Gene Summary

Name:
alpha-2-HS-glycoprotein
Synonyms:
fetuin-A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
iris synechia Ahsgtm1.1(KOMP)Vlcg HOM   Early adult 9.07×10-05
short tibia Ahsgtm1.1(KOMP)Vlcg HOM Early adult 4.26×10-17
increased bone mineral density Ahsgtm1.1(KOMP)Vlcg HOM   Early adult 1.25×10-07
abnormal auditory brainstem response Ahsgtm1.1(KOMP)Vlcg HOM   Early adult 6.04×10-06
corneal opacity Ahsgtm1.1(KOMP)Vlcg HOM   Early adult 8.42×10-06

Download data as:  TSV  XLS

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Select physiological systems to view:
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 Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

Adult LacZ

LacZ Images Section

24 Images

X-ray

XRay Images Hind Leg and Hip

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Adult LacZ

LacZ Images Wholemount

6 Images

X-ray

XRay Images Forepaw

9 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.

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
Split hand, Hearing impairment, Macrotia, Flexion contracture, Brachydactyly, EEG abnormality 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 Similarity of
phenotypes
Matching phenotypes Source
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, Limitation of joint mobility, 1-5 finger syndactyly, Foot pol... ORPHA:93405
Corneal Dystrophy-Perceptive Deafness Syndrome
Sensorineural hearing impairment, Corneal dystrophy, Corneal opacity ORPHA:1490
Winchester Syndrome
Carpal osteolysis, Corneal opacity, Broad metacarpals, Generalized osteoporosis, Osteolysis invol... OMIM:277950
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... OMIM:240900
Osteochondrosis Of The Metatarsal Bone
Pedal edema, Flattened metatarsal heads, Abnormality of the third metatarsal bone, Arthritis, Str... ORPHA:564003
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Mueller-Weiss Syndrome
Equinovarus deformity, Fragmented, irregular epiphyses, Talipes calcaneovarus, Abnormality of the... ORPHA:566943
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Dermoids Of Cornea
Corneal opacity OMIM:304730
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Optic nerve dysplasia, Corneal stromal ... OMIM:617319
Sclerosteosis
Diaphyseal undertubulation, Optic atrophy, Abnormal cortical bone morphology, Craniofacial hypero... ORPHA:3152
Hyperostosis Corticalis Generalisata
Diaphyseal undertubulation, Cranial hyperostosis, Abnormal cortical bone morphology, Sensorineura... ORPHA:3416
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis, Dense metaphyseal bands, Metaphyseal dysplasia OMIM:615198
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure... ORPHA:99886
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia... ORPHA:293964
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Femoral bowing, Tibial bowing, Cortical thickening of long bone d... OMIM:166740
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Galactosialidosis
Hearing impairment, Corneal opacity ORPHA:351
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Osteopoikilosis, Lower limb asymmetry OMIM:166700
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Van Buchem Disease
Cranial hyperostosis, Optic atrophy from cranial nerve compression, Increased bone mineral densit... OMIM:239100
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large fo... OMIM:256450
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... OMIM:127300
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density, Pedal edema ORPHA:75325
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... ORPHA:2790
Flynn-Aird Syndrome
Increased bone mineral density, Progressive sensorineural hearing impairment, Osteoporosis, Joint... OMIM:136300
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal metaphysis morphology, Reduced bone mineral density, Clinodactyly of the 5th finger, Abn... ORPHA:2370
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia OMIM:246570
Ophthalmomandibulomelic Dysplasia
Ulnar deviated club hands, Abnormality of bone mineral density, Limitation of joint mobility, Syn... ORPHA:2741
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Abnormal femur morphology, Tarsal sclerosis, Abnormal long bo... ORPHA:166119
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Childhood-onset truncal obesity, Hyperinsulinemia, Obesity, Type II diabete... ORPHA:71529
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy, Sensorineural hearing impairment OMIM:217400
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R... OMIM:249700
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co... OMIM:600955
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestati... OMIM:601820
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Dense metaphyseal bands, Erlenmeyer flask deformity of the femurs, Cortical sclero... OMIM:611497
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Weill-Marchesani Syndrome 4
