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Gene: Lrrk1 MGI:2142227

Gene Summary

Name:

leucine-rich repeat kinase 1

Synonyms:

D130026O16Rik, C230002E15Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
decreased lean body mass	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.03×10^-05
abnormal humerus morphology	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	2.69×10^-14
abnormal rib morphology	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.54×10^-13
increased circulating iron level	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.20×10^-06
increased circulating aspartate transaminase level	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	4.80×10^-13
abnormal gait	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	3.09×10^-08
increased circulating cholesterol level	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.71×10^-06
abnormal tibia morphology	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	2.56×10^-14
small thymus	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
abnormal maxilla morphology	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.27×10^-11
increased total body fat amount	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	3.82×10^-05
abnormal locomotor behavior	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	5.04×10^-07
abnormal joint morphology	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.10×10^-05
abnormal zygomatic bone morphology	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.46×10^-12
abnormal radius morphology	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	2.48×10^-08
absent teeth	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	6.27×10^-10
increased circulating phosphate level	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	5.92×10^-05
increased bone mineral density	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
abnormal ulna morphology	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	2.47×10^-07
increased neutrophil cell number	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	6.79×10^-23
abnormal pelvic girdle bone morphology	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	3.99×10^-06
decreased circulating alkaline phosphatase level	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	3.44×10^-06
thrombocytopenia	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	9.69×10^-17
increased circulating HDL cholesterol level	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.17×10^-06
increased red blood cell distribution width	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	6.19×10^-15
abnormal tooth morphology	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	4.03×10^-15
decreased lymphocyte cell number	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	6.80×10^-15
decreased eosinophil cell number	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	4.74×10^-07
abnormal eyelid morphology	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	9.16×10^-31
abnormal snout morphology	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	9.19×10^-07
decreased leukocyte cell number	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.56×10^-05
short tibia	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	3.25×10^-24
abnormal vertebrae morphology	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	3.29×10^-05
abnormal fibula morphology	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	2.56×10^-14
increased bone mineral content	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
increased circulating creatine kinase level	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	7.62×10^-12
abnormal femur morphology	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	2.53×10^-14
abnormal clavicle morphology	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	2.56×10^-14
abnormal mandible morphology	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	2.75×10^-14

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Viewing: all phenotypes

lacZ Expression

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

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

No Embryo expression data was found for this gene.

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

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
vascular system	0.0%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Echo

M-Mode Images

28 Images

View images

Adult LacZ

LacZ Images Wholemount

23 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Lrrk1 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.

Human diseases associated with Lrrk1 (1 diseases)
Human diseases predicted to be associated with Lrrk1 (1797 diseases)

The table below shows human diseases associated to Lrrk1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Osteosclerotic Metaphyseal Dysplasia		Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclerosis	OMIM:615198

