banner
Genes Phenotypes Help, News, Blog

Gene: Colec10 MGI:3606482

Log in to follow

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 triglyceride level Colec10em2(IMPC)Tcp HOM Early adult 8.32×10-05
decreased exploration in new environment Colec10em2(IMPC)Tcp HOM Early adult 8.86×10-08
short tibia Colec10em2(IMPC)Tcp HOM Early adult 1.96×10-05
abnormal zygomatic bone morphology Colec10em2(IMPC)Tcp HOM Early adult 2.66×10-06
decreased prepulse inhibition Colec10em2(IMPC)Tcp HOM   Early adult 4.17×10-05
abnormal uterus morphology Colec10em2(IMPC)Tcp HOM Early adult 0.00
abnormal vertebrae morphology Colec10em2(IMPC)Tcp HOM Early adult 1.72×10-11
increased circulating phosphate level Colec10em2(IMPC)Tcp HOM Early adult 4.54×10-05
decreased body length Colec10em2(IMPC)Tcp HOM Early adult 8.05×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

View images
X-ray

XRay Images Skull Lateral Orientation

16 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

16 Images

View images
Gross Pathology and Tissue Collection

Images

8 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

16 Images

View images
FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

4 Images

View images
FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

4 Images

View images

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
Hyperlordosis, Bilateral cryptorchidism, Hip dislocation, Radioulnar synostosis, Prominent coccyx... ORPHA:293843
3Mc Syndrome 3
Bifid scrotum, Sacral dimple, Cryptorchidism, Clinodactyly, Preaxial polydactyly, Radioulnar syno... 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
Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal,... OMIM:118651
Pseudopseudohypoparathyroidism
Short distal phalanx of the 3rd finger, Short metatarsal, Hyperphosphatemia, Short 5th finger, Hy... ORPHA:79445
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Short metacarpal, Short neck, Short toe, Short metatarsal, Hyperphosph... OMIM:103580
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Short metacarpal, Short neck, Short metatarsal, Hyperphosphatemia, Hyp... OMIM:612462
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... OMIM:112910
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... OMIM:249700
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Hyperphosphatemia, Hypocalcemia, Brachydactyly OMIM:603233
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Hypoparathyroidism, Familial Isolated, 1
Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal... OMIM:101800
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Pseudohypoparathyroidism Type 1C
Calcinosis, Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Hypergonadotropi... ORPHA:79444
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Vitamin D-Dependent Rickets, Type 3
Bowing of the legs, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Metaphyseal cupping, Genu ... OMIM:619073
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia OMIM:232700
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Autoimmune Hypoparathyroidism
Confusion, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypoca... ORPHA:36913
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Micrognathia, Cryptorchidism, Small hand, Short foot, Hyperphosphatemia, Hypocalcemia, Short palm... OMIM:241410
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Bowing of the legs, Abnormal circulating calcium concentration, Ena... OMIM:307800
Sanjad-Sakati Syndrome
Hypoplasia of penis, Abnormal dental enamel morphology, Micrognathia, Cryptorchidism, Small hand,... ORPHA:2323
Glycosylphosphatidylinositol Biosynthesis Defect 17
Clinodactyly of the 5th finger, Hypertriglyceridemia, Clinodactyly of the 5th toe OMIM:618010
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Pseudohypoparathyroidism Type 1B
Calcinosis, Delayed eruption of teeth, Cortical subperiosteal resorption of humeral metaphyses, S... ORPHA:94089
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... OMIM:612447
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Oligozoospermia, Increased LDL cho... OMIM:615703
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Hypoplastic labia majora, Disproporti... OMIM:619217
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... ORPHA:93322
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Pseudohypoparathyroidism Type 1A
Short neck, Short metatarsal, Hypocalcemia, Hypocalcemic tetany, Broad distal phalanx of the thum... ORPHA:79443
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... OMIM:156500
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Micrognathia ORPHA:436182
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Hypertriglyceridemia OMIM:615924
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... OMIM:605274
Temple Syndrome
Hypertriglyceridemia, Micrognathia, Precocious puberty, Cryptorchidism, Small hand, Short foot, S... OMIM:616222
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Paget Disease Of Bone 5, Juvenile-Onset
Short humerus, Bowing of the long bones, Kyphosis, Hydroxyprolinemia, Lateral femoral bowing, Hyp... OMIM:239000
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Linear Verrucous Nevus Syndrome
