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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
increased circulating phosphate level Colec10em2(IMPC)Tcp HOM Early adult 4.53×10-05
increased circulating triglyceride level Colec10em2(IMPC)Tcp HOM Early adult 8.44×10-05
abnormal zygomatic bone morphology Colec10em2(IMPC)Tcp HOM Early adult 2.66×10-06
abnormal uterus morphology Colec10em2(IMPC)Tcp HOM Early adult 0.00
abnormal vertebrae morphology Colec10em2(IMPC)Tcp HOM Early adult 1.72×10-11
decreased exploration in new environment Colec10em2(IMPC)Tcp HOM Early adult 9.49×10-08
short tibia Colec10em2(IMPC)Tcp HOM Early adult 1.96×10-05
decreased body length Colec10em2(IMPC)Tcp HOM Early adult 7.98×10-05

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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 Lateral 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 Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Skull Dorso Ventral 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, Bilateral cryptorchidism, Radioulnar synostosis, Prominent coccyx, Hyperlordosi... ORPHA:293843
3Mc Syndrome 3
Clinodactyly, Bifid scrotum, Preaxial polydactyly, Cryptorchidism, Radioulnar synostosis, Penoscr... 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 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Short toe, Delayed eruption of teeth, Short finger, Hypogonadism, Hypocalcemic... OMIM:103580
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Delayed eruption of teeth, Hypogonadism, Hypocalcemic tetany, Hypocalcemia, Sh... OMIM:612462
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Langer Mesomelic Dysplasia
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Lumbar hyperlordosis, ... OMIM:249700
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Small hand, Hyperphosphatemia, Hypocalcemia, Brachydactyly, Cone... OMIM:618618
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Brachydactyly, Hyperphosphatemia, Hypocalcemia OMIM:603233
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp... OMIM:127300
Pseudohypoparathyroidism Type 1B
Depression, Hyperphosphatemia, Delayed eruption of teeth, Hypocalcemic tetany, Hypocalcemia, Irri... ORPHA:94089
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Irritability OMIM:146200
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia, Long hallux, Cryptorchidism, Narrow vertebral interpedicular distance, Disloca... OMIM:101800
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:604091
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Fibu... ORPHA:1972
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Vitamin D-Dependent Rickets, Type 3
Metaphyseal cupping, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Genu varum, Bowing of the... OMIM:619073
Pseudohypoparathyroidism Type 1C
Short fifth metatarsal, Broad distal phalanx of the thumb, Depression, Hyperphosphatemia, Short 3... ORPHA:79444
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... ORPHA:240
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Cryptorchidism, Fibular hypoplasia, ... OMIM:612447
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Acheiropody
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... OMIM:200500
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly OMIM:246570
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Small hand, Hyperphosphatemia, Micrognathia, Cryptorchidism, Hypocalcemia, Short foot, Micropenis... OMIM:241410
Fibular Hemimelia
Toe syndactyly, Structural foot deformity, Finger syndactyly, Short tibia, Limited knee flexion/e... ORPHA:93323
Autoimmune Hypoparathyroidism
Depression, Hyperphosphatemia, Confusion, Hypocalcemic tetany, Hypocalcemia, Irritability, Hypoca... ORPHA:36913
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Sanjad-Sakati Syndrome
Small hand, Hyperphosphatemia, Abnormal dental enamel morphology, Micrognathia, Cryptorchidism, H... ORPHA:2323
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Morbid Obesity And Spermatogenic Failure
Azoospermia, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... OMIM:615703
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Crypto... ORPHA:93322
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Spinal canal stenosis, Trap... OMIM:307800
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Genu varum, Irregular vertebral e... ORPHA:174
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Scoliosis, Hypertriglyceridemia, Elevated circulating cr... OMIM:616516
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Short neck, Calcinosis, Short metacarpal, Broad distal phalanx of the thumb, D... ORPHA:79443
Metaphyseal Chondrodysplasia, Schmid Type
Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra... OMIM:156500
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Micrognathia, Hypertriglyceridemia ORPHA:436182
Temple Syndrome
Precocious puberty, Small hand, Clinodactyly, Decreased testicular size, Micrognathia, Cryptorchi... OMIM:616222
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Hypertriglyceridemia OMIM:615924
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee os... ORPHA:93356
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Hyperuricemia, Lateral femoral bowing, Bowing of the long bones, Hydroxyprolin... OMIM:239000
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Bent Bone Dysplasia Syndrome 2
Platyspondyly, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing,... OMIM:620076
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Linear Verrucous Nevus Syndrome
Genu recurvatum, Mental deterioration, Toe syndactyly, Talipes, Hypophosphatemia, Scoliosis, Shor... ORPHA:2611
Niemann-Pick Disease, Type B
Mental deterioration, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:607616
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia OMIM:610947
