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 1.07×10-09
increased bone mineral density Hmmrtm1b(EUCOMM)Hmgu HOM Early adult 4.64×10-05
short tibia Hmmrtm1b(EUCOMM)Hmgu HOM Early adult 4.45×10-05
decreased total retina thickness Hmmrtm1b(EUCOMM)Hmgu HOM   Early adult 9.27×10-07
preweaning lethality, incomplete penetrance Hmmrtm1b(EUCOMM)Hmgu HOM Early adult 0.00
persistence of hyaloid vascular system Hmmrtm1b(EUCOMM)Hmgu HOM   Early adult 2.07×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
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 0.0%
aorta 0.0%
bone 0.0%
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%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
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 lymph node
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vas deferens Unavailable
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.

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

Eye Morphology

VIP of right fundus

17 Images

Eye Morphology

VIP of left fundus

17 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Eye Morphology

VIP of left eye

17 Images

Eye Morphology

VIP of right eye

17 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

X-ray

XRay Images Forepaw

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 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
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, Limitation of joint mobility, 1-5 finger syndactyly, Foot pol... ORPHA:93405
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Osteochondrosis Of The Metatarsal Bone
Pedal edema, Flattened metatarsal heads, Abnormality of the third metatarsal bone, Arthritis, Str... ORPHA:564003
Mueller-Weiss Syndrome
Equinovarus deformity, Fragmented, irregular epiphyses, Talipes calcaneovarus, Abnormality of the... ORPHA:566943
Sclerosteosis
Optic atrophy, Diaphyseal undertubulation, Abnormal cortical bone morphology, Craniofacial hypero... ORPHA:3152
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Pyknoachondrogenesis
Increased bone mineral density, Stillbirth OMIM:265880
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density, Optic atrop... OMIM:239100
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis, Dense metaphyseal bands, Metaphyseal dysplasia OMIM:615198
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea ORPHA:397685
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Osteopoikilosis, Lower limb asymmetry OMIM:166700
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... OMIM:127300
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Femoral bowing, Tibial bowing, Cortical thickening of long bone d... OMIM:166740
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Abnormal femur morphology, Tarsal sclerosis, Abnormal long bo... ORPHA:166119
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density, Pedal edema ORPHA:75325
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Craniosynostosis, Increased bone mineral density ORPHA:178377
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli... ORPHA:240
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R... OMIM:249700
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia OMIM:246570
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Abnormality of the ovary, Ovarian g... ORPHA:206484
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... ORPHA:1972
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated... OMIM:605274
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Flynn-Aird Syndrome
Increased bone mineral density, Osteoporosis, Joint stiffness, Rod-cone dystrophy, Increased bone... OMIM:136300
Hyperostosis Corticalis Generalisata
Diaphyseal undertubulation, Cranial hyperostosis, Abnormal cortical bone morphology, Generalized ... ORPHA:3416
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
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
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Osteomesopyknosis
Increased bone mineral density OMIM:166450
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Dense metaphyseal bands, Erlenmeyer flask deformity of the femurs, Cortical sclero... OMIM:611497
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Eiken Syndrome
Fibular hypoplasia, Abnormal bone ossification, Delayed epiphyseal ossification, Abnormal acetabu... ORPHA:79106
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... ORPHA:2790
Intermediate Osteopetrosis
Optic atrophy from cranial nerve compression, Abnormality of bone mineral density, Recurrent frac... ORPHA:210110
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Otopalatodigital Syndrome Type 1
Abnormal metacarpal morphology, Proximal placement of thumb, Sandal gap, Short hallux, Increased ... ORPHA:90650
Craniodiaphyseal Dysplasia, Autosomal Dominant