Short metacarpal, Toe syndactyly, Genu recurvatum, Talipes, Scoliosis, Hypophosphatemia, Mental d... ORPHA:2611
Bent Bone Dysplasia Syndrome 2
Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing, Coronal cle... OMIM:620076
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:607616
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia OMIM:610947
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subp... OMIM:264700
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Small scrotum, Hypospadias, Rhizomelia, Short femur, Sandal gap, Cryptorchidism, H... OMIM:607143
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Pulp calcification, Hyperphosphatemia, Taurodontia, Enamel hypoplasia OMIM:211900
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... OMIM:201170
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... ORPHA:3344
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Cari... OMIM:277440
Atelosteogenesis Type Iii
Absent humerus, Abnormal cervical curvature, Epiphyseal stippling of the humerus, Short tubular b... ORPHA:56305
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Achilles tendon calcification, Hyperphosphatemia, Metacarpal periosteal thickening, Hypercalcemia OMIM:617994
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Fatigable weakness of swallowing muscles, Hyperpho... ORPHA:99845
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... ORPHA:3320
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Metaphyseal widening, Dental malocclusion, ... OMIM:608940
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... ORPHA:1106
Autosomal Dominant Hypocalcemia
Depression, Fatigable weakness, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Emotional lability ORPHA:428
Femoral-Facial Syndrome
Short femur, Micrognathia, Cryptorchidism, Abnormal sacrum morphology, Long penis, Coxa vara, Abn... ORPHA:1988
Weismann-Netter Syndrome
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, De... OMIM:112350
Slc35A2-Cdg
Increased circulating thyroglobulin level, Camptodactyly of finger, Coxa valga, Precocious pubert... ORPHA:356961
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification... OMIM:600081
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... OMIM:268305
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Plin1-Related Familial Partial Lipodystrophy
Calf muscle hypertrophy, Hypertriglyceridemia, Polycystic ovaries ORPHA:280356
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration OMIM:610717
Autosomal Dominant Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Thin long bone diaphyses, Persistence of prim... ORPHA:93325
Stuve-Wiedemann Syndrome 1
Micrognathia, Short neck, Tibial bowing, Knee flexion contracture, Femoral bowing, Short tibia, S... OMIM:601559
Atelosteogenesis, Type Iii
Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Micrognat... OMIM:108721
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... OMIM:258860
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Abnormal form of the vertebral bodies, Genu valgum, Hypocal... ORPHA:93160
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Oncogenic Osteomalacia
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Abnor... ORPHA:352540
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Short neck, Kyphos... ORPHA:958
Microcephaly-Micromelia Syndrome
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, Sho... OMIM:251230
Smith-Magenis Syndrome
Mandibular prognathia, Pes planus, Hypertriglyceridemia, Toe syndactyly, Delayed eruption of prim... ORPHA:819
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Abnormal circulating calcium co... OMIM:241530
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Smith-Magenis Syndrome
Mandibular prognathia, Pes planus, Hypertriglyceridemia, Scoliosis, Short palm, Hypercholesterole... OMIM:182290
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Enlargement of the ankles, Irregular, rachitic-like metaphyses, Subper... ORPHA:289157
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Micrognathia, Cryptorchidism, Kyphosis, Scoliosis, Male hypogonadism OMIM:615381
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Flared metaphysis, Coxa v... OMIM:602111
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Opsismodysplasia
Short metacarpal, Rhizomelia, Short neck, Hypoplasia of the odontoid process, Squared iliac bones... OMIM:258480
Hypophosphatemic Bone Disease
Bowing of the legs, Hypophosphatemia OMIM:146350
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Eiken Syndrome
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... ORPHA:79106
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Abno... OMIM:127000
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... ORPHA:85188
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... ORPHA:94093
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Sh... OMIM:609945
Fibrous Dysplasia Of Bone
Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Pre... ORPHA:249
Satoyoshi Syndrome
Abnormality of the knee, Tapered finger, Abnormality of the humerus, Hyperlordosis, Abnormal femu... ORPHA:3130
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification... OMIM:300554
Metaphyseal Chondrodysplasia, Jansen Type