Iridodonesis, Phakodonesis, Joint stiffness, Ectopia lentis, Shallow anterior chamber, Brachydact... OMIM:613195
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... ORPHA:1972
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli... ORPHA:240
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated... OMIM:605274
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Iridocorneal Endothelial Syndrome
Polycoria, Iris nevus, Posterior synechiae of the anterior chamber, Corneal stromal edema, Iris a... ORPHA:64734
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Anterior Segment Dysgenesis 5
Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Developmental catarac... OMIM:604229
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Cataract 21, Multiple Types
Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, I... OMIM:610202
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Otopalatodigital Syndrome Type 1
Abnormal metacarpal morphology, Proximal placement of thumb, Sandal gap, Short hallux, Increased ... ORPHA:90650
Thiel-Behnke Corneal Dystrophy
Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop... ORPHA:98960
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Increased bone mineral density, Facial palsy, Hearing impairment, Craniosynostosis ORPHA:178377
Brachyolmia Type 1, Hobaek Type
Short iliac bones, Osteopenia, Flattened proximal radial epiphyses, Short long bone, Flat acetabu... OMIM:271530
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Lattice Corneal Dystrophy Type I
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... ORPHA:98964
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Increased bone mineral density, Sensorineural hearing impairme... OMIM:241520
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Mietens Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal fibula morphology, Talipes, Clinodacty... ORPHA:2557
Eiken Syndrome
Fibular hypoplasia, Abnormal bone ossification, Delayed epiphyseal ossification, Abnormal acetabu... ORPHA:79106
Morquio Syndrome C
Corneal opacity OMIM:252300
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Obesity, Increased serum leptin, Insulin ... OMIM:617885
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Corneal dystrophy, Map-dot-fingerprint corneal dystrophy OMIM:121820
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Abnormal pelvic girdle bone ... OMIM:607634
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Popliteal pterygium, F... ORPHA:3329
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Tal... OMIM:601382
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli... ORPHA:411593
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Mucolipidosis Type Iii
Reduced bone mineral density, Abnormal hip bone morphology, Craniofacial hyperostosis, Large ilia... ORPHA:577
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Sensorineural hearing impairment, Corneal opacity, Posterior embryotoxon, Choriore... ORPHA:1473
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Megalocornea, ... OMIM:164900
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Mody
Large for gestational age, Neonatal hypoglycemia, Hypoinsulinemia, Abnormal circulating insulin c... ORPHA:552
Posterior Polymorphous Corneal Dystrophy
Astigmatism, Chorioretinal degeneration, Corneal stromal edema, Corneal opacity, Abnormal Desceme... ORPHA:98973
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Developmental cataract, Posterior synechiae of the anterior chamber OMIM:616722
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Iris transillumination defect, Osteopetrosis, Clinodactyly of the 5th finger, Increased bone mine... OMIM:617306
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglycemia, Abnormality of the pancr... OMIM:606762
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con... OMIM:180550
Osteopetrosis, Autosomal Dominant 2
Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Facial palsy... OMIM:166600
Intermediate Osteopetrosis
Optic atrophy from cranial nerve compression, Abnormality of bone mineral density, Recurrent frac... ORPHA:210110
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Congenital Hereditary Endothelial Dystrophy Type Ii
Sensorineural hearing impairment, Corneal stromal edema, Corneal opacity, Abnormal Descemet membr... ORPHA:293603
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Craniodiaphyseal Dysplasia, Autosomal Dominant
Optic atrophy, Craniofacial hyperostosis, Diaphyseal sclerosis, Facial diplegia, Cortical scleros... OMIM:122860
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance OMIM:610947
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormality of bone mineral density, Coxa vara, Broad femoral neck, A... ORPHA:2114
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Optic atrophy, Sensorineural hearing impairment, Iris cyst OMIM:620086
Stickler Syndrome Type 2
Cataract, Sensorineural hearing impairment, Corneal opacity ORPHA:90654
