Gene Summary

Name:
hyaluronan mediated motility receptor (RHAMM)
Synonyms:
CD168,  Rhamm

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal retina outer nuclear layer morphology Hmmrtm1b(EUCOMM)Hmgu HOM   Early adult 1.06×10-09
decreased total retina thickness Hmmrtm1b(EUCOMM)Hmgu HOM   Early adult 1.01×10-06
increased bone mineral density Hmmrtm1b(EUCOMM)Hmgu HOM Early adult 4.64×10-05
preweaning lethality, incomplete penetrance Hmmrtm1b(EUCOMM)Hmgu HOM   Early adult 0.00
short tibia Hmmrtm1b(EUCOMM)Hmgu HOM Early adult 7.57×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
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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
Testis  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote 0.0% (0 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 1)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
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 0.83% (4 of 484)
aorta 0.21% (1 of 483)
bone 0.0%
brain 0.82% (4 of 485)
brainstem 0.41% (2 of 488)
brown adipose tissue 0.0%
cartilage tissue 0.2% (1 of 490)
cecum 2.93% (9 of 307)
cerebellum 0.63% (3 of 478)
cerebral cortex 0.41% (2 of 485)
esophagus 1.8% (6 of 333)
eye 0.0%
gall bladder 0.0%
heart 0.2% (1 of 494)
hippocampus 0.62% (3 of 486)
hypothalamus 0.41% (2 of 482)
kidney 3.31% (16 of 483)
large intestine 1.7% (8 of 470)
liver 0.0%
lower urinary tract 0.21% (1 of 480)
lung 0.21% (1 of 483)
lymph node 0.2% (1 of 488)
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.41% (2 of 482)
oral epithelium 0.0%
ovary 0.21% (1 of 484)
oviduct 0.0%
pancreas 0.82% (4 of 490)
parathyroid gland 0.21% (1 of 471)
peripheral nervous system 0.42% (2 of 472)
peyers patch 0.0%
pituitary gland 0.21% (1 of 468)
prostate gland 2.02% (10 of 494)
skeletal muscle 0.0%
skin 0.21% (1 of 481)
small intestine 1.63% (8 of 490)
spinal cord 0.42% (2 of 471)
spleen 0.63% (3 of 477)
stomach 1.82% (9 of 494)
striatum 0.62% (3 of 486)
testis 1.21% (6 of 495)
thymus 0.0%
thyroid gland 3.28% (16 of 488)
trachea 0.62% (3 of 481)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vas deferens 3.42% (11 of 322)
vascular system 0.0%
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.

Eye Morphology

VIP of left eye

17 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Eye Morphology

VIP of left fundus

17 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

Eye Morphology

VIP of right eye

17 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

Eye Morphology

VIP of right fundus

17 Images

Adult LacZ

LacZ Images Wholemount

1 Images

Human diseases caused by Hmmr 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 Hmmr by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Breast Cancer
OMIM:114480