Hip contracture, Bowing of the long bones, Hypercalcemia, Micrognathia, Metaphyseal chondrodyspla... OMIM:156400
Congenital Generalized Lipodystrophy
Mandibular prognathia, Overgrowth of external genitalia, Hypertriglyceridemia, Precocious puberty... ORPHA:528
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlordosi... ORPHA:98855
Shox-Related Short Stature
Micrognathia, Short neck, Genu valgum, Short foot, Tibial bowing, Forearm undergrowth, Lower limb... ORPHA:314795
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the... ORPHA:1788
Autosomal Dominant Hypophosphatemic Rickets
Tooth abscess, Bowing of the legs, Hypocalcemia, Hypophosphatemia ORPHA:89937
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal ... OMIM:609441
Papular Xanthoma
Hyperlipidemia ORPHA:158008
X-Linked Hypophosphatemia
Shortening of the talar neck, Bowing of the long bones, Odontodysplasia, Bowing of the legs, Sacr... ORPHA:89936
Omodysplasia 2
Short humerus, Hypospadias, Micrognathia, Cryptorchidism, Anterior wedging of T11, Uterus didelph... OMIM:164745
Rajab Interstitial Lung Disease With Brain Calcifications 2
Arachnodactyly, Hypertriglyceridemia, Hypoalbuminemia, Scoliosis OMIM:619013
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Talipes equ... OMIM:620306
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Short neck, ... ORPHA:98863
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Confusion, H... ORPHA:247585
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Dent Disease 2
Elevated circulating creatine kinase concentration, Cognitive impairment, Hypophosphatemia OMIM:300555
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Fe... OMIM:223800
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Orofaciodigital Syndrome Type 2
Micrognathia, Finger clinodactyly, Short tibia, Finger syndactyly, Broad hallux, Adactyly, Talon ... ORPHA:2751
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Acromesomelic Dysplasia 2B
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... OMIM:228900
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypospadias, External genital hypoplasia, Ovotestis, Palmoplantar keratoder... OMIM:610644
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Septate vagina, Micrognathia, Postaxial polydactyly, Short neck, Preaxial polydactyl... OMIM:617925
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... OMIM:227270
Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlordosi... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlordosi... ORPHA:98853
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... ORPHA:2378
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Natal tooth, Rhizomelia, Postaxial polydactyly, Cryptorchidism, Squared iliac ... OMIM:616300
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Progressive psychomotor deterioration, Cognitive impairment ORPHA:363400
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Confusion, Hyperammonemia, Hyperargininemia, Elevated plasma citrulline OMIM:603471
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Hypoplasia of the ovary, Emotional lability... ORPHA:179494
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Abnormality of the lower limb, Hypophosphatemia OMIM:193100
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Genu valgum, Hypophosphatemia OMIM:618913
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Satoyoshi Syndrome
Pes planus, Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, ... OMIM:600705
Spondyloepimetaphyseal Dysplasia, Shohat Type
Bowing of the legs, Short neck, Hyperlordosis, Delayed epiphyseal ossification, Metaphyseal widen... ORPHA:93352
Phocomelia, Schinzel Type
Hypoplasia of penis, Radial bowing, Bowing of the long bones, Talipes, Micromelia, Micrognathia, ... ORPHA:2879
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Renal hypophosphatemia, Rickets of the lower limbs, Lower limb asymmet... ORPHA:289176
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... ORPHA:85170
Orofaciodigital Syndrome Ix
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly OMIM:258865
Reni Syndrome
Hypertriglyceridemia, Cryptorchidism, Hypogonadism, Hypoalbuminemia, Mental deterioration, Microp... OMIM:617575
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:613101
Microtriplication 11Q24.1
Short neck, Metatarsus adductus, Hyperlipidemia, Small hand, Genu valgum, Short foot, Talipes equ... ORPHA:289522
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia OMIM:620282
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Polycystic ovaries OMIM:604367
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Crypto... OMIM:258315
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Classical-Like Ehlers-Danlos Syndrome Type 2
Hallux valgus, Pes planus, Thoracic scoliosis, Hypertriglyceridemia, Arachnodactyly, Sandal gap, ... ORPHA:536532
Dent Disease 1
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification... OMIM:300009
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, External genital hypoplasia, Micrognathia, Hypoplasia of the maxilla, Shor... ORPHA:96334
Mandibuloacral Dysplasia
Hypertriglyceridemia, Micrognathia, Increased circulating free fatty acid level, Hypoplasia of te... ORPHA:2457