Lethal Recessive Chondrodysplasia
Short long bone, Flared elbow metaphyses, Micromelia, Micrognathia, Limb undergrowth, Generalized... ORPHA:1423
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea OMIM:217300
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short... OMIM:612447
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Limb undergrowth, Abnormal limb bone morphology, Abnormal cortica... ORPHA:2204
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Genu valgum, Fibular bowing, Generalized bone demineralization, Rickets of the lower lim... OMIM:600785
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal opacity, Corneal erosion OMIM:608470
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap... OMIM:135750
Multicentric Carpotarsal Osteolysis Syndrome
Ankle swelling, Metacarpal osteolysis, Pes cavus, Osteopenia, Carpal osteolysis, Ulnar deviation ... OMIM:166300
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Diastrophic Dysplasia
Abnormal metaphysis morphology, Short finger, Proximal placement of thumb, Abnormal metacarpal mo... ORPHA:628
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Sensorineural hear... OMIM:144750
Al-Gazali Syndrome
Osteopenia, Broad distal phalanx of finger, Bowed humerus, Proximal radio-ulnar synostosis, Corne... OMIM:609465
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Hypertriglyceridemia 1
Hypertriglyceridemia, Hypopituitarism, Glucose intolerance OMIM:145750
Anterior Segment Dysgenesis 3
Abnormal iris vasculature, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Posterior e... OMIM:601631
Congenital Primary Aphakia
Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, C... ORPHA:83461
Brittle Cornea Syndrome 2
Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Hearing impairment, Scleroc... OMIM:614170
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber OMIM:618880
Melorheostosis
Increased bone mineral density, Arthritis, Hyperostosis, Lower limb asymmetry, Joint stiffness, E... ORPHA:2485
Trichothiodystrophy 6, Nonphotosensitive
Pes cavus, Increased bone mineral density, Microcornea, Bilateral sensorineural hearing impairmen... OMIM:616943
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low... ORPHA:93356
Autosomal Recessive Spastic Paraplegia Type 44
Pes cavus, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of ... ORPHA:320401
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... ORPHA:988
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Low-set ears, Micrognath... OMIM:201170
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Blount Disease
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysi... ORPHA:2768
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Persistent pupillary membrane, Uveitis, Shallow anterior chamber, L... OMIM:221900
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Spondyloepiphyseal Dysplasia Tarda
Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyses, Abnormally os... ORPHA:93284
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... OMIM:119100
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Ocular anterior segment dysgenesis, Band keratopathy, Abnormal pinna morphology, Optic disc pallo... OMIM:614195
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Abnormal femoral neck/head morphology, Crumpled long bones, Abnormal lower limb bone ... ORPHA:2788
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Granular Corneal Dystrophy Type Ii
Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube... ORPHA:98963
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Craniometaphyseal Dysplasia
Abnormal metaphysis morphology, Osteopetrosis, Craniofacial hyperostosis, Abnormal cranial nerve ... ORPHA:1522
Albers-Schönberg Osteopetrosis
Abnormal metaphysis morphology, Optic atrophy, Genu valgum, Abnormal metacarpal morphology, Gener... ORPHA:53
Distal Deletion 6P
Abnormal anterior chamber morphology, Clinodactyly of the 5th finger, Corneal opacity, Low-set ea... ORPHA:96125
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Abnormal femoral neck/head morphology, Hemiatrophy of upper limb, Inc... ORPHA:163649
Deafness, Autosomal Recessive 108
Congenital sensorineural hearing impairment, Iris coloboma OMIM:617654
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Brachyolmia Type 1, Toledo Type
Broad tibial metaphyses, Precocious costochondral ossification, Opacification of the corneal stro... OMIM:271630
Slc35A2-Cdg
Osteopenia, Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Craniosynostosis... ORPHA:356961
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Abnormal au... OMIM:601559
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Short long bone, Short ribs, Corneal opacity, Coarse metaphyseal trabecularization, Metaphyseal w... OMIM:618961
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Absent distal phalanges, Corneal opacity, Low-set ears, ... OMIM:619339
