural hypotension with compensatory tachycardia, Osteomyelitis, Autoamputation of digits, Kera...	OMIM:256800
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology, Flexion contracture, Areflexia of lower limbs, Hyporeflexia of lower l...	OMIM:160565
Neurotrophic Keratopathy	Anterior uveitis, Abnormal fifth cranial nerve morphology, Corneal scarring, Corneal stromal edem...	ORPHA:137596
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ...	OMIM:615363
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
Tibial Hemimelia	Absent tibia	OMIM:275220
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization	ORPHA:163934
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Overlapping fingers, Corneal opacity, Optic nerve hypoplasia, Craniosynostosis, Posteriorly rotat...	OMIM:301056
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Cataract, Corneal opacity, Camptodactyly of finger, Sclerocornea, Hearing impa...	ORPHA:284160
Kniest Dysplasia	Hip contracture, Cataract, Rhizomelia, Dumbbell-shaped long bone, Conductive hearing impairment, ...	OMIM:156550
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Corneal opacity, Facial palsy,...	ORPHA:570
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Sjogren-Larsson Syndrome	Flexion contracture, Astigmatism, Opacification of the corneal epithelium	OMIM:270200
Sympathetic Ophthalmia	Papilledema, Cataract, Anterior chamber cells, Posterior synechiae of the anterior chamber, Poste...	ORPHA:79098
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Cataract, Abnormal auditory evoked potentials, Sensorineural hearing impairmen...	OMIM:619260
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Abnormally ossified vertebrae, Cataract, Posteriorly rotated ears, Short me...	ORPHA:1427
Microphthalmia, Syndromic 16	Sclerocornea	OMIM:611038
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op...	ORPHA:98957
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Corneal opacity, Recurrent fractures, Micrognathia, Hyperextensibility of the knee...	OMIM:601812
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Oculocerebral Hypopigmentation Syndrome, Cross Type	Cataract, Corneal opacity, Arachnodactyly, Abnormal thumb morphology, Sensorineural hearing impai...	ORPHA:2719
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le...	OMIM:300554
Pseudohypoparathyroidism Type 1C	Increased bone mineral density, Cataract, Short metacarpal, Short fifth metatarsal, Short metatar...	ORPHA:79444
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Increased bone mineral density, Facial palsy, Micrognathia, Cranial hyperostos...	OMIM:259720
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Corneal opacity, Optic disc coloboma, Chorioretinal coloboma, Peters anomaly	OMIM:120200
Cleidocranial Dysplasia 1	Micrognathia, Absent frontal sinuses, Short middle phalanx of the 2nd finger, Coxa vara, Hypoplas...	OMIM:119600
Gm1-Gangliosidosis, Type Iii	Hypoplastic acetabulae, Flared iliac wing, Pes cavus, Opacification of the corneal stroma	OMIM:230650
Sialidosis Type 1	Cataract, Corneal opacity, Decreased nerve conduction velocity, Sensorineural hearing impairment,...	ORPHA:812
Gorlin-Chaudhry-Moss Syndrome	Sclerocornea, Abnormal foot morphology, Astigmatism, Abnormal metacarpal morphology, Conductive h...	ORPHA:2095
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Obesity	ORPHA:3085
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Truncal obesity, Abdominal obesity, Type II diabetes mellitus, Hypercholest...	OMIM:615812
Craniosynostosis With Fibular Aplasia	Craniosynostosis, Fibular aplasia	OMIM:218550
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Coxa vara, Microcornea, Wrist flexion contracture, Low-set, posteriorly...	ORPHA:800
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Sclerocornea, Micrognathia, 2-3 toe cutaneous syndactyly, Narrow foot, ...	OMIM:600920
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Absent Achi...	ORPHA:1215
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Abnormal pinna morphology, Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic...	OMIM:617925
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep...	OMIM:600081
Abcd Syndrome	Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ...	OMIM:600501
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Corneal opacity, Recurrent fractures, Abnormal toe morphology, Abnormal finger morpho...	OMIM:163200
Mosaic Trisomy 8	Corneal opacity, Camptodactyly of finger, Abnormal pinna morphology, Micrognathia, Limitation of ...	ORPHA:96061
Autoimmune Hypoparathyroidism	Increased bone mineral density, Cataract, Conjunctivitis	ORPHA:36913
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos...	ORPHA:2751
Lowry-Maclean Syndrome	Osteopenia, Corneal opacity, Craniosynostosis, Micrognathia, Developmental glaucoma, Osteoporosis...	ORPHA:2409