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog... ORPHA:3344
Atelosteogenesis Type Iii
Thoracolumbar kyphosis, Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubu... ORPHA:56305
Congenital Disorder Of Glycosylation, Type Ig
Small scrotum, Rhizomelia, Short tibia, Sandal gap, Butterfly vertebrae, Cryptorchidism, Hypocalc... OMIM:607143
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Bulging epiphyses, Delayed erupti... OMIM:264700
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular... OMIM:201170
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Carious teeth, Bulging epiphyses,... OMIM:277440
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Fibular aplasia, Micrognathia, Apl... ORPHA:3320
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Weismann-Netter Syndrome
Fibular bowing, Lateral femoral bowing, Horizontal sacrum, Squared iliac bones, Scoliosis, Delaye... OMIM:112350
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperphosphatemia, Taurodontia, Pulp calcification, Enamel hypoplasia, Calcinosis, Hypercalcemia OMIM:211900
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial ... ORPHA:1106
Laurin-Sandrow Syndrome
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... OMIM:135750
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Long penis, Abnormal sac... ORPHA:1988
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Atelosteogenesis, Type Iii
Rhizomelia, Tombstone-shaped proximal phalanges, Hypoplasia of the maxilla, Radial bowing, Sandal... OMIM:108721
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Bulging epiphyses, Femoral bowing, Fibular bowing, Hypocalcemia,... OMIM:600081
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Cleft mandible, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm short... OMIM:268305
Slc35A2-Cdg
Precocious puberty, Aplasia/hypoplasia involving bones of the extremities, Short tibia, Camptodac... ORPHA:356961
Autosomal Dominant Kenny-Caffey Syndrome
Carious teeth, Hyperphosphatemia, Decreased testicular size, Hypocalcemic tetany, Persistence of ... ORPHA:93325
Stuve-Wiedemann Syndrome 1
Carious teeth, Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bo... OMIM:601559
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Micrognathia,... ORPHA:166016
Plin1-Related Familial Partial Lipodystrophy
Calf muscle hypertrophy, Hypertriglyceridemia, Polycystic ovaries ORPHA:280356
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han... OMIM:258860
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bon... OMIM:102510
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Abnormal form of the vertebral bodies, Abnormal hip bone mo... ORPHA:93160
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Oncogenic Osteomalacia
Abnormal vertebral morphology, Abnormal foot morphology, Abnormality of the tarsal bones, Abnorma... ORPHA:352540
Acro-Renal-Mandibular Syndrome
Hypoplastic scapulae, Kyphosis, Finger syndactyly, Uterus didelphys, Rudimentary fibula, Hypoplas... ORPHA:958
Hypophosphatemic Bone Disease
Hypophosphatemia, Bowing of the legs OMIM:146350
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Achilles tendon calcification, Hypercalcemia, Metacarpal periosteal thickening, Hyperphosphatemia OMIM:617994
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi... OMIM:251230
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta... OMIM:602111
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Micrognathia, Cryptorchidism, Hypertriglyceridemia, Scoliosis, Kyphosis OMIM:615381
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Bulging epiphyses, Fibular bowing, Hypophosphatemic rickets, Fem... OMIM:241530
Brachydactyly, Type A1, C
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... OMIM:615072
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Smith-Magenis Syndrome
Precocious puberty, Toe syndactyly, Abnormal form of the vertebral bodies, Micrognathia, Delayed ... ORPHA:819
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal morphology of female internal genit... ORPHA:2141
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Abnormality of the medullary cavity of the long bones, Thickened... OMIM:127000
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... 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 fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Opsismodysplasia
Hypoplastic ischia, Rhizomelia, Hypoplasia of the odontoid process, Metaphyseal cupping, Hypoplas... OMIM:258480
Satoyoshi Syndrome
Abnormal epiphysis morphology, Abnormality of the uterus, Abnormality of the ovary, Abnormal hip ... ORPHA:3130
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Autosomal Dominant Hypocalcemia
Depression, Hyperphosphatemia, Hypomagnesemia, Emotional lability, Hypocalcemia ORPHA:428
Shox-Related Short Stature
Micrognathia, Genu valgum, Ulnar radial head dislocation, Tibial bowing, Lower limb undergrowth, ... ORPHA:314795
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Micrognathia, Cry... OMIM:609945
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre... ORPHA:1788
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Bulging epiphyses, Femoral bowing, Fibular bowing, Hypophosphate... OMIM:300554
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... ORPHA:94093
Smith-Magenis Syndrome
Pes planus, Hypercholesterolemia, Brachydactyly, Hypertriglyceridemia, Scoliosis, Mandibular prog... OMIM:182290
Fibrous Dysplasia Of Bone
Precocious puberty in females, Lower limb asymmetry, Scoliosis, Abnormal mandible morphology, Inc... ORPHA:249
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... OMIM:609441
Omodysplasia 2
Broad femoral neck, Uterus didelphys, Short 1st metacarpal, Rhizomelic arm shortening, Micrognath... OMIM:164745
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external genitalia, Long foot,... ORPHA:528