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, EEG abnormality, Corneal opacity, Flexion contracture OMIM:618815
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
2Q24 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Abnormality iris morphology, Bullet-shaped distal phalanx of t... ORPHA:1617
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:66628
Axenfeld-Rieger Syndrome, Type 3
Sensorineural hearing impairment, Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae... OMIM:602482
Oculoauricular Syndrome
Short mandibular rami, Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Microcornea, C... OMIM:612109
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ... OMIM:136800
Familial Tumoral Calcinosis
Calcification of muscles ORPHA:53715
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia OMIM:618406
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Maternal diabetes, Diffuse pa... ORPHA:276580
Chondrodysplasia, Blomstrand Type
Flared metaphysis, Generalized osteosclerosis, Short ribs, Micromelia, Micrognathia, Advanced tar... OMIM:215045
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:179494
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Alpha-Mannosidosis
Chronic otitis media, Craniofacial hyperostosis, Arthritis, Abnormal helix morphology, Corneal op... ORPHA:61
Paget Disease Of Bone 3
Hearing impairment, Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71526
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Bilateral talipes equinovarus, Atresia of the external auditory canal, Mesomelia, Limb undergrowt... OMIM:601356
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Corneal... ORPHA:171673
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Rieger anomaly, Abnormally... OMIM:109120
Erythrokeratodermia Variabilis
Protruding ear, Corneal opacity, Hearing impairment, Patchy palmoplantar hyperkeratosis, Brachyda... ORPHA:317
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Diaphyseal cortical sclerosis, Osteopenia, Metaphyseal striations, Fractures of the long bones, P... OMIM:112250
Osteogenesis Imperfecta, Type Xiii
Protruding ear, Reduced bone mineral density, Limitation of knee mobility, Wide distal femoral me... OMIM:614856
Gómez-López-Hernández Syndrome
Low-set ears, Corneal opacity ORPHA:1532
Hurler-Scheie Syndrome
Corneal opacity, Sensorineural hearing impairment, Limitation of joint mobility, Abnormal nerve c... ORPHA:93476
Osteopetrosis, Autosomal Recessive 9
Osteopetrosis, Increased bone mineral density, Cortical sclerosis, Papilledema, Pathologic fracture OMIM:620366
Orofaciodigital Syndrome Iv
Short finger, Low-set ears, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognath... OMIM:258860
Multicentric Osteolysis, Nodulosis, And Arthropathy
Ankylosis of feet small joints, Thin metacarpal cortices, Corneal opacity, Wrist flexion contract... OMIM:259600
Dysosteosclerosis
Abnormal metaphysis morphology, Optic atrophy, Craniofacial hyperostosis, Increased bone mineral ... ORPHA:1782
Granular Corneal Dystrophy Type I
Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ... ORPHA:98962
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased body weight, Hyperins... ORPHA:276608
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Femoral bowing, Short long bone, Short metacarpal, Tibial bowing, C... OMIM:608940
Obesity And Hypopigmentation
Obesity, Hyperinsulinemia OMIM:620195
Sialidosis Type 2
Corneal opacity, Osteoporosis, Hearing impairment, Flexion contracture, Pedal edema ORPHA:87876
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Fixed elbow flexion, Small epiphyses, Delayed epiphy... ORPHA:166016
Obesity Due To Sim1 Deficiency
Obesity, Hyperinsulinemia, Glucose intolerance ORPHA:369873
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Dysosteosclerosis
Short ribs, Broad femoral neck, Hypoplastic vertebral bodies, Absent paranasal sinuses, Optic atr... OMIM:224300
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Flared metaphysis, Increa... OMIM:259700
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Insulin-resis... ORPHA:280356
Ghosal Hematodiaphyseal Dysplasia
Increased bone mineral density, Diaphyseal dysplasia, Hyperostosis cranialis interna, Myelofibrosis OMIM:231095
Caffey Disease
Subperiosteal bone formation, Calvarial hyperostosis, Tibial bowing, Periosteal thickening of lon... OMIM:114000
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Narrow greater sciatic notch, Rhizomelia, Flared metaphysis, Short long bone, Metaphyseal spurs, ... ORPHA:85167
Spondyloepiphyseal Dysplasia, Maroteaux Type
Genu valgum, Generalized osteoporosis, Short palm, Short femoral neck, Opacification of the corne... OMIM:184095
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral ... OMIM:620076
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Fuchs Endothelial Corneal Dystrophy
Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of... ORPHA:98974
Macular Corneal Dystrophy
Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy... ORPHA:98969