The table below shows human diseases predicted to be associated to Lrrk1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Coxa Vara	Coxa vara	OMIM:122750
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Blount Disease, Infantile	Genu varum, Abnormality of the proximal tibial epiphysis	OMIM:188700
Osteopetrosis, Autosomal Recessive 6	Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero...	OMIM:611497
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap...	OMIM:619598
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling	OMIM:600121
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Eiken Syndrome	Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b...	ORPHA:79106
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Mueller-Weiss Syndrome	Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone...	ORPHA:566943
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Osteosclerotic Metaphyseal Dysplasia	Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclerosis	OMIM:615198
Ribbing Disease	Diaphyseal sclerosis	OMIM:601477
Sclerosteosis	Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndacty...	ORPHA:3152
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste...	OMIM:607634
Tibial Torsion, Bilateral Medial	Bowing of the legs, Tibial torsion	OMIM:188800
12q14 microdeletion syndrome	Osteopoikilosis, Proportionate short stature	DECIPHER:76
Buschke-Ollendorff Syndrome	Osteopoikilosis, Flexion contracture, Lower limb asymmetry, Joint stiffness	OMIM:166700
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone...	ORPHA:1879
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t...	ORPHA:3416
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn...	ORPHA:1802
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor...	ORPHA:2779
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Short stature, Splenomegaly, Abnormal limb bone morphology, Limb ...	ORPHA:2204
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density, Pedal edema	ORPHA:75325
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology	OMIM:259270
Tibial Hemimelia	Absent tibia	OMIM:275220
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification	Short stature, Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of fi...	OMIM:182255
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye...	OMIM:600785
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo...	ORPHA:2790
Beukes Hip Dysplasia	Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, Osteoarthrit...	OMIM:142669
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Isolated Osteopoikilosis	Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ...	ORPHA:166119
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat...	OMIM:147891
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis	ORPHA:1522
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density	OMIM:602475
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Postnatal growth retardation, Hyperkalemia, E...	OMIM:620366
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul...	OMIM:607078
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom...	OMIM:259710
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Femur fracture, Pancytopenia, Craniosynostosis, Th...	OMIM:259700
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Pes planus, Severe short stature, Joint stiffness, Avascu...	OMIM:132400
Vitamin D-Dependent Rickets, Type 2A	Bowing of the legs, Delayed epiphyseal ossification, Deformed rib cage, Femoral bowing, Tibial bo...	OMIM:277440
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Short metacarpal, Short neck, Short toe, Short metatarsal, Osteoporosi...	OMIM:103580
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Growth delay,...	OMIM:611490
Chromosome 17Q23.1-Q23.2 Duplication Syndrome	Coxa valga, Genu valgum, Hip dysplasia, Talipes equinovarus, Acetabular dysplasia	OMIM:613618
Epiphyseal Dysplasia, Multiple, 3	Epiphyseal dysplasia, Short metacarpal, Elevated circulating creatine kinase concentration, Delay...	OMIM:600969
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Metaphyseal chondrodyspl...	ORPHA:2501
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Epicanthus, Abnormality of the philtrum, Abnormality of the dentition, Synophr...	ORPHA:3268
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Coxopodopatellar Syndrome	Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog...	ORPHA:1509
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co...	ORPHA:53697
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal femoral metaphyseal irregularity, C...	OMIM:609324
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Short metacarpal, Short neck, Short metatarsal, Osteoporosis, Obesity,...	OMIM:612462
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de...	ORPHA:970
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Short stature, Bowing of the legs, Reduced bone mineral density, Delayed o...	OMIM:617974
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L...	ORPHA:1423
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Weismann-Netter Syndrome	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h...	ORPHA:3344
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal...	OMIM:101800
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Elevated circulating creatine kinase c...	OMIM:614727
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Short stature, Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly...	ORPHA:166277
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Re...	ORPHA:210110
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Joint dislocation, Osteomyelitis, Recurrent fractures, Abnormality...	ORPHA:53
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in...	ORPHA:75508
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bowing of the legs, Delayed epiphyseal ossification, Deformed rib cage, Femoral bowing, Tibial bo...	OMIM:264700
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Hypocalcemic Vitamin D-Resistant Rickets	Joint dislocation, Hyperparathyroidism, Abnormal form of the vertebral bodies, Hypocalcemia, Genu...	ORPHA:93160
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Short stature, Micrognathia, Osteopetrosis, Clinodactyly of the 5...	OMIM:617306
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac...	ORPHA:90650
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Abnorm...	OMIM:619795
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip...	OMIM:226900
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Osteopetrosis, Anemia	OMIM:615085
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Cleft...	ORPHA:3104
Melorheostosis	Increased bone mineral density, Joint stiffness, Lower limb asymmetry, Hyperostosis, Arthritis, E...	ORPHA:2485
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Short stature, Cortical sclerosis, Craniofacial osteosclerosis, Diaphy...	OMIM:122860
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th...	OMIM:600081
Paget Disease Of Bone 5, Juvenile-Onset	Barrel-shaped chest, Short humerus, Bowing of the long bones, Osteopenia, Increased bone mineral ...	OMIM:239000
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis	ORPHA:178377
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Pseudopseudohypoparathyroidism	Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Hyperphosphatemia, Short 5th f...	ORPHA:79445
Diastrophic Dysplasia	Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Microgn...	ORPHA:628
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Growth delay, Decreased circul...	OMIM:612301
Brachyolmia Type 1, Hobaek Type	Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short...	OMIM:271530
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Epiphyseal dysplasia, Generalized joint laxity, Genu varum, Patellar hypoplasia, Short femoral ne...	OMIM:609325
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Metaphyseal Dysplasia Without Hypotrichosis	Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ...	OMIM:250460
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Short stature, Splenomegaly, Growth delay, Osteopetrosis, Intrauterine growth retardation	OMIM:618541
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Micrognathia, Short neck, Downturned corners of mouth, Thoracic kyphosis, Narrow chest, High pala...	ORPHA:163649
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Recurrent fractures...	OMIM:300554
Pyle Disease	Metaphyseal dysplasia, Metaphyseal widening, Hypoplastic frontal sinuses, Reduced bone mineral de...	OMIM:265900
Flynn-Aird Syndrome	Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s...	OMIM:136300
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Calcinosis, Increased bone mineral density, Cortical subperiosteal res...	ORPHA:94089
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Osteolysis, Fe...	OMIM:602080
Osteopathia Striata-Cranial Sclerosis Syndrome	Increased bone mineral density, Severe short stature, Micrognathia, Facial hyperostosis, High ili...	ORPHA:2780
Sanjad-Sakati Syndrome	Hypoparathyroidism, Abnormal dental enamel morphology, Patchy osteosclerosis, Micrognathia, Abnor...	ORPHA:2323
Hypocalcemic Vitamin D-Dependent Rickets	Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Deformed rib cage, Femoral ...	ORPHA:289157
Distal Arthrogryposis Type 1	Rocker bottom foot, Camptodactyly of finger, Talipes, Joint stiffness, Ulnar deviation of finger,...	ORPHA:1146
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Finger syndactyly, Amegakaryocytic thrombocytopenia, Radioulnar synostosis, Hip dysplasia, Clinod...	ORPHA:71289
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin upper lip vermilion, Decreased response to growth hormone stimulation test, Patchy osteoscle...	OMIM:241410
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f...	ORPHA:93396
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy...	OMIM:231095
Spondylometaphyseal Dysplasia, Corner Fracture Type	Hypoplasia of the odontoid process, Coxa vara, Short femoral neck, Corner fracture of metaphysis,...	OMIM:184255
Hypophosphatemic Bone Disease	Short stature, Osteomalacia, Bowing of the legs, Rickets, Hypophosphatemia	OMIM:146350
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Short stature, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosp...	OMIM:259730
Heart-Hand Syndrome Type 2	Abnormal clavicle morphology, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micro...	ORPHA:1350
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Pa...	ORPHA:249
Metatropic Dysplasia	Severe short stature, Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Join...	ORPHA:2635
Pseudohypoparathyroidism Type 1C	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79444
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79443
Developmental Dysplasia Of The Hip 2	Hip osteoarthritis, Arthritis, Hip dysplasia, Coxa valga	OMIM:615612
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Delayed epiphyseal ...	ORPHA:166016
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteopetrosis, Anemia	OMIM:612840
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ...	OMIM:144750
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Tall stature	OMIM:618406
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar...	ORPHA:1452
Osteogenesis Imperfecta, Type Xiii	Femoral bowing, Pectus carinatum, Enlarged thorax, Reduced bone mineral density, Decreased body w...	OMIM:614856
Spondyloepiphyseal Dysplasia Congenita	Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Abnormal foot m...	ORPHA:94068
Pycnodysostosis	Abnormal clavicle morphology, Obtuse angle of mandible, Persistent open anterior fontanelle, Decr...	ORPHA:763
Metaphyseal Anadysplasia	Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Abnormality of the lower ...	ORPHA:1040
Autosomal Dominant Kenny-Caffey Syndrome	Decreased testicular size, Stenosis of the medullary cavity of the long bones, Delayed cranial su...	ORPHA:93325
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc...	OMIM:307800
Familial Expansile Osteolysis	Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex	OMIM:174810
Cranio-Osteoarthropathy	Abnormality of the knee, Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Clubbing of ...	ORPHA:1525
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Increased skull ossification, Metaphyseal widening, Craniofacial osteosclerosis, Diaphyseal scler...	OMIM:618476
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
X-Linked Hypophosphatemia	Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,...	ORPHA:89936
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Extramedullary hematopoiesis, Short stature, Pancytopenia, Microg...	OMIM:259720
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bowing of the legs, Delayed epiphyseal ossification, Deformed rib cage, Femoral bowing, Tibial bo...	OMIM:241530
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv...	OMIM:215045
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Thin upper lip vermilion, Short metacarpal, Dental crowding, Avascular necrosis of th...	OMIM:190351
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint...	ORPHA:93284
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex, Coxa valga, Short tubular bones of ...	ORPHA:85184
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia...	ORPHA:1570
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Schwartz-Jampel Syndrome	Elevated circulating creatine kinase concentration, Micromelia, Micrognathia, Short neck, Coxa va...	ORPHA:800
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Boomerang Dysplasia	Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae,...	ORPHA:1263
Acrodysostosis	Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Abnormal form of ...	ORPHA:950
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Hyperplasia of the maxilla, Hypopar...	ORPHA:231226
Grant Syndrome	Bowing of the long bones, Short stature, Micrognathia, Joint hyperflexibility, Abnormal pelvic gi...	ORPHA:2097
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Short stature, Recurrent fractures, Hy...	ORPHA:1782
Ulna Metaphyseal Dysplasia Syndrome	Abnormal dental morphology, Abnormal morphology of ulna, Abnormality of the dentition, Abnormal f...	ORPHA:1837
Caffey Disease	Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase...	ORPHA:1310
Wt Limb-Blood Syndrome	Pancytopenia, Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Hypopla...	OMIM:194350
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Micrognathia, Small hand, Obesity, Short foot, High palate, Short philtrum, Scoliosis, Hyperchole...	ORPHA:254531
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Rothmund-Thomson Syndrome	Osteopenia, Aplastic anemia, Selective tooth agenesis, Reduced bone mineral density, Neutropenia,...	ORPHA:2909