Autosomal Recessive Cutis Laxa Type 2A	Pes planus, Congenital hip dislocation, Corneal opacity, Increased susceptibility to fractures, A...	ORPHA:357058
Dysostosis, Stanescu Type	Increased bone mineral density, Bowing of the long bones, Micromelia, Abnormal epiphysis morpholo...	ORPHA:1798
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Protruding ear, Microcornea, Keratoconjunctivitis sicc...	ORPHA:1806
Hurler Syndrome	Corneal opacity, Hypoplasia of the femoral head, Joint stiffness, Coxa valga, Hypoplasia of the o...	OMIM:607014
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Uveitis, Abnormality of the ankl...	ORPHA:85410
Mucopolysaccharidosis Type 7	Corneal opacity, Joint stiffness, Metatarsus adductus, Epiphyseal stippling, Abnormal hip bone mo...	ORPHA:584
Kenny-Caffey Syndrome, Type 2	Papilledema, Increased bone mineral density, Developmental cataract, Thickened cortex of long bon...	OMIM:127000
Congenital Generalized Lipodystrophy	Diabetes mellitus, Hypertriglyceridemia, Precocious puberty in females, Insulin resistance, Hyper...	ORPHA:528
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Cataract, Pseudoepiphyses of the metacarpals, Micrognathia,...	OMIM:618150
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Abnormal circulating leptin concentration, Insulin resistance, Fastin...	ORPHA:2298
Walker-Warburg Syndrome	Cataract, Corneal opacity, Posteriorly rotated ears, Chorioretinal dysplasia, Optic atrophy, Prot...	ORPHA:899
Pseudohypoparathyroidism Type 1B	Increased bone mineral density, Cataract, Cortical subperiosteal resorption of humeral metaphyses...	ORPHA:94089
Familial Dysautonomia	Orthostatic hypotension, Corneal opacity, Recurrent fractures, Abnormal pupil morphology, Corneal...	ORPHA:1764
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re...	ORPHA:2457
Osteopetrosis, Autosomal Recessive 8	Facial palsy, Optic atrophy, Osteopetrosis	OMIM:615085
Severe Early-Childhood-Onset Retinal Dystrophy	Optic disc pallor, Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Chori...	ORPHA:364055
Microphthalmia With Limb Anomalies	Toe syndactyly, Posteriorly rotated ears, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous s...	OMIM:206920
Frontometaphyseal Dysplasia	Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Conductive hearing ...	ORPHA:1826
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Flexion contracture, Synovitis, Increased suscepti...	ORPHA:77297
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Pes planus, Cataract, Rhizomelia, Sclerocornea, 2-3 toe syndactyly, Microcornea, Ectopia pupillae...	OMIM:615877
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Micrognathia, Flexion contracture, Tibial bowing, Hypoplastic iliac wing, Small proximal tibial e...	ORPHA:96334
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ...	ORPHA:52368
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Increased suscept...	OMIM:602080
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Corneal opacity	OMIM:613153
Aniridia 1	Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,...	OMIM:106210
Larsen Syndrome	Joint laxity, Vertebral fusion, Short metacarpal, Corneal opacity, Spatulate thumbs, Conductive h...	OMIM:150250
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Increased bone mineral density, Facial palsy, Aplastic clavicle, Abnormal meta...	ORPHA:2658
Brittle Cornea Syndrome	Hallux valgus, Pes planus, Arachnodactyly, Corneal dystrophy, Corneal erosion, Sensorineural hear...	ORPHA:90354
Werner Syndrome	Increased bone mineral density, Cataract, Rocker bottom foot, Joint stiffness, Osteoporosis, Smal...	ORPHA:902
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi...	ORPHA:1788
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Hypertriglyceridemia, Hyperinsulinemia	ORPHA:363400
Neuhauser Syndrome	Osteopenia, Iridodonesis, Pes planus, Genu recurvatum, Arachnodactyly, Micrognathia, Cupped ear, ...	OMIM:249310
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Tricho-Dento-Osseous Syndrome	Finger clinodactyly, Increased bone mineral density	ORPHA:3352
Rodrigues Blindness	Microcornea, Sclerocornea, Protruding ear	OMIM:268320
Fish-Eye Disease	Corneal opacity	ORPHA:79292
Focal Dermal Hypoplasia	Finger syndactyly, Toe syndactyly, Corneal opacity, Camptodactyly of finger, Hearing impairment, ...	ORPHA:2092
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperpl...	ORPHA:263455
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic...	ORPHA:198
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Short femur, Talipes equinovarus	OMIM:620306
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Generalized bone demineralization, Opacification of the corneal stroma	OMIM:215250