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Short tubular bones of the hand, Osteopenia, Abnormal foot morphology, Abnormal diaphysis morphol... ORPHA:85184
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Broad finger, Astigmatism, Abnormal auditory evoked potentials, Abnormality of visual evoked pote... OMIM:617523
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ... ORPHA:79644
Microphthalmia With Limb Anomalies
Sandal gap, Short long bone, Tibial bowing, Broad thumb, Joint hypermobility, Hip dislocation, Op... ORPHA:1106
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Microcephaly-Micromelia Syndrome
Oligodactyly, Low-set ears, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosi... OMIM:251230
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Dermochondrocorneal Dystrophy
Corneal dystrophy, Subepithelial corneal opacities, Anterior cortical cataract, Irregular tarsal ... OMIM:221800
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Osteopetrosis, Increased bone mineral density, Facial palsy, Recurrent fractures, ... OMIM:611490
Norrie Disease
Optic atrophy, Buphthalmos, Sensorineural hearing impairment, Corneal opacity, Hypoplasia of the ... OMIM:310600
Gnathodiaphyseal Dysplasia
Diaphyseal cortical sclerosis, Osteopenia, Bowing of the long bones, Osteomyelitis, Increased sus... OMIM:166260
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Cysticercosis
Calcification of muscles, Cerebral calcification, Abnormal skeletal muscle morphology ORPHA:1560
Charcot-Marie-Tooth Disease, Type 4D
Pes cavus, Decreased nerve conduction velocity, Claw hand deformity, Hammertoe, Sensorineural hea... OMIM:601455
Phacoanaphylactic Uveitis
Abnormal corneal endothelium morphology, Hypopyon, Corneal stromal edema, Posterior uveitis, Ante... ORPHA:209959
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Bilateral Acute Depigmentation Of The Iris
Abnormal anterior chamber morphology, Abnormal corneal endothelium morphology, Iris pigment dispe... ORPHA:69736
Robin Sequence With Cleft Mandible And Limb Anomalies
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... OMIM:268305
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Diffuse pancreatic islet hype... ORPHA:276575
Microphthalmia With Brain And Digit Anomalies
Proximal placement of thumb, Finger syndactyly, Sensorineural hearing impairment, Microcornea, Sc... ORPHA:139471
Epithelial Recurrent Erosion Dystrophy
Recurrent corneal erosions, Corneal dystrophy, Subepithelial corneal opacities, Corneal scarring,... ORPHA:293381
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Short long bone, Joint hypermobility, Genu varum, Long fibula, Wide femoral metaphysis, Short pal... ORPHA:2502
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Osteopathia Striata-Cranial Sclerosis Syndrome
Abnormal metaphysis morphology, Osteopetrosis, Increased bone mineral density, Large iliac wing, ... ORPHA:2780
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Popliteal pterygium, Patellar hypoplasia, Low-set ears, Absent tibia, Bilateral talipes equinovar... OMIM:119800
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Sensorineural hearing impairment, Facial palsy, Absent brainstem audit... OMIM:617519
Pelvis-Shoulder Dysplasia
Clinodactyly of the 5th finger, Hypoplastic acetabulae, Short clavicles, Hypoplastic ilia, Congen... OMIM:169550
Short Syndrome
Abnormal anterior chamber morphology, Sensorineural hearing impairment, Corneal opacity, Megaloco... ORPHA:3163
Traboulsi Syndrome
Short finger, Spherophakia, Phakodonesis, Iris atrophy, Cataract, Arachnodactyly, Ectopia lentis,... OMIM:601552
X-Linked Hypophosphatemia
Reduced bone mineral density, Sensorineural hearing impairment, Flared iliac wing, Abnormal epiph... ORPHA:89936
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Small for gestational age, Precocious puberty, Hyperglyce... OMIM:262190
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Mucolipidosis Iv
Optic atrophy, Opacification of the corneal stroma, Corneal opacity OMIM:252650
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... OMIM:107250
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange... ORPHA:2378
Aniridia 2
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma OMIM:617141
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Sensorineural hearing impairment, Microcornea, Iris hypopigmentation, Anterior synechiae of the a... ORPHA:3214
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... ORPHA:289176
Otopalatodigital Syndrome Type 2
Developmental glaucoma, Abnormal pinna morphology, Flared iliac wing, Hypoplastic frontal sinuses... ORPHA:90652
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
Bartsocas-Papas Syndrome
Popliteal pterygium, Talipes, Finger syndactyly, Corneal opacity, Synostosis of joints, Aplasia/H... ORPHA:1234
Mucopolysaccharidosis, Type Ivb
Genu valgum, Corneal opacity, Osteoporosis, Bilateral talipes equinovarus, Joint stiffness, Heari... OMIM:253010