Short Stature, Dauber-Argente Type	Long toe, Osteopenia, Arachnodactyly, Short stature, Decreased fibular diameter, Postnatal growth...	OMIM:619489
Caffey Disease	Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon...	OMIM:114000
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber...	OMIM:156530
Femoral-Facial Syndrome	Micrognathia, Coxa vara, Orofacial cleft, Vertebral segmentation defect, Aplasia/Hypoplasia of th...	ORPHA:1988
Slc35A2-Cdg	Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Coxa valga, Metata...	ORPHA:356961
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Short stature, Reduced bone mineral density, Delayed ossification of carpal bones, Short femoral ...	OMIM:618392
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Increased circulating ferritin concentration, Hypochromic microcytic anemia, Growth delay, Osteop...	ORPHA:3240
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract...	ORPHA:93307
Epiphyseal Chondrodysplasia, Miura Type	Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino...	OMIM:615923
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste...	ORPHA:289176
Stuve-Wiedemann Syndrome 1	Enlarged joints, Single transverse palmar crease, Micrognathia, Short neck, Femoral bowing, Tibia...	OMIM:601559
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Obesity, Pseudohypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Brachydactyly	OMIM:603233
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
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick...	ORPHA:1328
Temple Syndrome	Decreased testicular size, Hypertriglyceridemia, Small for gestational age, Micrognathia, Overwei...	OMIM:616222
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Erlenmeyer flask deformity ...	OMIM:610539
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, Knee dislocation, Irregular vertebral endplates, High palate...	OMIM:618363
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration	OMIM:109130
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra...	OMIM:224300
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus...	OMIM:166260
Metaphyseal Chondrodysplasia, Jansen Type	Waddling gait, Hip contracture, Bowing of the long bones, Osteopenia, Hypoparathyroidism, Hyperca...	OMIM:156400
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy...	ORPHA:93409
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Acrootoocular Syndrome	Abnormal finger flexion crease, Decreased palmar creases, Micrognathia, Decreased response to gro...	ORPHA:2980
Dent Disease 1	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Recurrent fractures...	OMIM:300009
Dysostosis, Stanescu Type	Persistent open anterior fontanelle, Micromelia, Short neck, Hypoplasia of the maxilla, Increased...	ORPHA:1798
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh...	OMIM:112450
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Lethal Congenital Contracture Syndrome Type 1	Short stature, Recurrent fractures, Micrognathia, Limitation of joint mobility, Slender long bone...	ORPHA:1486
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
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca...	ORPHA:1106
Monosomy 5P	Microretrognathia, Finger syndactyly, Short stature, Recurrent fractures, Small hand, Joint hyper...	ORPHA:281
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, Short middle phalanx o...	OMIM:119600
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Small for gestati...	OMIM:127000
Hypophosphatasia, Childhood	Waddling gait, Elevated plasma pyrophosphate, Craniosynostosis, Bowing of the legs, Carious teeth...	OMIM:241510
Schnitzler Syndrome	Increased bone mineral density, Splenomegaly, Leukocytosis, Arthritis, Increased circulating IgM ...	ORPHA:37748
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Hypophosphatemic Rickets, Autosomal Dominant	Short stature, Osteomalacia, Abnormality of the lower limb, Rickets, Hypophosphatemia, Hypophosph...	OMIM:193100
Orofaciodigital Syndrome Type 10	Micrognathia, Short neck, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation o...	ORPHA:2756
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Hypoplasia of the maxilla, Short middle phalanx of the 2nd finger, Multipl...	OMIM:156510
Epiphyseal Dysplasia, Baumann Type	Carpal bone aplasia, Pes planus, Epiphyseal dysplasia, Joint laxity, Hypoplasia of the femoral he...	OMIM:610797
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Bowing of the legs, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Metaphyseal cu...	OMIM:619073
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Laron Syndrome	Delayed eruption of teeth, Micrognathia, Short toe, Osteoarthritis, Abnormality of the elbow, Tru...	ORPHA:633
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Failure to thrive, Small for gestational age, Hypoplasia of the maxilla, Congenital g...	OMIM:608154
Spondylometaphyseal Dysplasia, Pagnamenta Type	Pes planus, Rhizomelia, Femoral bowing, Short 5th metacarpal, Short 4th metacarpal, Broad thumb, ...	OMIM:619638
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Epicanthus, Ataxia, Tapered finger, Micrognathia, Kyphosis, Wide nasal bridge, Joint ...	ORPHA:2479
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Spondyloepimetaphyseal Dysplasia, Irapa Type	Micromelia, Osteoarthritis, Short metatarsal, Abnormal carpal morphology, Coxa vara, Pectus carin...	ORPHA:93351
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Tapered finger, Flat capital femoral epiphysis, Moderately short stature, Flexion con...	ORPHA:157965
Cohen Syndrome	Thoracic scoliosis, Single transverse palmar crease, Decreased response to growth hormone stimula...	OMIM:216550
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost...	OMIM:609052
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Abnormal bo...	ORPHA:1952
Smith-Magenis Syndrome	Mandibular prognathia, Pes planus, Everted upper lip vermilion, Hypertriglyceridemia, Hypercholes...	OMIM:182290
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Short stature, Micro...	OMIM:613848
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Dense metaphyseal bands, Osteopenia, Short stature, Slender long bones with narrow diaphyses, Int...	ORPHA:50811
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short femur, Fractured radius, Decreased fibular diameter, Multiple prenatal fracture...	OMIM:616897
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip contracture, Abnormality of the knee, Broad radial metaphysis, Protrusio acetabuli, Broad fem...	ORPHA:99642
Fanconi Renotubular Syndrome 3	Short stature, Bowing of the legs, Elevated circulating creatinine concentration, Rickets, Growth...	OMIM:615605
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Narrow mouth, W...	OMIM:201170
Desmosterolosis	Increased bone mineral density, Severe short stature, Talipes, Micromelia, Micrognathia, Metatars...	ORPHA:35107
Zimmermann-Laband Syndrome	Micrognathia, Short neck, Overtubulated long bones, High palate, Bifid uvula, Supernumerary tooth...	ORPHA:3473
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Bowing of the legs, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia...	ORPHA:89937
Aarskog-Scott Syndrome	Genu recurvatum, Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Orofacia...	ORPHA:915
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Achilles tendon calcification, Hyperphosphatemia, Parathyroid hyperpla...	OMIM:617994
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Failure to thrive, Rocker bottom foot, Anisocytosis, Micrognathia, Flexion contracture, Wide mout...	OMIM:604273
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short stature, Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Hip dysplasi...	ORPHA:2370
Acrorenal Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A...	ORPHA:971
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Sparse eyelashes, Camptodactyly of finger, Micrognathia, Avascular necrosis of ...	ORPHA:77258
Ck Syndrome	Micrognathia, Abnormal digit morphology, Abnormal cortical bone morphology, Slender build, Joint ...	OMIM:300831
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Dental crowding, Micrognathia, Flexion contracture, High palate, Premature loss of te...	OMIM:248370
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Increased bone mineral density, Severe short stature, Aplastic clavicle, Abnor...	ORPHA:2658
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Decreased c...	OMIM:620076
Pseudoachondroplasia	Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphys...	OMIM:177170
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Synophrys, Abnormal form of the ...	ORPHA:819
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Dental crowding, Lipoatrophy,...	ORPHA:2457
Hypophosphatasia	Bowing of the long bones, Failure to thrive in infancy, Hypercalcemia, Recurrent fractures, Crani...	ORPHA:436
Mucopolysaccharidosis Type 4	Joint dislocation, Short neck, Pectus carinatum, Reduced bone mineral density, Hernia, Abnormal d...	ORPHA:582
Trichorhinophalangeal Syndrome Type 2	Joint dislocation, Thin upper lip vermilion, Thick eyebrow, Bilateral single transverse palmar cr...	ORPHA:502
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ...	ORPHA:1801
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Severe short stature, Protrusio acetabuli, Abnormal femoral head morphology, Short to...	ORPHA:2619
Opsismodysplasia	Short neck, Hypoplastic vertebral bodies, Narrow chest, Shallow orbits, Short palm, Short phalanx...	OMIM:258480
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia,...	ORPHA:96334
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Abnor...	ORPHA:85435
Polydactyly, Postaxial, Type A7	Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous...	OMIM:617642
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Short stature, Osteomalacia, Bowing of the legs, Increased circulating beta-C-terminal telopeptid...	ORPHA:157215
Neuhauser Syndrome	Osteopenia, Pes planus, Epicanthus, Arachnodactyly, Genu recurvatum, Ataxia, Micrognathia, Wide n...	OMIM:249310
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placeme...	ORPHA:93267
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Micrognathia, Cryptorchidism, Small hand, Obesity, Cleft palate, Short...	ORPHA:96184
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, Short tibia, ...	OMIM:616300
Kenny-Caffey Syndrome, Type 1	Long clavicles, Delayed closure of the anterior fontanelle, Carious teeth, Thin clavicles, Hypoma...	OMIM:244460
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn...	ORPHA:93333
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Sparse eyelashes, Micrognathia, Abnormal eyelid morphology, High, narrow palat...	ORPHA:1787
Cleidocranial Dysplasia 2	Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary te...	OMIM:620099
Pycnodysostosis	Increased bone mineral density, Persistent open anterior fontanelle, Delayed eruption of primary ...	OMIM:265800
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal...	ORPHA:90652
Camurati-Engelmann Disease	Mandibular prognathia, Waddling gait, Increased bone mineral density, Reduced subcutaneous adipos...	OMIM:131300
Coxoauricular Syndrome	Short stature, Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral densi...	ORPHA:1508
Progressive Pseudorheumatoid Arthropathy Of Childhood	Enlarged epiphyses, Irregularity of vertebral bodies, Abnormal circulating C-reactive protein con...	ORPHA:1159
Dysspondyloenchondromatosis	Joint dislocation, Enlarged joints, Kyphoscoliosis, Lower limb asymmetry, Osteoarthritis, General...	ORPHA:85198
Weismann-Netter Syndrome	Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Calvarial hy...	OMIM:112350
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pe...	OMIM:223800
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Thin upper lip vermilion, Short femur, Rhizomelia, Sandal gap, Small for gestation...	OMIM:607143
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Micrognat...	OMIM:108721
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Short neck, Glosso...	OMIM:611209
Rothmund-Thomson Syndrome Type 2	Osteopenia, Joint dislocation, Aplastic anemia, Long nose, Patellar hypoplasia, High palate, Neut...	ORPHA:221016
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Missing ribs, Absent thumb, Absent radius, Humeroradial synostosis, Cra...	OMIM:251230
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Delayed cranial suture closure, Carious teeth...	ORPHA:93324
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh...	OMIM:300106
Orofaciodigital Syndrome Iv	Epicanthus, Toe syndactyly, Postaxial polydactyly, Micrognathia, Pectus excavatum, Accessory oral...	OMIM:258860
Metaphyseal Chondrodysplasia, Schmid Type	Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met...	OMIM:156500
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal rib morphology, Downturned corners of mouth, Abnormal epiphysis morphology, Neutropenia,...	ORPHA:2643
Omodysplasia 1	Micrognathia, Short neck, Limited elbow flexion, Short tibia, Rhizomelia, Increased fibular diame...	OMIM:258315
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Finger syndactyly, Fused ce...	ORPHA:3320
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Pectus carinatum, Downturn...	ORPHA:1507
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Sacral dimple, Bilateral single transverse palmar creases, Abnormal morphology...	ORPHA:2633
Spondyloepimetaphyseal Dysplasia, Missouri Type	Waddling gait, Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthr...	OMIM:602111
Autosomal Recessive Primary Microcephaly	Growth delay, Abnormal cortical bone morphology, Short stature	ORPHA:2512
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilo...	OMIM:615631
Gorham-Stout Disease	Osteopenia, Abnormal pelvis bone morphology, Osteomyelitis, Osteolysis involving bones of the upp...	ORPHA:73
Tetrasomy X	Epicanthus, Abnormality of the dentition, Upslanted palpebral fissure, Joint hyperflexibility, Ra...	ORPHA:9
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,...	OMIM:253000
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,...	OMIM:609945
Specific Granule Deficiency 2	Osteopenia, Absent neutrophil specific granules, Sandal gap, Conical tooth, Thrombocytopenia, Ame...	OMIM:617475
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Ulnar deviation of the hand, Ankle swelling, Congenital diaphragmatic hernia, Microgn...	OMIM:166300
Blomstrand Lethal Chondrodysplasia	Micrognathia, Narrow chest, Distal shortening of limbs, Short metacarpal, Increased bone mineral ...	ORPHA:50945
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone miner...	ORPHA:667
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Raine Syndrome	Mandibular prognathia, Micromelia, Micrognathia, Short neck, High palate, Microdontia, Long hallu...	OMIM:259775