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Arachnodactyly, Scoliosis, Hypertriglyceridemia OMIM:619013
Autosomal Dominant Hypophosphatemic Rickets
Tooth abscess, Hypophosphatemia, Hypocalcemia, Bowing of the legs ORPHA:89937
Metaphyseal Chondrodysplasia, Jansen Type
Metaphyseal cupping, Micrognathia, Hip contracture, Knee flexion contracture, Bowing of the long ... OMIM:156400
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia... OMIM:119100
X-Linked Hypophosphatemia
Flattening of the talar dome, Shortening of the talar neck, Abnormal epiphysis morphology, Trapez... ORPHA:89936
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Kyphosis, Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating cre... ORPHA:98855
Acromesomelic Dysplasia 2B
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... OMIM:228900
Sillence Syndrome
Abnormal vertebral morphology, Broad thumb, Intervertebral disk degeneration, Flat acetabular roo... ORPHA:3168
Citrullinemia Type Ii
Hypoalbuminemia, Memory impairment, Decreased HDL cholesterol concentration, Confusion, Hyperlipi... ORPHA:247585
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Dent Disease 2
Hypophosphatemia, Cognitive impairment, Elevated circulating creatine kinase concentration OMIM:300555
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating copper concentration, Short tibia, Abnormal circulating ceruloplasmin concen... OMIM:620306
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... OMIM:613091
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Clitoral hypertrophy, Palmoplantar keratoderma, Decreased testicular size, External genital hypop... OMIM:610644
Orofaciodigital Syndrome Type 2
Natal tooth, Finger syndactyly, Short tibia, Micrognathia, Broad first metatarsal, Cone-shaped ep... ORPHA:2751
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Br... OMIM:223800
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Radial deviation of the hand, Short thumb, Retrognathia, Micrognathia, Fibular ... OMIM:227270
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
X-Linked Emery-Dreifuss Muscular Dystrophy
Kyphosis, Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating cre... ORPHA:98863
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... ORPHA:988
Prader-Willi Syndrome
Small scrotum, Small hand, Carious teeth, Clinodactyly, Decreased HDL cholesterol concentration, ... OMIM:176270
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Subperiosteal bone resorption, Delayed eruption of teeth, Femora... ORPHA:289157
Citrullinemia, Type Ii, Adult-Onset
Confusion, Hyperammonemia, Hyperargininemia, Hypertriglyceridemia, Elevated plasma citrulline OMIM:603471
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly OMIM:228250
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Short tibia, Uterus didelphys, Preaxial polydactyly, Septate vagina, Micrognathia, F... OMIM:617925
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi... OMIM:248250
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal vertebral morphology, Platyspondyly, Dumbbell-shaped femur, Sandal... ORPHA:1427
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Microretrognathia, Natal tooth, Short tibia, Preaxial polydactyly, Hypoplastic pelvis... OMIM:616300
Satoyoshi Syndrome
Genu valgum, Osteolytic defects of the phalanges of the hand, Pes planus, Short metacarpal, Brach... OMIM:600705
Emery-Dreifuss Muscular Dystrophy
Kyphosis, Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating cre... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Kyphosis, Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating cre... ORPHA:98853
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Abnormal vertebral morphology, Platyspondyly, Fibular overgrowth... ORPHA:93352
Microtriplication 11Q24.1
Small hand, Genu valgum, Hyperlipidemia, Talipes equinovarus, Short neck, Metatarsus adductus, Cl... ORPHA:289522
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets, Abnormality of the lower limb OMIM:193100
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets, Genu valgum OMIM:618913
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:140905
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Abnormal vertebral morphology, Platyspondy... ORPHA:93346
Obesity Due To Leptin Receptor Gene Deficiency
Decreased testicular size, Emotional lability, Hypoplasia of the ovary, Hypertriglyceridemia, Hyp... ORPHA:179494
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata... ORPHA:85170
Phocomelia, Schinzel Type
Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi... ORPHA:2879
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cognitive impairment, Progressive psychomotor deterioration ORPHA:363400
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Lower limb asymmetry, Delayed eruption of teeth, Rickets of the lower lim... ORPHA:289176
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
Immunodeficiency 114, Folate-Responsive
Carious teeth, Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:620603
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Omodysplasia 1
Rhizomelia, Short tibia, Limited knee flexion/extension, Micrognathia, Cryptorchidism, Short hume... OMIM:258315
Orofaciodigital Syndrome Ix
Camptodactyly, Hand polydactyly, Toe syndactyly, Short tibia OMIM:258865
Reni Syndrome
Hypoalbuminemia, Mental deterioration, Hypogonadism, Cryptorchidism, Hypertriglyceridemia, Microp... OMIM:617575
Hyperlipidemia, Familial Combined, 3
Increased LDL cholesterol concentration, Xanthelasma, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Glycosylphosphatidylinositol Biosynthesis Defect 17
Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Hypertriglyceridemia OMIM:618010
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Polycystic ovaries OMIM:604367
Classical-Like Ehlers-Danlos Syndrome Type 2