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Fibular hypoplasia, Hypoplasia of the radius, Absent ossification of calv... OMIM:601376
Syndactyly Type 4
Toe syndactyly, Foot polydactyly, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Acromesomelic Dysplasia 2A
Acromesomelia, Pes valgus, Valgus hand deformity, Flexion contracture, Hypoplasia of the ulna, Fi... OMIM:200700
Pyknoachondrogenesis
Increased bone mineral density, Stillbirth OMIM:265880
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Osteochondrosis Of The Metatarsal Bone
Abnormality of the third metatarsal bone, Sclerosis of foot bone, Joint stiffness, Thickened cort... ORPHA:564003
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Fragmented, irregular ... ORPHA:566943
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Micromelia, Limb undergrowth, Short tibia, Short long... OMIM:118651
Sclerosteosis
Finger syndactyly, Increased bone mineral density, Craniofacial hyperostosis, Diaphyseal thickeni... ORPHA:3152
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Male hypogonadism, Polycystic ovaries, Decreased testicular size ORPHA:393
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density, Optic atrop... OMIM:239100
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Bowing of the long bones, Brachydactyly, Joint stiffness, Fibular hyp... ORPHA:2098
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Fibular... OMIM:201250
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses,... OMIM:607778
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency ORPHA:75325
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level, Irregular menstruation OMIM:311360
Osebold-Remondini Syndrome
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Fibular hypoplasia, Ty... OMIM:112910
Buschke-Ollendorff Syndrome
Flexion contracture, Osteopoikilosis, Joint stiffness OMIM:166700
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... ORPHA:85188
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea OMIM:300604
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Increased bone mineral density, Tibial bowing, Cortical thickening of long b... OMIM:166740
Premature Ovarian Failure 9
Premature ovarian insufficiency, Increased circulating gonadotropin level, Amenorrhea OMIM:615724
Ovarian Dysgenesis 2
Primary amenorrhea, Gonadal hypoplasia, Abnormality of the uterus, Secondary amenorrhea, Prematur... OMIM:300510
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Amenorrhea, Menorrhagia, Oligomenorrhea ORPHA:397685
Fibular Hemimelia
Fibular hypoplasia, Abnormal bone ossification, Limited knee flexion/extension, Short tibia, Shor... ORPHA:93323
Isolated Osteopoikilosis
Abnormal pelvis bone morphology, Joint stiffness, Abnormal pelvis bone ossification, Increased bo... ORPHA:166119
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral neck morphology,... OMIM:127300
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Hand oligodactyly, Tibial bowing, Foot oligodactyly, Fibular aplasia, Short tibia, Syndactyly OMIM:246570
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication OMIM:188740
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Fibular hypoplasia, Radial club hand, Sandal gap, Short 5th finger, Hypop... ORPHA:1972
Osteopetrosis, Autosomal Recessive 6
Cortical sclerosis of the iliac wing, Osteopetrosis, Dense metaphyseal bands, Erlenmeyer flask de... OMIM:611497
Langer Mesomelic Dysplasia
Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Microgn... OMIM:249700
Premature Ovarian Failure 5
Primary amenorrhea, Secondary amenorrhea, Reduced antral follicle count, Premature ovarian insuff... OMIM:611548
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Diaphyseal thickening, Abnormal cortical bone m... ORPHA:3416
Léri-Weill Dyschondrosteosis
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... ORPHA:240
Acheiropody
Aplasia of the phalanges of the hand, Absent radius, Peromelia, Aplasia of the tarsal bones, Abse... OMIM:200500
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Flynn-Aird Syndrome
Joint stiffness, Increased bone mineral density, Increased bone density with cystic changes, Oste... OMIM:136300
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Pseudoarthrosis, Short tibia OMIM:156230
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density, Optic atrophy ORPHA:178377
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Premature Ovarian Failure 16
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Reduced... OMIM:618723
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Eiken Syndrome
Metaphyseal irregularity, Abnormal fingertip morphology, Abnormal trabecular bone morphology, Sho... ORPHA:79106
Gonadoblastoma
Abnormality of the ovary, Ovarian gonadoblastoma, Gonadal calcification, Ambiguous genitalia, Fem... ORPHA:206484