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas...	ORPHA:2639
Mucopolysaccharidosis-Plus Syndrome	Short neck, Metaphyseal widening, Flexion contracture, Synophrys, Pectus carinatum, Leukopenia, H...	OMIM:617303
9Q31.1Q31.3 Microdeletion Syndrome	Mandibular prognathia, Cervical kyphosis, Highly arched eyebrow, Tapered finger, Overweight, Shor...	ORPHA:401923
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w...	OMIM:608940
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Abnormal number of incisors, Inguinal hernia, Epicanthus, Coxa valga, Cryptorchidism, Osteoporosi...	ORPHA:2958
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Abnormal eyelid morphology, Short p...	ORPHA:193
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Short stature, Recurrent fractures, Increased susceptibility to fractures, Femoral bo...	OMIM:615066
Brachyolmia Type 1, Toledo Type	Broad tibial metaphyses, Childhood-onset short-trunk short stature, Disproportionate short-trunk ...	OMIM:271630
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal morphology of ulna, Short neck, Obesity, High palate, Abnormal metacarpal morphology, Ab...	ORPHA:2233
Atelosteogenesis Type Iii	Short tubular bones of the hand, Micrognathia, Knee dislocation, High palate, Short tibia, Verteb...	ORPHA:56305
Tricho-Dento-Osseous Syndrome	Finger clinodactyly, Increased bone mineral density, Periapical tooth abscess	ORPHA:3352
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Hypoplastic cervical ve...	ORPHA:56304
Melnick-Needles Syndrome	Craniofacial hyperostosis, Bowing of the long bones, Short stature, Coxa valga, Micrognathia, Hip...	ORPHA:2484
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pect...	ORPHA:175
Craniosynostosis With Fibular Aplasia	Craniosynostosis, Fibular aplasia	OMIM:218550
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o...	OMIM:268305
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Mosaic Trisomy 14	Ptosis, Camptodactyly of finger, Lower limb asymmetry, Micrognathia, Cryptorchidism, Short neck, ...	ORPHA:1703
Autosomal Dominant Robinow Syndrome	Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormality of the gingiva, Hemiverteb...	ORPHA:3107
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Irregular verte...	ORPHA:439822
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Failure to thrive, Short hallux, Spinal rigidity, Limitation of joint mobility, Ec...	ORPHA:337
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,...	OMIM:259600
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Conjunctival whitish salt-like deposits, Hyperostosis, Pulp calcification, Taurodonti...	OMIM:211900
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia...	ORPHA:3035
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal rib morphology, Wide nasal bridge, Diaphyseal thickening	ORPHA:1513
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal...	ORPHA:168549
Shwachman-Diamond Syndrome	Normocytic anemia, Osteopenia, Sinusitis, Aplastic anemia, Transient neutropenia, Decreased respo...	ORPHA:811
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Short...	OMIM:201000
2Q31.1 Microdeletion Syndrome	Micrognathia, Short neck, Abnormal tibia morphology, Deep philtrum, Synophrys, Downturned corners...	ORPHA:251014
Senior-Loken Syndrome	Cone-shaped epiphysis, Short stature, Abnormality of bone mineral density	ORPHA:3156
Rothmund-Thomson Syndrome Type 1	Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Microdontia, Short phalanx of fing...	ORPHA:221008
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Abnormal dental morphology, Malar prominence, Pectus excavatum, Mic...	ORPHA:2522
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splenomegaly, Leuko...	ORPHA:77297
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Persistence of primary teeth, Supernumerary tooth, Increased susceptibility to fractures, High pa...	OMIM:619752
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Lumbar h...	OMIM:256050
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Linear Verrucous Nevus Syndrome	Short metacarpal, Toe syndactyly, Genu recurvatum, Talipes, Reduced bone mineral density, Scolios...	ORPHA:2611
Acromesomelic Dysplasia 4	Mandibular prognathia, Thoracic scoliosis, Synophrys, Short metatarsal, Short phalanx of finger, ...	OMIM:619636
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Bo...	OMIM:112250
Galloway-Mowat Syndrome 7	Hallux valgus, Arachnodactyly, Single transverse palmar crease, Kyphoscoliosis, Micrognathia, Pec...	OMIM:618348
Cenani-Lenz Syndrome	Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Foot oligodactyly, Short ...	ORPHA:3258
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi...	ORPHA:1307
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly, Hemolytic anemia, Reticulocytosis, Small for gestational age, Anisocytosis, Anemia of...	OMIM:224120
Autoimmune Hypoparathyroidism	Increased bone mineral density, Autoimmune hypoparathyroidism, Hyperphosphatemia, Conjunctivitis,...	ORPHA:36913
Solitary Bone Cyst	Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Pathologic fract...	ORPHA:83468
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Fibro...	ORPHA:352540
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr...	OMIM:143095
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular...	OMIM:271700
Combined Oxidative Phosphorylation Deficiency 55	Epicanthus, Elevated circulating creatine kinase concentration, Single transverse palmar crease, ...	OMIM:619743
Hyperparathyroidism, Transient Neonatal	Osteopenia, Short femur, Metaphyseal spurs, Recurrent fractures, Femoral bowing, Short long bone,...	OMIM:618188
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s...	ORPHA:1275
Grant Syndrome	Tibial bowing, Down-sloping shoulders, Micrognathia	OMIM:138930
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Lateral clavicle hook, Absent rad...	OMIM:171480
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa...	ORPHA:1860
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Thrombocytopenia, Micrognathia	ORPHA:1237
Pelger-Huet Anomaly	Abnormality of neutrophils, Abnormality of the dentition, Thrombocytopenia, Hyposegmentation of n...	OMIM:169400
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl...	OMIM:210720
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Micromelia, Bowing of the legs, Metaphyseal widening, Femoral bowing, Narrow greater sciatic notc...	OMIM:608728
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, Choreoathetosi...	OMIM:234100
Achondroplasia	Brachydactyly, Radial bowing, Rhizomelia, Short femur, Limited hip extension, Bowing of the legs,...	OMIM:100800
Craniometaphyseal Dysplasia, Autosomal Dominant	Metaphyseal widening, Cranial hyperostosis, Flared metaphysis, Abnormal pelvic girdle bone morpho...	OMIM:123000
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Long nose, Abnormal form of the vertebral bodies, Clinodactyly of the 5th ...	ORPHA:2769
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Abnormal foot morphology, Rickets, Increased susceptibility to...	OMIM:146300
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis...	OMIM:612350
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Ve...	ORPHA:2631
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Severe short stature, Tapered finger, K...	OMIM:313420
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Hyperparathyroidism, Dental crowding, Hypoammonemia, Micrognathia, Deep ph...	ORPHA:534
Greenberg Dysplasia	Micromelia, Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Pa...	OMIM:215140
Seckel Syndrome 1	Dental crowding, Abnormal finger flexion crease, Single transverse palmar crease, Micrognathia, S...	OMIM:210600
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Hypoplasia ...	OMIM:305400
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Enlarged joints, Pectus excavatum, Delayed epiphyseal ossification, Wide nasal bridge, Triangular...	ORPHA:166024
Martsolf Syndrome 1	Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Pectus carinatu...	OMIM:212720
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac...	OMIM:253010
3M Syndrome	Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ...	ORPHA:2616
Greenberg Dysplasia	Abnormal leukocyte morphology, Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathi...	ORPHA:1426
Maxillonasal Dysplasia	Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypoplasia of the ...	ORPHA:1248
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Thoracic hypoplasia, Short long bone, Scoliosis, Camptodactyly, Thrombo...	OMIM:619751
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect...	ORPHA:2911
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Severe short stature, Osteomalacia, Coxa valga, Avascular necrosis of the capital fem...	ORPHA:1901
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Congenital diaphragmatic hernia, Micrognathia, Short neck, Hemivert...	ORPHA:958
Shwachman-Diamond Syndrome 1	Metaphyseal chondrodysplasia, Metaphyseal widening, Proximal femoral metaphyseal irregularity, Co...	OMIM:260400
Orofaciodigital Syndrome Type 2	Micrognathia, Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Ham...	ORPHA:2751
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper...	OMIM:609616
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Osteoglophonic Dysplasia	Mandibular prognathia, Osteopenia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Erupt...	OMIM:166250
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Limitation of joint mobility, Symphalangism affecting the ph...	ORPHA:2741
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Hennekam Syndrome	Delayed eruption of teeth, Finger syndactyly, Lymphopenia, Epicanthus, Abnormal dental morphology...	ORPHA:2136
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of the wrist, Camptodactyly of finger, Abnormality of the wrist, Hypoplasia of th...	ORPHA:1529
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Metaphyseal chondrodysplasia, Abnormal thorax morphology, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Braddock-Carey Syndrome 1	U-Shaped upper lip vermilion, Telecanthus, Hyperlordosis, Pierre-Robin sequence, Small hand, Wide...	OMIM:619980
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal i...	ORPHA:457395
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa...	ORPHA:77259
Multiple Epiphyseal Dysplasia, Beighton Type	Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip joint morphology, Ar...	ORPHA:166011
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Micrognathia, Metatarsus valgus, Apl...	ORPHA:3082
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Hallux valgus, Telecanthus, Cone-shaped epiphyses of the 3rd toe, Hypoplas...	ORPHA:397973
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Micrognathia, Bowing of the legs, Short neck, Pectus carinatum, Knee flexion contract...	OMIM:271665
Congenital Amegakaryocytic Thrombocytopenia	Abnormal hemoglobin, Short neck, Abnormal form of the vertebral bodies, Anemia, Scoliosis, Decrea...	ORPHA:3319
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp...	OMIM:300232
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Osteopenia, Broad long bones, Dental crowding, Wormian bones,...	OMIM:269300
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta...	OMIM:108720
Thoracomelic Dysplasia	Short neck, Elbow dislocation, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Bell-shape...	ORPHA:1803
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat...	ORPHA:239
Congenital Disorder Of Glycosylation, Type Iio	Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra...	OMIM:616828
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Microphthalmia With Limb Anomalies	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp...	OMIM:206920
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Short t...	ORPHA:968
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Decreased circulating plasmalogen concentration, Inguinal hernia, Rhiz...	OMIM:222765
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Omphalocele, Finger syndactyly, Abnormal scapula morphology, Congenital diaphragmatic hernia, Apl...	ORPHA:2141
Fibrochondrogenesis 2	Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Short nose...	OMIM:614524
Nephrotic Syndrome, Type 11	Arachnodactyly, Micrognathia, Cleft lip, Partial duplication of thumb phalanx, Cleft palate, Hypo...	OMIM:616730
Proteus Syndrome	Splenomegaly, Mandibular hyperostosis, Hypertrophy of skin of soles, Calvarial hyperostosis, Faci...	OMIM:176920
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Abnormality of bone mineral density	ORPHA:1114
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Micrognathia, F...	OMIM:617952
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Congenital hip dislocation, Micrognathia, High palate, Short palm, Microdo...	OMIM:268400
Chst3-Related Skeletal Dysplasia	Barrel-shaped chest, Delayed eruption of teeth, Short metacarpal, Waddling gait, Rhizomelia, Enla...	ORPHA:263463
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,...	OMIM:618019
20P12.3 Microdeletion Syndrome	Broad hallux phalanx, Epicanthus, Hypoplasia of the maxilla, Narrow mouth, Wide nasal bridge, Pec...	ORPHA:261295
W Syndrome	Hypoplasia of the ulna, Pes planus, Radial bowing, Broad uvula, Telecanthus, Metatarsus adductus,...	ORPHA:2804
Orofaciodigital Syndrome Ix	Telecanthus, Toe syndactyly, Median cleft lip, Accessory oral frenulum, Abnormality of the dentit...	OMIM:258865
Bone Marrow Failure Syndrome 3	Congenital hip dislocation, Aplastic anemia, Micrognathia, Pancreatic steatosis, Oral ulcer, Redu...	OMIM:617052
Kniest Dysplasia	Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu varu...	OMIM:156550
Spondylometaphyseal Dysplasia, Kozlowski Type	Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha...	OMIM:184252
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Absent gallbladder, Postaxial polydactyly, Micrognathia, Lateral clavicle hook, Hama...	OMIM:617925
Frontonasal Dysplasia 1	Frontal cutaneous lipoma, Pericallosal lipoma, Median cleft lip, Ptosis, Epicanthus, Hypoplasia o...	OMIM:136760
Mccune-Albright Syndrome	Abnormal femur morphology, Aneurysmal bone cyst, Osteomalacia, Abnormal facial skeleton morpholog...	ORPHA:562
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Short femur, Foot oligodactyly, Amelia	OMIM:601357
Spondyloepimetaphyseal Dysplasia, Irapa Type	Waddling gait, Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Lumbar hyperlordosis,...	OMIM:271650
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Achondrogenesis Type 1B	Femoral hernia, Micromelia, Micrognathia, Abnormal enchondral ossification, Short neck, Short tho...	ORPHA:93298