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Atelosteogenesis Type Iii
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Laryngotra... ORPHA:56305
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Cranial hyperostosis, Osteopetrosis, Genu valgum, Diaphyseal sclerosis, Recurrent ... OMIM:259710
Omodysplasia 1
Limited elbow extension, Popliteal pterygium, Fibular hypoplasia, Limited knee flexion/extension,... OMIM:258315
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Hyperinsulinemia, Maternal diabetes, Hyperglycemia, Type II diabetes mellit... OMIM:604367
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal stromal edema, Corneal dystrophy, Corneal guttata, Abnormal Descemet membrane morphology,... OMIM:613270
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Sensorineural hearing impairment, Bowing of the long ... OMIM:239000
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Congenital Insensitivity To Pain With Severe Intellectual Disability
Rocker bottom foot, Corneal erosion, Congenital bilateral hip dislocation, Tibial bowing, Microgn... ORPHA:453510
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Developmental glaucoma, Aniridia, Corneal opacity, Micrognathia, Craniosynostosis ORPHA:1064
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... ORPHA:931
Multiple Sulfatase Deficiency
Optic atrophy, Sensorineural hearing impairment, Corneal opacity, Broad thumb, Joint stiffness, C... ORPHA:585
Harel-Yoon Syndrome
Optic atrophy, Corneal opacity, Micrognathia, Developmental cataract, Hip dysplasia, Talipes equi... OMIM:617183
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Protruding ear, Astigmatism, Myopic astigmatism, Microcornea, Corneal opacity, Cho... OMIM:152950
Congenital Rubella Syndrome
Abnormal metaphysis morphology, Sensorineural hearing impairment, Corneal opacity, Cataract, Apla... ORPHA:290
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Rhizomelia, Sandal gap, Sensorineural hearing impairment, Abnormal pinn... OMIM:607143
Ectopia Lentis Et Pupillae
Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C... OMIM:225200
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Dyschondrosteosis-Nephritis Syndrome
Ulnar bowing, Corneal opacity, Micromelia, Aplasia/Hypoplasia of the radius, Radial bowing ORPHA:1765
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal dystrophy, Corneal scarring OMIM:602082
Pseudohypoparathyroidism Type 1B
Diaphyseal sclerosis, Increased bone mineral density, Cortical subperiosteal resorption of humera... ORPHA:94089
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared m... OMIM:602111
Blomstrand Lethal Chondrodysplasia
Rhizomelia, Flared metaphysis, Metaphyseal cupping, Increased bone mineral density, Short ribs, L... ORPHA:50945
Charcot-Marie-Tooth Disease, Type 4C
Pes cavus, Delayed brainstem auditory evoked response conduction time, Hammertoe, Abnormal crania... OMIM:601596
Craniometaphyseal Dysplasia, Autosomal Dominant
Cranial hyperostosis, Mixed hearing impairment, Calvarial osteosclerosis, Flared metaphysis, Faci... OMIM:123000
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Charcot-Marie-Tooth Disease Type 1B
Hearing impairment, Decreased nerve conduction velocity, Abnormal pupil morphology ORPHA:101082
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Corneal dystrophy, Ectopia pupillae, Corneal guttata OMIM:609141
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly OMIM:258865
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Cutis Laxa, Autosomal Dominant 3
Osteopenia, Protruding ear, Corneal opacity, Low-set ears, Developmental cataract, Joint hypermob... OMIM:616603
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Scheie Syndrome
Abnormal nerve conduction velocity, Sensorineural hearing impairment, Corneal opacity, Limitation... ORPHA:93474
Intermediate Uveitis
Cataract, Band keratopathy, Posterior synechiae of the anterior chamber, Anterior uveitis ORPHA:279914
Mucopolysaccharidosis Type 4
Abnormal metaphysis morphology, Genu valgum, Reduced bone mineral density, Corneal opacity, Bowin... ORPHA:582
Oculomaxillofacial Dysostosis
Corneal opacity, Abnormality of the humerus, Camptodactyly of finger, Micrognathia, Brachydactyly... ORPHA:1794
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... OMIM:113310
Neovascular Glaucoma
Abnormal anterior chamber morphology, Corneal stromal edema, Rubeosis iridis, Conjunctival hypere... ORPHA:94058
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ... OMIM:610532
Insulinoma
Hyperinsulinemia, Neoplasm of the adrenal gland, Increased body weight, Primary hyperparathyroidi... ORPHA:97279
Oculocerebrocutaneous Syndrome
Talipes, Finger syndactyly, Abnormal pinna morphology, Corneal opacity, Missing ribs, Congenital ... ORPHA:1647
Carpenter Syndrome 1
Sensorineural hearing impairment, Abnormal pinna morphology, Flared iliac wing, Duplication of th... OMIM:201000