Acromelic Frontonasal Dysostosis	Syndactyly, Optic nerve hypoplasia, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hyp...	OMIM:603671
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia, Abnormality...	ORPHA:3035
Fibrochondrogenesis 1	Short palm, Hypoplastic scapulae, Abnormal pinna morphology, Rhizomelia, Dumbbell-shaped long bon...	OMIM:228520
3Mc Syndrome 3	Abnormal pinna morphology, Corneal opacity, Preaxial polydactyly, Radioulnar synostosis, Auricula...	OMIM:248340
Pycnodysostosis	Increased bone mineral density, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Osteolyt...	OMIM:265800
Desmosterolosis	Low-set, posteriorly rotated ears, Increased bone mineral density, Talipes, Micromelia, Micrognat...	ORPHA:35107
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma	ORPHA:1643
Mucopolysaccharidosis, Type Vii	Corneal opacity, Joint stiffness, Metatarsus adductus, Hypoplasia of the odontoid process, Sensor...	OMIM:253220
Chromosome 6Pter-P24 Deletion Syndrome	Joint laxity, Broad toe, Posteriorly rotated ears, Rocker bottom foot, Sensorineural hearing impa...	OMIM:612582
Charcot-Marie-Tooth Disease Type 1E	Hyporeflexia of lower limbs, Distal lower limb muscle weakness, Peroneal muscle weakness, Equinov...	ORPHA:90658
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Familial Renal Glucosuria	Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm...	ORPHA:69076
Congenital Sialidosis Type 2	Cataract, Corneal opacity, Optic atrophy, Developmental cataract, Polydactyly, Low-set ears, Hear...	ORPHA:93400
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Increased skull ossification, Craniofacial osteosclerosis, Optic atrophy, Diaphyseal sclerosis, M...	OMIM:618476
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia	OMIM:616260
Farber Disease	Abnormality of the knee, Corneal opacity, Abnormal foot morphology, Short toe, Flexion contractur...	ORPHA:333
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Hypopl...	ORPHA:33364
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity	ORPHA:281090
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Joint stiffness, Genu valgum, Opacification of the corneal stroma, Abnormal...	ORPHA:583
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bowing, Narrow...	OMIM:223800
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Microcornea, Hypoplastic iliac wing, Clinodactyly of t...	OMIM:260660
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Corneal opacity, Abnormality of cartilage of external ear, Cupped ear, Low-set ears, Cl...	ORPHA:2399
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Mixed hearing impairment, Cataract, Corneal opacity, Optic disc pallor,...	ORPHA:309282
Raine Syndrome	Increased bone mineral density, Mixed hearing impairment, Posteriorly rotated ears, Abnormal pinn...	OMIM:259775
Hurler-Scheie Syndrome	Corneal opacity, Camptodactyly of finger, Micrognathia, Joint stiffness, Contracture of the dista...	OMIM:607015
Cerebrotendinous Xanthomatosis	Osteopenia, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased n...	ORPHA:909
Wagro Syndrome	Cataract, Corneal opacity, Micrognathia, Low-set ears, Aniridia	OMIM:612469
Multiple Sulfatase Deficiency	Broad hallux, Corneal opacity, Hypoplastic vertebral bodies, Broad thumb, Hearing impairment	OMIM:272200
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Increased body mass index, Enlarged pituitary gland,...	ORPHA:300373
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Posteriorly rotated ears, Patchy osteosclerosis, Micrognathia, Small hand, Short foot, Low-set ea...	OMIM:241410
Juvenile Sialidosis Type 2	Cataract, Corneal opacity, Optic atrophy, Low-set ears, Hearing impairment	ORPHA:93399
Mucopolysaccharidosis, Type Iva	Joint laxity, Coxa valga, Epiphyseal deformities of tubular bones, Hypoplasia of the odontoid pro...	OMIM:253000
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Vestibular areflexia, Osteopetrosis	ORPHA:3240
Gm1 Gangliosidosis	Corneal opacity, Camptodactyly of finger, Joint stiffness, Optic atrophy, Abnormal diaphysis morp...	ORPHA:354
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pedal edema, Pathologic f...	ORPHA:77259
Omodysplasia 2	Short humerus, Posteriorly rotated ears, Micrognathia, Fibular hypoplasia, Limited elbow flexion/...	OMIM:164745
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Campomelic Dysplasia	Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Recurrent fractur...	ORPHA:140
Estrogen Resistance Syndrome	Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline...	ORPHA:785
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Iris coloboma, Sclerocornea, Hearing impairment	ORPHA:77298
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets, Corneal crystals	OMIM:219900
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ...	OMIM:263520