Kyphosis, Sandal gap, Knee dislocation, Abnormal foot morphology, Shoulder dislocation, Sacral di... ORPHA:536532
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:613101
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia OMIM:620282
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Acrorenal-Mandibular Syndrome
Hypoplastic scapulae, Toe syndactyly, Uterus didelphys, Rudimentary fibula, Abnormal sacral segme... OMIM:200980
Dent Disease 1
Delayed epiphyseal ossification, Bulging epiphyses, Fibular bowing, Femoral bowing, Tibial bowing... OMIM:300009
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Micrognathia, Crypt... ORPHA:96334
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Micrognathia, Short clavicles, Acroosteolysis of dis... ORPHA:2457
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... OMIM:206920
Pfeiffer Syndrome
Broad thumb, Synostosis of carpal bones, Finger syndactyly, Hypoplasia of the zygomatic bone, Sho... ORPHA:710
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:615558
Atelosteogenesis, Type I
Radial bowing, Fibular aplasia, Micrognathia, Cryptorchidism, Talipes, Talipes equinovarus, Short... OMIM:108720
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Clinodactyly of the 2nd finger, Micrognathia, Pes planus, Diaphyseal undertubulation, Patellar di... OMIM:620663
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatem... ORPHA:157215
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Cognitive impairment, Hyperuricemia ORPHA:364
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydact... OMIM:263520
Fibular Dimelia-Diplopodia Syndrome
Absent tibia, Sacrococcygeal teratoma ORPHA:1757
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... ORPHA:983
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Ophthalmomandibulomelic Dysplasia
Lateral humeral condyle aplasia, Radial bowing, Temporomandibular joint ankylosis, Ulnar deviated... OMIM:164900
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture... ORPHA:93315
Hemorrhagic Fever-Renal Syndrome
Hyperphosphatemia, Confusion, Elevated circulating creatinine concentration, Hyperkalemia, Back pain ORPHA:340
Cidec-Related Familial Partial Lipodystrophy
Calf muscle hypertrophy, Hypertriglyceridemia, Polycystic ovaries ORPHA:435651
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Polycystic ovaries ORPHA:79085
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased... OMIM:618620
Familial Chylomicronemia Syndrome
Memory impairment, Depression, Increased circulating chylomicron concentration, Abnormal emotion,... ORPHA:444490
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hyperbilirubinemia, Prostate cancer, Hypertriglycer... ORPHA:158057
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Short distal phalanx of finger, Hypoplasia of the zygomatic bone, Bifid scrotum, Genu valgum, Hyp... ORPHA:1295
Lipe-Related Familial Partial Lipodystrophy
Polycystic ovaries, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Abn... ORPHA:435660
Tangier Disease
Elevated circulating apolipoprotein A-II concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Dysostosis, Stanescu Type
Hypoplasia of the maxilla, Carious teeth, Abnormal epiphysis morphology, Micromelia, Massively th... ORPHA:1798
Obesity Due To Congenital Leptin Deficiency
Decreased testicular size, Hypoplasia of the ovary, Hypergonadotropic hypogonadism, Hypertriglyce... ORPHA:66628
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Micrognathia, Cryptorchidism, Hypocalcemia, Hyponatremia, Hypert... OMIM:618183
Xp21 Deletion Syndrome
Finger clinodactyly, Confusion, Elevated circulating creatine kinase concentration, Hypogonadotro... ORPHA:261476
Mccune-Albright Syndrome
Precocious puberty, Dental malocclusion, Increased circulating cortisol level, Abnormal femur mor... ORPHA:562
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Confusion, Hypocalcemia, Elevated circulating creatine kinase concentration, D... ORPHA:466650
Ataxia With Vitamin E Deficiency
Short term memory impairment, Xanthelasma, Increased LDL cholesterol concentration, Hypercholeste... OMIM:277460
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib... ORPHA:2634
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Genu valgum, Micrognathia, Abnormal metacarpal morphology, H... ORPHA:1452
Eiken Syndrome
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Eruption failure, Long hallux,... OMIM:600002
Lcat Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... ORPHA:650
Acheiropodia
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... ORPHA:931
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia ORPHA:94059
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormality of the vertebral column, Azoospermia, Micrognathia, Hypoplasia of the uterus, Bicornu... OMIM:601076
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Cryptorchidi... OMIM:276820
Familial Partial Lipodystrophy, Dunnigan Type
Advanced eruption of teeth, Hypertriglyceridemia, Polycystic ovaries ORPHA:2348
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Lumbar hyperlordosis, Pes cavus, Hyperlipidemia, Elevat... OMIM:615980
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T... ORPHA:755
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Micrognathia, Tibial bowing, Abnormality of the lower limb, Bowing of the long bon... ORPHA:3035
Campomelic Dysplasia
Small abnormally formed scapulae, Kyphosis, 11 pairs of ribs, Micrognathia, Femoral bowing, Tibia... ORPHA:140
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... ORPHA:168563
Saul-Wilson Syndrome
Platyspondyly, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of ... OMIM:618150
46,Xy Sex Reversal 3
Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ... OMIM:612965
Pparg-Related Familial Partial Lipodystrophy