Perrault Syndrome 6
Irregular menstruation, Primary amenorrhea, Streak ovary, Secondary amenorrhea, Premature ovarian... OMIM:617565
Gollop-Wolfgang Complex
Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Craniofacial hyperostosis, Diaphyseal thickening, Generalized osteosclerosi... ORPHA:2790
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Premature ovarian insufficiency ORPHA:2278
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Advanced tarsal ossification, Short ribs, Squared iliac bo... OMIM:215045
Osteomalacia, sclerosing, with cerebral calcification
Generalized osteosclerosis, Increased bone mineral density, Osteomalacia OMIM:259660
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Premature Ovarian Failure 7
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612964
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Bowing of the long bones, Hypoplastic frontal sinuses, Increased bone... ORPHA:90650
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Abnormal foot morphology, Fibular aplasia, Talipes equinovalgus, Short ti... OMIM:605274
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Craniodiaphyseal Dysplasia, Autosomal Dominant
Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Cortical sclerosis,... OMIM:122860
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Intermediate Osteopetrosis
Recurrent fractures, Erlenmeyer flask deformity of the femurs, Increased susceptibility to fractu... ORPHA:210110
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter, Premature ovarian insufficiency, Secondary amenorrhea OMIM:617175
Premature Ovarian Failure 6
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612310
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormality of epiphysis morphology, Broad femo... ORPHA:2114
Lethal Recessive Chondrodysplasia
Flared elbow metaphyses, Micrognathia, Generalized osteosclerosis, Micromelia, Limb undergrowth, ... ORPHA:1423
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Hypoplasia of the ulna, Fibular hypoplasia, Short tibia, Short femur, Aplasia/Hypop... OMIM:612447
Fowler Urethral Sphincter Dysfunction Syndrome
Amenorrhea, Polycystic ovaries, Abnormality of the ovary, Menorrhagia, Abnormality of the urethra... ORPHA:2795
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Premature Ovarian Failure 10
Primary amenorrhea, Azoospermia, Elevated circulating luteinizing hormone level, Elevated circula... OMIM:612885
Osteopetrosis, Autosomal Dominant 1
Abnormality of pelvic girdle bone morphology, Thickened cortex of long bones, Generalized osteosc... OMIM:607634
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Preaxial polydactyly, Mesomelic leg shortening, Oligodactyly, Micr... ORPHA:2756
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Brachydactyly, Hip osteoarthritis, Rhegmatogenous retinal detachment, Lattice retinal degeneratio... OMIM:619248
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, 3-4 finger... OMIM:619217
Laurin-Sandrow Syndrome
Absent radius, Absent tibia, Triphalangeal thumb, Hand polydactyly, Broad foot, Fibular duplicati... OMIM:135750
Melorheostosis
Joint stiffness, Increased bone mineral density, Ectopic ossification in muscle tissue, Hyperosto... ORPHA:2485
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Secondary amenorrhea, Ele... OMIM:619203
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density, Rickets OMIM:241520
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Genu varum, Bulging epiphyses, Metaphyseal irregularity, Sparse bone tr... OMIM:600785
Dysplastic Cortical Hyperostosis
Limb undergrowth, Abnormality of limb bone morphology, Abnormal cortical bone morphology, Increas... ORPHA:2204
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Hypergonadotropic hypogonadism, Ovarian cyst OMIM:613546
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Decreased fertility, Hypogonadotropic hypogonadism, Polycystic ovaries ORPHA:1643
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Premature Ovarian Failure 8
Primary amenorrhea, Elevated circulating luteinizing hormone level, Ovarian neoplasm, Elevated ci... OMIM:615723
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... ORPHA:3329
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis, Metaphyseal dysplasia OMIM:615198
Dyschondrosteosis And Nephritis
Ulnar bowing, Radial bowing, Short tibia, Short forearm OMIM:127350
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Premature ovarian insufficiency, Amenorrhea OMIM:619425
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:2138
Tibial Hemimelia
Radial club hand, Mesomelic leg shortening, Short tibia, Increased laxity of ankles, Hip dysplasi... ORPHA:93322
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Abnormality of fibula morphology, Ap... ORPHA:988