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Hypoplasia of the premaxilla, Fused labia minora, Micrognathia, Ambiguous genitalia, female, Defo... ORPHA:2975
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Kyphoscoliosis, Micrognathia, Missi... OMIM:200980
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormal ver... ORPHA:1427
Pfeiffer Syndrome
Mandibular prognathia, Finger syndactyly, Brachydactyly, Short neck, Hyperlordosis, Symphalangism... ORPHA:710
Microphthalmia With Limb Anomalies
Sacral dimple, Toe syndactyly, Unilateral cryptorchidism, Sandal gap, Capitate-hamate fusion, 2-3... OMIM:206920
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Bowing... ORPHA:157215
Atelosteogenesis, Type I
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia... OMIM:108720
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... ORPHA:158057
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... OMIM:263520
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Hemorrhagic Fever-Renal Syndrome
Back pain, Confusion, Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia ORPHA:340
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Abnormal vertebral morphology, Vert... ORPHA:93315
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Polycystic ovaries ORPHA:79085
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Lipe-Related Familial Partial Lipodystrophy
Abnormal labia majora morphology, Hypertriglyceridemia, Elevated circulating creatine kinase conc... ORPHA:435660
Cidec-Related Familial Partial Lipodystrophy
Calf muscle hypertrophy, Hypertriglyceridemia, Polycystic ovaries ORPHA:435651
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:618620
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Confusion, Hyperkalemia, Hyperphosphatemia, H... ORPHA:466650
Xp21 Deletion Syndrome
Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent... ORPHA:261476
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Temporomandibular joint ankylosis, Lateral humeral condyle aplasia, Fi... OMIM:164900
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplasia of th... ORPHA:66628
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Bifid scrotum, Hypoplasia of penis, Brachydactyly, Hypogonadotropic hypogonadism, Genu valgum, Hy... ORPHA:1295
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... OMIM:171480
Dysostosis, Stanescu Type
Bowing of the long bones, Abnormal dental enamel morphology, Micromelia, Short neck, Hypoplasia o... ORPHA:1798
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Macroorchidism, Precocious puberty, Dental malocclusion, Abnorma... ORPHA:562
Familial Partial Lipodystrophy, Dunnigan Type
Advanced eruption of teeth, Hypertriglyceridemia, Polycystic ovaries ORPHA:2348
Cleidocranial Dysplasia
Mandibular prognathia, Micrognathia, Coxa vara, Hypoplastic inferior ilia, Clinodactyly of the 5t... ORPHA:1452
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vert... ORPHA:3109
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia,... OMIM:277460
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Hyperlipidemia, Depression, Dementia, Abnormal emotion, Increased circulati... ORPHA:444490
Fibular Dimelia-Diplopodia Syndrome
Absent tibia, Sacrococcygeal teratoma ORPHA:1757
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Micrognathia, Hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Abnormality of the verteb... OMIM:601076
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... ORPHA:2634
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia, Cognitive impairment ORPHA:364
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Micrognathia, Cryptorchidism, Hypoalbuminemia, Hypocalcemia, ... OMIM:618183
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, ... OMIM:276820
Eiken Syndrome
Broad femoral neck, Persistence of primary teeth, Delayed epiphyseal ossification, Clinodactyly, ... OMIM:600002
Alstrom Syndrome
Pes planus, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hypo... OMIM:203800
Pparg-Related Familial Partial Lipodystrophy
Calf muscle pseudohypertrophy, Hypertriglyceridemia, Hyperuricemia, Polycystic ovaries ORPHA:79083
Campomelic Dysplasia
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... ORPHA:140
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... OMIM:274000
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen ORPHA:94059
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... OMIM:618150
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Increased C-peptide level OMIM:615238
Seckel Syndrome 1
11 pairs of ribs, Pes planus, Ivory epiphyses, Hypospadias, Abnormal finger flexion crease, Sanda... OMIM:210600
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormality... ORPHA:3035
Acromelic Frontonasal Dysostosis
Syndactyly, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia,... OMIM:603671
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Anterior wedging of T12, Long fibula, Short palm, Short phalanx of fin... OMIM:300106
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... ORPHA:168563
Combined Oxidative Phosphorylation Deficiency 55
Elevated circulating creatine kinase concentration, Hypomagnesemia, Talipes equinovarus, Hypophos... OMIM:619743
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Irritability, H... OMIM:603553
