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Gene: Colec10 MGI:3606482

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Gene Summary

Name:
collectin sub-family member 10
Synonyms:
CL-L1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal uterus morphology Colec10em2(IMPC)Tcp HOM Early adult 0.00
abnormal zygomatic bone morphology Colec10em2(IMPC)Tcp HOM Early adult 2.66×10-06
abnormal vertebrae morphology Colec10em2(IMPC)Tcp HOM Early adult 1.72×10-11
decreased exploration in new environment Colec10em2(IMPC)Tcp HOM Early adult 1.54×10-07
short tibia Colec10em2(IMPC)Tcp HOM Early adult 1.96×10-05
increased circulating triglyceride level Colec10em2(IMPC)Tcp HOM Early adult 8.44×10-05
decreased body length Colec10em2(IMPC)Tcp HOM Early adult 7.98×10-05
increased circulating phosphate level Colec10em2(IMPC)Tcp HOM Early adult 4.53×10-05

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lacZ Expression

Expression data not available

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

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

16 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

4 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

4 Images

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Human diseases caused by Colec10 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 Colec10 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
3Mc Syndrome
Caudal appendage, Spina bifida occulta, Scoliosis, Hyperlordosis, Bilateral cryptorchidism, Radio... ORPHA:293843
3Mc Syndrome 3
Preaxial polydactyly, Sacral dimple, Penoscrotal hypospadias, Bifid scrotum, Radioulnar synostosi... OMIM:248340

