Gene Summary

Name:
ankyrin repeat and IBR domain containing 1
Synonyms:
4631416I11Rik,  2310061P20Rik

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
increased fasting circulating glucose level Ankib1tm1b(EUCOMM)Hmgu HOM Early adult 2.32×10-05
increased circulating alkaline phosphatase level Ankib1tm1b(EUCOMM)Hmgu HOM Early adult 8.97×10-06
limb grasping Ankib1tm1b(EUCOMM)Hmgu HOM Early adult 9.42×10-07
increased circulating phosphate level Ankib1tm1b(EUCOMM)Hmgu HOM   Early adult 4.80×10-05
short tibia Ankib1tm1b(EUCOMM)Hmgu HOM   Early adult 4.43×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Peyer's patch  Wholemount images heterozygote 50% (1 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 50% (1 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Liver 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)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote 100% (2 of 2)
Ear N/A heterozygote 50% (1 of 2)
Ear N/A homozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 2)
Lung N/A heterozygote 50% (1 of 2)
Lung N/A homozygote 50% (1 of 2)
Mandibular process N/A heterozygote 50% (1 of 2)
Mandibular process N/A homozygote 50% (1 of 2)
Maxillary process N/A heterozygote 50% (1 of 2)
Maxillary process N/A homozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote 100% (2 of 2)
Oral cavity N/A heterozygote 50% (1 of 2)
Oral cavity N/A homozygote 50% (1 of 2)
Skin N/A heterozygote 50% (1 of 2)
Skin N/A homozygote 50% (1 of 2)
Tail somite N/A heterozygote 50% (1 of 2)
Tail somite N/A homozygote 50% (1 of 2)
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 587)
aorta 0.17% (1 of 592)
bone 0.0%
brain 0.85% (5 of 586)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 591)
cerebellum 0.51% (3 of 591)
cerebral cortex 0.34% (2 of 587)
esophagus 1.69% (7 of 414)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 588)
hippocampus 0.51% (3 of 591)
hypothalamus 0.34% (2 of 590)
kidney 4.57% (27 of 591)
large intestine 5.25% (31 of 591)
liver 0.0%
lower urinary tract 0.17% (1 of 590)
lung 0.34% (2 of 587)
lymph node 0.17% (1 of 590)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 586)
oral epithelium 0.0%
ovary 0.17% (1 of 589)
oviduct 0.0%
pancreas 0.85% (5 of 587)
parathyroid gland 0.18% (1 of 570)
peripheral nervous system 0.34% (2 of 588)
peyers patch 0.0%
pituitary gland 0.17% (1 of 594)
prostate gland 2.19% (13 of 593)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 5.26% (31 of 589)
spinal cord 0.51% (3 of 589)
spleen 0.51% (3 of 591)
stomach 3.74% (22 of 589)
striatum 0.51% (3 of 584)
testis 1.02% (6 of 590)
thymus 0.17% (1 of 586)
thyroid gland 2.89% (17 of 589)
trachea 0.51% (3 of 591)
uterus 0.34% (2 of 589)
vascular system 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.25% (6 of 479)
ear 0.21% (1 of 469)
embryo 0.43% (2 of 469)
eye 0.21% (1 of 473)
footplate 0.21% (1 of 472)
forebrain 0.22% (1 of 465)
forelimb 0.21% (1 of 472)
handplate 0.21% (1 of 479)
head 0.84% (4 of 475)
heart 0.21% (1 of 467)
hindbrain 1.04% (5 of 479)
hindlimb 0.21% (1 of 477)
liver 0.21% (1 of 478)
lung 0.21% (1 of 467)
mandibular process 0.21% (1 of 469)
maxillary process 0.21% (1 of 477)
midbrain 0.21% (1 of 468)
oral cavity 0.21% (1 of 470)
skin 0.21% (1 of 474)
tail 0.21% (1 of 474)
tail somite group 0.21% (1 of 483)