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta...	OMIM:108720
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le...	OMIM:300009
Chronic Bilirubin Encephalopathy	Conjunctival icterus, Abnormal conjunctiva morphology, Abnormal auditory evoked potentials, Senso...	ORPHA:529808
Acute Bilirubin Encephalopathy	Conjunctival icterus, Abnormal conjunctiva morphology, Abnormal auditory evoked potentials, Senso...	ORPHA:529799
X-Linked Recessive Ocular Albinism	Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation	ORPHA:54
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Cystinosis	Rickets, Corneal opacity	ORPHA:213
Cockayne Syndrome B	Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci...	OMIM:133540
Cutis Marmorata Telangiectatica Congenita	Short lower limbs, Leukocoria, Bowing of the legs	OMIM:219250
De Barsy Syndrome	Osteopenia, Cataract, Corneal opacity, Congenital hip dislocation, Generalized joint laxity, Tali...	ORPHA:2962
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Central heterochromia, Micrognathia, Abnormal pupil morphology, ...	ORPHA:233
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Micrognathia, Brushfield spots, Metatarsus adductus, Optic nerve dysplasia, Talipes equ...	OMIM:214110
Stromme Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Micrognathia, Preaxial polydactyly, Microcornea, ...	OMIM:243605
Chime Syndrome	Corneal opacity, Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocat...	ORPHA:3474
Oculodentodigital Dysplasia	Micrognathia, Microcornea, Clinodactyly of the 5th finger, Conductive hearing impairment, Finger ...	ORPHA:2710
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Cataract, Sclerocornea, Micrognathia, Sensorineural hearing impairm...	OMIM:614230
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Corneal opacity, Joint stiffness, Hypoplasia of the odontoid process, Metap...	OMIM:253200
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Fasting hyperinsulinemia, Hypoglycemic seizures, Hyp...	ORPHA:71212
Poems Syndrome	Sclerosis of hand bone, Papilledema, Sclerosis of foot bone, Metaphyseal sclerosis, Sclerosis of ...	ORPHA:2905
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers...	OMIM:610915
Mucopolysaccharidosis Type 1	Corneal opacity, Joint stiffness, Sensorineural hearing impairment, Split hand, Optic atrophy, Ab...	ORPHA:579
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Nongranulomatous uveitis, Cataract, Choroidal neovascularization, Anterior uveitis, ...	ORPHA:91500
Late-Infantile/Juvenile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Pes cavus, E...	ORPHA:206443
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, Corneal opacity, Sensorineural hearing impairment, Osteoporosis, 2-3...	ORPHA:488632
Osteopetrosis, Autosomal Recessive 3	Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis, Optic nerve compression	OMIM:259730
Mosaic Trisomy 1	Microretrognathia, Long toe, Broad toe, Toe syndactyly, Abnormal pinna morphology, Camptodactyly ...	ORPHA:1692
Osteogenesis Imperfecta	Osteopenia, Micromelia, Micrognathia, Osteoarthritis, Flexion contracture, Abnormal tibia morphol...	ORPHA:666
Weill-Marchesani Syndrome 2	Iridodonesis, Short metacarpal, Cataract, Joint stiffness, Lens luxation, Ectopia lentis, Broad m...	OMIM:608328
Lcat Deficiency	Corneal opacity	ORPHA:650
Trisomy 10P	Thumb contracture, Posteriorly rotated ears, Abnormal auditory evoked potentials, Micrognathia, E...	ORPHA:171929
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Joint contracture, Optic atrophy	OMIM:616881
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia	ORPHA:66518
Mosaic Trisomy 9	Corneal opacity, Camptodactyly of finger, Micromelia, Micrognathia, Rocker bottom foot, Limitatio...	ORPHA:99776
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Mixed hearing impairment, Cataract, Corneal opacity, Thickened helices...	ORPHA:581
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Cataract, Foot joint contracture, Optic atrophy, Uveitis, Co...	ORPHA:90321
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
Galactosialidosis	Conjunctival telangiectasia, Opacification of the corneal stroma, Hearing impairment	OMIM:256540
Hurler Syndrome	Corneal opacity, Camptodactyly of finger, Limitation of joint mobility, Narrow pelvis bone, Abnor...	ORPHA:93473
Facial Spasm	Anisocoria	OMIM:134300
Donohue Syndrome	Precocious puberty, Hyperinsulinemia, Severe failure to thrive, Pancreatic islet-cell hyperplasia...	OMIM:246200
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity	OMIM:602400
Woolly Hair	Abnormal pupil morphology, Cataract	ORPHA:170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Corneal opacity, Optic nerve hypoplasia, Micrognathia, Optic atrophy, Buphthalmos, Cong...	OMIM:236670
Acro-Renal-Mandibular Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapula...	ORPHA:958