The table below shows human diseases predicted to be associated to Colec10 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Pseudohypoparathyroidism, Type Ia
Short finger, Short metatarsal, Delayed eruption of teeth, Short metacarpal, Cognitive impairment... OMIM:103580
Pseudohypoparathyroidism, Type Ic
Short metatarsal, Delayed eruption of teeth, Hypocalcemia, Short metacarpal, Cognitive impairment... OMIM:612462
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Hypoplasia of the radius, Tarsal synost... OMIM:112910
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R... OMIM:249700
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Spondyloepiphyseal Dysplasia, Nishimura Type
Cone-shaped epiphyses of the phalanges of the hand, Hypocalcemia, Delayed epiphyseal ossification... OMIM:618618
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia, Short metacarpal, Brachydactyly OMIM:603233
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... OMIM:127300
Pseudohypoparathyroidism Type 1B
Irritability, Hypocalcemic seizures, Diaphyseal sclerosis, Delayed eruption of teeth, Depression,... ORPHA:94089
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Irritability, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Acrodysostosis 1 With Or Without Hormone Resistance
Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Short metacarpal, Neo... OMIM:101800
Hypoalphalipoproteinemia, Primary, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:604091
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... ORPHA:1972
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:136120
Vitamin D-Dependent Rickets, Type 3
Flared metaphysis, Metaphyseal cupping, Hypocalcemia, Hypophosphatemia, Bowing of the legs, Genu ... OMIM:619073
Pseudohypoparathyroidism Type 1C
Short 4th metacarpal, Irritability, Calcinosis, Hypocalcemic seizures, Short metatarsal, Delayed ... ORPHA:79444
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Cryptorchidism, Absent thumb, Aplasia/Hypoplasia of t... OMIM:612447
Orofaciodigital Syndrome Type 10
Metatarsal synostosis, Retrognathia, Fibular aplasia, Tarsal synostosis, Mesomelic arm shortening... ORPHA:2756
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia OMIM:246570
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hypocalcemia, Short palm, Micrognathia, Hyperphosphatemia, Cryptorchidism,... OMIM:241410
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Increased ... ORPHA:93323
Autoimmune Hypoparathyroidism
Irritability, Hypocalcemic seizures, Depression, Hypocalcemia, Confusion, Hypocalcemic tetany, Hy... ORPHA:36913
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Sanjad-Sakati Syndrome
Hypoplasia of penis, Hypocalcemia, Abnormal dental enamel morphology, Spinal canal stenosis, Micr... ORPHA:2323
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Azoospermia, Increased LDL cholest... OMIM:615703
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated... OMIM:605274
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Hypophosphatemic Rickets, X-Linked Dominant
Enamel hypomineralization, Genu valgum, Fibular bowing, Hypophosphatemic rickets, Cupped metaphys... OMIM:307800
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Scoliosis, Increased LDL cholesterol concentration, Elevated circulating cr... OMIM:616516
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Pseudohypoparathyroidism Type 1A
Short metacarpal, Short 4th metacarpal, Irritability, Depression, Hypocalcemia, Short fifth metat... ORPHA:79443
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Broad femoral neck, Abnormal proximal femoral metaphysis morphology, Distal tibia... OMIM:156500
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Micrognathia ORPHA:436182
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Mental deterioration OMIM:615924
Pseudoachondroplasia
Abnormal form of the vertebral bodies, Short long bone, Flat acetabular roof, Increased laxity of... ORPHA:750
Temple Syndrome
Hypertriglyceridemia, Scoliosis, Decreased testicular size, Precocious puberty, Micrognathia, Cli... OMIM:616222
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Pear-shaped vertebrae, Knee osteoarthritis, Tibial bowing, Fe... ORPHA:93356
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperuricemia, Bowing of the long bones, Kyphosis, Lateral femoral bowing, Sho... OMIM:239000
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Bent Bone Dysplasia Syndrome 2
Butterfly vertebrae, Short 1st metacarpal, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, H... OMIM:620076
Linear Verrucous Nevus Syndrome
Talipes, Genu recurvatum, Scoliosis, Short metacarpal, Hypophosphatemia, Toe syndactyly, Mental d... ORPHA:2611
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:607616
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:610947
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Congenital Disorder Of Glycosylation, Type Ig
Butterfly vertebrae, Hypoplasia of the radius, Rhizomelia, Hypospadias, Sandal gap, Hypocalcemia,... OMIM:607143
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Irritability, Hypocalcemic seizures, Fibular bowing, Delayed eruption of teeth, Delayed epiphysea... OMIM:264700
Atelosteogenesis Type Iii
Short tubular bones of the hand, Fibular aplasia, Absent radius, Epiphyseal stippling of the hume... ORPHA:56305
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Micrognathia, Overlappin... OMIM:201170
Vitamin D-Dependent Rickets, Type 2A
Irritability, Hypocalcemic seizures, Fibular bowing, Delayed eruption of teeth, Delayed epiphysea... OMIM:277440
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Fused cervical vertebrae, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of ... ORPHA:3320
Weismann-Netter Syndrome
Fibular bowing, Anterior tibial bowing, Scoliosis, Horizontal sacrum, Kyphosis, Lateral femoral b... OMIM:112350
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Enamel hypoplasia, Hypercalcemia, Hyperphosphatemia, Pulp calcification, Taurodontia OMIM:211900
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Microphthalmia With Limb Anomalies
Sandal gap, Abnormal form of the vertebral bodies, Tibial bowing, Short long bone, Broad thumb, H... ORPHA:1106
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap... OMIM:135750
Femoral-Facial Syndrome
Abnormal fibula morphology, Long penis, Scoliosis, Vertebral segmentation defect, Abnormal pelvic... ORPHA:1988
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Atelosteogenesis, Type Iii
Widened distal phalanges, Tombstone-shaped proximal phalanges, Cervical segmentation defect, Sand... OMIM:108721
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Fibular bowing, Delayed epiphyseal ossification, Hypocalcemia, Enlargement of the ankles, Tibial ... OMIM:600081
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic seizures, Thin long bone diaphyses, Cortical thickening of long bone diaphyses, Pers... ORPHA:93325
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
Slc35A2-Cdg
Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Increased circulating thyrog... ORPHA:356961
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bowing, Absent pate... OMIM:601559
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Small epiphyses, Delayed epiphyseal ossification, Di... ORPHA:166016
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Calf muscle hypertrophy, Polycystic ovaries ORPHA:280356