Associated Images

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

Adult LacZ

LacZ Images Wholemount

23 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

Echo

M-Mode Images

28 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

Human diseases caused by Ankib1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ankib1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Pseudohypoparathyroidism, Type Ib
Brachydactyly, Hypocalcemia, Hyperphosphatemia, Short metacarpal OMIM:603233
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Acromesomelic Dysplasia 2A
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... OMIM:200700
Pseudohypoparathyroidism Type 2
Hypocalcemia, Laryngeal dystonia, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... ORPHA:2098
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Blue Diaper Syndrome
Recurrent hypoglycemia, Hyperphosphatemia, Increased proinsulin:insulin ratio, Hypercalcemia ORPHA:94086
Vitamin D-Dependent Rickets, Type 3
Bowing of the legs, Hypophosphatemia, Metaphyseal cupping, Hypocalcemia, Flared metaphysis, Genu ... OMIM:619073
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... OMIM:249700
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154275
Hypophosphatemia, Renal, With Intracerebral Calcifications
Short distal phalanx of finger, Renal hypophosphatemia OMIM:241519
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... ORPHA:1972
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154276
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:145600
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Fibular Hemimelia
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnormality of fibula mor... ORPHA:93323
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... OMIM:605274
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Hypoplasi... OMIM:601376
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Pseudohypoparathyroidism, Type Ia
Short toe, Brachydactyly, Hypocalcemic tetany, Hyperphosphatemia, Short metatarsal, Short metacar... OMIM:103580
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Small hand, Micrognathia, Hyperphosphatemia, Short foot, Short palm, Hypocalcemic s... OMIM:241410
Pseudohypoparathyroidism, Type Ic
Brachydactyly, Hypocalcemic tetany, Hyperphosphatemia, Short metatarsal, Short metacarpal OMIM:612462
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Metacarpal periosteal thickening, Achilles tendon calcification, Hyperphosphatemia, Hypercalcemia OMIM:617994
Laurin-Sandrow Syndrome
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... OMIM:135750
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Diaphyseal sclerosis, Laryngeal dystonia, Hypocalcemic tetany, Hyperphosphatemia, C... ORPHA:94089
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... ORPHA:2756
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Hypophosphatemic rickets, Hypophosphatemia, Abnormal circulating calciu... OMIM:307800
Autoimmune Hypoparathyroidism
Hypocalcemia, Laryngeal dystonia, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
Dyschondrosteosis And Nephritis
Ulnar bowing, Short tibia, Radial bowing, Short forearm OMIM:127350
Hypophosphatemic Bone Disease
Bowing of the legs, Hypophosphatemia OMIM:146350
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level... OMIM:618858
Blount Disease
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... ORPHA:2768
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Hyperphosphatemia OMIM:614207
Pseudohypoparathyroidism Type 1C
Short fifth metatarsal, Hypocalcemia, Laryngeal dystonia, Brachydactyly, Short 3rd metacarpal, Sh... ORPHA:79444
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Acrodysostosis 1 With Or Without Hormone Resistance
Dislocated radial head, Long hallux, Cone-shaped epiphyses of the phalanges of the hand, Hypoplas... OMIM:101800
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Triphalangeal ... OMIM:201170
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... ORPHA:988
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Short humerus, Lateral femoral bowing, Hyperphosphatemia, Hyperuricemia, Bowin... OMIM:239000
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Metaphyseal irregularity, Tibial bowing, Hypophosphatemia, Delayed epiphyseal ossification, Bowin... OMIM:600081
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Sanjad-Sakati Syndrome
Hypocalcemia, Small hand, Micrognathia, Hyperphosphatemia, Short foot ORPHA:2323
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia ORPHA:99845
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short femur, Short tibia... OMIM:607143
Pseudohypoparathyroidism Type 1A
Short fifth metatarsal, Hypocalcemia, Laryngeal dystonia, Brachydactyly, Short 3rd metacarpal, Sh... ORPHA:79443
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia, Glycosuria, Genu valgum OMIM:618913
Acromesomelic Dysplasia 2B
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... OMIM:228900
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... OMIM:119100
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level, Diabetes mellitus, Hy... OMIM:606176
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia OMIM:610582
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... ORPHA:85170