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated circulating creatine kinase concentration, Leukopenia, Cryptorchidism, Postaxial foot po...	OMIM:301056
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Abnormality of the dentition, Pectus excavatum, Carious teeth, Radioulnar synostosis, Gait distur...	ORPHA:3270
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno...	OMIM:616860
Dislocation Of The Hip-Dysmorphism Syndrome	Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Inguinal herni...	ORPHA:2412
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Cleft palate, Hydrocele testis, Radioulnar synostosis, Short middle phalanx of ...	OMIM:616738
Osteogenesis Imperfecta, Type V	Osteopenia, Pes planus, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractur...	OMIM:610967
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Osteoarthritis, Abnormal femur mo...	ORPHA:429
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Pectus carinatum, High palate, ...	ORPHA:192
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis, Short metatarsal, ...	OMIM:251450
48,Xxyy Syndrome	Abnormal shoulder morphology, Clinodactyly of the 5th finger, Ataxia, Abnormal dental enamel morp...	ORPHA:10
Odontochondrodysplasia 1	Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx ...	OMIM:184260
Chime Syndrome	Short philtrum, Short palm, Microdontia, Abnormal dental morphology, Aplastic clavicle, Supernume...	ORPHA:3474
Trisomy 4P	Thick eyebrow, Camptodactyly of finger, Abnormality of the dentition, Carious teeth, Preaxial han...	ORPHA:1738
Aase-Smith Syndrome	Multiple joint contractures, Camptodactyly of finger, Joint stiffness, Trismus, Cleft palate, Apl...	ORPHA:916
Congenital Erythropoietic Porphyria	Osteopenia, Anisocytosis, Abnormal circulating porphyrin concentration, Scarring alopecia of scal...	ORPHA:79277
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Schimke Immuno-Osseous Dysplasia	Short neck, Neutropenia, Microdontia, Lumbar hyperlordosis, Abnormal primary molar morphology, De...	ORPHA:1830
Van Maldergem Syndrome 1	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:601390
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Lateral clavicle hook, Hypoplasia of the...	OMIM:600920
Hypercholanemia, Familial 1	Rickets, Increased serum bile acid concentration	OMIM:607748
Schimke Immunoosseous Dysplasia	Osteopenia, Short neck, Bilateral cryptorchidism, Abnormal T cell morphology, Thoracic kyphosis, ...	OMIM:242900
Malaria	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Gait imbalance, Hyperbil...	ORPHA:673
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Ataxia, Steppage gait, Hypoalbuminemia, Hypercholesterolemia, Distal lower limb muscle weakness, ...	ORPHA:94124
Tyrosinemia Type 1	Splenomegaly, Rickets of the lower limbs	ORPHA:882
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Lymphadenopathy...	OMIM:603552
Van Maldergem Syndrome 2	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:615546
Congenital Generalized Lipodystrophy	Mandibular prognathia, Failure to thrive, Hypertriglyceridemia, Lipodystrophy, Adipose tissue los...	ORPHA:528
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the hand, Abnormality of the dentition, Supernumerary tooth, Oligodontia, Short 5t...	ORPHA:1264
Fibrochondrogenesis 1	Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate...	OMIM:228520
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Short humerus, Short metacarpal, Epicanthus, Rhizomelia, Hyperlordosis, Co...	ORPHA:2831
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hypoplasia of the maxilla, Flexion contracture, Hyperextensibility at wrists, Pectus carinatum, I...	ORPHA:481152
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Hypercholesterolemia, Intrinsic hand muscle atrophy, Abnormal circ...	ORPHA:488650
Desbuquois Dysplasia 2	Dental crowding, Single transverse palmar crease, Short neck, Metaphyseal widening, Synophrys, Pe...	OMIM:615777
Geroderma Osteodysplasticum	Mandibular prognathia, Hyperextensibility of the finger joints, Osteopenia, Beaking of vertebral ...	OMIM:231070
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Beaded ribs, Pectus excavatum, Multiple prenatal fractures, Kyphosis, Dentin...	OMIM:259440
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Meta...	OMIM:182212
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Short neck, Flexion c...	OMIM:265000
Hall-Riggs Syndrome	U-Shaped upper lip vermilion, Metaphyseal dysplasia, Epicanthus, Kyphosis, Thick lower lip vermil...	OMIM:234250
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Back pain, Scapular winging, Lumbar hyperlordosis, Elevated circulating creatine kinase concentra...	OMIM:167320
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Joint hyperflexibility, Platyspondyly, A...	ORPHA:90653
Thrombocytopenia, Paris-Trousseau Type	Micrognathia, Radial deviation of finger, Clinodactyly, Thrombocytopenia, Ptosis	OMIM:188025
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra...	OMIM:619868
Frontometaphyseal Dysplasia 1	Carpal synostosis, Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee...	OMIM:305620
Juberg-Hayward Syndrome	Abnormal eyebrow morphology, Toe syndactyly, Highly arched eyebrow, Short thumb, Hypoplasia of th...	ORPHA:2319
Braddock-Carey Syndrome 2	Pierre-Robin sequence, Cleft palate, Wide mouth, Clinodactyly, Retrognathia, Downslanted palpebra...	OMIM:619981
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia, Rickets	OMIM:619232
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Abnormality of neutrophils, ...	ORPHA:229717
Brachycephaly, Trichomegaly, And Developmental Delay	Epicanthus, Single transverse palmar crease, Highly arched eyebrow, Supernumerary tooth, Submucou...	OMIM:617412
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia,...	ORPHA:1652
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Epicanthus, Rhizomelia, Abnormal dental enamel morphology, Cran...	ORPHA:1515
Takenouchi-Kosaki Syndrome	Proximal placement of thumb, Synophrys, Downturned corners of mouth, Abnormal sternum morphology,...	OMIM:616737
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Short stature, Recurrent fractures, Elevated circulating creatine kinase concentrat...	ORPHA:2785
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Flat glenoid fos...	OMIM:224690
Cartilage-Hair Hypoplasia	Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Neutropenia, Short palm, Joint lax...	OMIM:250250
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Failure to thrive in infancy	OMIM:232700
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Long nose, Hypoplasia of the primary te...	OMIM:257850
Trichothiodystrophy	Osteopenia, Joint dislocation, Multiple joint contractures, High, narrow palate, Gait ataxia, Tho...	ORPHA:33364
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Abnormal ti...	ORPHA:666
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal should...	OMIM:274000
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Short stature, Rickets, Hepatosplenomegaly, Decreased mean cor...	OMIM:611590
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th...	ORPHA:2502
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Diamond-Blackfan Anemia 21	Unilateral ptosis, Micrognathia, Synophrys, Tapered finger, Short toe, Obesity, Narrow mouth, Ane...	OMIM:620072
Proteasome-Associated Autoinflammatory Syndrome 3	Failure to thrive, Sinusitis, Hypertriglyceridemia, Lipodystrophy, Thrombocytopenia, Splenomegaly...	OMIM:617591
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Lumbar hyperlordosis, Mi...	OMIM:602471
Mandibuloacral Dysplasia With Type B Lipodystrophy	Dental crowding, Micrognathia, Flexion contracture, High palate, Premature loss of teeth, Short p...	OMIM:608612
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Thoracolumbar kyphosis, Long nose, Increased intervertebral...	ORPHA:508533
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, Hepatospl...	OMIM:612526
Multiple Pterygium-Malignant Hyperthermia Syndrome	Downturned corners of mouth, Advanced eruption of teeth, Prominence of the zygomatic bone, Finger...	ORPHA:2215
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Epicanthus, Radial bowing, Single transverse palmar crease, Micromelia,...	OMIM:617866
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A...	ORPHA:2378
Chondrodysplasia With Joint Dislocations, Gpapp Type	Micrognathia, Knee dislocation, Irregular epiphyses of the metacarpals, Short metacarpal, Hitchhi...	OMIM:614078
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:614082
Alpha-Mannosidosis	Mandibular prognathia, Craniofacial hyperostosis, Bowing of the long bones, Inguinal hernia, Shor...	ORPHA:61
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla...	OMIM:227270
Keipert Syndrome	Broad hallux phalanx, Ptosis, Tented upper lip vermilion, Exaggerated cupid's bow, Epicanthus, Sh...	ORPHA:2662
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Ptosis, Epicanthus, Down-sloping shoulders, Carious teeth, Synophrys, Joint hyperflexibility, Sco...	ORPHA:1390
Premature Aging Syndrome, Penttinen Type	Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the knee, Palmoplantar hyperkerato...	OMIM:601812
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pes planus, Brachydactyly, Club-shaped proximal femur, Inguinal hernia, Anterior rib cupping, Hyp...	OMIM:184250
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o...	OMIM:600002
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Telecanthus, Sandal gap, Camptodactyly of finger, Craniosynostosis, Abnormalit...	ORPHA:178303
Occipital Horn Syndrome	Osteopenia, High, narrow palate, Coxa vara, Pectus carinatum, Humerus varus, Narrow chest, Short ...	ORPHA:198
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Hypoplasia of the maxilla,...	ORPHA:245
Genetic Recurrent Myoglobinuria	Proximal muscle weakness in upper limbs, Hyperkalemia, Highly elevated creatine kinase, Hyperphos...	ORPHA:99845
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Anterior rib cupping, Splenomegaly, Proximal femoral metaphyseal irregularity, Coxa v...	OMIM:602271
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism	OMIM:203330
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Ataxia, Steppage gait, Hypoalbuminemia, Hypercholesterolemia, Pes cavus	OMIM:607250
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Synophrys, Abnormal form of the vertebral bodies, Pectus carinatum, Downtu...	ORPHA:1327
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Aplasia of the pectoralis major muscle, High palat...	ORPHA:570
Bruck Syndrome 2	Osteopenia, Short stature, Flexion contracture, Elbow flexion contracture, Increased susceptibili...	OMIM:609220
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Thoracic kyphoscoliosis, Generalized hypoplasia of dental enamel, Telecanthus, Carious teeth, Fle...	OMIM:203550
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Achondrogenesis Type 1A	Multiple rib fractures, Femoral hernia, Recurrent fractures, Micromelia, Micrognathia, Abnormal e...	ORPHA:93299
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met...	ORPHA:1540
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Severe short stature, Recurrent fractures, Osteoporosis, Femoral bowing	OMIM:126550
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Abnormal metatarsal morphology, Short neck, Rhizo-meso-acromelic limb shortening, Enlarged thorax...	ORPHA:163654
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Temporomandibular joint...	OMIM:164900
Antley-Bixler Syndrome	Arachnodactyly, Talipes, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint st...	ORPHA:83
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint m...	ORPHA:324964
Calciphylaxis	Ectopic ossification, Hyperphosphatemia, Secondary hyperparathyroidism, Cellulitis	ORPHA:280062
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Noonan Syndrome 12	11 pairs of ribs, Decreased response to growth hormone stimulation test, Proximal placement of th...	OMIM:618624
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, Wi...	ORPHA:2180
Overlap Myositis	Proximal muscle weakness in upper limbs, Subluxation of the small joints of the hand, Abnormal ci...	ORPHA:206572
Odontochondrodysplasia	Delayed eruption of teeth, Bowing of the long bones, Micromelia, Coxa valga, Cone-shaped epiphysi...	ORPHA:166272
Schneckenbecken Dysplasia	Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat...	OMIM:269250
Cole-Carpenter Syndrome	Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ...	ORPHA:2050
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v...	ORPHA:98870
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp...	ORPHA:94093
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Pectus excavatum, Long fingers,...	OMIM:614753
Moebius Syndrome	Micrognathia, Short neck, Congenital fibrosis of extraocular muscles, High palate, Lower limb und...	OMIM:157900
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Lipodystrophy, Elevated circulating C-reactive protein concentration, Ly...	OMIM:618048
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Micrognathia, Thrombocytopenia, Crypt...	OMIM:614857
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt...	OMIM:607616
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology,...	ORPHA:1133
Osteosarcoma	Abnormal femoral metaphysis morphology, Osteolysis, Abnormal tibial metaphysis morphology, Pathol...	ORPHA:668
Renpenning Syndrome	Mandibular prognathia, Epicanthus, Macrodontia, Cachexia, Joint stiffness, Pectus excavatum, Abno...	ORPHA:3242
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Growth delay, Hypokalemia, Rickets	OMIM:602722
Lujan-Fryns Syndrome	Arachnodactyly, Camptodactyly of finger, Dental crowding, Micrognathia, Pectus excavatum, Hypopla...	ORPHA:776
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Obesity	OMIM:608320
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Hypochondroplasia	Brachydactyly, Aplasia/hypoplasia of the extremities, Flared metaphysis, Short long bone, Short f...	OMIM:146000
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Tibial bowing, Pectus carinatum, Iron deficiency anemia, Reduced bone mine...	ORPHA:93315
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, M...	OMIM:213980
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Short neck, Multiple joint disl...	OMIM:618395
Infantile Systemic Hyalinosis	Osteopenia, Severe short stature, Osteomalacia, Camptodactyly of finger, Recurrent fractures, Joi...	ORPHA:2176
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Synophrys, Aplasia of the distal phalanx of the 5th finger, Oligodont...	ORPHA:364577
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Ataxia, Elevated circulating creatine kinase concentration, Limb ataxia, Gait ataxia, Hypoalbumin...	OMIM:208920
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, Short neck, Talipes c...	ORPHA:818