Calf muscle pseudohypertrophy, Hypertriglyceridemia, Hyperuricemia, Polycystic ovaries ORPHA:79083
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Seckel Syndrome 1
Ivory epiphyses, Clitoral hypertrophy, Dental malocclusion, Sandal gap, Hypoplasia of proximal ra... OMIM:210600
Lipodystrophy, Familial Partial, Type 5
Increased C-peptide level, Hypertriglyceridemia OMIM:615238
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... OMIM:274000
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyly, Talipes equinovaru... OMIM:119800
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Abnormal form of the vertebral bodies, Aplasia of the ovary, Endometriosis, Verteb... ORPHA:3109
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Seckel Syndrome 7
Lumbar scoliosis, Hip dysplasia, Clinodactyly of the 5th finger, Hypoplasia of the uterus, Short ... OMIM:614851
46,Xy Sex Reversal 11
Vanishing testis, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dysgenesis with female... OMIM:273250
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Irritab... OMIM:603553
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... OMIM:300106
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Platyspondyly, Rhizomelia, Metaphyseal cupping, Dental malocclusion, Scoliosis, Flared metaphysis... OMIM:608940
Acrofacial Dysostosis, Catania Type
Small hand, Microretrognathia, Carious teeth, Finger syndactyly, Hypoplasia of the zygomatic bone... ORPHA:1786
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Combined Oxidative Phosphorylation Deficiency 55
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Tal... OMIM:619743
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Absent external genitalia, Block vertebrae, Supernumerary vertebrae, Aplasia of the vagina, Short... OMIM:271520
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Micrognathia, Hypoplasia of the zygomatic bone, Supernumerary tooth ORPHA:3145
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Increased circulating free fatty acid level, Hypophosphatemia OMIM:605911
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... OMIM:113310
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Fanconi-Bickel Syndrome
Bowing of the long bones, Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Raine Syndrome
Natal tooth, Micromelia, Long hallux, Micrognathia, Bowing of the long bones, Short neck, Hypopho... OMIM:259775
Werner Syndrome
Hypogonadism, Elevated hemoglobin A1c, Low back pain, Hypertriglyceridemia OMIM:277700
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Micrognathia, Hypertriglyceridemia, Polycystic ovaries, Acroosteolysis of distal phalanges (feet)... ORPHA:280365
Renal And Mullerian Duct Hypoplasia
Micrognathia, Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Seckel Syndrome 10
Cone-shaped epiphysis, Microretrognathia, Slender long bone, Metaphyseal widening, Hypertriglycer... OMIM:617253
Meckel Syndrome 14
Postaxial foot polydactyly, Microretrognathia, Retrognathia, Micrognathia, Talipes, Aplasia of th... OMIM:619879
Orofaciodigital Syndrome X
Finger aplasia, Retrognathia, Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal b... OMIM:165590
19P13.12 Microdeletion Syndrome
Precocious puberty, Toe clinodactyly, Finger syndactyly, Sandal gap, Deep plantar creases, Hyperl... ORPHA:254346
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Depression, Hypercalcemia OMIM:600740
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Micrognathia, Genu valgum, Cryptorchidism, Hypophosphatemia, Patellar dislocation,... ORPHA:534
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... ORPHA:99429
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Decreased HD... OMIM:278000
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Abnormal form of the vertebral bodies, Crypto... ORPHA:3144
Popliteal Pterygium Syndrome
Small scrotum, Fibrous syngnathia, Bifid scrotum, Cutaneous finger syndactyly, Cryptorchidism, Ta... OMIM:119500
46,Xy Sex Reversal 4
Gonadal dysgenesis, Elevated circulating creatinine concentration, Micrognathia, Hypoplastic labi... OMIM:154230
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Bifid scrotum, Bilateral cryptorchidism, Azoospermia, Aplasia of the ovary,... ORPHA:90797
Lipodystrophy, Congenital Generalized, Type 4
Elevated circulating creatine kinase concentration, Hyperlordosis, Hypertriglyceridemia, Scoliosi... OMIM:613327
Cousin Syndrome
Hypoplastic scapulae, Hypoplastic iliac wing, Fibular aplasia, Micrognathia, Dislocation of the f... OMIM:260660
Kyphomelic Dysplasia
Platyspondyly, Radial bowing, Micromelia, Flared metaphysis, Dumbbell-shaped humerus, Micrognathi... OMIM:211350
Bardet-Biedl Syndrome
Fifth finger distal phalanx clinodactyly, Finger syndactyly, Hydrometrocolpos, Cryptorchidism, Em... ORPHA:110
Nager Syndrome
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Hypoplasia of the zygomatic bone, Mi... ORPHA:245
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:618398
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male hypogonadism, Precocious puberty in females, Bifid scrotum, Bilateral cryptorchidism, Ovaria... ORPHA:90793
Hyperlipoproteinemia, Type Id
Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Hyperli... OMIM:615947
Cystinosis
Hypokalemia, Hypophosphatemia ORPHA:213
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Slender long bone, Upper limb undergrowth, Micrognathia, Hypertriglyceridemia... ORPHA:369837
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
Colchicine Poisoning
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Tibial Hemimelia
Absent tibia OMIM:275220
Fibrochondrogenesis 1
Hypoplastic ischia, Platyspondyly, Hypoplastic scapulae, Small hand, Rhizomelia, Broad long bones... OMIM:228520
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Hypoplasia of the zygomatic bone, Genu valgum, Cryptorchidism, Shawl scrotum, Mandibular prognathia ORPHA:1778