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Abnormality of the medullary cavity of the long bones, Hyperphosphatemia, Transient... OMIM:127000
Hypophosphatemic Rickets, X-Linked Recessive
Metaphyseal irregularity, Hypophosphatemic rickets, Hypophosphatemia, Tibial bowing, Delayed epip... OMIM:300554
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Metaphyseal irregularity, Hypophosphatemic rickets, Hypophosphatemia, Tibial bowing, Delayed epip... OMIM:241530
Acrodysostosis With Multiple Hormone Resistance
Short toe, Hypocalcemia, Hypoplastic vertebral bodies, Absent/hypoplastic paranasal sinuses, Cone... ORPHA:280651
Orofaciodigital Syndrome Iv
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... OMIM:258860
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Oculogyric crisis, Elevated circulating creatine kinase concentrati... ORPHA:94093
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Metaphyseal irregularity, Tibial bowing, Hypophosphatemia, Subperiosteal bone resorption, Delayed... OMIM:264700
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Short fem... OMIM:601560
Eiken Syndrome
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... ORPHA:79106
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia OMIM:211900
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia, Abnormality of the lower limb OMIM:193100
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Genu recurvatum, Talipes, Short metacarpal, Toe syndactyly ORPHA:2611
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... ORPHA:85188
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Acetabular spurs, M... ORPHA:1505
Slc35A2-Cdg
Talipes equinovarus, Increased circulating thyroglobulin level, Short tibia, Aplasia/hypoplasia i... ORPHA:356961
Vitamin D-Dependent Rickets, Type 2A
Metaphyseal irregularity, Tibial bowing, Hypophosphatemia, Subperiosteal bone resorption, Delayed... OMIM:277440
Acheiropodia
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... ORPHA:931
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Micrognathia, Short tibia, Micromelia, Oligodactyly, Hu... OMIM:251230
Dent Disease 1
Metaphyseal irregularity, Tibial bowing, Hypophosphatemia, Delayed epiphyseal ossification, Bowin... OMIM:300009
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia, Abnormal hip bone morphology ORPHA:457059
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... OMIM:268305
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia OMIM:618856
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... ORPHA:166016
Metaphyseal Chondrodysplasia, Jansen Type
Clinodactyly of the 5th finger, Hypophosphatemia, Metaphyseal cupping, Short ribs, Micrognathia, ... OMIM:156400
Autosomal Dominant Hypophosphatemic Rickets
Bowing of the legs, Hypophosphatemia, Hypocalcemia ORPHA:89937
Oncogenic Osteomalacia
Abnormality of femur morphology, Tibial bowing, Hypophosphatemia, Hypocalcemia, Abnormality of fi... ORPHA:352540
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Glycosuria OMIM:613388
Autosomal Dominant Hypocalcemia
Writer's cramp, Hypomagnesemia, Hypocalcemia, Hyperphosphatemia ORPHA:428
Stuve-Wiedemann Syndrome 1
Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalangeal joint of t... OMIM:601559
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hypophosphatemia, Glycosuria, Impaired glucose tolerance, Hypertrigly... ORPHA:2088
Autosomal Dominant Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Stenosis of the medullary cavity of the long bones, H... ORPHA:93325
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... ORPHA:2378
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Abnormal hip bone morphology, Genu varum, Genu valgum, Abnormal m... ORPHA:93160
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... OMIM:113310
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Bowing of the legs, Hypophosphatemic rickets, Hypophosphatemia, Increased circulating beta-C-term... ORPHA:157215
Atelosteogenesis Type Iii
Talipes equinovarus, Hand clenching, Absent humerus, Knee dislocation, Micrognathia, Distal taper... ORPHA:56305
Microphthalmia With Limb Anomalies
Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th finger, Talipes eq... ORPHA:1106
Orofaciodigital Syndrome Ix
Hand polydactyly, Short tibia, Camptodactyly, Toe syndactyly OMIM:258865
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Glycosuria, Hypoglycemia, Diabetes mellitus, Hypouricemia OMIM:616026
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... ORPHA:2634
Femoral-Facial Syndrome
Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Short femur, Micrognathia, Mater... ORPHA:1988
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Tibial bowing, Hypophosphatemia, Subperiosteal bone resorption, ... ORPHA:289157
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Glycosuria, Hypokalemia OMIM:134600
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the ... OMIM:609945
Type 1 Diabetes Mellitus
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus OMIM:222100
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... OMIM:250215
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Micrognathia, Short 5th finger, Hypoplasia of the ulna, Talipes, Radial... OMIM:227270
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Glycosuria OMIM:308990
Opsismodysplasia