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, Cone-shaped epiphy... ORPHA:1505
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Abnormality of pelvic girdle bone morphology, Metacarpal diaphyseal endoste... OMIM:144750
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Flattened epiphysis, Knee osteoarthritis, Tibial bowing, Fl... ORPHA:93356
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Flattened epiphysis, Coxa valga, Increased bone mineral density, Hypopigmentation... ORPHA:163649
Albers-Schönberg Osteopetrosis
Recurrent fractures, Abnormality of epiphysis morphology, Optic atrophy, Osteoarthritis, Generali... ORPHA:53
Spondyloepiphyseal Dysplasia Tarda
Abnormality of the tibial plateaux, Arthralgia of the hip, Flattened femoral head, Abnormal shoul... ORPHA:93284
Ovarian Dysgenesis 9
Primary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follicle... OMIM:619665
Blount Disease
Abnormality of the proximal tibial epiphysis, Tibial bowing, Abnormality of the knee, Abnormality... ORPHA:2768
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Premature ovarian insufficiency, Elevated circula... OMIM:619146
Stuve-Wiedemann Syndrome 1
Talipes, Osteoporosis, Micrognathia, Short tibia, Bowing of the long bones, Metaphyseal rarefacti... OMIM:601559
Paget Disease Of Bone 5, Juvenile-Onset
Bowing of the long bones, Macular scar, Retinopathy, Osteopenia, Recurrent fractures, Increased b... OMIM:239000
Osteopetrosis, Autosomal Dominant 2
Fractures of the long bones, Abnormality of pelvic girdle bone morphology, Recurrent fractures, H... OMIM:166600
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Pycnodysostosis
Brachydactyly, Abnormality of pelvic girdle bone morphology, Increased bone mineral density, Oste... OMIM:265800
Diastrophic Dysplasia
Bowing of the long bones, Symphalangism affecting the phalanges of the hand, Joint stiffness, Inc... ORPHA:628
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Ov... ORPHA:314478
Diethylstilbestrol Syndrome
Epididymal cyst, Decreased fertility in females, Cryptorchidism, Micropenis, Abnormality of the u... ORPHA:1916
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly, Retinal coloboma OMIM:258865
Congenital Disorder Of Glycosylation, Type Ig
Short ribs, Sandal gap, Rhizomelia, Retinal detachment, Hypoplasia of the radius, Short tibia, Sh... OMIM:607143
Tetragametic Chimerism
Perineal hypospadias, Ovotestis, Cryptorchidism, Abnormality of the ovary, Micropenis, True herma... ORPHA:199310
Acrofacial Dysostosis Syndrome Of Rodriguez
Clinodactyly, Fibular hypoplasia, 11 pairs of ribs, Triphalangeal thumb, Oligodactyly, Micrognath... OMIM:201170
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Foot monodactyly, Bifid femur, Aplasia of the ulna, Split hand, Hand monodactyly OMIM:228250
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Premature ovarian insufficiency ORPHA:126
Caffey Disease
Cortical irregularity, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular b... OMIM:114000
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Absent tibia, Short hallux, Aplasia/Hypoplasia of the ulna, Split hand... OMIM:119100
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Dysosteosclerosis
Narrow iliac wing, Clavicular sclerosis, Absent paranasal sinuses, Osteopenia, Progressive bowing... OMIM:224300
Multiple Epiphyseal Dysplasia, Lowry Type
Brachydactyly, Flattened epiphysis, Fibular hypoplasia, Dislocated radial head, Rhizomelia, Micro... ORPHA:166016
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Tibial bowing, A... ORPHA:3344
Multiple Epiphyseal Dysplasia With Robin Phenotype
Brachydactyly, Flat capital femoral epiphysis, Irregular epiphyses, Flattened epiphysis, Flexion ... OMIM:601560
Dysosteosclerosis
Increased bone mineral density, Recurrent fractures, Hypoplastic vertebral bodies, Craniofacial h... ORPHA:1782
Acromesomelic Dysplasia 2B
Brachydactyly, Deformed tarsal bones, Deviation of finger, Fibular hypoplasia, Rhizomelia, Short ... OMIM:228900
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Brachydactyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Joint stiffness, Short metaca... OMIM:608940
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Coxa valga, Abnormal foot morphology, Broad femoral n... ORPHA:85184
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Increased bone mineral density, Optic atrophy, Femur fracture, Flared metaphysi... OMIM:259700
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Diaphyseal dysplasia, Hyperostosis cranialis interna OMIM:231095
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Gnathodiaphyseal Dysplasia
Bowing of the long bones, Osteopenia, Increased susceptibility to fractures, Osteomyelitis, Diaph... OMIM:166260
Buschke-Ollendorff Syndrome
Craniosynostosis, Joint stiffness, Flexion contracture, Recurrent fractures, Abnormality of epiph... ORPHA:1306