Orofaciodigital Syndrome Iv
Short finger, Foot polydactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Brachydact... OMIM:258860
Hypocalcemic Vitamin D-Resistant Rickets
Abnormal metaphysis morphology, Genu valgum, Abnormal hip bone morphology, Abnormal form of the v... ORPHA:93160
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpa... OMIM:102510
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Genetic Recurrent Myoglobinuria
Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia ORPHA:99845
Oncogenic Osteomalacia
Abnormal fibula morphology, Abnormal vertebral morphology, Abnormal femur morphology, Abnormal fo... ORPHA:352540
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Metacarpal periosteal thickening, Hypercalcemia, Achilles tendon calcification OMIM:617994
Hypophosphatemic Bone Disease
Bowing of the legs, Hypophosphatemia OMIM:146350
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Butterfly vertebrae, Hypoplasia of the radius, Rudimentary fibula, Finger... ORPHA:958
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Microcephaly-Micromelia Syndrome
Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosis, Micrognathi... OMIM:251230
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Small epiphyses, Ulnar bowing, Pear-shaped vertebrae, Irregular sclerotic endplates, ... OMIM:602111
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Male hypogonadism, Scoliosis, Kyphosis, Micrognathia, Cryptorchidism OMIM:615381
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the ank... OMIM:241530
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ... ORPHA:2141
Smith-Magenis Syndrome
Hypertriglyceridemia, Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Mand... ORPHA:819
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Abnormality of the medullary cavity of the long bones, Hypocalcemia, ... OMIM:127000
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Abnormal acetabulum morphology, Epiphyseal d... ORPHA:79106
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
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
Opsismodysplasia
Rhizomelia, Metaphyseal cupping, Hypoplastic pubic bone, Scoliosis, Short long bone, Flat acetabu... OMIM:258480
Satoyoshi Syndrome
Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal hip bone morphology, Hypoplas... ORPHA:3130
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Autosomal Dominant Hypocalcemia
Depression, Emotional lability, Hypocalcemia, Hypomagnesemia, Hyperphosphatemia ORPHA:428
Shox-Related Short Stature
Ulnar radial head dislocation, Genu valgum, Scoliosis, Tibial bowing, Forearm undergrowth, Microg... ORPHA:314795
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Abnormal form of the vertebral bodies, Finger syndactyly, Abnormal pelvic gir... ORPHA:1788
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the ank... OMIM:300554
Fibrous Dysplasia Of Bone
Abnormal femur morphology, Abnormal tibia morphology, Precocious puberty in females, Abnormal lum... ORPHA:249
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia OMIM:612526
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Smith-Magenis Syndrome
Hypertriglyceridemia, Scoliosis, Mandibular prognathia, Short palm, Brachydactyly, Pes planus, Hy... OMIM:182290
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Omodysplasia 2
Fibular hypoplasia, Clinodactyly of the 5th finger, Hypospadias, Dislocated radial head, Labial h... OMIM:164745
Autosomal Dominant Hypophosphatemic Rickets
Tooth abscess, Bowing of the legs, Hypophosphatemia, Hypocalcemia ORPHA:89937
Metaphyseal Chondrodysplasia, Jansen Type
Clinodactyly of the 5th finger, Clubbing of fingers, Metaphyseal cupping, Short long bone, Short ... OMIM:156400
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Arachnodactyly, Scoliosis, Hypoalbuminemia OMIM:619013
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Long foot, Clitoral hypertrophy, Precocious puberty in females, Mandibular ... ORPHA:528
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
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
X-Linked Hypophosphatemia
Vertebral hyperostosis, Genu valgum, Abnormal dentin morphology, Bowing of the long bones, Flared... ORPHA:89936
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Spinal rigidity, Scoliosis, Hyperlordosis, Increased LDL cholesterol concen... ORPHA:98855
Sillence Syndrome
Flat acetabular roof, Large iliac wing, Broad metatarsal, Broad thumb, Abnormal morphology of the... ORPHA:3168
Citrullinemia Type Ii
Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Elevated plasma citr... ORPHA:247585
Blount Disease
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysi... ORPHA:2768
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration, Cognitive impairment OMIM:300555
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal circulating cop... OMIM:620306
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Scoliosis, Femoral bowing, Shor... OMIM:613091
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange... ORPHA:2378
Orofaciodigital Syndrome Type 2
Cone-shaped epiphyses of the phalanges of the hand, Taurodontia, Postaxial hand polydactyly, Talo... ORPHA:2751
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Clitoral hypertrophy, External genital hypoplasia, Hypospadias, Ovotestis, ... OMIM:610644
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Retrognathia, Fibular hypoplasia, Hypoplasia of the radius, Talipes, Radi... OMIM:227270
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia OMIM:306000
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Spinal rigidity, Scoliosis, Hyperlordosis, Increased LDL cholesterol concen... ORPHA:98863
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... ORPHA:988
Hypocalcemic Vitamin D-Dependent Rickets
Irritability, Hypocalcemic seizures, Delayed eruption of teeth, Delayed epiphyseal ossification, ... ORPHA:289157
Prader-Willi Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Radial deviation of finger, Kyphos... OMIM:176270
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Confusion, Hyperargininemia, Hyperammonemia OMIM:603471
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:603552
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Hypomagnesemia 3, Renal
Amelogenesis imperfecta, Genu valgum, Hypocalcemic seizures, Increased circulating beta-C-termina... OMIM:248250
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S... OMIM:617925
Otospondylomegaepiphyseal Dysplasia
Abnormal vertebral morphology, Fibular bowing, Flared femoral metaphysis, Sandal gap, Abnormal lo... ORPHA:1427
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Short long bo... OMIM:616300
Satoyoshi Syndrome
Genu valgum, Osteolytic defects of the phalanges of the hand, Short metatarsal, Short metacarpal,... OMIM:600705
Hypophosphatemic Rickets, Autosomal Dominant
Abnormality of the lower limb, Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Fanconi Renotubular Syndrome 5
Genu valgum, Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
Spondyloepimetaphyseal Dysplasia, Shohat Type
Squared-off platyspondyly, Fibular overgrowth, Abnormal vertebral morphology, Vertebral compressi... ORPHA:93352