Osteogenesis Imperfecta, Type Xvi	Microretrognathia, Multiple rib fractures, Angulated humerus, Bowing of the long bones, Rhizomeli...	OMIM:616229
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Thrombocytopenia, Abnormal thorax mor...	ORPHA:508542
3Mc Syndrome 2	Limited elbow movement, Downturned corners of mouth, High palate, Abnormal vertebral morphology, ...	OMIM:265050
Kagami-Ogata Syndrome	Omphalocele, Inguinal hernia, Long clavicles, Kyphoscoliosis, Micrognathia, Hypoplasia of the max...	OMIM:608149
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Rickets	OMIM:211600
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Severe gener...	OMIM:259420
Anauxetic Dysplasia 3	Beaking of vertebral bodies, Broad eyebrow, Short metacarpal, Thoracolumbar kyphoscoliosis, Joint...	OMIM:618853
Shprintzen-Goldberg Syndrome	Osteopenia, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Abnormal form of the ve...	ORPHA:2462
Pentasomy X	Camptodactyly of finger, Micrognathia, Small hand, Wide nasal bridge, Short foot, Upslanted palpe...	ORPHA:11
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Failure to thrive, Single transverse palmar crease, Decreased serum iron, ...	ORPHA:391372
Otospondylomegaepiphyseal Dysplasia	Enlarged joints, Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial...	ORPHA:1427
Congenital Disorder Of Glycosylation, Type Iil	Pancytopenia, Failure to thrive, Epicanthus, Elevated circulating creatine kinase concentration, ...	OMIM:614576
Heart Defects-Limb Shortening Syndrome	Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnormal form of the ver...	ORPHA:1354
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Pectus ex...	OMIM:618150
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora...	ORPHA:474
Codas Syndrome	Delayed eruption of teeth, Ptosis, Short metacarpal, Congenital hip dislocation, Abnormal dental ...	ORPHA:1458
Shox-Related Short Stature	Micrognathia, Short neck, Madelung deformity, Obesity, Genu valgum, Short foot, Tibial bowing, Fo...	ORPHA:314795
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroid...	ORPHA:2239
Cousin Syndrome	Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th...	OMIM:260660
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Rhizomelia, Thrombocytopenia	OMIM:166990
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping fing...	OMIM:612394
Rubinstein-Taybi Syndrome 2	Syndactyly, Epicanthus, Broad hallux, Highly arched eyebrow, Micrognathia, Carious teeth, Talon c...	OMIM:613684
Beta-Thalassemia Major	Extramedullary hematopoiesis, Malar prominence, Hyperplasia of the maxilla, Hypoparathyroidism, A...	ORPHA:231214
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol...	OMIM:615703
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Talipes calc...	OMIM:300534
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of ...	OMIM:613091
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Talipes, Ovoid vertebral bodies, Abnormality of the vertebr...	ORPHA:1856
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia, Micromelia, Bowing of the legs, Craniosynostosis, A...	OMIM:241500
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Extramedullary hematopoiesis, Hypoplastic ischia, Bowing of the legs, Mi...	ORPHA:313855
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tapered finger, Hypoplasia of the maxilla, Long fingers, Inability to walk, Flexion contracture, ...	OMIM:218000
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Recurrent fractures, Splenomegaly, Primary hyperparathyroidism, Anemia...	OMIM:239200
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Flar...	ORPHA:93346
Diamond-Blackfan Anemia 1	Micrognathia, Short neck, Reticulocytopenia, Hypoplastic coccygeal vertebrae, High palate, Narrow...	OMIM:105650
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,...	OMIM:271640
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Smith-Kingsmore Syndrome	Smooth philtrum, Thin upper lip vermilion, Rhizomelia, Large for gestational age, Short proximal ...	OMIM:616638
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ...	ORPHA:3312
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal dental morphology, Blepharophimosis, Open bite, Dental malocclusi...	ORPHA:3079
Nance-Horan Syndrome	Mandibular prognathia, Supernumerary tooth, Short metacarpal, Abnormality of the dentition	ORPHA:627
Hypoparathyroidism, Familial Isolated, 1	Hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Micrognathia, Osteoarthritis, Deep philtrum, Short metatarsal, Pectus carinatum, Cone...	OMIM:190350
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:613101
Folate Malabsorption, Hereditary	Ataxia, Folate-responsive megaloblastic anemia, Oral ulcer, Athetosis, Leukopenia, Neutropenia, F...	OMIM:229050
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mandibular prognathia, Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thorac...	OMIM:271510
Analbuminemia	Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles...	OMIM:616000
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal rib mor...	ORPHA:1836
Aspartylglucosaminuria	Mandibular prognathia, Pectus carinatum, Anterior beaking of lumbar vertebrae, Abnormal vertebral...	ORPHA:93
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Abnormality of the dentition, Osteolysis, Short distal phalanx of finger	ORPHA:2776
Orofaciodigital Syndrome Iii	Pectus excavatum, Kyphosis, Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Post...	OMIM:258850
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Tapered finger, Supernumerary tooth, Thin vermilion border, Elliptocytosis, Thick vermilion borde...	ORPHA:86818
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Mandibular prognathia, Epicanthus, Telecanthus, Cryptorchidism, Wide nasal bridge, Genu valgum, J...	ORPHA:1778
Fanconi Renotubular Syndrome 2	Osteopenia, Short stature, Recurrent fractures, Osteomalacia, Rickets, Hypophosphatemia	OMIM:613388
Blue Diaper Syndrome	Increased body weight, Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto...	ORPHA:67044
Patella Aplasia-Hypoplasia	Patellar aplasia, Patellar hypoplasia	OMIM:168860
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Hypoplasia of the maxilla, Hypoplastic cervical vertebrae, Vertebral hypoplasi...	ORPHA:79345
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Syndactyly, Hypopituitarism, Telecanthus, Cleft upper lip, Cry...	OMIM:603671
Cog4-Cdg	Ataxia, Failure to thrive in infancy, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia	ORPHA:263501
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Telecanthus, Postaxial polydactyly, Carious teeth, S...	OMIM:617102
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Ataxia-Pancytopenia Syndrome	Pancytopenia, Ataxia, Thrombocytopenia, Unsteady gait, Dysmetria, Acute myelomonocytic leukemia, ...	OMIM:159550
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell...	OMIM:151210
Osteogenesis Imperfecta, Type Viii	Osteopenia, Multiple prenatal fractures, Tibial bowing, Femoral bowing, Decreased skull ossificat...	OMIM:610915
Fanconi Anemia	Micrognathia, Abnormal eyelid morphology, Abnormal femur morphology, Reduced bone mineral density...	ORPHA:84
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Short palm,...	OMIM:268310
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Micrognathia, Short neck, Synophrys, Downturned corners of mouth, Oligodontia, Short philtrum, Lo...	ORPHA:391408
12Q14 Microdeletion Syndrome	Short stature, Micrognathia, Abnormality of the spleen, Osteopoikilosis, Clinodactyly of the 5th ...	ORPHA:94063
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Brachydactyly, Ptosis, Short neck, Hyperlordosis, Wide ...	ORPHA:710
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Ectopi...	ORPHA:2919
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Atelis Syndrome 1	Carious teeth, Lumbar kyphosis, Anemia, Leukopenia, High palate, Long philtrum, Downslanted palpe...	OMIM:620184
Cardiofaciocutaneous Syndrome	Short neck, High palate, Abnormal morphology of ulna, Abnormal eyelash morphology, Cryptorchidism...	ORPHA:1340
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the...	ORPHA:1788
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Femoral bowing, Shor...	OMIM:616723
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Wrist swelling, Bicarbonaturia, Osteomalacia,...	OMIM:309000
Naegeli-Franceschetti-Jadassohn Syndrome	Decreased number of sweat glands, Swelling of proximal interphalangeal joints, Interphalangeal jo...	ORPHA:69087
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Rhizomelic Chondrodysplasia Punctata, Type 5	Short humerus, Thoracic scoliosis, Swan neck-like deformities of the fingers, Broad-based gait, C...	OMIM:616716
Desbuquois Syndrome	Genu recurvatum, Camptodactyly of finger, Coxa valga, Elbow dislocation, Abnormal eyelash morphol...	ORPHA:1425
Pachydermoperiostosis	Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Small hand, Clubbing of ...	ORPHA:2796
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Synophrys, Pectus carinatum, Downtu...	ORPHA:955
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Severe short stature, Micromelia, Increased skull ossificatio...	ORPHA:1422
Bent Bone Dysplasia Syndrome 1	Natal tooth, Bent long bone, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Hepatospl...	OMIM:614592
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Craniosynostosis, Micrognathia, Cryptorchidism, Obesity...	ORPHA:171839
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi...	OMIM:179800
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Micrognathia...	OMIM:212780
Alg8-Cdg	Hyponatremia, Ataxia, Small for gestational age, Abnormality of subcutaneous fat tissue, Thromboc...	ORPHA:79325
Stüve-Wiedemann Syndrome	Osteopenia, Bowing of the long bones, Short stature, Camptodactyly of finger, Recurrent fractures...	ORPHA:3206
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Dental crowding, Micrognathia, Short neck, Generalized joint laxity, Tibial bowing, H...	ORPHA:251028
Hallermann-Streiff Syndrome	Micrognathia, High, narrow palate, Reduced bone mineral density, Glossoptosis, Rib exostoses, Cli...	ORPHA:2108
Alg12-Cdg	Proximal placement of thumb, Micrognathia, Hypoalbuminemia, Short philtrum, Abnormal bone ossific...	ORPHA:79324
Omodysplasia 2	Short humerus, Tented upper lip vermilion, Bilateral cleft lip, Micrognathia, Cryptorchidism, Ant...	OMIM:164745
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal morphology of ulna, Aplasia/Hypoplasia of the tongue, Joi...	ORPHA:2167
Cantú Syndrome	Short neck, Narrow chest, Broad ribs, Finger syndactyly, Broad hallux phalanx, Short hallux, Curl...	ORPHA:1517
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Hypoplasia of the...	ORPHA:3145
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Abnormality of neutr...	ORPHA:235
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Cryptorchidism, High palate, ...	ORPHA:85279
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no...	OMIM:250220
Mucolipidosis Iii Gamma	Increased serum beta-hexosaminidase, Abnormality of the hand, Joint stiffness, Flat capital femor...	OMIM:252605
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Absent lacrimal punctum, Telecanthus, Hypoplasia of the maxilla, Sparse eyebr...	OMIM:167730
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Amegakaryocytic thrombocytopenia, Radial bowing, Apl...	OMIM:605432
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Increased serum beta-hexos...	OMIM:252600
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus, Abnormal circ...	OMIM:620306
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Epicanthus, Accessory oral frenulum, Short thorax, Osteolysis involving bones of the ...	ORPHA:88630
Recon Progeroid Syndrome	Joint laxity, Smooth philtrum, Prominence of the premaxilla, Arachnodactyly, Dental crowding, Pro...	OMIM:620370
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Dental crowding, Hypoplasia of the maxilla, Metatarsus adductus, Thick lo...	ORPHA:293939
Desmosterolosis	Failure to thrive, Epicanthus, Rhizomelia, Micrognathia, Generalized osteosclerosis, Alveolar rid...	OMIM:602398
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Metaphyseal wid...	ORPHA:93357
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short palm, Large iliac wing, Bifid uvula, Femo...	ORPHA:2588
Acrorenal-Mandibular Syndrome	Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, High palate, Narrow chest, Hypoplas...	OMIM:200980
48,Xyyy Syndrome	Pes planus, Epicanthus, Short neck, Abnormal foot morphology, Thick lower lip vermilion, Irregula...	ORPHA:99329
Renal Tubular Acidosis Iii	Hypokalemia, Rickets, Osteomalacia	OMIM:267200
Immunodeficiency 32B	Neutrophilia, Sinusitis, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, ...	OMIM:226990
Pseudohypoparathyroidism Type 2	Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypoc...	ORPHA:94090
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Pancreatic fibrosis, Hamartoma of tongue, Lateral clavicle hook, Preaxial hand ...	OMIM:263520
Craniosynostosis 2	Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Triphalangeal th...	OMIM:604757
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Nablus Mask-Like Facial Syndrome	Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, High palate, Short hallux...	OMIM:608156
Amed Syndrome, Digenic	Acute myeloid leukemia, Telecanthus, Thrombocytopenia, Leukopenia, Bone marrow hypocellularity, L...	OMIM:619151
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
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Micromelia, Splenomegaly, Delayed epiphyseal ossification, Flared metaphysis, Coxa ...	OMIM:602557
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Shuffling gait, Short distal phalanx of finger	OMIM:300266
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Craniosynostosis, Split hand, Abnormal rib morpholog...	ORPHA:2145
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac...	ORPHA:536471
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Micrognathia, Unilateral radial aplasia, Synophrys, Aplasia of the 1st metacarpa...	ORPHA:476126
Mucolipidosis Ii Alpha/Beta	Osteopenia, Increased serum beta-hexosaminidase, Micrognathia, Metaphyseal widening, Progressive ...	OMIM:252500
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Joint stiffness, Short neck, Splenomegal...	ORPHA:583
Werner Syndrome	Increased bone mineral density, Short stature, Rocker bottom foot, Joint stiffness, Small hand, O...	ORPHA:902
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Synophrys, Cutaneous ...	OMIM:211380
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Thin upper lip vermilion, Highly arched eyebrow, Micrognathia, Cryptorchi...	OMIM:619135