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary OMIM:241090
Mesomelic Dysplasia, Savarirayan Type
Flared radial metaphysis, Narrow iliac wing, Broad tibial metaphyses, Hypoplasia of proximal radi... ORPHA:85170
Microcephaly-Micromelia Syndrome
Craniosynostosis, Absent radius, Oligodactyly, Micrognathia, Micromelia, Short tibia, Humeroradia... OMIM:251230
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Craniosynostosis, Osteopenia, Coxa valga, ... ORPHA:356961
Orofaciodigital Syndrome Iv
Brachydactyly, Clinodactyly, Toe syndactyly, Foot polydactyly, Hand polydactyly, Micrognathia, Sh... OMIM:258860
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Fibular hypoplasia, Sandal gap, Clinodactyly of the 5th finger, Microg... ORPHA:1106
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Satoyoshi Syndrome
Amenorrhea, Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the uterus, Hypopl... ORPHA:3130
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Dislocated radial head, Osteoporosis, Joint hypermobility, Arachn... OMIM:614856
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Talipes, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, ... OMIM:227270
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Abnormal sperm... OMIM:228300
Laurin-Sandrow Syndrome
Toe syndactyly, Talipes, Finger syndactyly, Absent radius, Absent tibia, Mirror image polydactyly... ORPHA:2378
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Diaphyseal sclerosis, Recurrent fractures, Osteomyelitis, Mandibular osteom... OMIM:259710
Perrault Syndrome 4
Primary amenorrhea, Bicornuate uterus, Secondary amenorrhea, Premature ovarian insufficiency, Inc... OMIM:615300
Atelosteogenesis Type Iii
Vertebral hypoplasia, Absent humerus, Absent radius, Laryngotracheomalacia, Epiphyseal stippling ... ORPHA:56305
Acheiropodia
Abnormality of epiphysis morphology, Absent radius, Aplasia of the ulna, Fibular aplasia, Abnorma... ORPHA:931
X-Linked Hypophosphatemia
Bowing of the long bones, Genu varum, Bowing of the legs, Craniosynostosis, Upper limb metaphysea... ORPHA:89936
Acromesomelic Dysplasia 3
Brachydactyly, Carpal synostosis, Hypoplasia of the ulna, Widened proximal tibial metaphyses, Apl... OMIM:609441
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus, Primary amenorrhea ORPHA:247768
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Flattened epiphysis, Flared iliac wing, Rhizomelia, Tibial bowing, Osteoarthritis, Me... OMIM:602111
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Genu varum, Craniosynostosis, Increased bone mineral density, Abnormal trabecul... ORPHA:289176
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Bilateral talipes equinovarus, Patellar hypoplasia, Absent tibia, Talipes equinovarus, Mirror ima... OMIM:119800
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Metaphyseal Acroscyphodysplasia
Brachydactyly, Genu varum, Craniosynostosis, Cone-shaped metacarpal epiphyses, Coxa valga, Short ... OMIM:250215
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Abnormality of the ulna, Hypoplasia of the ulna, Fibular hypoplasia, ... ORPHA:2634
Paget Disease Of Bone 3
Fractures of the long bones, Patchy osteosclerosis, Osteolysis OMIM:167250
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Fibular aplasia, Split ... OMIM:113310
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Optic atrophy OMIM:615085
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fractures of the long bones, Bowing of the legs, Osteopenia, Patchy osteosclerosis, Metaphyseal s... OMIM:112250
Functioning Gonadotropic Adenoma
Central diabetes insipidus, Infertility, Decreased female libido, Amenorrhea, Panhypopituitarism,... ORPHA:91348
Omodysplasia 1
Fibular hypoplasia, Rhizomelia, Increased fibular diameter, Limited knee extension, Limited elbow... OMIM:258315
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Robin Sequence With Cleft Mandible And Limb Anomalies
Fibular hypoplasia, Short metacarpal, Clinodactyly of the 5th finger, Tibial deviation of toes, S... OMIM:268305
Weismann-Netter Syndrome
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Calvarial hyperostosis, Fibu... OMIM:112350
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Fibular hypoplasia, Mesomelic leg shortening, Micrognathia, Hypoplastic iliac wing, Short toe, Ha... OMIM:609945
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Optic disc pallor, Recurrent fractures, Optic atrophy OMIM:611490
46,Xy Sex Reversal 7
Abnormality of the epididymis, Hypoplasia of the uterus, Primary amenorrhea, Gonadal dysgenesis, ... OMIM:233420
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Abnormality of the metaphysis, Osteopetrosis ORPHA:1522
Camurati-Engelmann Disease