Juvenile Glaucoma	Optic neuropathy, Abnormality iris morphology, Increased cup-to-disc ratio, Temporal optic disc p...	ORPHA:98977
Mend Syndrome	Cataract, Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Micrognathia, Long ...	ORPHA:401973
Hyperoxaluria, Primary, Type I	Increased bone mineral density, Choroidal neovascularization, Optic neuropathy, Optic atrophy, Pa...	OMIM:259900
Alstrom Syndrome	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimul...	OMIM:203800
Gaucher Disease	Osteopenia, Increased bone mineral density, Osteomyelitis, Corneal opacity, Recurrent fractures, ...	ORPHA:355
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Proximal lower limb amyotrophy, Optic nerve hypoplasia, Decr...	ORPHA:101085
Incontinentia Pigmenti	Finger syndactyly, Cataract, Corneal opacity, Camptodactyly of finger, Abnormal chorioretinal mor...	ORPHA:464
Perlman Syndrome	Hyperinsulinemia	ORPHA:2849
Tyrosinemia Type 2	Palmoplantar keratoderma, Corneal opacity	ORPHA:28378
Desmosterolosis	Posteriorly rotated ears, Rhizomelia, Micrognathia, Generalized osteosclerosis, Cupped ear, Bilat...	OMIM:602398
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose intolerance, Hyper...	OMIM:608612
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Mpi-Cdg	Failure to thrive, Hypothyroidism, Hyperinsulinemic hypoglycemia	ORPHA:79319
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Sclerocornea, Micrognathia, Aplasia/Hypoplasia of th...	ORPHA:3472
Congenital Disorder Of Glycosylation, Type Ib	Hyperinsulinemic hypoglycemia, Failure to thrive, Steatorrhea	OMIM:602579
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology, Aganglionic megacolon	ORPHA:2151
Blau Syndrome	Nongranulomatous uveitis, Cataract, Camptodactyly of finger, Band keratopathy, Synovitis, Uveitis...	OMIM:186580
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Cockayne Syndrome A	Hip contracture, Cataract, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decrea...	OMIM:216400
Congenital Muscular Dystrophy With Cerebellar Involvement	Calf muscle pseudohypertrophy, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris ...	ORPHA:370959
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Sclerosteosis 1	Papilledema, Syndactyly, Facial palsy, Sclerotic scapulae, Optic atrophy, 2-3 finger syndactyly, ...	OMIM:269500
Schimke Immuno-Osseous Dysplasia	Wide capital femoral epiphyses, Corneal opacity, Abnormal femoral head morphology, Hypoplastic pe...	ORPHA:1830
Congenital Disorder Of Glycosylation, Type Im	Failure to thrive, Hypoketotic hypoglycemia, Increased circulating free fatty acid level	OMIM:610768
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Posteriorly rotated ears, Hypoplastic scapulae, Micrognat...	OMIM:200980
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Brachydactyly, Corneal opacity, Aplasia of the distal phalanx of the 5th toe, Aplasia of the dist...	ORPHA:364577
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ...	ORPHA:2879
12Q14 Microdeletion Syndrome	Clinodactyly of the 5th finger, Osteopoikilosis, Micrognathia	ORPHA:94063
Fucosidosis	Corneal opacity, Hearing impairment	ORPHA:349
Axenfeld-Rieger Syndrome, Type 2	Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae, Hearing impairment	OMIM:601499
Late-Onset Retinal Degeneration	Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin...	ORPHA:67042
Acquired Generalized Lipodystrophy	Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia, Hyperinsulinemia	ORPHA:79086
Gomez-Lopez-Hernandez Syndrome	Low-set ears, Opacification of the corneal stroma, Posteriorly rotated ears, Craniosynostosis	OMIM:601853
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Optic disc pallor, Multiple joint contractures, Corneal opacity, Arachnodactyly, T...	ORPHA:464306
Atypical Werner Syndrome	Sclerosis of hand bone, Pes planus, Increased bone mineral density, Rocker bottom foot, Micrognat...	ORPHA:79474
Proteus-Like Syndrome	Cataract, Genu recurvatum, Lower limb asymmetry, Abnormal pupil morphology, Hyperostosis, Limbal ...	ORPHA:2969
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Osteolysis, Abnormal epiphysis morphology, Abnorma...	ORPHA:35687
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mel...	OMIM:151660
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Cataract, Posteriorly rotated ears, Rocker bottom foot, Ulnar deviation of the...	OMIM:214100
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Optic disc pallor, Corneal opacity, Ankle flexion contracture, Tapered finger, Short toe, Protrud...	ORPHA:464311
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Iris atrophy, Cataract, Recurrent fractures, Metaphyseal widening, Osteoporosis, Incr...	OMIM:259770
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Long ear, Aplasia/Hypop...	OMIM:276820