Optic atrophy, Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis, Papilledema, ... OMIM:122860
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Polycystic ovaries, Decreased fertility, Hypogonadotropic hypogonadism ORPHA:1643
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Premature Ovarian Failure 5
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the ovary, Reduced antral fo... OMIM:611548
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea, Polycystic ovaries ORPHA:2795
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short... OMIM:612447
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Polycystic ovaries, Hypergonadotropic hypogonadism ORPHA:2229
Lethal Recessive Chondrodysplasia
Short long bone, Flared elbow metaphyses, Micromelia, Micrognathia, Limb undergrowth, Generalized... ORPHA:1423
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Limb undergrowth, Abnormal limb bone morphology, Abnormal cortica... ORPHA:2204
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Polycystic Ovary Syndrome 1
Oligomenorrhea, Amenorrhea, Enlarged polycystic ovaries OMIM:184700
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormality of bone mineral density, Coxa vara, Broad femoral neck, A... ORPHA:2114
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Abnormal femoral neck/head morphology, Retinal detachment, Hemiatroph... ORPHA:163649
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
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
Osteopetrosis, Autosomal Recessive 9
Osteopetrosis, Increased bone mineral density, Cortical sclerosis, Papilledema, Pathologic fracture OMIM:620366
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Abnormal pelvic girdle bone ... OMIM:607634
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap... OMIM:135750
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Retinal dystrophy, Remnants of the hyaloid vascular system, Chorioretinal c... ORPHA:231736
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Ovarian Dysgenesis 2
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... OMIM:300510
Orofaciodigital Syndrome Ix
Camptodactyly, Retinal coloboma, Hand polydactyly, Toe syndactyly, Short tibia OMIM:258865
Chondrodysplasia, Blomstrand Type
Stillbirth, Flared metaphysis, Generalized osteosclerosis, Short ribs, Micromelia, Micrognathia, ... OMIM:215045
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Albers-Schönberg Osteopetrosis
Optic atrophy, Abnormal metaphysis morphology, Genu valgum, Abnormal metacarpal morphology, Gener... ORPHA:53
Ovarian Fibrothecoma
Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology, Gonadal calcification... ORPHA:314478
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Angioid streaks of the fundus, Increased bone mineral density, Bowing of the long bon... OMIM:239000
Melorheostosis
Increased bone mineral density, Arthritis, Hyperostosis, Lower limb asymmetry, Joint stiffness, E... ORPHA:2485
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Spondyloepiphyseal Dysplasia Tarda
Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyses, Abnormally os... ORPHA:93284
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Osteopetrosis, Increased bone mineral density, Recurrent fractures, Optic disc pallor OMIM:611490
Tetragametic Chimerism
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... ORPHA:199310
Diastrophic Dysplasia
Abnormal metaphysis morphology, Short finger, Proximal placement of thumb, Abnormal metacarpal mo... ORPHA:628
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low... ORPHA:93356
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Osteopetrosis, Autosomal Dominant 2
Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Abnormal pel... OMIM:166600
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
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, Micrognathia, Overlappin... OMIM:201170
Dysosteosclerosis
Optic atrophy, Abnormal metaphysis morphology, Craniofacial hyperostosis, Increased bone mineral ... ORPHA:1782
Blount Disease
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysi... ORPHA:2768
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... OMIM:612885
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Dysosteosclerosis
Optic atrophy, Diaphyseal undertubulation, Clavicular sclerosis, Osteopenia, Abnormal metaphyseal... OMIM:224300
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Microphthalmia With Limb Anomalies
Sandal gap, Tibial bowing, Short long bone, Broad thumb, Joint hypermobility, Hip dislocation, Op... ORPHA:1106
Ovarian Dysgenesis 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:614324
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Flared metaphysis, Increa... OMIM:259700