Diaphyseal sclerosis, Optic nerve compression, Increased bone mineral density, Sclerosis of skull... OMIM:131300
Hypophosphatemic Rickets, X-Linked Dominant
Bowing of the legs, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Trape... OMIM:307800
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Spars... OMIM:600081
Partial Androgen Insensitivity Syndrome
Aplasia of the uterus, Male sexual dysfunction, Perineal hypospadias, Primary amenorrhea, Azoospe... ORPHA:90797
Pycnodysostosis
Brachydactyly, Acromelia, Increased bone mineral density, Coronal craniosynostosis, Rhizomelia, J... ORPHA:763
Schnitzler Syndrome
Increased bone mineral density, Arthritis ORPHA:37748
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Tibial Hemimelia
Absent tibia OMIM:275220
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Increased bone mineral density, Decreased osteoclast count, Micrognathia, F... OMIM:259720
Hypophosphatemic Rickets, X-Linked Recessive
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Spars... OMIM:300554
Femoral-Facial Syndrome
Abnormality of pelvic girdle bone morphology, Preaxial foot polydactyly, Abnormality of fibula mo... ORPHA:1988
Hymen, Imperforate
Hydrocolpos, Amenorrhea, Hematocolpos, Imperforate hymen OMIM:237100
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Brachydactyly, Hypoplasia of the ulna, Short long bone, Fibular hypoplasia, Short ribs, Absent ti... OMIM:613091
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Decreased calvarial ossification, Hypoplastic pubic bone, Short long bone, Fibular hypoplasia, Sh... OMIM:617925
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Shoulder dislocation, Phocomelia, Absent radius, Fibular hypoplasia, Aplasia/Hypoplas... OMIM:171480
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Craniosynostosis OMIM:218550
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Bowing of the long bones, Carpal synostosis, Hypoplastic frontal sinu... ORPHA:90652
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Hypoplasminogenemia
Abnormality of the ovary, Cervicitis, Abnormal fallopian tube morphology ORPHA:722
Congenital Factor Vii Deficiency
Menorrhagia, Ovarian cyst ORPHA:327
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Micrognathia, Facial hyperostosis, Abnormality of the metaphysis,... ORPHA:2780
Ulnar/Fibular Ray Defect And Brachydactyly
Brachydactyly, Toe syndactyly, Bilateral talipes equinovarus, Unilateral ulnar hypoplasia, Fibula... OMIM:608571
Hydrocephalus With Associated Malformations
Abnormal foot morphology, Tibial bowing, Micrognathia, Lower limb undergrowth, Short lower limbs OMIM:236640
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Coxa valga, Phocomelia, Absent radius, Finger syndactyly, Clinodactyly of the 5th fin... ORPHA:3320
Hyperoxaluria, Primary, Type I
Retinopathy, Increased bone mineral density, Optic neuropathy, Pathologic fracture, Choroidal neo... OMIM:259900
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Brachydactyly, Disproportionate shortening of the tibia, Short ribs, Postaxial polysyndactyly of ... OMIM:263520
Blomstrand Lethal Chondrodysplasia
Bowing of the long bones, Increased bone mineral density, Abnormality of epiphysis morphology, Sh... ORPHA:50945
Shox-Related Short Stature
Ulnar radial head dislocation, Tibial bowing, Micrognathia, Lower limb undergrowth, Forearm under... ORPHA:314795
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal distal phalanx morphology of finger, Metaphyseal spurs, Micrognathia, Hypoplastic iliac ... ORPHA:96334
Pseudohypoparathyroidism Type 1B
Cortical subperiosteal resorption of humeral metaphyses, Diaphyseal sclerosis, Increased bone den... ORPHA:94089
Cleidocranial Dysplasia
Brachydactyly, Absent paranasal sinuses, Hypoplastic frontal sinuses, Increased bone mineral dens... OMIM:119600
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad first metatarsal, Preaxial foot polydactyly, Y-shaped metacarpals, Cone-... ORPHA:2751
Kenny-Caffey Syndrome, Type 2
Retinal calcification, Increased bone mineral density, Abnormality of the medullary cavity of the... OMIM:127000
Dysostosis, Stanescu Type
Bowing of the long bones, Brachydactyly, Increased bone mineral density, Abnormality of epiphysis... ORPHA:1798
Majeed Syndrome
Metaphyseal irregularity, Flexion contracture, Increased bone mineral density, Increased suscepti... ORPHA:77297
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Micrognathia ORPHA:1237
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Diaphyseal sclerosis, Optic nerve compression, Osteopetrosis OMIM:259730
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Spars... OMIM:241530
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Finger clinodactyly ORPHA:3352
Ophthalmomandibulomelic Dysplasia
Coxa valga, Fibular hypoplasia, Ulnar deviated club hands, Lateral humeral condyle aplasia, Radia... OMIM:164900