Lipodystrophy, Familial Partial, Type 6
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Hyperlipidemia, Abnorma... OMIM:615980
Seckel Syndrome 7
Abnormal carpal morphology, Hypoplasia of the uterus, Hip dysplasia, Lumbar scoliosis, Clinodacty... OMIM:614851
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... OMIM:119800
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... OMIM:612965
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Fanconi-Bickel Syndrome
Bowing of the long bones, Hypertriglyceridemia, Hypophosphatemia ORPHA:2088
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acroosteolysis of distal phalanges... ORPHA:280365
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Missing ribs, Absent external genitalia, Short neck, Hemiverte... OMIM:271520
Werner Syndrome
Low back pain, Hypertriglyceridemia, Hypogonadism, Elevated hemoglobin A1c OMIM:277700
Acrofacial Dysostosis, Catania Type
Microretrognathia, Finger syndactyly, Hypospadias, Carious teeth, Cryptorchidism, Small hand, Hyp... ORPHA:1786
Raine Syndrome
Mandibular prognathia, Natal tooth, Bowing of the long bones, Micromelia, Micrognathia, Short nec... OMIM:259775
Seckel Syndrome 10
Microretrognathia, Hypertriglyceridemia, Elevated hemoglobin A1c, Metaphyseal widening, Cone-shap... OMIM:617253
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
46,Xy Sex Reversal 11
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... OMIM:273250
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia ORPHA:3145
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Hypoammonemia, Micrognathia, Hyponatremia, Abnormal dental enamel morpholo... ORPHA:534
Geroderma Osteodysplasticum
Mandibular prognathia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Kyph... OMIM:231070
Hypocalciuric Hypercalcemia, Familial, Type Iii
Depression, Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Meckel Syndrome 14
Microretrognathia, Syndactyly, Bowing of the long bones, Talipes, Postaxial polydactyly, Microgna... OMIM:619879
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... OMIM:278000
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Micrognathia, Precocious puberty, Upper limb undergrowth, Sl... ORPHA:369837
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperl... OMIM:613327
Cousin Syndrome
Micrognathia, Short neck, Ambiguous genitalia, female, Prominent protruding coccyx, Ambiguous gen... OMIM:260660
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Aplasia of the ulna, Absen... OMIM:142900
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Metaphyseal irregularity, Hypophosphatemia OMIM:239200
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Retrognathia, Fibular ... OMIM:165590
Cystinosis
Hypokalemia, Hypophosphatemia ORPHA:213
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus, Micrognathia OMIM:266810
Nager Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of the maxilla, Abnormality of the lowe... ORPHA:245
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
19P13.12 Microdeletion Syndrome
Finger syndactyly, Toe clinodactyly, Hypospadias, Sandal gap, Short neck, Precocious puberty, Cry... ORPHA:254346
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... ORPHA:158061
Chylomicron Retention Disease
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
Complete Androgen Insensitivity Syndrome
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... ORPHA:99429
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Hypospadias, Precocious puberty in females, ... ORPHA:90793
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... ORPHA:90797
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:618398
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615947
Fibrochondrogenesis 1
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... OMIM:228520
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Fibrous syngnathia, Hypop... OMIM:119500
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Micrognathia, Elevated circulating creatinine concentration, Agon... OMIM:154230
Acquired Generalized Lipodystrophy
Polycystic ovaries, Calf muscle pseudohypertrophy, Abnormal circulating lipid concentration, Hype... ORPHA:79086
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, P... ORPHA:79240
Occipital Horn Syndrome
Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h... ORPHA:198
H Syndrome
Hallux valgus, Pes planus, Hypertriglyceridemia, Azoospermia, Hypogonadism, Camptodactyly, Microp... ORPHA:168569
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Mandibular prognathia, Cryptorchidism, Genu valgum, Hypoplasia of the zygomatic bone, Shawl scrotum ORPHA:1778
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... OMIM:600383
Campomelic Dysplasia
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... OMIM:114290
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Female external genitalia in individual with ... ORPHA:168558
Glycogen Storage Disease Ixc
Hypertriglyceridemia OMIM:613027
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... ORPHA:412
Hydrolethalus Syndrome 1
Hypospadias, Micrognathia, Bifid uterus, Preaxial hand polydactyly, Postaxial hand polydactyly, D... OMIM:236680
Intellectual Disability-Short Stature-Hypertelorism Syndrome