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Abnormal spermatogenesis, Abnormali... OMIM:228300
Microcephaly-Micromelia Syndrome
Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosis, Micrognathi... OMIM:251230
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the uterus, Amenorrhea, Hypopla... ORPHA:3130
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Abnormal pelvic gi... OMIM:144750
Slc35A2-Cdg
Osteopenia, Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Craniosynostosis... ORPHA:356961
Premature Ovarian Failure 18
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the ovary, Elevated circulat... OMIM:619203
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
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral ... OMIM:620076
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
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Fixed elbow flexion, Small epiphyses, Delayed epiphy... ORPHA:166016
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Short tubular bones of the hand, Osteopenia, Abnormal foot morphology, Abnormal diaphysis morphol... ORPHA:85184
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Rhizomelia, Sandal gap, Retinal detachment, Short ribs, Short humerus, ... OMIM:607143
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Absent pate... OMIM:601559
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Ovarian Dysgenesis 10
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:619834
Orofaciodigital Syndrome Iv
Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Brachydact... OMIM:258860
Ghosal Hematodiaphyseal Dysplasia
Increased bone mineral density, Diaphyseal dysplasia, Hyperostosis cranialis interna, Myelofibrosis OMIM:231095
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular exudate, Reduced bone mineral density, Retinal neovascularization... ORPHA:891
Osteogenesis Imperfecta, Type Xiii
Reduced bone mineral density, Limitation of knee mobility, Wide distal femoral metaphysis, Disloc... OMIM:614856
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Cranial hyperostosis, Osteopetrosis, Genu valgum, Diaphyseal sclerosis, Recurrent ... OMIM:259710
Caffey Disease
Subperiosteal bone formation, Calvarial hyperostosis, Tibial bowing, Periosteal thickening of lon... OMIM:114000
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Premature Ovarian Failure 21
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:620311
Premature Ovarian Failure 8
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... OMIM:615723
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Hypoplasia of the uterus, Abnormality of the ovary, Primary amenorrhea ORPHA:247768
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange... ORPHA:2378
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... OMIM:227270
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
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis, Clinodactyly of the 5th finger, Increased bone mineral density, Coloboma, Microgna... OMIM:617306
Atelosteogenesis Type Iii
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Laryngotra... ORPHA:56305
X-Linked Hypophosphatemia
Rickets, Genu valgum, Reduced bone mineral density, Vertebral hyperostosis, Craniosynostosis, Gen... ORPHA:89936
Functioning Gonadotropic Adenoma
Isosexual precocious puberty, Decreased response to growth hormone stimulation test, Pituitary go... ORPHA:91348
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... ORPHA:289176
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Stillbirth, Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror image foot p... OMIM:119800
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared m... OMIM:602111
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Diaphyseal cortical sclerosis, Osteopenia, Metaphyseal striations, Fractures of the long bones, P... OMIM:112250
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Stillbirth, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, U... OMIM:616300
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Male infertility, Hypospadias, Azoospermia, Aplasia of the ut... ORPHA:90797
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... ORPHA:931
Trichothiodystrophy 6, Nonphotosensitive
Increased bone mineral density, Pes cavus, Coxa valga, Coronal craniosynostosis OMIM:616943
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Osteopetrosis OMIM:615085
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallo... OMIM:233420
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Camurati-Engelmann Disease
Genu valgum, Optic nerve compression, Diaphyseal sclerosis, Increased bone mineral density, Corti... OMIM:131300
Omodysplasia 1
Limited elbow extension, Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Limited ... OMIM:258315