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Abnormality of fibula morphology, Tibial bowing, Micrognathia, Abnormal... ORPHA:3035
Atelosteogenesis, Type I
Vertebral hypoplasia, Talipes, 11 pairs of ribs, Micrognathia, Brachydactyly, Short humerus, Club... OMIM:108720
Otopalatodigital Syndrome, Type Ii
Short thumb, Micrognathia, Bulbous tips of toes, Irregular metacarpals, Short ribs, Sclerosis of ... OMIM:304120
Occipital Horn Syndrome
Pes planus, Osteoporosis, Osteomalacia, Genu valgum, Hip dysplasia, Rickets, Hip dislocation, Bra... ORPHA:198
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Metaphyseal widening, Osteopetrosis, Optic atrophy OMIM:618476
Eiken Syndrome
Clinodactyly, Flattened epiphysis, Delayed ossification of carpal bones, Type A1 brachydactyly, F... OMIM:600002
Dyggve-Melchior-Clausen Disease
Genu varum, Pes planus, Clinodactyly of the 5th finger, Rhizomelic arm shortening, Hypoplastic il... OMIM:223800
Grant Syndrome
Tibial bowing, Down-sloping shoulders, Micrognathia OMIM:138930
Microphthalmia With Limb Anomalies
Toe syndactyly, Hand oligodactyly, 4-5 metacarpal synostosis, Fibular hypoplasia, Postaxial foot ... OMIM:206920
Boomerang Dysplasia
Neonatal death, Fibular aplasia, Hypoplastic iliac body, Absent radius OMIM:112310
Lenz-Majewski Hyperostotic Dwarfism
Cranial hyperostosis, Brachydactyly, Symphalangism affecting the phalanges of the hand, Finger sy... ORPHA:2658
Pseudohypoparathyroidism Type 1C
Brachydactyly, Short 5th metacarpal, Increased bone mineral density, Short metacarpal, Broad dist... ORPHA:79444
Poems Syndrome
Sclerosis of foot bone, Metaphyseal sclerosis, Sclerosis of hand bone, Sclerosis of skull base, P... ORPHA:2905
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia, Hand oligodactyly OMIM:165590
Pseudohypoparathyroidism Type 1A
Brachydactyly, Short 5th metacarpal, Increased bone mineral density, Short metacarpal, Broad dist... ORPHA:79443
Schwartz-Jampel Syndrome
Pes planus, Osteoporosis, Micrognathia, Protrusio acetabuli, Micromelia, Arthrogryposis multiplex... ORPHA:800
Dent Disease 1
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Spars... OMIM:300009
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis, Micrognathia OMIM:617306
Raine Syndrome
Brachydactyly, Bowing of the long bones, Increased bone mineral density, Micrognathia, Micromelia... OMIM:259775
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Osteoarthritis, Pedal edema, Osteolysis, Pathologic f... ORPHA:77259
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Short palm, Patchy osteosclerosis, Micrognathia, Small hand, Short foot OMIM:241410
Desmosterolosis
Talipes, Increased bone mineral density, Micrognathia, Metatarsus adductus, Micromelia, Osteopetr... ORPHA:35107
Fibrochondrogenesis 1
Hypoplastic ischia, Short palm, Fibular hypoplasia, Posterior vertebral hypoplasia, Clinodactyly ... OMIM:228520
Werner Syndrome
Joint stiffness, Increased bone mineral density, Rocker bottom foot, Abnormality of retinal pigme... ORPHA:902
Acrofacial Dysostosis, Rodríguez Type
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Hand oligodactyly, Fibular hypop... ORPHA:1788
Trichothiodystrophy
Clubbing, Craniosynostosis, Osteopenia, Multiple joint contractures, Increased bone mineral densi... ORPHA:33364
Campomelic Dysplasia
Bowing of the long bones, Hypoplastic inferior ilia, Recurrent fractures, Tracheomalacia, Fibular... ORPHA:140
Kyphomelic Dysplasia
Short metacarpal, Tibial bowing, Dumbbell-shaped humerus, Micrognathia, Micromelia, Ulnar bowing,... OMIM:211350
Osteogenesis Imperfecta, Type Viii
Decreased calvarial ossification, Osteopenia, Recurrent fractures, Multiple prenatal fractures, S... OMIM:610915
Brachymesomelia-Renal Syndrome
Fibular hypoplasia, Hypoplasia of the radius, Micrognathia, Ulnar bowing, Mesomelic arm shortening OMIM:113470
Sclerosteosis 1
Abnormality of pelvic girdle bone morphology, Deviation of finger, Cortically dense long tubular ... OMIM:269500
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Brachydactyly, Irregular epiphyses, Metaphyseal irregularity, Hypoplasia of the ulna, Foot polyda... OMIM:208500
Cousin Syndrome
Hypoplastic ischia, Toe syndactyly, Hypoplastic pubic bone, 4-5 toe syndactyly, 2-3 toe syndactyl... OMIM:260660
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Postaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Radial bowing, ... OMIM:601027
Gaucher Disease
Cherry red spot of the macula, Retinopathy, Abnormal macular morphology, Osteopenia, Increased bo... ORPHA:355
Osteopetrosis, Autosomal Recessive 7
Optic nerve compression, Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis, Opti... OMIM:612301
Atypical Werner Syndrome
Retinal degeneration, Increased bone mineral density, Abnormality of the Achilles tendon, Short p... ORPHA:79474