Clinodactyly of the 5th finger, Hypoplasia of the zygomatic bone ORPHA:3074
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Female external genitalia in individual with ... ORPHA:289548
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, P... ORPHA:264580
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Irritability, Hyperlipidemia ORPHA:369
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Tibial Hemimelia
Absent tibia OMIM:275220
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619313
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia ORPHA:329249
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... OMIM:238600
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Glycogen Storage Disease Iii
Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619802
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Carious teeth, Hyperlipidemia, Polycystic ovaries, Xanthelasma, Delayed eru... ORPHA:79259
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Labial pseudohypertrophy, Polycyst... OMIM:151660
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... OMIM:227810
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Small scrotum, Toe syndactyly, Abnormal dental enamel morphology, Micrognathia... ORPHA:3253
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Abnormal long bone mor... ORPHA:411634
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia OMIM:616026
Lysosomal Acid Lipase Deficiency
Hyponatremia, Psychomotor deterioration, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Cogniti... ORPHA:275761
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... ORPHA:470
Chromosome 17Q12 Deletion Syndrome
Mandibular prognathia, Long toe, Micrognathia, Cryptorchidism, Long fingers, Upper limb undergrow... OMIM:614527
Cohen Syndrome
Finger syndactyly, Arachnodactyly, Sandal gap, Micrognathia, Hypoplasia of the maxilla, Cryptorch... ORPHA:193
Oeis Complex
11 pairs of ribs, Absence of the sacrum, Congenital hip dislocation, Bifid uterus, Epispadias, Cr... OMIM:258040
Lipodystrophy, Congenital Generalized, Type 1
Mandibular prognathia, Hypertriglyceridemia, Labial hypertrophy, Polycystic ovaries, Large hands,... OMIM:608594
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Müllerian Aplasia And Hyperandrogenism
Short neck, Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Brach... ORPHA:247768
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Lipodystrophy, Congenital Generalized, Type 2
Mandibular prognathia, Hypertriglyceridemia, Elevated hemoglobin A1c, Labial hypertrophy, Polycys... OMIM:269700
Dent Disease
Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Renal hypophosphatemia, Elevate... ORPHA:1652
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Mandibular prognathia, Carious teeth, Hypoplasia of the zygomatic bone, Abnormal hip bone morphol... ORPHA:1110
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Sandal gap, Elevated hemoglobin A1c, Decreased fibular diameter, Micrognath... OMIM:619127
Premature Ovarian Failure 7
Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy OMIM:612964
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Osteogenesis Imperfecta, Type Viii
Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Tibial bowing, Femoral bowing, S... OMIM:610915
Amed Syndrome, Digenic
Hypoplasia of the uterus, Long thumb, Attention deficit hyperactivity disorder OMIM:619151
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Distal 17P13.1 Microdeletion Syndrome
Arachnodactyly, Abnormal hand morphology, Hypoplasia of the zygomatic bone, Retrognathia, Limitat... ORPHA:319171
Cystinosis, Nephropathic
Hyponatremia, Progressive neurologic deterioration, Metaphyseal widening, Reduced blood urea nitr... OMIM:219800
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal blood ion concentration, Cognitive impairment, Hypophosphatemia ORPHA:411629
Treacher Collins Syndrome 3
Hypoplasia of the zygomatic bone, Micrognathia OMIM:248390
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Broad hallux, Sandal gap, Micromelia, Short neck, Hypoplasia of the zygomatic bone, B... OMIM:614800
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Irritability, Hyperlipidemia ORPHA:2089
Wiedemann-Rautenstrauch Syndrome
Delayed eruption of teeth, Natal tooth, Long toe, Hypertriglyceridemia, Hypospadias, Short femur,... OMIM:264090
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Absent thumb, Absent radius, Micrognathia, Short neck, Bilateral talipes equi... OMIM:614083
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Toluene Embryopathy
Cryptorchidism, Tapered finger, Hypoplasia of the zygomatic bone, Micrognathia ORPHA:1920
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... OMIM:614841
Flat Face-Microstomia-Ear Anomaly Syndrome
Small scrotum, Camptodactyly of finger, Micrognathia, Cryptorchidism, Hypoplasia of the zygomatic... ORPHA:1968
Chédiak-Higashi Syndrome
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Dementia, Cogni... ORPHA:167
Proteasome-Associated Autoinflammatory Syndrome 3
Finger swelling, Hypertriglyceridemia OMIM:617591
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Aplasia/Hypoplasia of the clavicles, Abnormal fingertip morphology, Micrognathia, Hyp... ORPHA:90154