Hyperparathyroidism, Neonatal Severe
Metaphyseal irregularity, Hypophosphatemia, Hypercalcemia, Calcinosis OMIM:239200
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Intellectual Disability-Short Stature-Hypertelorism Syndrome
Clinodactyly of the 5th finger, Hypoplasia of the zygomatic bone ORPHA:3074
Acquired Generalized Lipodystrophy
Calf muscle pseudohypertrophy, Hypertriglyceridemia, Abnormal circulating lipid concentration, Po... ORPHA:79086
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp... ORPHA:168558
Mesomelia-Synostoses Syndrome
Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Abnormal vertebr... OMIM:600383
Macrophage Activation Syndrome
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Increased circulating fer... ORPHA:158061
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Irritability ORPHA:369
Occipital Horn Syndrome
Platyspondyly, Aplastic clavicle, Scoliosis, Kyphosis, Humerus varus, Genu valgum, Avascular necr... ORPHA:198
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp... ORPHA:289548
H Syndrome
Hypogonadism, Decreased testicular size, Azoospermia, Pes planus, Camptodactyly, Hallux valgus, H... ORPHA:168569
Glycogen Storage Disease Iii
Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... ORPHA:412
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia, P... ORPHA:79240
Campomelic Dysplasia
Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Hypoplastic cervical verteb... OMIM:114290
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Tali... OMIM:236680
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619313
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Acromelic Frontonasal Dysostosis
Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foot polydactyly, Mesomelic... OMIM:603671
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Fanconi-Bickel Syndrome
Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp... OMIM:227810
Glycogen Storage Disease Ixc
Hypertriglyceridemia OMIM:613027
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Cryptorchidism OMIM:218550
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia, P... ORPHA:264580
Alstrom Syndrome
Hypertriglyceridemia, Hyperuricemia, Polydactyly, Pes planus, Decreased HDL cholesterol concentra... OMIM:203800
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia OMIM:616026
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:540
Hyperlipoproteinemia, Type I
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... OMIM:238600
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Carious teeth, Xanthelasma, Hyperlipidemia, Hyperuricemia, Polycystic ovaries, Hypercholesterolem... ORPHA:79259
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Irritability ORPHA:2089
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Small scrotum, Toe syndactyly, Carious teeth, Finger syndactyly, Hypoplasia of the zygomatic bone... ORPHA:3253
Juvenile Nephropathic Cystinosis
Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, A... ORPHA:411634
Oeis Complex
Congenital hip dislocation, Absence of the sacrum, Ambiguous genitalia, female, 11 pairs of ribs,... OMIM:258040
Lipodystrophy, Familial Partial, Type 2
Labial pseudohypertrophy, Hypertriglyceridemia, Polycystic ovaries, Hypercholesterolemia, Decreas... OMIM:151660
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Decreased HDL cholesterol concentration, Increased ... ORPHA:470
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619802
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Decreased testicular size, Ambiguo... OMIM:202010
Cohen Syndrome
Hypoplasia of the maxilla, Finger syndactyly, Sandal gap, Hypoplasia of the zygomatic bone, Abnor... ORPHA:193
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Chromosome 17Q12 Deletion Syndrome
Scoliosis, Retrognathia, Upper limb undergrowth, Micrognathia, Cryptorchidism, Ovarian cyst, Apla... OMIM:614527
Premature Ovarian Failure 7
Clitoral hypertrophy, Hypoplasia of the uterus, Gonadal dysgenesis OMIM:612964
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hyponatremia, Hypercholesterolemia, Cognitive impairment, Hypertriglyceridemia, Stea... ORPHA:275761
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Short neck, Brachydactyly, Hypoplasia of th... ORPHA:247768
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... OMIM:614841
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Carious teeth, Hypoplasia of the zygomatic bone, Abnormal hip bone morphology, Mandibular prognat... ORPHA:1110
Dent Disease
Renal hypophosphatemia, Delayed epiphyseal ossification, Bulging epiphyses, Elevated circulating ... ORPHA:1652
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Dentinogenesis imperfecta, Kyphosis, Slender long bone, Radial bowing, Femoral bow... OMIM:610915
Treacher Collins Syndrome 3
Micrognathia, Hypoplasia of the zygomatic bone OMIM:248390
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Long foot, Labial hypertrophy, Polycystic ovaries, Large hands, Hypertrigly... OMIM:608594
Cystinosis, Nephropathic
Male hypogonadism, Decreased circulating carnitine concentration, Hypomagnesemia, Hypophosphatemi... OMIM:219800
Amed Syndrome, Digenic
Attention deficit hyperactivity disorder, Hypoplasia of the uterus, Long thumb OMIM:619151
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Toluene Embryopathy
Micrognathia, Hypoplasia of the zygomatic bone, Cryptorchidism, Tapered finger ORPHA:1920
Distal 17P13.1 Microdeletion Syndrome
Retrognathia, Hypoplasia of the zygomatic bone, Abnormal hand morphology, Arachnodactyly, Limitat... ORPHA:319171
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Long foot, Labial hypertrophy, Polycystic ovaries, Large hands, Hypertrigly... OMIM:269700
Mandibuloacral Dysplasia Progeroid Syndrome