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Hyponatremia, Failure to thrive, Highly arched eyebrow, Micrognathia, Hypo...	OMIM:620157
Hamamy Syndrome	Osteopenia, Micrognathia, Microcytic anemia, High palate, Clinodactyly of the 5th finger, Long to...	OMIM:611174
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki...	OMIM:300908
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Recurrent fractures, Absent ossification of calvaria, Mult...	OMIM:166210
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Epicanthus, Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Splenomegaly, Super...	OMIM:617088
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Ptosis, Hypoplasia of the maxilla, Abnormal sacrum morphology, Abnormal form of the vertebral bod...	ORPHA:93262
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Inguinal hernia, Bilateral single transverse palmar creases...	ORPHA:1786
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Camptodactyly of finger, Bone cyst, Osteoporosis, Knee osteoarthritis, Coxa vara, Short femoral n...	ORPHA:2848
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Short fourth metatarsal, Hooded eyelid, Single transverse palmar crease, A...	OMIM:619841
Chondrodysplasia Punctata 2, X-Linked Dominant	Short neck, Elevated 8(9)-cholestenol, Hemivertebrae, Rhizomelia, Sparse eyebrow, Abnormal thorax...	OMIM:302960
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Micrognathia, Cleft upper lip, Hypoplasia of the radiu...	OMIM:602418
Beemer Lethal Malformation Syndrome	Wide nasal bridge, Thrombocytopenia	OMIM:209970
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Neutrophilia	OMIM:617585
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of th...	ORPHA:163966
Campomelic Dysplasia	Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia,...	OMIM:114290
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Thrombocytopenia, Cellulitis, We...	ORPHA:47
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Kyphosco...	ORPHA:1145
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Lethal Congenital Contracture Syndrome 10	Omphalocele, Thoracic scoliosis, Overlapping fingers, Stiff neck, Micrognathia, Short neck, Narro...	OMIM:617022
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f...	OMIM:272460
Hypophosphatemic Rickets And Hyperparathyroidism	Short stature, Hypercalcemia, Rickets, Hypophosphatemia, Hypophosphatemic rickets	OMIM:612089
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Abnormal han...	OMIM:200600
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Abnormality of the knee, Congenital diaphragmatic hernia, Micrognathia, Missing ribs...	ORPHA:1834
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Split hand, Cleft palate, High palate...	OMIM:246560
Hermansky-Pudlak Syndrome 2	Smooth philtrum, Thin upper lip vermilion, Absent platelet dense granules, Epicanthus, Carious te...	OMIM:608233
Forsythe-Wakeling Syndrome	Osteoporosis, Thrombocytopenia, Decreased body weight	OMIM:613606
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Hyperlordosis, Supernumerary tooth, Tooth ...	ORPHA:3353
Congenital Disorder Of Glycosylation, Type Ih	Short neck, Thrombocytopenia, Cryptorchidism, Elevated circulating creatinine concentration, Hypo...	OMIM:608104
Fanconi Renotubular Syndrome 1	Short stature, Osteomalacia, Rickets, Hypokalemia, Hypophosphatemia	OMIM:134600
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Dk Phocomelia Syndrome	Phocomelia, Thrombocytopenia	OMIM:223340
Congenital Myopathy 22B, Severe Fetal	Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Synoph...	OMIM:620369
Rhyns Syndrome	Osteopenia, Radial bowing, Short stature, Osteoporosis, Short long bone, Short femoral neck, Brac...	OMIM:602152
Lathosterolosis	Abnormal thoracic spine morphology, Prominent metopic ridge, Toe syndactyly, Epicanthus, Talipes,...	ORPHA:46059
Melnick-Needles Syndrome	Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ...	OMIM:309350
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Eosinophilia, Single transverse palma...	OMIM:617425
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Epicanthus, Arachnodactyly, Long palm, Abnormality of the philtrum, Missing ribs, Aplasia/Hypopla...	ORPHA:2759
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Abnormal oral mucosa morphology, Splenomegaly, Weig...	ORPHA:507
48,Xxxy Syndrome	Mandibular prognathia, Short neck, Clinodactyly of the 5th finger, Abnormal dental enamel morphol...	ORPHA:96263
Spondyloenchondrodysplasia With Immune Dysregulation	Increased intervertebral space, Metaphyseal widening, T lymphocytopenia, Irregular vertebral endp...	OMIM:607944
Mirage Syndrome	Hyponatremia, Rocker bottom foot, Radial club hand, Thrombocytopenia, Cryptorchidism, Hyperkalemi...	OMIM:617053
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Congenital Disorder Of Glycosylation, Type Iif	Ataxia, Macrothrombocytopenia, Short philtrum, Neutropenia, Clinodactyly, Decreased platelet glyc...	OMIM:603585
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Epicanthus, Abnormal intervertebral disk morphology, Pectus excavatum, Carious teeth, Deep philtr...	ORPHA:2701
Isolated Thyroid-Stimulating Hormone Deficiency	Thyroid hypoplasia, Failure to thrive, Delayed cranial suture closure, Delayed proximal femoral e...	ORPHA:90674
Poems Syndrome	Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Clubbing of fingers, Scler...	ORPHA:2905
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Rhizomelia, Pterygium, Micromelia, Micrognathia, Craniosynosto...	ORPHA:93329
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar...	OMIM:250420
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Accessory oral frenulum, Hypoplasia of the maxilla, Conical tooth, Diastem...	OMIM:619142
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Ataxia, Osteolysis, Weight loss, Xanthelasma, Join...	ORPHA:35687
Holt-Oram Syndrome	Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc...	ORPHA:392
Cooper-Jabs Syndrome	Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Congenital diaphragmatic hern...	ORPHA:1488
Mannosidosis, Alpha B, Lysosomal	Mandibular prognathia, Inguinal hernia, Epicanthus, Splenomegaly, Increased vertebral height, Vac...	OMIM:248500
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li...	OMIM:311200
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the knee, Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphys...	ORPHA:93316
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen...	OMIM:278000
Autosomal Recessive Multiple Pterygium Syndrome	Multiple pterygia, Micrognathia, Abnormal eyelid morphology, Symphalangism affecting the phalange...	ORPHA:2990
Cerebrooculofacioskeletal Syndrome 1	Micrognathia, Flexion contracture, Knee flexion contracture, Cryptorchidism, Osteoporosis, Deep l...	OMIM:214150
Cranioectodermal Dysplasia 1	Single transverse palmar crease, High, narrow palate, High palate, Narrow chest, Hypocalcemia, Wi...	OMIM:218330
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Short foot, Periodontitis, Reduction of neutrophil motility, Cellulitis, Brachydactyly	OMIM:266265
Neonatal Hemochromatosis	Blepharophimosis, Increased circulating ferritin concentration, Increased serum iron, Micrognathia	ORPHA:446
Three M Syndrome 2	Delayed eruption of teeth, Scapular winging, Lumbar hyperlordosis, Small for gestational age, Sho...	OMIM:612921
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Microretrognathia, Joint laxity, Joint dislocation, Wide nasal bridge, High palate, Short clavicl...	OMIM:606220
Rubinstein-Taybi Syndrome	Micrognathia, High palate, Clinodactyly of the 5th finger, Finger syndactyly, Broad hallux phalan...	ORPHA:783
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Hypophosphatemia, Genu valgum	OMIM:618913
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Micrognathia, Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bo...	ORPHA:73230
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Micromelia, Dumbbell-shaped long bone, Lateral ...	ORPHA:3144
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Joint dislocation, Genu recurvatum, Single transverse palmar crease, Micrognathia, Fl...	OMIM:130070
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Micrognathia, Proximal placement of thumb, High, nar...	OMIM:122470
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,...	ORPHA:464329
Ivic Syndrome	Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad...	ORPHA:2307
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c...	OMIM:300863
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Knee flex...	ORPHA:3103
Noonan Syndrome 4	Pectus excavatum of inferior sternum, Epicanthus, Large for gestational age, Pectus excavatum, Cr...	OMIM:610733
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora...	OMIM:304120
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Single transverse palmar crease, Synophrys, Hemivertebrae, Coxa vara, Pectus carinatum, Clinodact...	OMIM:614701
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Sheldon-Hall Syndrome	Ulnar deviation of the wrist, Tarsal synostosis, Bilateral single transverse palmar creases, Micr...	ORPHA:1147
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t...	OMIM:276820
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Decreased testicular size, Thrombocytopenia, Adducted thumb	OMIM:601815
Babesiosis	Hemolytic anemia, Clinodactyly of the 5th toe, Splenomegaly, Limitation of joint mobility, Leukop...	ORPHA:108
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Bilateral cryptorchi...	OMIM:602535
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Diamond-Blackfan Anemia	Pure red cell aplasia, Micrognathia, Short neck, Reticulocytopenia, Leukopenia, High palate, Trip...	ORPHA:124
Poikiloderma With Neutropenia	Joint laxity, Plantar hyperkeratosis, Elevated circulating creatine kinase concentration, Microgn...	OMIM:604173
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Inguinal hernia, Epicanthus, Sandal gap, Abnormal dental enamel morphology, Supernumerary nipple,...	ORPHA:1812
Campomelic Dysplasia	11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ...	ORPHA:140
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Pes planus, Hypoplasia of the maxilla, Carious teeth, Posterior wedgin...	ORPHA:50814
8Q24.3 Microdeletion Syndrome	Thoracic scoliosis, Congenital hip dislocation, Ectopic posterior pituitary, Single transverse pa...	ORPHA:508488
Autosomal Dominant Omodysplasia	Short humerus, Rhizomelia, Micrognathia, Elbow dislocation, Cryptorchidism, Patellar dislocation,...	ORPHA:93328
Bartsocas-Papas Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Cicatricial lagophthalmos, Fle...	OMIM:263650
Stickler Syndrome	Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Abnormal form of the ...	ORPHA:828
Cole-Carpenter Syndrome 2	Microretrognathia, Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kypho...	OMIM:616294
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Short neck, Synophrys, Irregular vertebral endplates, Posterior scalloping of vertebral bodies, L...	OMIM:610442
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL...	OMIM:267700
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro...	ORPHA:2839
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Congenital diaphragmatic hernia, Micrognathia, Short neck, Multiple joint dislocation...	OMIM:245600
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact...	OMIM:210710
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, High palate, Cli...	OMIM:300373
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Hyperammonemia, Choreoathetosis, Anemia, Neutropenia, Failure to thrive, Thrombocyt...	ORPHA:79312
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Long palm, Pectus excavatum, Hypoplasia of the maxilla, Kyphosis, Pectus c...	OMIM:300676
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Increased...	OMIM:616050
Trisomy 20P	Micrognathia, Short neck, Abnormal form of the vertebral bodies, Reduced bone mineral density, Do...	ORPHA:261318
Acrocraniofacial Dysostosis	Micrognathia, Abnormal form of the vertebral bodies, Short philtrum, Triphalangeal thumb, Advance...	ORPHA:949
Prader-Willi Syndrome Due To Imprinting Mutation	Narrow palm, Small hand, Obesity, Short foot, Abnormal ulnar metaphysis morphology	ORPHA:177910
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac...	OMIM:609162
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Micrognathia, Joint stiffne...	ORPHA:1300
Fanconi-Bickel Syndrome	Osteopenia, Bowing of the long bones, Hypertriglyceridemia, Rickets, Growth delay, Hypophosphatemia	ORPHA:2088
Distal Duplication 18Q	Arachnodactyly, Camptodactyly of finger, Abnormal dental morphology, Micrognathia, Pectus excavat...	ORPHA:1716
Hemorrhagic Fever-Renal Syndrome	Back pain, Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating creatinine concentr...	ORPHA:340
Sclerosteosis 1	Mandibular prognathia, Cortically dense long tubular bones, Syndactyly, Sclerotic scapulae, Broad...	OMIM:269500
16Q24.3 Microdeletion Syndrome	Smooth philtrum, Proximal placement of thumb, Micrognathia, Highly arched eyebrow, Cryptorchidism...	ORPHA:261250
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Akinesia, Micrognat...	OMIM:253290
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Pulp obliteration, Joint hypermobility,...	ORPHA:49042
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Triphalangeal thumb, Clinodacty...	ORPHA:794
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Synophrys, Flexion contracture, Downturn...	ORPHA:487796
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum...	OMIM:617405
Hall-Riggs Syndrome	Delayed eruption of teeth, Epicanthus, Abnormal dental enamel morphology, Joint stiffness, Wide n...	ORPHA:2107
Williams Syndrome	Osteopenia, Elevated circulating creatine kinase concentration, Micrognathia, Dysmetria, Abnormal...	ORPHA:904
Cholesteryl Ester Storage Disease	Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Abnormality of the gingiva, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Micrognathia, Synophrys, Palmoplantar hyperkeratosis, Anodontia, Bilateral single transverse palm...	ORPHA:3253
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Hypotriglyceridemia, Short phalanx o...	ORPHA:85167
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Thin upper lip vermilion, Brachydactyly, Telecanthus, Joint stiffness, Synophrys, Genu valgum, Hy...	ORPHA:1295
Gracile Bone Dysplasia	Failure to thrive, Asplenia, Flared metaphysis, Thin ribs, Slender long bone, Hypocalcemia, Hypop...	OMIM:602361
Fibrochondrogenesis	Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal rib ...	ORPHA:2021
Hurler Syndrome	Short neck, Metaphyseal widening, Flexion contracture, Hernia, Microdontia, Hypoplasia of the fem...	OMIM:607014