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Spinal rigidity, Scoliosis, Hyperlordosis, Increased LDL cholesterol concen... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Spinal rigidity, Scoliosis, Hyperlordosis, Increased LDL cholesterol concen... ORPHA:98853
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormal vertebral morphology, Small epiphyses, Flared metaphysis, Hypoplastic pubic bone, Cervic... ORPHA:93346
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Emotional lability, Hypoplasia of the ovary, Hypergonadotropic hypogonadism... ORPHA:179494
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Phocomelia, Schinzel Type
Aplasia/Hypoplasia of the sacrum, Hypoplasia of the radius, Fibular aplasia, Abnormal tibia morph... ORPHA:2879
Microtriplication 11Q24.1
Genu valgum, Clinodactyly of the 5th finger, Scoliosis, Hyperlipidemia, Metatarsus adductus, Shor... ORPHA:289522
Autosomal Recessive Hypophosphatemic Rickets
Hypophosphatemic rickets, Rickets of the lower limbs, Delayed eruption of teeth, Distal femoral b... ORPHA:289176
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Progressive psychomotor deterioration, Cognitive impairment ORPHA:363400
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:300635
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Carious teeth, Increased circulating ferritin concentration OMIM:620603
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Increased LDL choles... OMIM:267700
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia OMIM:617885
Omodysplasia 1
Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Increased fibular diameter, Limit... OMIM:258315
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly OMIM:258865
Reni Syndrome
Hypertriglyceridemia, Hypogonadism, Hypoalbuminemia, Cryptorchidism, Micropenis, Mental deteriora... OMIM:617575
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Polycystic ovaries, Hyperuricemia OMIM:604367
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Clinodactyly of the 5th toe, Clinodactyly of the 5th finger OMIM:618010
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Classical-Like Ehlers-Danlos Syndrome Type 2
Kyphoscoliosis, Hypertriglyceridemia, Sacral dimple, Abnormal foot morphology, Hammertoe, Sandal ... ORPHA:536532
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia OMIM:620282
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:613101
Dent Disease 1
Fibular bowing, Delayed epiphyseal ossification, Enlargement of the ankles, Tibial bowing, Femora... OMIM:300009
Acrorenal-Mandibular Syndrome
Kyphoscoliosis, Butterfly vertebrae, Hypoplasia of the radius, Hypoplasia of the ulna, Hemiverteb... OMIM:200980
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Kyphoscoliosis, Retrognathia, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hy... ORPHA:96334
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Retrognathia, Fibular hypoplasia, Sacral dimple, 2-3 toe cutaneous syndact... OMIM:206920
Mandibuloacral Dysplasia
Hypertriglyceridemia, Short clavicles, Osteolytic defects of the distal phalanges of the hand, Hy... ORPHA:2457
Pfeiffer Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Mandibular prognathia, Hyperlordosis, Synostos... ORPHA:710
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Atelosteogenesis, Type I
Clubbing, Tibial bowing, Short metacarpal, Short humerus, Thoracic platyspondyly, Fibular aplasia... OMIM:108720
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Bowing of the legs, Hypophosphatemia, Increased circulating beta-C-term... ORPHA:157215
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ... OMIM:620663
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short ribs, Short lon... OMIM:263520
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Temporomandibular joint ankylosis, Mesomelia, Radi... OMIM:164900
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Fibular Dimelia-Diplopodia Syndrome
Sacrococcygeal teratoma, Absent tibia ORPHA:1757
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Confusion, Back pain, Hyperphosphatemia, Elevated circulating creatinine concentration ORPHA:340
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Biconvex vertebral bodies, Hypoplastic iliac wing, Tibial bowing, Short long bone, Biconcave vert... ORPHA:93315
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperuricemia, Hyperlipidemia, Cognitive impairment ORPHA:364
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Calf muscle hypertrophy, Polycystic ovaries ORPHA:435651
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:618620
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Polycystic ovaries ORPHA:79085
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Abnormal emotion, Increased circulating chylomicron concentration, Memory i... ORPHA:444490
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, ... ORPHA:158057
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Genu valgum, Abnormal metacarpal morphology, Hypoplasia of penis, Bifid scrotum, Brachydactyly, S... ORPHA:1295
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Abnormal labia majora morphology, Polycystic ovaries, Elevated circulating ... ORPHA:435660
Tangier Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating apolipoprotei... OMIM:205400
Dysostosis, Stanescu Type
Abnormal metaphysis morphology, Abnormal dental enamel morphology, Scoliosis, Hyperlordosis, Bowi... ORPHA:1798
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypoplasia of the ovary, Decreased testicular size, Hypergonadotropic hypog... ORPHA:66628
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Micrognathia, Hypomagnesemia, Hypoalbuminemia, ... OMIM:618183
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hypocalcemia, Confusion, Elevated circulating creatine kinase concentration, Deliri... ORPHA:466650
Xp21 Deletion Syndrome
Hypertriglyceridemia, Confusion, Calf muscle hypertrophy, Elevated circulating creatine kinase co... ORPHA:261476
Mccune-Albright Syndrome
Abnormal femur morphology, Scoliosis, Abnormal testis morphology, Precocious puberty, Ovarian cys... ORPHA:562
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia,... OMIM:277460
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Cleidocranial Dysplasia
Abnormal epiphysis morphology, Abnormal sacrum morphology, Abnormal metacarpal morphology, Scolio... ORPHA:1452
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Erupti... OMIM:600002
Lcat Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote... ORPHA:650
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... ORPHA:931
Uremic Pruritus
Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia, Renal hypophosphatemia ORPHA:94059
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Abnormality of the vertebral column, Bicornuate uterus, Micrognathia, Hypoplasia of ... OMIM:601076
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
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Advanced eruption of teeth, Polycystic ovaries ORPHA:2348
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Leydig Cell Hypoplasia
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi... ORPHA:755
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Abnormally ossified ver... ORPHA:3035
Campomelic Dysplasia
Fibular hypoplasia, Ambiguous genitalia, Poorly ossified cervical vertebrae, 11 pairs of ribs, Sc... ORPHA:140
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Pes cavus, Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, ... ORPHA:168563