Sandal gap, Decreased fibular diameter, Dysplasia of the femoral head, Micrognathia, Genu valgum,... OMIM:619127
Schimke Immuno-Osseous Dysplasia
Platyspondyly, Shallow acetabular fossae, Lumbar hyperlordosis, Hypoplastic pelvis, Hyperlipidemi... ORPHA:1830
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Sandal gap, Micromelia, Broad hallux, Hypoplasia of the zygomatic bone, Short neck, Brachydactyly... OMIM:614800
Townes-Brocks Syndrome 2
Scoliosis, Bifid uterus, Spina bifida occulta, Rectovaginal fistula, Hypospadias OMIM:617466
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia, Cognitive impairment ORPHA:411629
Flat Face-Microstomia-Ear Anomaly Syndrome
Small scrotum, Hypoplasia of the zygomatic bone, Camptodactyly of finger, Micrognathia, Cryptorch... ORPHA:1968
Fanconi Anemia, Complementation Group L
Absent thumb, Hypoplastic sacrum, Micrognathia, Aplasia of the uterus, Attention deficit hyperact... OMIM:614083
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormal fingertip morphology, Short distal phalanx of finger, Micrognathia, Hyperlipidemia, Apla... ORPHA:90154
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Abnormal external genitalia, Aplasia of the fallopian tube, Aplasia of the... OMIM:158330
Aromatase Deficiency
Delayed epiphyseal ossification, Ambiguous genitalia, female, Genu valgum, Female pseudohermaphro... ORPHA:91
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Wiedemann-Rautenstrauch Syndrome
Hypoplastic ilia, Long penis, Natal tooth, Clinodactyly, Slender long bone, Delayed eruption of t... OMIM:264090
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... ORPHA:325124
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Hypoplasia of t... ORPHA:989
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Depression, Non-obstructive azoospermia, Decreased testicular size, Azoospermi... ORPHA:432
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... OMIM:614837
Proteasome-Associated Autoinflammatory Syndrome 3
Finger swelling, Hypertriglyceridemia OMIM:617591
Wiedemann-Rautenstrauch Syndrome
Natal tooth, Cryptorchidism, Hypospadias, Irregular sclerotic endplates, Hypoplastic ilia, Wide p... ORPHA:3455
Methanol Poisoning
Confusion, Hyperlipidemia ORPHA:31825
Perrault Syndrome 4
Hypoplasia of the uterus, Hypoplasia of the ovary, Cognitive impairment, Bicornuate uterus OMIM:615300
Meckel Syndrome 12
Vaginal atresia, Hypoplasia of the uterus, Micrognathia, Rocker bottom foot OMIM:616258
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Testicular neoplasm, Hypercalcemia, Mandibular pain, Uterine leiomyoma ORPHA:99880
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Cryptorchidism, ... ORPHA:1827
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Severe Oculo-Renal-Cerebellar Syndrome
Mandibular prognathia, Scoliosis, Hypoplasia of the zygomatic bone, Sandal gap ORPHA:2715
Otopalatodigital Syndrome, Type Ii
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia... OMIM:304120
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hyponatremia, Cognitive impairment, Hypertriglyceri... ORPHA:167
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Sandal gap, Hypoplasia of the zygomatic bone, Retrognathia, Abnormal dental enamel morphology, Cr... ORPHA:1812
Parathyroid Carcinoma
Hypophosphatemia, Testicular neoplasm, Hypercalcemia, Mandibular pain, Uterine leiomyoma ORPHA:143
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Carpal synostosis, Cryptorchidism, Ovarian cyst, Polycystic ... OMIM:201750
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:98907
Perrault Syndrome 3
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:614129
Mandibuloacral Dysplasia With Type B Lipodystrophy
Micrognathia, Hyperlipidemia, Short clavicles, Acroosteolysis of distal phalanges (feet), Osteoly... OMIM:608612
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Memory impairment, Depression, Increased circulating cortisol level, Hyperaldosteronism, Hyperlip... ORPHA:189427
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Micrognathia, Hyperlipidemia, Down-sloping shoulders, Short clavi... OMIM:248370
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in females, Premature fusion of the radial e... ORPHA:90794
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Autosomal Recessive Malignant Osteopetrosis
Abnormal epiphysis morphology, Delayed eruption of teeth, Hypocalcemia, Bowing of the long bones,... ORPHA:667
Alagille Syndrome 1
Short distal phalanx of finger, Hypercholesterolemia, Hypoplasia of the ulna, Butterfly vertebral... OMIM:118450
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Metaphyseal irregularity, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis, Early ... OMIM:208500
Atypical Werner Syndrome
Rocker bottom foot, Finger clinodactyly, Hypogonadism, Micrognathia, Intervertebral disk degenera... ORPHA:79474
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Uterus didelphys, Septate vagina, Hypocalcemia, Aplasia of the uterus, Vaginal atresia, Hypocalce... ORPHA:2237
Antley-Bixler Syndrome
Hypoplasia of the zygomatic bone, Camptodactyly of finger, Femoral bowing, Arachnodactyly, Talipe... ORPHA:83
Alport Syndrome 3A, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
Prolidase Deficiency
Carious teeth, Palmoplantar keratoderma, Hypoplasia of the zygomatic bone, Abnormal hip bone morp... ORPHA:742
Familial Multiple Lipomatosis
Bowing of the long bones, Premature eruption of permanent teeth, Hyperlipidemia ORPHA:199276
Hajdu-Cheney Syndrome
Short distal phalanx of finger, Coarse metaphyseal trabecularization, Short toe, Abnormal mandibl... ORPHA:955
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micromelia, Preaxial hand polydactyly, Campto... ORPHA:2753
Proteasome-Associated Autoinflammatory Syndrome 1
Hypoplastic scapulae, Finger swelling, Camptodactyly of finger, Clubbing of fingers, Hypertriglyc... OMIM:256040