Hypophosphatemia, Metaphyseal cupping, Hypoplastic vertebral bodies, Short metacarpal, Hypoplasti... OMIM:258480
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Acromesomelic Dysplasia 3
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... OMIM:609441
Tibial Hemimelia
Absent tibia OMIM:275220
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... OMIM:600785
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short ribs, Postaxial pol... OMIM:613091
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Talipes equinovarus, Bilateral talipes equinovarus, Mirror image foot polydactyly, Patellar hypop... OMIM:119800
Transient Neonatal Diabetes Mellitus
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... ORPHA:99886
Ulnar/Fibular Ray Defect And Brachydactyly
Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower limb asymmetry, Unila... OMIM:608571
Hydrocephalus With Associated Malformations
Tibial bowing, Micrognathia, Short lower limbs, Abnormal foot morphology, Lower limb undergrowth OMIM:236640
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Hypophosphatemia, Hypomagnesemia, Talipes equinovarus, Elevated circula... OMIM:619743
X-Linked Hypophosphatemia
Bowing of the legs, Hypophosphatemia, Trapezoidal distal femoral condyles, Flared iliac wing, Upp... ORPHA:89936
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia OMIM:227810
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia ORPHA:398063
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... OMIM:608940
Shox-Related Short Stature
Forearm undergrowth, Tibial bowing, Micrognathia, Genu valgum, Short foot, Lower limb undergrowth... ORPHA:314795
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Type II diabetes mellitus, Decreased HDL cholesterol concentration, Maternal di... OMIM:604367
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Mesomelic arm shortening, Short humerus, Shoulder dislocation, G... OMIM:171480
Cystinosis
Hypophosphatemia, Type I diabetes mellitus, Hypokalemia ORPHA:213
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia,... OMIM:164900
Omodysplasia 1
Limited knee flexion/extension, Increased fibular diameter, Micrognathia, Limited knee flexion, S... OMIM:258315
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:466650
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Coxa valga, Finger syndactyly, Ad... ORPHA:3320
Fibrous Dysplasia Of Bone
Abnormality of femur morphology, Coxa vara, Hypophosphatemia, Abnormal morphology of ulna, Abnorm... ORPHA:249
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses OMIM:166740
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Glycosuria, Hyperglycemia, Athetosis OMIM:618857
Grant Syndrome
Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, El... ORPHA:552
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia ORPHA:340
Orofaciodigital Syndrome Type 2
Mesomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Broad first metatar... ORPHA:2751
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... OMIM:262190
Hyperparathyroidism, Neonatal Severe
Calcinosis, Metaphyseal irregularity, Hypophosphatemia, Hypercalcemia OMIM:239200
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Short ribs, Brachydactyly, Postaxial polysyndactyly of foot, Postaxial hand polydactyly, Mesomeli... OMIM:263520
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Postaxial polydactyly, Short ribs, Micrognathia, Preaxial polydacty... OMIM:617925
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hy... ORPHA:31824
Microphthalmia With Limb Anomalies
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Postaxia... OMIM:206920
Dent Disease
Metaphyseal irregularity, Delayed epiphyseal ossification, Bowing of the legs, Renal hypophosphat... ORPHA:1652
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Coxa vara, Hypophosphatemic rickets, Tibial bowing, Distal femoral bo... ORPHA:289176
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Absent glenoid fossa, Clinodactyly of the 3rd finger, Short 1st met... ORPHA:96334
Uremic Pruritus
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia ORPHA:94059
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Hypomagnesemia, Episodic hypokalemia, Mildly elevated creatine kinase... ORPHA:79102
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Rhizomelic arm shortening, Ge... OMIM:223800
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608600
Bardet-Biedl Syndrome 9
Postaxial polydactyly, Syndactyly, Brachydactyly, Polydactyly, Postaxial hand polydactyly, Postax... OMIM:615986
Hereditary Fructose Intolerance
Reactive hypoglycemia, Hypophosphatemia, Hyperuricemia, Hypermagnesemia ORPHA:469
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Hypocalcemia, Glycosuria, Abnormal long bone morphology, Hypocalce... ORPHA:411634
Eiken Syndrome
Delayed epiphyseal ossification, Long hallux, Delayed tarsal ossification, Delayed ossification o... OMIM:600002
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Fibular aplasia, Hand oligodactyly OMIM:165590
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Glycosuria, Hypoglycemia, Decreased plas... ORPHA:3337
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Clubbing, Multinucleated giant chon... OMIM:108720
Brachymesomelia-Renal Syndrome
Hypoplasia of the radius, Micrognathia, Mesomelic arm shortening, Fibular hypoplasia, Ulnar bowing OMIM:113470