Saul-Wilson Syndrome
Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared... OMIM:618150
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Pes cavus, Hyperlipidemia, Elevated circulating creatin... OMIM:615980
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Calf muscle pseudohypertrophy, Polycystic ovaries, Hyperuricemia ORPHA:79083
Seckel Syndrome 1
Clitoral hypertrophy, Talipes, 11 pairs of ribs, Sandal gap, Cone-shaped epiphyses of the phalang... OMIM:210600
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Increased C-peptide level OMIM:615238
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Aplasia of the uterus, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplas... OMIM:274000
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... OMIM:207750
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the ovary, Abnormal form of the vertebral bodies, Endometriosis, Vertebral segmentatio... ORPHA:3109
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror image foot polydactyly, ... OMIM:119800
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Seckel Syndrome 7
Abnormal carpal morphology, Clinodactyly of the 5th finger, Short middle phalanx of the 5th finge... OMIM:614851
46,Xy Sex Reversal 11
Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Vanishing testis, G... OMIM:273250
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Irritability, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hyp... OMIM:603553
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... OMIM:300106
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Metaphyseal irregularity, Short finger, Rhizomelia, Flared metaphys... OMIM:608940
Acrofacial Dysostosis, Catania Type
Clinodactyly of the 5th finger, Hypospadias, Spina bifida occulta, Finger syndactyly, Carious tee... ORPHA:1786
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia ORPHA:398063
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyp... OMIM:619743
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Scoliosis, Hemivertebrae, Short ribs, Aplasia of the uterus, Missing ribs,... OMIM:271520
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Supernumerary tooth, Micrognathia, Carious teeth, Hypoplasia of the zygomatic bone ORPHA:3145
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... OMIM:113310
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hypophosphatemia, Bowing of the long bones ORPHA:2088
Raine Syndrome
Mandibular prognathia, Bowing of the long bones, Micromelia, Enamel hypoplasia, Micrognathia, Nat... OMIM:259775
Werner Syndrome
Low back pain, Elevated hemoglobin A1c, Hypertriglyceridemia, Hypogonadism OMIM:277700
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Increased circulating free fatty acid level, Hypophosphatemia OMIM:605911
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Advanced eruption of teeth, Decreased HDL cholesterol concentration, Osteol... ORPHA:280365
Renal And Mullerian Duct Hypoplasia
Micrognathia, Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Seckel Syndrome 10
Hypertriglyceridemia, Slender long bone, Metaphyseal widening, Elevated hemoglobin A1c, Microretr... OMIM:617253
Orofaciodigital Syndrome X
Retrognathia, Fibular aplasia, Finger aplasia, Preaxial hand polydactyly, Coalescence of tarsal b... OMIM:165590
Meckel Syndrome 14
Retrognathia, Talipes, Ambiguous genitalia, Aplasia of the uterus, Postaxial hand polydactyly, Bo... OMIM:619879
Hypocalciuric Hypercalcemia, Familial, Type Iii
Depression, Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Oculocerebrorenal Syndrome Of Lowe
Kyphosis, Hypophosphatemia, Hyperaldosteronism, Abnormal epiphysis morphology, Patellar dislocati... ORPHA:534
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... ORPHA:99429
19P13.12 Microdeletion Syndrome
Deep plantar creases, Clinodactyly of the 5th finger, Hypospadias, Sandal gap, Finger syndactyly,... ORPHA:254346
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Abnormal form of ... ORPHA:3144
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Increased blood ure... OMIM:154230
Popliteal Pterygium Syndrome
Spina bifida occulta, Bifid scrotum, Cutaneous finger syndactyly, Hypoplasia of the vagina, Demen... OMIM:119500
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Increased LDL cholest... OMIM:278000
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu... ORPHA:90797
Cousin Syndrome
Ambiguous genitalia, male, Dislocated radial head, Hypoplastic iliac wing, Hypoplastic ischia, An... OMIM:260660
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Spinal rigidity, Scoliosis, Hyperlordosis, Elevated circulating creatine ki... OMIM:613327
Kyphomelic Dysplasia
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Femoral bowing, Flat ace... OMIM:211350
Bardet-Biedl Syndrome
Hypertriglyceridemia, Retrognathia, Decreased HDL cholesterol concentration, Hypoplasia of penis,... ORPHA:110
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Nager Syndrome
Hypoplasia of the radius, Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Abnormality of th... ORPHA:245
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased circulating chylomicron ... OMIM:615947
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... ORPHA:90793
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:618398
Cystinosis
Hypophosphatemia, Hypokalemia ORPHA:213
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Slender long bone, Upper limb undergrowth, Scoliosis, Precocious puberty, M... ORPHA:369837
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Tibial Hemimelia
Absent tibia OMIM:275220
Fibrochondrogenesis 1
Narrow greater sciatic notch, Fibular hypoplasia, Rhizomelia, Clinodactyly of the 5th finger, Pos... OMIM:228520
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Hypophosphatemia, Metaphyseal irregularity OMIM:239200
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Genu valgum, Mandibular prognathia, Shawl scrotum, Hypoplasia of the zygomatic bone, Cryptorchidism ORPHA:1778
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Calf muscle pseudohypertrophy, Polycystic ovaries, Abnormal circulating lip... ORPHA:79086
Intellectual Disability-Short Stature-Hypertelorism Syndrome
Hypoplasia of the zygomatic bone, Clinodactyly of the 5th finger ORPHA:3074
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyperkalemia, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in indiv... ORPHA:168558
Mesomelia-Synostoses Syndrome
Narrow foot, Abnormal vertebral morphology, Carpometacarpal synostosis, Short metatarsal, Metacar... OMIM:600383
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... ORPHA:1916
Macrophage Activation Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration, Elevated cir... ORPHA:158061
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyperkalemia, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in indiv... ORPHA:289548
Occipital Horn Syndrome
Abnormal fibula morphology, Humerus varus, Genu valgum, Scoliosis, Large iliac wing, Abnormal pub... ORPHA:198
H Syndrome
Hypertriglyceridemia, Azoospermia, Camptodactyly, Decreased testicular size, Hypogonadism, Pes pl... ORPHA:168569
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest... ORPHA:412
Campomelic Dysplasia
Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Femo... OMIM:114290