Pycnodysostosis
Short finger, Rhizomelia, Generalized osteosclerosis, Increased bone mineral density, Hypoplastic... ORPHA:763
Femoral-Facial Syndrome
Abnormal fibula morphology, Microtia, Low-set ears, Abnormal pelvic girdle bone morphology, Coxa ... ORPHA:1988
Idiopathic Panuveitis
Cataract, Conjunctival hyperemia, Posterior synechiae of the anterior chamber, Choroidal neovascu... ORPHA:280921
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Abnormal anterior chamber morphology, Iridodonesis, Astigmatism, Protruding ear, Sens... ORPHA:2479
Weismann-Netter Syndrome
Fibular bowing, Anterior tibial bowing, Calvarial hyperostosis, Lateral femoral bowing, Squared i... OMIM:112350
3Q29 Microduplication Syndrome
Aniridia, Craniosynostosis, Sandal gap, Low-set ears, Camptodactyly of toe, Hearing impairment, S... ORPHA:251038
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Developmental cataract, Flexion contracture, Posterior synechiae of the anterior c... OMIM:613154
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Recurrent otitis media, Microtia, Corneal opacity, Micrognathia, Keratitis, Posteriorly rotated e... OMIM:602562
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche OMIM:616033
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Unicoronal sy... OMIM:616300
Galactokinase Deficiency
Hyperinsulinemia, Hypergonadotropic hypogonadism, Failure to thrive, Hypoglycemia, Hypercholester... ORPHA:79237
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Pes cavus, Temporal optic disc pallor, Sensorineural hearing impairment, Absent br... ORPHA:1215
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Large for gestational age, Diffuse pancreatic islet hyperplasia, Hypoketot... ORPHA:276556
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Fused cervical vertebrae, Low-set, posteriorly r... ORPHA:3320
Kniest Dysplasia
Recurrent otitis media, Rhizomelia, Flared metaphysis, Splayed epiphyses, Delayed epiphyseal ossi... OMIM:156550
Camurati-Engelmann Disease
Genu valgum, Optic nerve compression, Diaphyseal sclerosis, Increased bone mineral density, Corti... OMIM:131300
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Irregular epiphyses, Hip osteoarthritis, Hypoplastic iliac wing, Limitation of joint mobility, Co... OMIM:313400
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Ichthyosis, X-Linked
Palmoplantar keratoderma, Opacification of the corneal stroma OMIM:308100
Sanjad-Sakati Syndrome
Astigmatism, Low-set, posteriorly rotated ears, Abnormal pinna morphology, Corneal opacity, Patch... ORPHA:2323
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, Optic nerve hypoplasia, Corneal opacity, Micrognathia, Hip dysplasia, Cataract, Po... ORPHA:496790
Solitary Fibrous Tumor
Hypoglycemia, Hypoinsulinemia, Weight loss, Recurrent hypoglycemia ORPHA:2126
Spondylodysplastic Ehlers-Danlos Syndrome
Subluxation of the small joints of the hand, Abnormal femoral head morphology, Abnormal finger mo... ORPHA:536471
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... OMIM:227270
Zellweger Syndrome
Abnormal chorioretinal morphology, Optic atrophy, Epiphyseal stippling, Sensorineural hearing imp... ORPHA:912
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis, Buphthalmos OMIM:251750
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Cranial hyperostosis, Hip subluxation, Osteopetrosis, Mydriasis, Flared metaphysis... OMIM:259720
Mucolipidosis Type Iv
Genu recurvatum, EEG abnormality, Palmoplantar keratoderma, Corneal opacity ORPHA:578
Chondrodysplasia-Difference Of Sex Development Syndrome
Abnormal shoulder morphology, Short metacarpal, Abnormal pelvic girdle bone morphology, Micromeli... ORPHA:1422
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Alpha-Mannosidosis, Adult Form
Osteopenia, Mixed hearing impairment, Corneal opacity, Cataract, Optic disc pallor ORPHA:309288
Hereditary Bullous Dystrophy, Macular Type
Cataract, Short finger, Corneal opacity, Tapered finger ORPHA:1867
Pseudohypoparathyroidism Type 1A
Short 4th metacarpal, Reduced bone mineral density, Short metatarsal, Increased bone mineral dens... ORPHA:79443
Tibial Hemimelia
Absent tibia OMIM:275220
Neurotrophic Keratopathy
Recurrent corneal erosions, Astigmatism, Corneal ulceration, Corneal stromal edema, Corneal scarr... ORPHA:137596
Arthrogryposis, Distal, Type 2A
Rocker bottom foot, Joint contracture of the hand, Flexion contracture of toe, Shoulder flexion c... OMIM:193700
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Micrognathia, Low-set, posteriorly rotated ears ORPHA:1237
Schnitzler Syndrome
Increased bone mineral density, Arthritis ORPHA:37748
Microphthalmia/Coloboma 9
Ocular anterior segment dysgenesis, Microcornea, Low-set ears, Macrotia, Sclerocornea, Iris coloboma OMIM:615145
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Rocker bottom foot, Astigmatism, Talipes equinovarus, Optic nerve hypoplasia, Postaxial hand poly... OMIM:301056
Bangstad Syndrome
Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g... ORPHA:1227
Myopathy, Tubular Aggregate, 1
Areflexia of lower limbs, Joint contracture, Flexion contracture, Hyporeflexia of lower limbs, Ab... OMIM:160565
Insensitivity To Pain, Congenital, With Anhidrosis
Recurrent corneal erosions, Postural hypotension with compensatory tachycardia, Corneal ulceratio... OMIM:256800
Olmsted Syndrome 1
Corneal opacity, Autoamputation of digits, Flexion contracture, Palmoplantar keratoderma, Opacifi... OMIM:614594
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired glucose tole... OMIM:615363
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Corneal opacity, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hyp... OMIM:274000
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
8Q21.11 Microdeletion Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Corneal opacity, Low-set ears, Hearing impairm... ORPHA:284160
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Irregular epiphyses, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Catar... OMIM:619260
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Genu valgum, Fibular bowing, Hypophosphatemic rickets, Cupped metaphyses of hand bones, ... OMIM:307800
Sympathetic Ophthalmia
Posterior uveitis, Anterior chamber cells, Hearing impairment, Corneal keratic precipitates, Papi... ORPHA:79098
Mucolipidosis Type Iii Alpha/Beta
Recurrent otitis media, Sensorineural hearing impairment, Corneal opacity, Joint stiffness, Gener... ORPHA:423461
Atopic Keratoconjunctivitis
Corneal neovascularization, Corneal opacity, Corneal scarring, Chemosis, Conjunctival hyperemia, ... ORPHA:163934
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short ribs, Sho... OMIM:613091
Premature Aging Syndrome, Penttinen Type
Slender long bone, Recurrent fractures, Corneal stromal edema, Tibial bowing, Osteolytic defects ... OMIM:601812
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o... OMIM:300554
Moebius Syndrome
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Corneal opaci... ORPHA:570
Gelatinous Drop-Like Corneal Dystrophy
Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacities, Central op... ORPHA:98957
Oculocerebral Hypopigmentation Syndrome, Cross Type
Abnormal thumb morphology, Sensorineural hearing impairment, Limitation of joint mobility, Cornea... ORPHA:2719
Cleidocranial Dysplasia 1
Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic ... OMIM:119600
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Astigmatism, Flexion contracture OMIM:270200
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Craniosynostosis OMIM:218550
Microphthalmia/Coloboma 12
Corneal opacity, Optic nerve aplasia, Chorioretinal coloboma, Optic disc coloboma, Peters anomaly OMIM:120200
Kenny-Caffey Syndrome, Type 2
Abnormality of the medullary cavity of the long bones, Increased bone mineral density, Papilledem... OMIM:127000
Pseudohypoparathyroidism Type 1C
Short 4th metacarpal, Short metatarsal, Increased bone mineral density, Short fifth metatarsal, B... ORPHA:79444
Orofaciodigital Syndrome Type 2
Protruding ear, Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger s... ORPHA:2751
Gorlin-Chaudhry-Moss Syndrome
Abnormal foot morphology, Astigmatism, Abnormal metacarpal morphology, Coronal craniosynostosis, ... ORPHA:2095
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the ankles, Tibial bowin... OMIM:600081
Sialidosis Type 1
Decreased nerve conduction velocity, Sensorineural hearing impairment, Corneal opacity, Cataract,... ORPHA:812
Schwartz-Jampel Syndrome
Flexion contracture of toe, Wrist flexion contracture, Abnormally ossified vertebrae, Joint stiff... ORPHA:800
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, A... OMIM:617925
Otospondylomegaepiphyseal Dysplasia
Flared femoral metaphysis, Fibular bowing, Abnormal long bone morphology, Sandal gap, Abnormal il... ORPHA:1427
Autoimmune Hypoparathyroidism
Increased bone mineral density, Cataract, Conjunctivitis ORPHA:36913
Hurler Syndrome
Diaphyseal undertubulation, Cranial hyperostosis, Recurrent otitis media, Short clavicles, Calvar... OMIM:607014
Mucolipidosis Iii Gamma
Genu valgum, Flat capital femoral epiphysis, Claw hand deformity, Shoulder contracture, Finger jo... OMIM:252605
Dysostosis, Stanescu Type
Abnormal metaphysis morphology, Increased bone mineral density, Bowing of the long bones, Microme... ORPHA:1798
Mucopolysaccharidosis Type 7
Diaphyseal undertubulation, Abnormal hip bone morphology, Epiphyseal stippling, Corneal opacity, ... ORPHA:584
Van Den Ende-Gupta Syndrome
Narrow foot, Dislocated radial head, Small earlobe, Short ribs, Femoral bowing, Arachnodactyly, S... OMIM:600920
Mosaic Trisomy 8
Deep plantar creases, Clinodactyly of the 5th finger, Abnormal antihelix morphology, Abnormal pin... ORPHA:96061
Lowry-Maclean Syndrome
Osteopenia, Developmental glaucoma, Corneal opacity, Megalocornea, Osteoporosis, Low-set ears, Mi... ORPHA:2409</