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Fabry Disease	Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Sensorineural hearing ...	ORPHA:324
Mucolipidosis Ii Alpha/Beta	Osteopenia, Micrognathia, Metaphyseal widening, Megalocornea, Hypoplasia of the odontoid process,...	OMIM:252500
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,...	ORPHA:99027
Congenital Disorder Of Deglycosylation 1	Corneal opacity, Osteoporosis, Small hand, Short foot, Corneal ulceration, Low-set ears, Decrease...	OMIM:615273
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti...	OMIM:304120
Fryns Syndrome	Low-set, posteriorly rotated ears, Aganglionic megacolon, Corneal opacity, Micrognathia, Clinodac...	ORPHA:2059
Oculocerebrorenal Syndrome Of Lowe	Low-set, posteriorly rotated ears, Cataract, Corneal opacity, Recurrent fractures, Osteomalacia, ...	ORPHA:534
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph...	ORPHA:206436
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Chorioretinal atrophy, Corneal crystals	OMIM:210370
Wilson Disease	Arthritis, Pathologic fracture, Kayser-Fleischer ring	ORPHA:905
Neurofibromatosis Type 1	Cataract, Corneal opacity, Recurrent fractures, Joint stiffness, Genu varum, Genu valgum, Slender...	ORPHA:636
Lipodystrophy, Congenital Generalized, Type 4	Failure to thrive, Insulin resistance, Hypertriglyceridemia, Hyperinsulinemia	OMIM:613327
Bartsocas-Papas Syndrome 1	Micrognathia, Flexion contracture, Hypoplastic iliac wing, Pterygium, Short phalanx of finger, Sy...	OMIM:263650
Schimke Immunoosseous Dysplasia	Osteopenia, Hypoplasia of the capital femoral epiphysis, Astigmatism, Talipes equinovarus, Latera...	OMIM:242900
Cystinosis, Adult Nonnephropathic	Corneal crystals	OMIM:219750
Leukocyte Adhesion Deficiency, Type Iii	Osteopetrosis	OMIM:612840
Williams Syndrome	Osteopenia, Micrognathia, Protruding ear, Clinodactyly of the 5th finger, Megalocornea, Joint lax...	ORPHA:904
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion contracture, S...	OMIM:268300
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal...	ORPHA:649
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Fibular aplasia	OMIM:112310
Wolf-Hirschhorn Syndrome	Low-set, posteriorly rotated ears, Hypoplastic pubic ramus, Arachnodactyly, Sclerocornea, Short h...	ORPHA:280
Meckel Syndrome	Low-set, posteriorly rotated ears, Bowing of the long bones, Cataract, Abnormal chorioretinal mor...	ORPHA:564
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, EEG abnormality, Pes cavus	ORPHA:206448
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Osteopetrosis	OMIM:618541
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal...	OMIM:180500
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Femur fracture, Optic atrophy, Osteopetrosis, Optic nerve co...	OMIM:612301
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Posteriorly rotated ears, Corneal opacity, Micrognathia, Aplasia of the distal phalanx of the 5th...	OMIM:608670
Lathosterolosis	Cataract, Toe syndactyly, Talipes, Micrognathia, Postaxial hand polydactyly, Microcornea, Postaxi...	ORPHA:46059
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Tangier Disease	Facial diplegia, Opacification of the corneal stroma	OMIM:205400
Mucopolysaccharidosis Type 2	Papilledema, Otosclerosis, Corneal opacity, Decreased nerve conduction velocity, Conductive heari...	ORPHA:580
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Wide distal femoral metaphysis, Postaxial hand polydactyly, Apla...	OMIM:269150
Microphthalmia, Syndromic 3	Vertebral fusion, Optic nerve aplasia, Cataract, Optic nerve hypoplasia, Sclerocornea, Missing ri...	OMIM:206900
Mosaic Variegated Aneuploidy Syndrome	Low-set, posteriorly rotated ears, Cataract, Corneal opacity, Micrognathia, Osteolysis, Clinodact...	ORPHA:1052
Limb Body Wall Complex	Duplication of hand bones, Corneal opacity, Broad hallux, Aplasia/hypoplasia involving bones of t...	ORPHA:2369
Galloway-Mowat Syndrome 1	Cataract, Micrognathia, Macrotia, Optic atrophy, Hand clenching, Hypoplasia of the iris, Talipes ...	OMIM:251300
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Corneal opacity, Bone cyst, Osteolysis, Iris coloboma	ORPHA:2396
Mandibuloacral Dysplasia With Type A Lipodystrophy	Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia...	OMIM:248370
Ablepharon Macrostomia Syndrome	Toe syndactyly, Corneal opacity, Camptodactyly of finger, Corneal erosion, Microtia, Atresia of t...	ORPHA:920
Pseudo-Torch Syndrome 1	Low-set ears, Microretrognathia, Cataract, Opacification of the corneal stroma	OMIM:251290
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Os...	ORPHA:667
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Otosclerosis, Corneal opacity, Camptodactyly of finger, Sensorineural hearing impair...	ORPHA:217085