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Micrognathia, Adactyly, Split hand, Aplasia/Hypoplasia of finge... ORPHA:989
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula, Scoliosis, Spina bifida occulta OMIM:617466
Schimke Immuno-Osseous Dysplasia
Wide capital femoral epiphyses, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Abnorma... ORPHA:1830
Wiedemann-Rautenstrauch Syndrome
Wide penis, Hypoplastic vertebral bodies, Long toe, Hypogonadotropic hypogonadism, Hypospadias, C... ORPHA:3455
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... OMIM:158330
Perrault Syndrome 4
Hypoplasia of the uterus, Cognitive impairment, Bicornuate uterus, Hypoplasia of the ovary OMIM:615300
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Testicular neoplasm, Uterine leiomyoma, Hypophosphatemia, Mandibular pain ORPHA:99880
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Severe Oculo-Renal-Cerebellar Syndrome
Mandibular prognathia, Scoliosis, Hypoplasia of the zygomatic bone, Sandal gap ORPHA:2715
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Meckel Syndrome 12
Hypoplasia of the uterus, Rocker bottom foot, Vaginal atresia, Micrognathia OMIM:616258
Parathyroid Carcinoma
Hypercalcemia, Testicular neoplasm, Uterine leiomyoma, Hypophosphatemia, Mandibular pain ORPHA:143
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Bowing of the long bones, Hypocalcemia, Abnormal epiphysis morphology,... ORPHA:667
Hereditary Fructose Intolerance
Hypermagnesemia, Hyperuricemia, Hypophosphatemia ORPHA:469
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Hemiverte... OMIM:201750
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration ORPHA:98907
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... OMIM:614837
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Micrognathia, Short neck, Short metatarsal, Femoral bowing, Tibial bo... OMIM:304120
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Sandal gap, Abnormal dental enamel morphology, Cryptorchidism, Abnormal fibu... ORPHA:1812
Alagille Syndrome 1
Hypoplasia of the ulna, Hypertriglyceridemia, Hemivertebrae, Hypercholesterolemia, Butterfly vert... OMIM:118450
Atypical Werner Syndrome
Pes planus, Hypertriglyceridemia, Rocker bottom foot, Micrognathia, Osteolytic defects of the pha... ORPHA:79474
Methanol Poisoning
Hyperlipidemia, Confusion ORPHA:31825
Aromatase Deficiency
Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Crypto... ORPHA:91
Acromelic Frontonasal Dysplasia
Cryptorchidism, Patellar hypoplasia, Talipes equinovarus, Preaxial foot polydactyly, Aplasia/Hypo... ORPHA:1827
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Down-sloping shoulders, Micrognathia, Coxa valga, Hyperlipidemia, Hypoplasia of teeth... OMIM:248370
Perrault Syndrome 3
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:614129
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Fused labia majora, Decreased circulating cortisol level, Hypogonadotropic hypogona... ORPHA:90794
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Depre... ORPHA:189427
Antley-Bixler Syndrome
Arachnodactyly, Talipes, Camptodactyly of finger, Femoral bowing, Narrow pelvis bone, Hypoplasia ... ORPHA:83
Mandibuloacral Dysplasia With Type B Lipodystrophy
Micrognathia, Hyperlipidemia, Hypoplasia of teeth, Short clavicles, Osteolytic defects of the dis... OMIM:608612
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... ORPHA:325124
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Conjugated hyperbilirubinemia, Early ossification of capital femoral epip... OMIM:208500
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Prolidase Deficiency
Arachnodactyly, Micrognathia, Carious teeth, Genu valgum, Palmoplantar keratoderma, Hypoplasia of... ORPHA:742
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Septate vagina, Uterus didelphys, Hypocalcemia, Aplasia of the uterus, Vaginal atresia, Hypocalce... ORPHA:2237
Proteasome-Associated Autoinflammatory Syndrome 1
Hallux valgus, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypoplastic scapula... OMIM:256040
Hajdu-Cheney Syndrome
Coarse metaphyseal trabecularization, Brachydactyly, Hypospadias, Bowing of the long bones, Micro... ORPHA:955
Primary Fanconi Renotubular Syndrome
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... ORPHA:3337
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microretrognathia, Hypertriglyceridemia OMIM:619418
Alport Syndrome 3A, Autosomal Dominant
Azotemia, Hypophosphatemia OMIM:104200
Gaisböck Syndrome
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... ORPHA:90041
Wolf-Hirschhorn Syndrome
Micrognathia, Abnormal form of the vertebral bodies, Vertebral fusion, Hypospadias, Pseudoepiphys... OMIM:194190
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Microretrognathia, Mandibular prognathia, Sacral dimple, Tapered finger, Hydrocele testis, Hypopl... OMIM:613603
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperlipidemia, Depression, Increa... ORPHA:77293
Charge Syndrome
Hypoplasia of the ulna, Hypogonadotropic hypogonadism, External genital hypoplasia, Down-sloping ... OMIM:214800
Ulbright-Hodes Syndrome
Abnormal penis morphology, Short humerus, Short metacarpal, Abnormal external genitalia, Enlarged... ORPHA:3404