Acro-Renal-Mandibular Syndrome
Rudimentary fibula, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Hypoplasia o... ORPHA:958
Bardet-Biedl Syndrome 1
Micropenis, Abnormality of the ovary, Vaginal atresia, Hypogonadism, Decreased testicular size OMIM:209900
12Q14 Microdeletion Syndrome
Clinodactyly of the 5th finger, Osteopoikilosis, Micrognathia ORPHA:94063
Primary Hyperoxaluria
Retinopathy, Recurrent fractures, Generalized osteosclerosis, Optic disc pallor, Choroidal neovas... ORPHA:416
Sanjad-Sakati Syndrome
Short foot, Small hand, Patchy osteosclerosis, Micrognathia ORPHA:2323
Phocomelia, Schinzel Type
Bowing of the long bones, Talipes, Hand oligodactyly, Aplasia/Hypoplasia involving the pelvis, Hy... ORPHA:2879
Erdheim-Chester Disease
Increased bone mineral density, Abnormality of epiphysis morphology, Osteomyelitis, Abnormality o... ORPHA:35687
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Carpal synostosis, Clinodactyly of the 5th finger, Micrognathia, Patellar dislocation... OMIM:274000
Campomelic Dysplasia
Absent sternal ossification, Narrow iliac wing, Tracheomalacia, Poorly ossified cervical vertebra... OMIM:114290
Desmosterolosis
Bilateral talipes equinovarus, Rhizomelia, Micrognathia, Generalized osteosclerosis, Arthrogrypos... OMIM:602398
Acrorenal-Mandibular Syndrome
Rudimentary fibula, Toe syndactyly, Missing ribs, Foot polydactyly, Hypoplasia of the ulna, Hypop... OMIM:200980
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Decreased calvarial ossification, Aplasia/Hypoplasia involving the carpal bones, Aplasia of the u... OMIM:276820
Hydrolethalus Syndrome 1
Upper limb undergrowth, Duplication of phalanx of hallux, Micrognathia, Proximal tibial hypoplasi... OMIM:236680
Cranioectodermal Dysplasia 1
Brachydactyly, Clinodactyly, Flattened epiphysis, Broad toe, Broad distal phalanges of all finger... OMIM:218330
Schneckenbecken Dysplasia
Advanced tarsal ossification, Hypoplastic vertebral bodies, Fibular hypoplasia, Short ribs, Incre... ORPHA:3144
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Craniosynostosis, Optic nerve compression, Recurrent fractures, Abnorma... ORPHA:667
Gaucher Disease Type 3
Osteolysis, Increased susceptibility to fractures, Increased bone mineral density ORPHA:77261
Schinzel-Giedion Midface Retraction Syndrome
Short sternum, Thickened cortex of long bones, Wide distal femoral metaphysis, Increased density ... OMIM:269150
Acromelic Frontonasal Dysplasia
Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly ORPHA:1827
Osteopetrosis With Renal Tubular Acidosis
Abnormal retinal morphology, Recurrent fractures, Micrognathia, Retinal atrophy, Osteopetrosis, O... ORPHA:2785
Williams Syndrome
Abnormality of pelvic girdle bone morphology, Osteopenia, Increased bone mineral density, Joint s... ORPHA:904
Osteopathia Striata With Cranial Sclerosis
Tracheomalacia, Paranasal sinus hypoplasia, Craniofacial osteosclerosis, Fibular hypoplasia, Clin... OMIM:300373
Camptodactyly Syndrome, Guadalajara, Type I
Brachydactyly, Toe syndactyly, Short palm, Short femoral neck, Fibular hypoplasia, Twelfth rib hy... OMIM:211910
Kinsship Syndrome
Osteopenia, Coxa valga, Fibular hypoplasia, Pes planus, Dislocated radial head, Micrognathia, Pol... OMIM:619297
Orofaciodigital Syndrome Type 4
Genu varum, Finger syndactyly, Aplasia/Hypoplasia of the mandible, Micrognathia, Micromelia, Apla... ORPHA:2753
Charge Syndrome
Bilateral talipes equinovarus, Hypoplasia of the ulna, Absent radius, Absent tibia, Short thumb, ... OMIM:214800
Turner Syndrome
Primary amenorrhea, Abnormality of the ovary, Gonadoblastoma, Secondary amenorrhea, Female infert... ORPHA:881
Mosaic Monosomy X
Primary amenorrhea, Abnormality of the ovary, Gonadoblastoma, Secondary amenorrhea, Female infert... ORPHA:99228
Monosomy X
Primary amenorrhea, Abnormality of the ovary, Gonadoblastoma, Secondary amenorrhea, Female infert... ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Primary amenorrhea, Abnormality of the ovary, Gonadoblastoma, Secondary amenorrhea, Female infert... ORPHA:99413
Breast Cancer
OMIM:114480

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 Hmmr

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 Hmmr.

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

Title Journal IMPC Allele PubMed ID
HMMR acts in the PLK1-dependent spindle positioning pathway and supports neural development. eLife (October 2017) Hmmrtm1a(EUCOMM)Hmgu PMC5681225

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MGI Allele Allele Type Produced
Hmmrtm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Hmmrtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Hmmrtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Hmmrtm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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