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Pedal edema, Increased al... ORPHA:86816
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Microretrognathia, Hypoplasia of the zygomatic bone, Talipes equinovarus, Hydrocele testis, Mandi... OMIM:613603
Gaisböck Syndrome
Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin... ORPHA:90041
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
46,Xx Sex Reversal 2
Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo... OMIM:278850
Primary Fanconi Renotubular Syndrome
Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi... ORPHA:3337
Ulbright-Hodes Syndrome
Abnormal penis morphology, Mesomelia, Clitoral hypertrophy, Abnormal forearm bone morphology, Fib... ORPHA:3404
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary OMIM:612310
Wolf-Hirschhorn Syndrome
Micrognathia, Cryptorchidism, Talipes equinovarus, Radioulnar synostosis, Short hallux, Hypospadi... OMIM:194190
X-Linked Mandibulofacial Dysostosis
Micrognathia, Hypoplasia of the zygomatic bone, Cryptorchidism ORPHA:1131
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Hypomagnesemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated c... ORPHA:79102
Charge Syndrome
Bifid femur, Short thumb, Hand monodactyly, External genital hypoplasia, Micrognathia, Cryptorchi... OMIM:214800
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microretrognathia, Hypertriglyceridemia OMIM:619418
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Lumbar Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u... ORPHA:83628
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus, Retrognathia ORPHA:2736
Chronic Visceral Acid Sphingomyelinase Deficiency
Depression, Abnormal circulating lipid concentration, Decreased HDL cholesterol concentration, In... ORPHA:77293
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619203
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619665
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Hypoplasia of the zygomatic bone ORPHA:2835
Hemophagocytic Syndrome Associated With An Infection
Hyperproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:158048
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Woodhouse-Sakati Syndrome
Mental deterioration, Hypogonadism, Decreased testicular size, Streak ovary, Hyperlipidemia, Abno... ORPHA:3464
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Aplasia of the vagina, Postaxial polydactyly, Aplasia of the uterus, Hip dysplasia,... ORPHA:457284
Pearson Syndrome
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hypophosphatemia, Hyperalaninemia, Steatorrhea ORPHA:699
Glycerol Kinase Deficiency
Hyperglycerolemia, Cryptorchidism, Hypertriglyceridemia OMIM:307030
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Abnormal circulating corticosterone level, Decreased testicular size, Cryptorchidism, Polycystic ... ORPHA:90796
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia OMIM:610717
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Hypoplasia of the uterus, Attention deficit hyperactivity disorder OMIM:617914
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia, Cog... OMIM:235400
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
Myoectodermal Gonadal Dysgenesis Syndrome
Bifid distal phalanx of toe, Gonadal dysgenesis, Cutaneous finger syndactyly, Bifid distal phalan... OMIM:618419
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Cryptorchidism, Aplasia/Hypoplasia of the patella, Dislocated radial head, ... OMIM:135900
Townes-Brocks Syndrome 1
Broad thumb, Cryptorchidism, Pseudoepiphyses of second metacarpal, Talipes, Rectoperineal fistula... OMIM:107480
Kinsship Syndrome
Sacral dimple, Micrognathia, Fibular hypoplasia, Polydactyly, Coxa valga, Pes planus, Short neck,... OMIM:619297
Holoprosencephaly
Hypoplasia of the zygomatic bone, Abnormal form of the vertebral bodies, Cryptorchidism, Hyponatr... ORPHA:2162
Cholestasis-Lymphedema Syndrome
Hyperlipidemia ORPHA:1414
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Palmoplantar keratoderma, Hypoplasia of the zygomatic bone, Bifid scrotum, Cryptorchidism, Promin... ORPHA:1555
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Marshall Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Genu valgum, Micrognathia, Hypoplast... ORPHA:560
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Short distal phalanx of finger, Hypoplasia of the uterus, Clinodactyly OMIM:615866
Osteopathia Striata With Cranial Sclerosis
Thoracolumbar kyphosis, Natal tooth, Dental malocclusion, Fibular aplasia, Micrognathia, Fibular ... OMIM:300373
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Septate vagina, Uterus didelphys, Aplasia of the vagina OMIM:146255
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Hypokalemia, Hypertriglyceridemia OMIM:619573
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Cardiofaciocutaneous Syndrome
Palmoplantar keratoderma, Hypoplasia of the zygomatic bone, Genu valgum, Cryptorchidism, Abnormal... ORPHA:1340
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia, Back pain ORPHA:439232
Cranioectodermal Dysplasia 1
Short distal phalanx of finger, Rhizomelia, Clinodactyly, Short toe, Radial deviation of finger, ... OMIM:218330
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Bicarbonaturia OMIM:229600
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Hyperlipidemia, Aplasia/Hypoplasia of the clavicles, Acroosteolys... ORPHA:90153
Woodhouse-Sakati Syndrome
Decreased testicular size, Hyperlipidemia, Hypogonadotropic hypogonadism, Micropenis, Hypoplasia ... OMIM:241080
Neu-Laxova Syndrome 1
Toe syndactyly, Finger syndactyly, Clinodactyly, Micromelia, Radial deviation of finger, Microgna... OMIM:256520
Treacher-Collins Syndrome
Small scrotum, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Retrognathia, Abnorma... ORPHA:861