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Polycystic ovaries, Hypercholesterolemia, Elevated circulating creatine kin... ORPHA:79240
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Irritability, Hyperlipidemia ORPHA:369
Hydrolethalus Syndrome 1
Hypospadias, Abnormal vagina morphology, Upper limb undergrowth, Postaxial hand polydactyly, Dupl... OMIM:236680
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:619313
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Fanconi-Bickel Syndrome
Increased serum bile acid concentration, Hypokalemia, Hypouricemia, Hyperbilirubinemia, Hypergala... OMIM:227810
Acromelic Frontonasal Dysostosis
Patellar hypoplasia, Cryptorchidism, Mesomelic leg shortening, Syndactyly, Preaxial hand polydact... OMIM:603671
Glycogen Storage Disease Iii
Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Glycogen Storage Disease Ixc
Hypertriglyceridemia OMIM:613027
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Cryptorchidism OMIM:218550
Alstrom Syndrome
Polydactyly, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia, Scolio... OMIM:203800
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Polycystic ovaries, Hypercholesterolemia, Elevated circulating creatine kin... ORPHA:264580
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia OMIM:616026
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration ORPHA:540
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:615812
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Hyperuricemia, Hyperlipidemia, Cognitive impairment, Carious t... ORPHA:79259
Juvenile Nephropathic Cystinosis
Abnormal long bone morphology, Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophospha... ORPHA:411634
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Abnormal dental enamel morphology, Hyperlordosis, Carious teeth, Micrognathia,... ORPHA:3253
Oeis Complex
Epispadias, Ambiguous genitalia, male, 11 pairs of ribs, Rectovaginal fistula, Vesicovaginal fist... OMIM:258040
Hyperlipoproteinemia, Type I
Lactescent serum, Hypercholesterolemia, Hyperlipidemia, Increased circulating chylomicron concent... OMIM:238600
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Labial pseudohypertrophy, Polycyst... OMIM:151660
Lysinuric Protein Intolerance
Hypertriglyceridemia, Hyperglycinemia, Steatorrhea, Decreased HDL cholesterol concentration, Elev... ORPHA:470
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Precocious puberty in males, Elevated serum 11-deoxycortisol, Hypokalemia, ... OMIM:202010
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:619802
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Cohen Syndrome
Genu valgum, Clinodactyly of the 5th finger, Abnormal hip bone morphology, Sandal gap, Finger syn... ORPHA:193
Chromosome 17Q12 Deletion Syndrome
Retrognathia, Aplasia of the vagina, Upper limb undergrowth, Scoliosis, Mandibular prognathia, Ap... OMIM:614527
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus OMIM:612964
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... OMIM:233420
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Brachydactyly, Short neck, Hypoplasia of th... ORPHA:247768
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Irritability, Hyperlipidemia ORPHA:2089
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Cognitive impairment, Hyponatremia,... ORPHA:275761
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the... OMIM:614841
Ovarian Dysgenesis 2
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:300510
Dent Disease
Delayed epiphyseal ossification, Enlargement of the ankles, Abnormality of the lower limb, Enlarg... ORPHA:1652
Osteogenesis Imperfecta, Type Viii
Vertebral compression fracture, Slender long bone, Femoral retroversion, Scoliosis, Femoral bowin... OMIM:610915
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal hip bone morphology, Mandibular prognathia, Carious teeth, Hypoplasia of the zygomatic b... ORPHA:1110
Cystinosis, Nephropathic
Genu valgum, Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, Decreased circul... OMIM:219800
Treacher Collins Syndrome 3
Micrognathia, Hypoplasia of the zygomatic bone OMIM:248390
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Long foot, Clitoral hypertrophy, Mandibular prognathia, Large hands, Polycy... OMIM:608594
Amed Syndrome, Digenic
Attention deficit hyperactivity disorder, Hypoplasia of the uterus, Long thumb OMIM:619151
Toluene Embryopathy
Hypoplasia of the zygomatic bone, Micrognathia, Tapered finger, Cryptorchidism ORPHA:1920
Distal 17P13.1 Microdeletion Syndrome
Retrognathia, Limitation of knee mobility, Abnormal hand morphology, Arachnodactyly, Hypoplasia o... ORPHA:319171
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Long foot, Clitoral hypertrophy, Mandibular prognathia, Large hands, Elevat... OMIM:269700
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Genu valgum, Osteolytic defects of the phalanges of the hand, Sandal gap, P... OMIM:619127
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Cognitive impairment ORPHA:411629
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Sandal gap, Micromelia, Broad hallux, Syndactyly, Brachydactyly, Short neck, Hypoplasia of the zy... OMIM:614800
Townes-Brocks Syndrome 2
Hypospadias, Rectovaginal fistula, Spina bifida occulta, Scoliosis, Bifid uterus OMIM:617466
Flat Face-Microstomia-Ear Anomaly Syndrome
Scoliosis, Camptodactyly of finger, Micrognathia, Small scrotum, Hypoplasia of the zygomatic bone... ORPHA:1968
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Aplasia of the uterus, Bilateral talipes equinovarus, Attention deficit hyper... OMIM:614083
Schimke Immuno-Osseous Dysplasia
Wide capital femoral epiphyses, Abnormal femoral head morphology, Abnormal primary molar morpholo... ORPHA:1830
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Aplasia of the uterus, Aplasia of the fallopian tube, Aplasia of the... OMIM:158330
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Long foot, Hypospadias, Talipes equinovarus, Delayed eruption of teeth, Sle... OMIM:264090
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... ORPHA:325124
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Finger syndactyly, Adactyly, Split hand, Micrognathia, Upper limb ... ORPHA:989
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Depression, Hypoplasia of the ovary, Ca... ORPHA:432
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp... OMIM:614837
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Osteolytic defects of the distal phalanges of the hand, Hyperlipidemia, Aplasia/Hypop... ORPHA:90154
Aromatase Deficiency
Genu valgum, Delayed epiphyseal ossification, Macroorchidism, postpubertal, Hyperlipidemia, Enlar... ORPHA:91
Proteasome-Associated Autoinflammatory Syndrome 3
Finger swelling, Hypertriglyceridemia OMIM:617591
Wiedemann-Rautenstrauch Syndrome
Kyphoscoliosis, Retrognathia, Hypertriglyceridemia, Atlantoaxial abnormality, Hypoplastic vertebr... ORPHA:3455
Perrault Syndrome 4
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus, Cognitive impairment OMIM:615300
Hyperparathyroidism-Jaw Tumor Syndrome
Mandibular pain, Testicular neoplasm, Hypercalcemia, Hypophosphatemia, Uterine leiomyoma ORPHA:99880
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Meckel Syndrome 12
Rocker bottom foot, Micrognathia, Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Acromelic Frontonasal Dysplasia