Hec Syndrome	Abnormal pupil morphology, Developmental cataract	ORPHA:2119
Autosomal Dominant Cutis Laxa	Osteopenia, Joint laxity, Pes planus, Corneal opacity, Genu recurvatum, Hip dislocation, Talipes ...	ORPHA:90348
Kindler Epidermolysis Bullosa	Finger syndactyly, Corneal opacity, Camptodactyly of finger, Flexion contracture, Palmoplantar ke...	ORPHA:2908
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Otosclerosis, Corneal opacity, Camptodactyly of finger, Sensorineural hearing impair...	ORPHA:217093
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Hydrolethalus Syndrome 1	Abnormal pinna morphology, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, D...	OMIM:236680
Yunis-Varon Syndrome	Congenital hip dislocation, Sclerocornea, Micrognathia, Short metatarsal, Palmoplantar hyperkerat...	OMIM:216340
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of...	OMIM:208500
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Small for gestational age, Increased circulating free fatty acid level, Overweight, Obesity, Hypo...	ORPHA:26793
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris, Ectopia ...	OMIM:175780
Primary Hyperoxaluria	Optic disc pallor, Choroidal neovascularization, Recurrent fractures, Generalized osteosclerosis,...	ORPHA:416
Woodhouse-Sakati Syndrome	Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m...	ORPHA:3464
Peters Plus Syndrome	Low-set, posteriorly rotated ears, Microtia, second degree, Cataract, Corneal opacity, Toe syndac...	ORPHA:709
Hutchinson-Gilford Progeria Syndrome	Limitation of movement at ankles, High-frequency sensorineural hearing impairment, Corneal opacit...	ORPHA:740
Coats Disease	Leukocoria	OMIM:300216
Acromelic Frontonasal Dysplasia	Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia	ORPHA:1827
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Limbal dermoid, Sclerocornea	OMIM:613001
Osteopathia Striata With Cranial Sclerosis	Paranasal sinus hypoplasia, Posteriorly rotated ears, Facial palsy, Arachnodactyly, Micrognathia,...	OMIM:300373
Acrofrontofacionasal Dysostosis 1	Iris atrophy, Short metacarpal, Mixed hearing impairment, Optic atrophy, Acetabular dysplasia, Br...	OMIM:201180
Smith-Lemli-Opitz Syndrome	Sclerocornea, Micrognathia, Proximal placement of thumb, Talipes calcaneovalgus, Iris coloboma, L...	ORPHA:818
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cataract, Micrognathia, Brushfield spots, Metatarsus adductus, Sensorineural hearing impairment, ...	OMIM:614866
1Q41Q42 Microdeletion Syndrome	Talipes equinovarus, Abnormality iris morphology	ORPHA:250999
Lathosterolosis	Cataract, Toe syndactyly, Micrognathia, Postaxial hand polydactyly, Osteoporosis, Postaxial foot ...	OMIM:607330
Neonatal Marfan Syndrome	Long toe, Iridodonesis, Arachnodactyly, Ectopia lentis, Micrognathia, Long fingers, Flexion contr...	ORPHA:284979
Mogs-Cdg	Absent brainstem auditory responses, Sensorineural hearing impairment, Overlapping fingers, Optic...	ORPHA:79330
Gaucher Disease Type 3	Increased bone mineral density, Osteolysis, Increased susceptibility to fractures	ORPHA:77261
Collagenoma, Familial Cutaneous	Iris atrophy, Sensorineural hearing impairment	OMIM:115250
Mucoepithelial Dysplasia, Hereditary	Cataract, Keratoconjunctivitis, Opacification of the corneal stroma, Corneal neovascularization, ...	OMIM:158310
Apolipoprotein A-I Deficiency	Opacification of the corneal stroma	ORPHA:425
Wilson Disease	Osteomalacia, Decreased nerve conduction velocity, Osteoarthritis, Osteoporosis, Pedal edema, Kay...	OMIM:277900
Leprechaunism	Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyperaldosteronism, Recurrent infan...	ORPHA:508
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, Peters anomaly, Iris coloboma, Hearing impairment	OMIM:309801
Proboscis Lateralis	Aplasia/Hypoplasia of the maxilla, Cataract, Corneal opacity, Optic nerve hypoplasia, Optic disc ...	ORPHA:141099
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Palmoplantar keratoderma, Corneal opacity, Craniosynostosis	ORPHA:79396
Cranioectodermal Dysplasia 1	Joint laxity, Broad toe, Brachydactyly, Short humerus, Rhizomelia, Sagittal craniosynostosis, Bro...	OMIM:218330
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Corneal opacity, Corneal dystrophy, Optic nerve hypoplasia, Micrognathia, Buphthalmos, Keratoconj...	ORPHA:495875
Neurocardiofaciodigital Syndrome	Optic disc pallor, Syndactyly, Cataract, Sclerocornea, Polydactyly, Hearing impairment	OMIM:619869
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma	ORPHA:42775
Histiocytoid Cardiomyopathy	Megalocornea, Optic atrophy, Corneal opacity, Congenital aphakia	ORPHA:137675
Lipodystrophy, Congenital Generalized, Type 1	Diabetes mellitus, Hypertriglyceridemia, Decreased serum leptin, Hyperinsulinemia, Insulin-resist...	OMIM:608594