Acrofacial Dysostosis, Rodríguez Type
Aplasia/Hypoplasia of the ulna, Microretrognathia, Talipes equinovarus, Hand oligodactyly, Radiou... ORPHA:1788
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypercalcemia, Hypermagnesemia OMIM:600740
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... OMIM:304120
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Radial bowing, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Postaxial foot polydactyly, ... OMIM:601027
Acro-Renal-Mandibular Syndrome
Split foot, Hypoplasia of the radius, Micrognathia, Rudimentary fibula, Rudimentary to absent tib... ORPHA:958
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Short clavicles, Hyperlipidemia, Hyperinsulinemia, Micrognathia, Acroosteoly... OMIM:608612
Fibrochondrogenesis 1
Short palm, Clinodactyly of the 5th finger, Narrow greater sciatic notch, Short ribs, Small hand,... OMIM:228520
Raine Syndrome
Long hallux, Hypophosphatemia, Micrognathia, Micromelia, Brachydactyly, Bowing of the long bones OMIM:259775
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Abn... ORPHA:2298
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Short femur, Femoral bowing, Micrognathia, Sho... OMIM:211350
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Short clavicles, Hyperlipidemia, Hyperinsulinemia, Micrognathia, ... OMIM:248370
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Hypophosphatemia, Glycosuria, Hypokalemia ORPHA:411629
Cystinosis, Nephropathic
Hypomagnesemia, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Metaphyseal widening, Gl... OMIM:219800
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia, Tremor, Abnormal epiphysis morphology, Bowing of the long bones, ... ORPHA:667
Occipital Horn Syndrome
Coxa vara, Large iliac wing, Coxa valga, Aplasia/hypoplasia of the humerus, Abnormality of the pu... ORPHA:198
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Glycosuria, Hypoglycemia, Bicarbonaturia, Hyperuricemia OMIM:229600
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Early o... OMIM:208500
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hypocalcemic sei... ORPHA:405
Phocomelia, Schinzel Type
Aplasia of the ulna, Ectrodactyly, Radial bowing, Hand oligodactyly, Hypoplasia of the radius, Mi... ORPHA:2879
Boomerang Dysplasia
Hypoplastic iliac body, Fibular aplasia, Absent radius OMIM:112310
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat... OMIM:274000
Alport Syndrome 3, Autosomal Dominant
Azotemia, Hypophosphatemia OMIM:104200
Mccune-Albright Syndrome
Abnormality of femur morphology, Hypophosphatemia ORPHA:562
Acrorenal-Mandibular Syndrome
Split foot, Hypoplasia of the radius, Micrognathia, Hand polydactyly, Rudimentary fibula, Rudimen... OMIM:200980
Campomelic Dysplasia
Small abnormally formed scapulae, Tibial bowing, Talipes equinovarus, Femoral bowing, Micrognathi... ORPHA:140
Pearson Syndrome
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypokalemia, Glycosuria, Diabetes mellitus, Hyper... ORPHA:699
Dend Syndrome
Elevated hemoglobin A1c, Clinodactyly of the 4th finger, Hyperglycemia ORPHA:79134
Schneckenbecken Dysplasia
Hypoplastic vertebral bodies, Short ribs, Increased fibular diameter, Hypoplastic ilia, Micromeli... ORPHA:3144
Acromelic Frontonasal Dysplasia
Patellar hypoplasia, Preaxial foot polydactyly, Talipes equinovarus, Aplasia/Hypoplasia of the tibia ORPHA:1827
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypokalemia, Hypoammonemia, Micrognathia, Genu valgum, Abnormal epiphysis morph... ORPHA:534
Hydrolethalus Syndrome 1
Talipes equinovarus, Micrognathia, Proximal tibial hypoplasia, Upper limb undergrowth, Postaxial ... OMIM:236680
Hypophosphatemic Rickets
Abnormal lower limb bone morphology, Hypophosphatemia, Hypercalcemia, Bowing of the long bones ORPHA:437
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypoplasia of the radius, Femoral bowing, Aplasia/Hypoplasia of the phalanges of the hand, Carpal... OMIM:276820
Campomelic Dysplasia
Femoral bowing, Short 1st metacarpal, 11 pairs of ribs, Bowing of the long bones, Anterior tibial... OMIM:114290
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99880
Parathyroid Carcinoma
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:143
Cranioectodermal Dysplasia 1
Short distal phalanx of finger, Short toe, Hypocalcemia, Short ribs, Short humerus, Brachydactyly... OMIM:218330
Camptodactyly Syndrome, Guadalajara, Type I
Absent ethmoidal sinuses, Short metatarsal, Camptodactyly of 2nd-5th fingers, Brachydactyly, Shor... OMIM:211910
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micrognathia, Preaxial hand polydactyly, Camp... ORPHA:2753
Charge Syndrome
Absent tibia, Hypocalcemia, Bilateral talipes equinovarus, Absent radius, Micrognathia, Down-slop... OMIM:214800

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 Ankib1

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 Ankib1.

No publications found that use IMPC mice or data for Ankib1.

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MGI Allele Allele Type Produced
Ankib1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Ankib1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ankib1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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