Patellar hypoplasia, Aplasia/Hypoplasia of the tibia, Cryptorchidism, Preaxial foot polydactyly, ... ORPHA:1827
Otopalatodigital Syndrome, Type Ii
Kyphoscoliosis, Rocker bottom foot, Spondylolysis, Short ribs, Femoral bowing, Tibial bowing, Sho... OMIM:304120
Severe Oculo-Renal-Cerebellar Syndrome
Scoliosis, Hypoplasia of the zygomatic bone, Sandal gap, Mandibular prognathia ORPHA:2715
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Hypoproteinemia, Cognitive impairment, Hyponatremia, Dementia, Increased ci... ORPHA:167
Methanol Poisoning
Confusion, Hyperlipidemia ORPHA:31825
Parathyroid Carcinoma
Mandibular pain, Testicular neoplasm, Hypercalcemia, Hypophosphatemia, Uterine leiomyoma ORPHA:143
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Retrognathia, Abnormal fibula morphology, Sandal gap, Hypoplasia of penis, Abnormal dental enamel... ORPHA:1812
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Rocker bottom foot, Clitoral hypertrophy, Femoral bowing, Bifid scrotum, Arachnodactyly, Decrease... OMIM:201750
Perrault Syndrome 3
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:614129
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration ORPHA:98907
Autosomal Recessive Malignant Osteopetrosis
Abnormal metaphysis morphology, Delayed eruption of teeth, Hypocalcemia, Bowing of the long bones... ORPHA:667
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Clitoral hypertrophy, Premature pubarche, Ambiguous genitalia, Precocious puberty i... ORPHA:90794
Perrault Syndrome 6
Streak ovary, Hypoplasia of the uterus OMIM:617565
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Early ossification of capital fe... OMIM:208500
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Memory impairment, Depression, Emotional lability, Hyperlipidemia, Cognitive impairment, Hyperald... ORPHA:189427
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short clavicles, Osteolytic defects of the distal phalanges of the hand, Hyperlipidemia, Hypoplas... OMIM:608612
Alagille Syndrome 1
Hypertriglyceridemia, Hypoplasia of the ulna, Butterfly vertebral arch, Hemivertebrae, Short dist... OMIM:118450
Atypical Werner Syndrome
Rocker bottom foot, Hypertriglyceridemia, Osteolytic defects of the phalanges of the hand, Ovaria... ORPHA:79474
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Short clavicles, Osteolytic defects of the distal phalanges of the hand, Hyperlipidem... OMIM:248370
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Hypocalcemia, Aplasia of the uterus, Uterus didelphys, Vaginal atresia, Se... ORPHA:2237
Antley-Bixler Syndrome
Talipes, Femoral bowing, Camptodactyly of finger, Arachnodactyly, Narrow pelvis bone, Hypoplasia ... ORPHA:83
Alport Syndrome 3A, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
Prolidase Deficiency
Genu valgum, Abnormal hip bone morphology, Carious teeth, Micrognathia, Arachnodactyly, Palmoplan... ORPHA:742
Hajdu-Cheney Syndrome
Hypospadias, Partial absence of toe, Absent frontal sinuses, Scoliosis, Bowing of the long bones,... ORPHA:955
Orofaciodigital Syndrome Type 4
Retrognathia, Rectovaginal fistula, Finger syndactyly, Monorchism, Perineal fistula, Postaxial ha... ORPHA:2753
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Flexion contracture of toe, Elevat... OMIM:256040
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Sacral dimple, Mandibular prognathia, Microretrognathia, Hypoplasia of the zygomatic bone, Tapere... OMIM:613603
Familial Multiple Lipomatosis
Premature eruption of permanent teeth, Hyperlipidemia, Bowing of the long bones ORPHA:199276
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Hyperch... ORPHA:90041
Primary Fanconi Renotubular Syndrome
Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat... ORPHA:3337
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia... OMIM:278850
Ulbright-Hodes Syndrome
Hypoplasia of the radius, Fibular aplasia, Clitoral hypertrophy, Enlarged labia minora, Abnormal ... ORPHA:3404
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Premature Ovarian Failure 6
Streak ovary, Hypoplasia of the uterus OMIM:612310
Wolf-Hirschhorn Syndrome
Abnormal form of the vertebral bodies, Aplasia of the uterus, Kyphosis, Hip dislocation, Sacral d... OMIM:194190
Thyrotoxic Periodic Paralysis
Hyperkalemia, Transient hypophosphatemia, Episodic hypokalemia, Hypomagnesemia, Mildly elevated c... ORPHA:79102
X-Linked Mandibulofacial Dysostosis
Hypoplasia of the zygomatic bone, Micrognathia, Cryptorchidism ORPHA:1131
Charge Syndrome
Hypoplasia of the ulna, External genital hypoplasia, Hypocalcemia, Labial hypoplasia, Scoliosis, ... OMIM:214800
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia,... ORPHA:86816
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia, Microretrognathia OMIM:619418
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal circulating lipid concentration, Hypertriglyceridemia, Decreased HDL cholesterol concent... ORPHA:77293
Lumbar Syndrome
Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl... ORPHA:83628
Lethal Omphalocele-Cleft Palate Syndrome
Retrognathia, Bifid uterus ORPHA:2736
Premature Ovarian Failure 18
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619203
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619665
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Hypoplasia of the zygomatic bone ORPHA:2835
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Increased circulating ferritin concentration, Hyperproteinemia ORPHA:158048
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Clinodactyly of the 5th finger, Aplasia of the vagina, Scoliosis, Aplasia of the uterus, Postaxia... ORPHA:457284
Glycerol Kinase Deficiency
Hypertriglyceridemia, Hyperglycerolemia, Cryptorchidism OMIM:307030
Pearson Syndrome
Steatorrhea, Hypokalemia, Hypocalcemia, Hyperalaninemia, Hypomagnesemia, Hypophosphatemia ORPHA:699
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas... ORPHA:90796
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration OMIM:610717
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Abnormal spermatogenesis, Hyperlipidemia, Hypoplasia of the fallopian t... ORPHA:3464
Microcephaly 20, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder, Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Scoliosis, Bifid distal phalanx of toe, Clitoral hypoplasia, Short palm, Cuta... OMIM:618419
Coffin-Siris Syndrome 1
Retrognathia, Clitoral hypertrophy, Sandal gap, Dislocated radial head, Prominent fingertip pads,... OMIM:135900
Townes-Brocks Syndrome 1
Clinodactyly of the 5th toe, Bifid scrotum, Broad thumb, Aplasia/Hypoplasia of the 3rd toe, Hypos... OMIM:107480
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia, Cog... OMIM:235400
Kinsship Syndrome
Polydactyly, Fibular hypoplasia, Sacral dimple, Dislocated radial head, Scoliosis, Mandibular pro... OMIM:619297
Holoprosencephaly
Talipes, Abnormal form of the vertebral bodies, Hypoplasia of penis, Scoliosis, Cognitive impairm... ORPHA:2162
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Palmoplantar cutis gyrata, Bifid scrotum, Prominent scrotal raphe, Palmoplantar keratoderma, Hypo... ORPHA:1555
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Marshall Syndrome
Genu valgum, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Micrognathia, Hypoplasia of ... ORPHA:560
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Short distal phalanx of finger, Hypoplasia of the uterus, Clinodactyly, Delayed eruption of teeth OMIM:615866