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Palmoplantar hyperkeratosis, Keratoconjunctivitis, Jo...	ORPHA:2907
Prader-Willi Syndrome	Failure to thrive in infancy, Hypogonadotropic hypogonadism, Decreased response to growth hormone...	OMIM:176270
Charge Syndrome	Hypoplasia of the ulna, Mixed hearing impairment, Cataract, Facial palsy, Down-sloping shoulders,...	OMIM:214800
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hyperinsulinemia, Hypoglycemia	ORPHA:230
Microphthalmia With Linear Skin Defects Syndrome	Corneal opacity, Chorioretinal dysplasia, Sclerocornea, Micrognathia, Abnormal earlobe morphology...	ORPHA:2556
Microphthalmia, Syndromic 6	Finger syndactyly, Brachydactyly, Toe syndactyly, Posteriorly rotated ears, Thumb contracture, Sc...	OMIM:607932
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Corneal opacity, Abnormal pinna morphology, Aplasia/Hypoplasia o...	OMIM:219000
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal pelvis bone morphology, Corneal opacity, Camptodactyly of finger, Aganglionic megacolon,...	ORPHA:2273
Xeroderma Pigmentosum	Conjunctival telangiectasia, Craniofacial hyperostosis, Cataract, Keratitis, Sensorineural hearin...	ORPHA:910
Orofaciodigital Syndrome Type 4	Finger syndactyly, Microtia, third degree, Posteriorly rotated ears, Camptodactyly of finger, Mic...	ORPHA:2753
Tangier Disease	Facial diplegia, Corneal opacity	ORPHA:31150
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Long toe, Short humerus, Cataract, Corneal opacity, Camptodactyly of finger, Posterio...	ORPHA:3455
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Decreased serum leptin, Hyperinsulinemia, Insulin-resistant diabetes mellit...	OMIM:269700
Oculoectodermal Syndrome	Lower limb asymmetry, Chorioretinal atrophy, Microcornea, Astigmatism, Opacification of the corne...	OMIM:600268
Kinsship Syndrome	Osteopenia, Pes planus, Micrognathia, Coxa valga, Hip dislocation, Fibular hypoplasia, Polydactyl...	OMIM:619297
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Tinnitus, Opacification of the corneal stroma, Hearing impairment	ORPHA:79280
Osteopetrosis With Renal Tubular Acidosis	Recurrent fractures, Micrognathia, Cranial nerve compression, Optic atrophy, Osteopetrosis, Condu...	ORPHA:2785
Linear Skin Defects With Multiple Congenital Anomalies 3	Sclerocornea	OMIM:300952
Fryns Syndrome	Microretrognathia, Prominent fingertip pads, Aganglionic megacolon, Rocker bottom foot, Proximal ...	OMIM:229850
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Low-set, posteriorly rotated ears, Mixed hearing impairment, Cataract, Brachydactyly, Micrognathi...	ORPHA:444077
Pierson Syndrome	Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris...	OMIM:609049
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Papilledema, Corneal opacity, Sensorineural hearing impairment, Pes cavus	ORPHA:2072
Gaucher Disease, Type Iiic	Pes cavus, Opacification of the corneal stroma	OMIM:231005
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia	OMIM:620185
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Micrognathia, Optic atrophy, Buphthalmos, EEG abnormality, Opacification of the corneal...	OMIM:253280
Steinert Myotonic Dystrophy	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	ORPHA:273
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Pes planus, Arachnodactyly, Abnormality iris morphology	ORPHA:91387
Turner Syndrome Due To Structural X Chromosome Anomalies	Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin...	ORPHA:99413
Turner Syndrome	Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin...	ORPHA:881
Mosaic Monosomy X	Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin...	ORPHA:99228
Monosomy X	Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin...	ORPHA:99226
Alopecia-Intellectual Disability Syndrome	Brachydactyly, Flexion contracture, Split hand, EEG abnormality, Macrotia, Hearing impairment	ORPHA:2850
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Aganglionic megacolon, Keratitis, Postaxial hand polydactyly, Hip dislocation, Ectrodactyly, Opac...	OMIM:308205
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	11 pairs of ribs, Optic nerve dysplasia, Opacification of the corneal stroma	OMIM:615287
Digeorge Syndrome	Sclerocornea, Micrognathia, Patellar dislocation, Low-set ears, Posterior embryotoxon	OMIM:188400
Alström Syndrome	Hypertriglyceridemia, Precocious puberty in females, Decreased response to growth hormone stimula...	ORPHA:64
Pmm2-Cdg	Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Insulin resista...	ORPHA:79318
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

X-ray

Adult LacZ

X-ray

X-ray

X-ray

Adult LacZ

X-ray

X-ray

Human diseases caused by Ahsg mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data