Orofaciodigital Syndrome Type 4
Finger syndactyly, Monorchism, Camptodactyly of finger, Micromelia, Micrognathia, Aplasia/Hypopla... ORPHA:2753
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Familial Multiple Lipomatosis
Premature eruption of permanent teeth, Hyperlipidemia, Bowing of the long bones ORPHA:199276
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... ORPHA:79102
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary OMIM:612310
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia ORPHA:158048
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
X-Linked Mandibulofacial Dysostosis
Cryptorchidism, Hypoplasia of the zygomatic bone, Micrognathia ORPHA:1131
Congenital Analbuminemia
Hyperlipidemia, Pedal edema, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hyp... ORPHA:86816
Glycerol Kinase Deficiency
Cryptorchidism, Hypertriglyceridemia, Hyperglycerolemia OMIM:307030
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Hypoplasia of the zygomatic bone ORPHA:2835
Pearson Syndrome
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Steatorrhea, Hyperalaninemia ORPHA:699
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619665
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619203
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Postaxial polydactyly, Hip dysplasia, Aplasia of the vagina, Aplasia of the uterus,... ORPHA:457284
Pontocerebellar Hypoplasia Type 7
Micrognathia, Abnormal scrotal rugation, Cryptorchidism, Fatigable weakness of skeletal muscles, ... ORPHA:284339
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Lethal Omphalocele-Cleft Palate Syndrome
Retrognathia, Bifid uterus ORPHA:2736
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Vaginal atresia, Attention deficit hyperactivity disorder OMIM:617914
Myoectodermal Gonadal Dysgenesis Syndrome
Bifid distal phalanx of the thumb, Hypoplastic labia majora, Hypoplasia of the uterus, Gonadal dy... OMIM:618419
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures ORPHA:405
Coffin-Siris Syndrome 1
Prominent interphalangeal joints, Clinodactyly of the 5th finger, Prominent fingertip pads, Spina... OMIM:135900
Holoprosencephaly
Hyponatremia, Hypoplasia of penis, Talipes, Short neck, Cryptorchidism, Abnormal form of the vert... ORPHA:2162
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... ORPHA:90796
Marshall Syndrome
Micrognathia, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Genu valgum, Hypoplasia of ... ORPHA:560
Osteopathia Striata With Cranial Sclerosis
Natal tooth, Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Thoracolumbar kyphosis, Os... OMIM:300373
Kinsship Syndrome
Mandibular prognathia, Pes planus, Sacral dimple, Micrognathia, Coxa valga, Short neck, Hip dislo... OMIM:619297
Townes-Brocks Syndrome 1
Bifid scrotum, Short metatarsal, Triphalangeal thumb, 2-4 finger syndactyly, Hypospadias, Bifid u... OMIM:107480
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Hyperlipidemia, Hypoplasia of the uterus, Abnorma... ORPHA:3464
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Clinodactyly, Short distal phalanx of finger, Delayed eruption of teeth OMIM:615866
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Palmoplantar cutis gyrata, Cryptorchidism, Palmoplantar keratoderma, Hypoplasia of... ORPHA:1555
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Aplasia of the vagina, Uterus didelphys, Septate vagina OMIM:146255
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration OMIM:619573
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Cardiofaciocutaneous Syndrome
Abnormal morphology of ulna, Short neck, Cryptorchidism, Genu valgum, Palmoplantar keratoderma, H... ORPHA:1340
Cranioectodermal Dysplasia 1
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Broad distal phalanges of all fingers, Short... OMIM:218330
Charge Syndrome
Bifid scrotum, Delayed eruption of teeth, Hypogonadotropic hypogonadism, Talipes, Cryptorchidism,... ORPHA:138
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Cognitive impairment, Increased bl... OMIM:235400
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Neu-Laxova Syndrome 1
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Micrognathia, Bifid uterus, Cr... OMIM:256520
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Abnormal dental enamel morphology, Micrognathia, Hypoplasia o... ORPHA:861
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Orofaciodigital Syndrome Type 1
Finger syndactyly, Abnormal dental enamel morphology, Tarsal synostosis, Micrognathia, Preaxial h... ORPHA:2750
Mandibuloacral Dysplasia With Type A Lipodystrophy
Aplasia/Hypoplasia of the clavicles, Hyperlipidemia, Osteolytic defects of the distal phalanges o... ORPHA:90153
Pancreatic Agenesis-Holoprosencephaly Syndrome
Reduced C-peptide level, Aplasia/Hypoplasia of the phalanges of the thumb, Hypoplasia of the zygo... ORPHA:556955
Peters-Plus Syndrome
Hypoplasia of the vagina, Proximal placement of thumb, Micrognathia, Hypoplasia of the maxilla, S... OMIM:261540
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration ORPHA:98908
Woodhouse-Sakati Syndrome
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... OMIM:241080
Aapoaiv Amyloidosis