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Retinal atrophy, Femoral bowing, Tibial bowing, Short long bone, Sh... OMIM:608940
Pycnodysostosis
Short finger, Rhizomelia, Generalized osteosclerosis, Increased bone mineral density, Hypoplastic... ORPHA:763
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Enlarged polycystic ovaries, Elevated circulating growth hormone concentration ORPHA:90301
Kniest Dysplasia
Rhizomelia, Flared metaphysis, Retinal detachment, Splayed epiphyses, Delayed epiphyseal ossifica... OMIM:156550
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Dyspareunia, Ectopic ovary, Hypoplasia of the vagina, Prima... ORPHA:3109
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Schnitzler Syndrome
Increased bone mineral density, Arthritis ORPHA:37748
Kenny-Caffey Syndrome, Type 2
Abnormality of the medullary cavity of the long bones, Retinal calcification, Increased bone mine... OMIM:127000
Hypoplasminogenemia
Abnormal fallopian tube morphology, Cervicitis, Abnormality of the ovary ORPHA:722
Congenital Factor Vii Deficiency
Menorrhagia, Ovarian cyst ORPHA:327
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... OMIM:113310
Craniometaphyseal Dysplasia
Abnormal metaphysis morphology, Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Femoral-Facial Syndrome
Abnormal fibula morphology, Abnormal pelvic girdle bone morphology, Coxa vara, Aplasia/Hypoplasia... ORPHA:1988
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Mesomelia, Rad... OMIM:164900
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Genu valgum, Fibular bowing, Hypophosphatemic rickets, Cupped metaphyses of hand bones, ... OMIM:307800
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short ribs, Sho... OMIM:613091
Orofaciodigital Syndrome Type 2
Central retinal vessel vascular tortuosity, Finger clinodactyly, Cone-shaped epiphyses of the pha... ORPHA:2751
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Stillbirth, Hip subluxation, Cranial hyperostosis, Osteopetrosis, Flared metaphysi... OMIM:259720
Otopalatodigital Syndrome Type 2
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Abnormal metacarpal morphology, Short h... ORPHA:90652
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o... OMIM:300554
Microphthalmia/Coloboma 12
Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal coloboma, Optic disc ... OMIM:120200
Osteopathia Striata-Cranial Sclerosis Syndrome
Abnormal metaphysis morphology, Osteopetrosis, Increased bone mineral density, Large iliac wing, ... ORPHA:2780
Werner Syndrome
Rocker bottom foot, Increased bone mineral density, Osteoporosis, Joint stiffness, Abnormality of... ORPHA:902
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S... OMIM:617925
Dysostosis, Stanescu Type
Abnormal metaphysis morphology, Increased bone mineral density, Bowing of the long bones, Microme... ORPHA:1798
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Osteopetrosis, Diaphyseal sclerosis, Metaphyseal widening, Erlenmeyer flask deform... OMIM:618476
Blomstrand Lethal Chondrodysplasia
Rhizomelia, Flared metaphysis, Metaphyseal cupping, Increased bone mineral density, Short ribs, S... ORPHA:50945
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Short ri... ORPHA:96334
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Retinal dystrophy, Postaxial polysyndactyly of foot, Sh... OMIM:263520
Pseudohypoparathyroidism Type 1B
Increased bone mineral density, Cortical subperiosteal resorption of humeral metaphyses, Increase... ORPHA:94089
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Fused cervical vertebrae, Aplasia/Hypoplasia of ... ORPHA:3320
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Joint hypermobility, Short foot, Sma... ORPHA:2714
Cleidocranial Dysplasia 1
Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic ... OMIM:119600
Tibial Hemimelia
Absent tibia OMIM:275220
Majeed Syndrome
Increased bone mineral density, Synovitis, Flexion contracture, Metaphyseal irregularity, Osteomy... ORPHA:77297
Hyperoxaluria, Primary, Type I
Optic atrophy, Choroidal neovascularization, Increased bone mineral density, Optic neuropathy, Re... OMIM:259900
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Osteopetrosis, Optic nerve compression, Diaphyseal sclerosis OMIM:259730
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Micrognathia ORPHA:1237
Acromelic Frontonasal Dysostosis
Patellar hypoplasia, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Mesomelic l... OMIM:603671
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased fertility, Ambiguous genitalia, male, Female external genitalia in individual with 46,X... ORPHA:90796
Occipital Horn Syndrome
Large iliac wing, Absent tibia, Aplasia/hypoplasia of the humerus, Joint hypermobility, Aplastic ... ORPHA:198
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Short tibia, Talipes equinovarus OMIM:620306