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Fibular hypoplasia, Flexion contracture of toe, Clinodactyly of the 5th finger, ... OMIM:300373
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Aplasia of the uterus, Aplasia of the vagina OMIM:146255
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Hypokalemia OMIM:619573
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Cholestasis-Lymphedema Syndrome
Hyperlipidemia ORPHA:1414
Cardiofaciocutaneous Syndrome
Genu valgum, Scoliosis, Abnormal morphology of ulna, Palmoplantar keratoderma, Short neck, Hypopl... ORPHA:1340
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperbilirubinemia, Hypophosphatemia, Hyperuricemia OMIM:229600
Cranioectodermal Dysplasia 1
Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Hypocalcemia, Broad toe, Triphalangea... OMIM:218330
Neu-Laxova Syndrome 1
Rocker bottom foot, Radial deviation of finger, Finger syndactyly, Calcaneovalgus deformity, Camp... OMIM:256520
Treacher-Collins Syndrome
Retrognathia, Rectovaginal fistula, Abnormality of the vertebral column, Hypoplasia of penis, Abn... ORPHA:861
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Hyperlipidemia, Aplasia/Hypoplasia of the... ORPHA:90153
Charge Syndrome
Polydactyly, Abnormal tibia morphology, Talipes, Clinodactyly of the 5th finger, Delayed eruption... ORPHA:138
Aapoaiv Amyloidosis
Back pain, Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration ORPHA:98908
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hyperlipidemia, Hypoplasia of the fallopian tube, Hypergonadotropic hyp... OMIM:241080
Orofaciodigital Syndrome Type 1
Tarsal synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental enamel morp... ORPHA:2750
Pontocerebellar Hypoplasia Type 7
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... ORPHA:284339
Pancreatic Agenesis-Holoprosencephaly Syndrome
Hypoplasia of the zygomatic bone, Aplasia/Hypoplasia of the phalanges of the thumb, Reduced C-pep... ORPHA:556955
Peters-Plus Syndrome
Square pelvis bone, Proximal placement of thumb, Short metacarpal, Syndactyly, Agenesis of maxill... OMIM:261540
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Aplasia/Hypoplasia involving bones of the skull, Bifid uterus, Syndactyly, Unilateral brachydacty... ORPHA:1521
Estrogen Resistance Syndrome
Hypoplasia of the uterus, Enlarged polycystic ovaries, Delayed epiphyseal ossification ORPHA:785
Treacher Collins Syndrome 2
Retrognathia, Micrognathia, Hypoplasia of the zygomatic bone, Microretrognathia OMIM:613717
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Williams Syndrome
Abnormal circulating lipid concentration, Abnormal form of the vertebral bodies, Hypoplasia of pe... ORPHA:904
Limb-Mammary Syndrome
Clinodactyly of the 5th finger, Oligodactyly, Aplasia of the uterus, Syndactyly, 3-4 finger cutan... ORPHA:69085
Carnitine Palmitoyltransferase Ii Deficiency
Hyperlipidemia, Elevated circulating creatine kinase concentration, Decreased plasma total carnit... ORPHA:157
Loeys-Dietz Syndrome
Scoliosis, Arachnodactyly, Micrognathia, Camptodactyly of finger, Pes planus, Uterine rupture ORPHA:60030
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia, Pedal edema, Hydrocele testis ORPHA:567546
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hyperlipidemia, Elevated circulating creatine kinase concentration, Hyperammonemia, Decreased pla... ORPHA:228308
Estrogen Resistance
Polycystic ovaries, Hypoplasia of the uterus OMIM:615363
Ablepharon-Macrostomia Syndrome
Clinodactyly of the 5th finger, Ambiguous genitalia, Short metacarpal, Camptodactyly, Cutaneous f... OMIM:200110
Ablepharon Macrostomia Syndrome
Abnormal female external genitalia morphology, Ambiguous genitalia, Hypoplasia of penis, Hypoplas... ORPHA:920
Pallister-Killian Syndrome
Kyphoscoliosis, Aplasia of the uterus, Small scrotum, Edema of the dorsum of feet, Hip dislocatio... OMIM:601803
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Microphthalmia, Syndromic 9
Micrognathia, Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus OMIM:601186
Alström Syndrome
Hypertriglyceridemia, Short finger, Precocious puberty in females, Abnormality of dental color, H... ORPHA:64
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Fibular hypoplasia, Abnormal vertebral morphology, Hip subluxation, Cervical C2/C3 vertebral fusi... ORPHA:444077
Renal Cysts And Diabetes Syndrome
Hypospadias, Hyperuricemia, Bicornuate uterus, Atretic vas deferens, Epididymal cyst, Elevated ci... OMIM:137920
Peters Plus Syndrome
Sacral dimple, Rhizomelia, Clinodactyly of the 5th finger, Spina bifida occulta, Hypospadias, Mic... ORPHA:709
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Depression, Emotional lability, Scoliosis, Hyperlipidemia, Hyponatremia, Brachydactyly ORPHA:293987
Fabry Disease
Abnormal circulating lipid concentration, Abnormal femur morphology, Depression, Hyperlipidemia, ... ORPHA:324
Cardiac-Urogenital Syndrome
Penoscrotal hypospadias, 2-3 toe syndactyly, Aplasia of the uterus, Bifid scrotum, Unilateral cry... OMIM:618280
Glycogen Storage Disease Ia
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232200
Ehlers-Danlos Syndrome, Vascular Type
Osteolytic defects of the phalanges of the hand, Uterine rupture, Metacarpophalangeal joint hyper... OMIM:130050
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration ORPHA:567983
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypospadias, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus OMIM:309801
Glycogen Storage Disease Ib
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232220
Okamoto Syndrome
Polydactyly, Talipes, Scoliosis, Bifid uterus, Hip dysplasia ORPHA:2729
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Bifid uterus, Cy... ORPHA:322
Vascular Ehlers-Danlos Syndrome
Hypospadias, Hypokalemia, Uterine rupture, Cognitive impairment, Congenital hip dislocation, Cari... ORPHA:286
Norrie Disease
Irritability, Scoliosis, Cryptorchidism, Attention deficit hyperactivity disorder, Uterine rupture ORPHA:649
Primary Triglyceride Deposit Cardiomyovasculopathy
Abnormal calf musculature morphology, Hyperlipidemia, Elevated circulating creatine kinase concen... ORPHA:565612
Glycogen Storage Disease Ic
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232240
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus OMIM:110100
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Hypoplasia of the zygomatic bone, Hitchhiker thumb OMIM:618500
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Polycystic ovaries, Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism ORPHA:572333
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
3Mc Syndrome
Caudal appendage, Spina bifida occulta, Scoliosis, Hyperlordosis, Bilateral cryptorchidism, Radio... ORPHA:293843
3Mc Syndrome 3
Preaxial polydactyly, Sacral dimple, Penoscrotal hypospadias, Bifid scrotum, Radioulnar synostosi... OMIM:248340

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 Colec10

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 Colec10.

No publications found that use IMPC mice or data for Colec10.

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MGI Allele Allele Type Produced
Colec10em2(IMPC)Tcp Exon Deletion Mice, Tissue
Colec10tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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