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Craniosynostosis OMIM:218550
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Finger clinodactyly ORPHA:3352
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... OMIM:108720
Pycnodysostosis
Absent frontal sinuses, Increased bone mineral density, Narrow iliac wing, Osteolytic defects of ... OMIM:265800
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Bowing of the long bone... ORPHA:3035
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ... OMIM:206920
Familial Adenomatous Polyposis 4
Uterine leiomyoma, Ovarian cyst OMIM:617100
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... OMIM:600002
Lenz-Majewski Hyperostotic Dwarfism
Abnormal metaphysis morphology, Cranial hyperostosis, Osteopetrosis, Abnormal cortical bone morph... ORPHA:2658
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Pseudohypoparathyroidism Type 1C
Short 4th metacarpal, Short metatarsal, Increased bone mineral density, Short fifth metatarsal, B... ORPHA:79444
Schwartz-Jampel Syndrome
Flexion contracture of toe, Wrist flexion contracture, Abnormally ossified vertebrae, Joint stiff... ORPHA:800
Poems Syndrome
Metaphyseal sclerosis, Clubbing of fingers, Sclerosis of hand bone, Papilledema, Sclerosis of foo... ORPHA:2905
Pseudohypoparathyroidism Type 1A
Short 4th metacarpal, Reduced bone mineral density, Short metatarsal, Increased bone mineral dens... ORPHA:79443
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ap... ORPHA:1788
Desmosterolosis
Osteopetrosis, Talipes, Increased bone mineral density, Micromelia, Metatarsus adductus, Microgna... ORPHA:35107
Raine Syndrome
Subperiosteal bone formation, Increased bone mineral density, Bowing of the long bones, Micromeli... OMIM:259775
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Macular degeneration, Clubbing, Hypoplasia of mandibl... ORPHA:33364
Dent Disease 1
Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the ankles, Tibial bowin... OMIM:300009
Boomerang Dysplasia
Absent radius, Fibular aplasia, Neonatal death, Hypoplastic iliac body OMIM:112310
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia OMIM:165590
Fibrochondrogenesis 1
Narrow greater sciatic notch, Stillbirth, Fibular hypoplasia, Joint contracture of the hand, Rhiz... OMIM:228520
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Early ossification of capital fe... OMIM:208500
Persistent Hyperplastic Primary Vitreous
Remnants of the hyaloid vascular system, Retinal fold, Tractional retinal detachment, Hyaloid vas... ORPHA:91495
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Short palm, Micrognathia, Short foot, Small hand OMIM:241410
Omodysplasia 2
Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Dislocated r... OMIM:164745
Osteogenesis Imperfecta, Type Viii
Osteopenia, Slender long bone, Femoral retroversion, Tibial bowing, Femoral bowing, Short metacar... OMIM:610915
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Osteopetrosis, Autosomal Recessive 7
Optic atrophy, Femur fracture, Osteopetrosis, Optic nerve compression, Abnormal trabecular bone m... OMIM:612301
Sclerosteosis 1
Optic atrophy, Abnormal pelvic girdle bone morphology, Deviation of finger, Papilledema, Cortical... OMIM:269500
Kyphomelic Dysplasia
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Femoral b... OMIM:211350
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Atypical Werner Syndrome
Rocker bottom foot, Reduced bone mineral density, Osteolytic defects of the phalanges of the hand... ORPHA:79474
Campomelic Dysplasia
Fibular hypoplasia, 11 pairs of ribs, Poorly ossified cervical vertebrae, Tracheomalacia, Tracheo... ORPHA:140
Primary Hyperoxaluria
Optic atrophy, Choroidal neovascularization, Retinopathy, Generalized osteosclerosis, Recurrent f... ORPHA:416
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Split hand, Rudimentary to a... ORPHA:958
Saul-Wilson Syndrome
Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared... OMIM:618150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular s... OMIM:614643
12Q14 Microdeletion Syndrome
Micrognathia, Clinodactyly of the 5th finger, Osteopoikilosis ORPHA:94063
Erdheim-Chester Disease
Abnormal metaphysis morphology, Increased bone mineral density, Osteolysis, Abnormal epiphysis mo... ORPHA:35687
Gaucher Disease
Osteopenia, Increased bone mineral density, Abnormal bone structure, Retinopathy, Joint stiffness... ORPHA:355
Sanjad-Sakati Syndrome
Micrognathia, Patchy osteosclerosis, Short foot, Small hand ORPHA:2323
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Iris coloboma, Retinal nonattachment, Remnants of the hyaloid vascular system, Retinal fold OMIM:221900
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... OMIM:274000
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Decreased testicular size, Vaginal atresia, Hypogonadism, Micropenis OMIM:209900
Desmosterolosis
Rhizomelia, Bilateral talipes equinovarus, Micrognathia, Generalized osteosclerosis, Arthrogrypos... OMIM:602398
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Elbow flexion contracture, Split hand, Rudiment... OMIM:200980
Phocomelia, Schinzel Type
Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph... ORPHA:2879
Mesomelia-Synostoses Syndrome
Narrow foot, Carpometacarpal synostosis, Short metatarsal, Metacarpal synostosis, Distal femoral ... OMIM:600383
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Flared metaphysis, Increased bone mineral density, Coarse metaphyseal trabecularization, Hip dysp... OMIM:620558
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Autosomal Recessive Malignant Osteopetrosis
Abnormal metaphysis morphology, Osteopetrosis, Reduced bone mineral density, Optic nerve compress... ORPHA:667
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Campomelic Dysplasia
Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Tracheobronchomalaci... OMIM:114290
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Pathologic fracture, Retinal calcification, Vitreoretinopathy, Exudative retinopathy,... OMIM:259770
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular... ORPHA:3144
Pierson Syndrome
Posterior lenticonus, Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorr... OMIM:609049
Hydrolethalus Syndrome 1
Stillbirth, Upper limb undergrowth, Postaxial hand polydactyly, Duplication of phalanx of hallux,... OMIM:236680
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Talipes equinovarus ORPHA:1827
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal female external genitalia morphology, Hypospadias, Abnormal ovarian morphology, Abnormal... ORPHA:95699
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Micrognathia, Vitreous hemorrhage, Pes planus, Clinodactyly OMIM:620185
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Femoral bowing, Short ribs, Short metacarpal, Tibial bowing, Broad thumb, Pos... OMIM:304120
Cranioectodermal Dysplasia 1
Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Retinal dystrophy, Broad toe, Triphal... OMIM:218330
Schinzel-Giedion Midface Retraction Syndrome
Short 1st metacarpal, Wide distal femoral metaphysis, Tibial bowing, Postaxial hand polydactyly, ... OMIM:269150
Gaucher Disease Type 3
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures ORPHA:77261
Microphthalmia, Syndromic 2
2-3 toe cutaneous syndactyly, Hammertoe, Sandal gap, Retinal detachment, Contracture of the proxi... OMIM:300166
Osteopetrosis With Renal Tubular Acidosis
Optic atrophy, Osteopetrosis, Retinal atrophy, Micrognathia, Abnormal retinal morphology, Recurre... ORPHA:2785
Williams Syndrome
Osteopenia, Pes planus, Genu valgum, Clinodactyly of the 5th finger, Increased bone mineral densi... ORPHA:904
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Fibular hypoplasia, Flexion contracture of toe, Clinodactyly of the 5th finger, ... OMIM:300373
Charge Syndrome
Hypoplasia of the ulna, Coloboma, Absent tibia, Retinal coloboma, Hand monodactyly, Bilateral tal... OMIM:214800
Neuroocular Syndrome
Clinodactyly of the 5th finger, Genu recurvatum, Hyperextensibility of the finger joints, Promine... OMIM:619539
Full Nf2-Related Schwannomatosis
Retinal hamartoma, Remnants of the hyaloid vascular system, Epiretinal membrane, Abnormal optic n... ORPHA:637
Orofaciodigital Syndrome Type 4
Finger syndactyly, Postaxial hand polydactyly, Split hand, Micromelia, Camptodactyly of finger, A... ORPHA:2753
Kinsship Syndrome
Polydactyly, Osteopenia, Fibular hypoplasia, Dislocated radial head, Micrognathia, Mesomelia, Pes... OMIM:619297
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Secondary amenorrhea, Abnormality of the ovary, Female infertili... ORPHA:99413
Turner Syndrome
Premature ovarian insufficiency, Secondary amenorrhea, Abnormality of the ovary, Female infertili... ORPHA:881
Mosaic Monosomy X
Premature ovarian insufficiency, Secondary amenorrhea, Abnormality of the ovary, Female infertili... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Secondary amenorrhea, Abnormality of the ovary, Female infertili... ORPHA:99226
Norrie Disease
Abnormal chorioretinal morphology, Optic atrophy, Abnormal vitreous humor morphology, Retinal det... ORPHA:649
Holoprosencephaly 2
Cyclopia, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Iris coloboma OMIM:157170
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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Hmmrtm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
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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