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Synophrys, High palate, Lumbar hemivertebrae, Abnormal bone ossification, Small hypot...	ORPHA:2463
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Platyspondyly, Widely spaced teeth...	OMIM:601216
Gm1-Gangliosidosis, Type Ii	Joint stiffness, Coxa valga, Splenomegaly, Hypoplastic vertebral bodies, Sea-blue histiocytosis, ...	OMIM:230600
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hypertriglyceridemia, Chronic neutropenia, Carious teeth, Hyperlipidemia, Osteoporosi...	ORPHA:79259
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Arthritis, Increas...	OMIM:604250
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Single transverse palmar crease, Oral ulcer, Pectus carinatum, Leukopenia, Hypoplasia of the thym...	OMIM:612541
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia of the odontoid p...	OMIM:609813
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Highly arched eyebrow, Short thumb, 2-3...	ORPHA:2712
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Joint laxity, Hyperextensibility of the finger joints, Thin upper lip vermilion, Arachnodactyly, ...	OMIM:309520
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Telecanthus, Coxa valga, Hypoplasia of the maxilla, Hip dislocation, Abnormality of the vertebral...	OMIM:109120
Cornelia De Lange Syndrome	Micromelia, Micrognathia, Proximal placement of thumb, Congenital diaphragmatic hernia, Synophrys...	ORPHA:199
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ...	OMIM:253200
Gorlin Syndrome	Mandibular prognathia, Vertebral fusion, Epicanthus, Telecanthus, Arachnodactyly, Carious teeth, ...	ORPHA:377
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Widely spaced teeth, Ataxia, Cleft soft pa...	ORPHA:268261
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Epicanthus, Broad hallux, Sandal gap, Micromelia, Single transverse palmar crease, Sh...	OMIM:614800
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Micrognathia, Short neck, Vertebral segmentation de...	ORPHA:263508
Intellectual Developmental Disorder, Autosomal Recessive 68	Pes planus, Small for gestational age, Hypoplasia of the maxilla, Synophrys, Wide nasal bridge, N...	OMIM:618302
Oslam Syndrome	Abnormality of neutrophils, Carious teeth, Radioulnar synostosis, Increased mean corpuscular volu...	ORPHA:2760
Cyclic Neutropenia	Premature loss of permanent teeth, Sinusitis, Cyclic neutropenia, Perianal abscess, Cervical lymp...	ORPHA:2686
Kinsship Syndrome	Mandibular prognathia, Osteopenia, Single transverse palmar crease, Micrognathia, Short neck, Syn...	OMIM:619297
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome...	ORPHA:71275
Shwachman-Diamond Syndrome 2	Normocytic anemia, Anterior rib cupping, Hyperechogenic pancreas, Thrombocytopenia, Metaphyseal w...	OMIM:617941
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Fibular aplasia	OMIM:112310
Oculodentodigital Dysplasia	Mandibular prognathia, Abnormal clavicle morphology, Micrognathia, Abnormal form of the vertebral...	ORPHA:2710
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Dental crowding, Downturned corners of mouth, Cone-shap...	ORPHA:261323
49,Xxxxy Syndrome	Mandibular prognathia, Short neck, Clinodactyly of the 5th finger, Abnormal dental enamel morphol...	ORPHA:96264
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures, Short stature	OMIM:268315
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Elevated circulating C-reactive protein co...	OMIM:613011
Momo Syndrome	Delayed eruption of teeth, Epicanthus, Large for gestational age, Short neck, Thick lower lip ver...	ORPHA:2563
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Dentinogenesis imperfecta, Hip ...	OMIM:616507
Cystinosis	Short stature, Rickets, Hypophosphatemia, Hypokalemia, Delayed puberty	ORPHA:213
Rubinstein-Taybi Syndrome 1	Plantar crease between first and second toes, Dental crowding, Single transverse palmar crease, M...	OMIM:180849
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, High palate, Short ph...	OMIM:619127
Distal Deletion 12Q	Single transverse palmar crease, Micrognathia, Short neck, High, narrow palate, Aplasia/Hypoplasi...	ORPHA:96149
Hypophosphatemic Rickets, Autosomal Recessive, 2	Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Hypophosphatemic rickets, Genu varum	OMIM:613312
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Osteopenia, Ptosis, Lipodystrophy, Recurrent shoulder dislocation, Down-sloping shoulders, Short ...	OMIM:212112
Meier-Gorlin Syndrome 3	Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Narrow chest, Genu varum...	OMIM:613803
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Duplication of thumb phalanx, Short thumb, Anemia, Bone mar...	OMIM:616435
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Subperiosteal bone formation, Osteosclerosis of the base of the skull	OMIM:609993
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Small for gestational age, Micrognathia, Conjugated hyperbilirubinemia, Talipes calcaneovalgus, H...	OMIM:208085
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A...	OMIM:602196
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Single transverse palmar crease, Short neck, Tibial bowing, Hypo...	OMIM:269150
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,...	OMIM:308050
Griscelli Syndrome	Abnormal eyebrow morphology, Ataxia, Abnormality of neutrophils, Abnormal eyelash morphology, Spl...	ORPHA:381
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Slender long bone, Decreased calvarial o...	OMIM:618265
Gaucher Disease Type 3	Increased bone mineral density, Pancytopenia, Thrombocytopenia, Splenomegaly, Osteolysis, Increas...	ORPHA:77261
Isolated Klippel-Feil Syndrome	Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Cleft palate, Abnormal shoulder ...	ORPHA:2345
Cranioectodermal Dysplasia 2	Unilateral ptosis, Micrognathia, Short neck, Fused teeth, High palate, Narrow chest, Widely space...	OMIM:613610
Marshall Syndrome	Sparse eyelashes, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, Osteoart...	ORPHA:560
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Thin upper lip vermilion, Pancytopenia, Epicanthus, Small for gestational...	OMIM:277380
Felty Syndrome	Sinusitis, Splenomegaly, Cellulitis, Limitation of joint mobility, Abnormal joint morphology, Ost...	ORPHA:47612
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ...	OMIM:312150
Phaver Syndrome	Broad hallux phalanx, Epicanthus, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal...	ORPHA:2876
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Short neck, Synophrys, Thoracic kyphosis, Short philtrum, Tapered finger, Wide nasa...	OMIM:620250
Atelis Syndrome 2	Pes planus, Epicanthus, Sacral dimple, Single transverse palmar crease, Micrognathia, Diastema, T...	OMIM:620185
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,...	OMIM:184253
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
Dyskeratosis Congenita	Abnormality of neutrophils, Hypoplasia of the maxilla, Periodontitis, Abnormal eyelash morphology...	ORPHA:1775
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ...	OMIM:187760
Peroxisome Biogenesis Disorder 12A (Zellweger)	Short stature, Growth delay, Hyperbilirubinemia, Elevated circulating long chain fatty acid conce...	OMIM:614886
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, Truncal obesity,...	ORPHA:2928
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Short neck, Flexion contracture, Pectus carinatum, Leukopenia, Thoracic kyphosis, Hypoalbuminemia...	ORPHA:505248
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Absent lacrimal punctum, Telecanthus, Highly arched eyebrow, Hypoplasia of the...	ORPHA:228396
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bowing of the long bones, Ataxia, Metaphyseal sclerosis, Thrombocytopenia, Osteoporos...	OMIM:612199
Lig4 Syndrome	Pancytopenia, Plantar warts, Small for gestational age, Epicanthus, Cryptorchidism, Wide nasal br...	OMIM:606593
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Rickets, Short stature, Hypophosphatemia	OMIM:616026
Occipital Horn Syndrome	Persistent open anterior fontanelle, Decreased circulating ceruloplasmin concentration, Pectus ca...	OMIM:304150
Myhre Syndrome	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w...	OMIM:139210
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Diastem...	OMIM:605282
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Epicanthus, Sparse eyelashes, Single transve...	OMIM:616788
Acrofacial Dysostosis, Cincinnati Type	Ablepharon, Micrognathia, Hypoplasia of the maxilla, Upper eyelid coloboma, Cleft palate, Femoral...	OMIM:616462
Mucopolysaccharidosis, Type X	Irregular acetabular roof, Spatulate ribs, Broad clavicles, Diastema, Open bite, Hyperlordosis, W...	OMIM:619698
Branchioskeletogenital Syndrome	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Upper limb peromelia, Synophrys, Do...	ORPHA:1299
Andersen-Tawil Syndrome	Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence...	ORPHA:37553
Glycogen Storage Disease Ixa1	Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hyperammonemia, Choreoathetosis, Anemia, Neutropenia, Thrombocytopenia	ORPHA:289916
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Short neck, Flexion contracture, Pectus carinatum, Narrow greater sciatic notch, ...	OMIM:253220
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo...	ORPHA:536467
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Abnormal dental morpholog...	ORPHA:2878
Senior-Loken Syndrome 9	Osteopenia, Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Inguinal hernia, Pectus excavatum, Reduced bone mineral density, Long fibula, Abnormal metaphysis...	ORPHA:935
Jacobsen Syndrome	U-Shaped upper lip vermilion, Ptosis, Epicanthus, Telecanthus, Micrognathia, Pectus excavatum, Mi...	OMIM:147791
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Selective tooth agenesis, Supernumerary nipple, Conical tooth, Hypoplasia of th...	OMIM:106260
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Non-midline cleft lip, Abnorm...	ORPHA:3429
Hurler Syndrome	Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Splenomegaly, Limitation of jo...	ORPHA:93473
Trisomy 13	Median cleft lip, Abnormality of the dentition, Abnormal eyelash morphology, High, narrow palate,...	ORPHA:3378
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Dental crowding, Highly arched eyebrow, Micrognathia, Cryptor...	OMIM:619005
Vitamin B12-Unresponsive Methylmalonic Acidemia	Macrocytic anemia, Ataxia, Thrombocytopenia, Hyperammonemia, Choreoathetosis, Leukopenia, Anemia	ORPHA:27
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Neutrophilia, Osteomyelitis, Abscess, Elevated circulating C-reactive protein concent...	OMIM:612852
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi...	OMIM:225500
White Forelock With Malformations	Finger syndactyly, Epicanthus, Deep philtrum, Abnormal rib morphology, Joint hyperflexibility, Cl...	ORPHA:2475
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Hyperlordosis, Limitation of joint mobility, Abnormal rib morphology, ...	ORPHA:3068
Nephrotic Syndrome, Type 7	Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:615008
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly, Large for gestational age, Anemia, High palate, Bone marrow hypocellularity, Neutrope...	OMIM:614520
Atypical Werner Syndrome	Sclerosis of hand bone, Micrognathia, Reduced bone mineral density, Finger clinodactyly, Short pa...	ORPHA:79474
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Reduced bone mineral dens...	ORPHA:848
Ohdo Syndrome	Joint laxity, Ptosis, Epicanthus, Micrognathia, Sparse eyebrow, Abnormal foot morphology, Cryptor...	OMIM:249620
Eem Syndrome	Finger syndactyly, Absent eyebrow, Abnormal dental morphology, Selective tooth agenesis, Carious ...	ORPHA:1897
Mandibulofacial Dysostosis-Microcephaly Syndrome	Epicanthus, Telecanthus, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxi...	ORPHA:79113
Primrose Syndrome	Hypoplasia of the maxilla, Bilateral cryptorchidism, Synophrys, Flexion contracture, Knee flexion...	OMIM:259050
Achondrogenesis, Type Ii	Barrel-shaped chest, Microretrognathia, Absent vertebral body mineralization, Broad long bones, S...	OMIM:200610
Exercise-Induced Malignant Hyperthermia	Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypo...	ORPHA:466650
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Lateral clavicle hook, Cryptorchidism, Obesity, Bell-shaped thorax, Short ...	OMIM:615633
Meier-Gorlin Syndrome 4	Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Cryptorchidism, ...	OMIM:613804
Morgagni-Stewart-Morel Syndrome	Osteoarthritis, Osteoporosis, Obesity, Hyperostosis frontalis interna, Hyperuricemia, Hypercholes...	ORPHA:77296
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Cerebrofacioarticular Syndrome	Osteopenia, Syndactyly, Irregular dentition, Epicanthus, Ataxia, Micrognathia, Hypoplasia of the ...	ORPHA:314679
Xylt1-Cdg	Joint laxity, Pes planus, Joint dislocation, Coxa valga, Synophrys, Flared metaphysis, Cleft pala...	ORPHA:370930
Aicardi-Goutieres Syndrome 6	Loss of ambulation, Hemolytic anemia, Thrombocytopenia, Splenomegaly	OMIM:615010
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Failure to...	OMIM:615285
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Palmar pits, Plantar pits, Hemivertebrae, Abnormal sternum morphology, Ver...	OMIM:109400
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Bilateral cleft palate, Anemia of inadequate production, Absent thumb, Un...	OMIM:614900
Flat Face-Microstomia-Ear Anomaly Syndrome	Inguinal hernia, Telecanthus, Camptodactyly of finger, Abnormal oral mucosa morphology, Micrognat...	ORPHA:1968
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Small for gestational age, Rocker bottom foot, Recurrent fractures, Micrognathia, ...	ORPHA:453510
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Pectus excavatum, Leukocytosi...	OMIM:618278
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal...	OMIM:308240
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Long nose, Short n...	ORPHA:2636
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin...	ORPHA:158061
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Osteoporosis, Rickets	OMIM:560000
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T...	ORPHA:494444
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Inguinal hernia, Abnormal intervertebral disk ...	ORPHA:2311
Microcephaly-Capillary Malformation Syndrome	Ptosis, Small for gestational age, Hypoplasia of the maxilla, Cleft palate, Clinodactyly, Failure...	OMIM:614261
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Laterally curved eye...	OMIM:300166
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Short neck, Flexion contracture, Downturned corners of mouth, Hypoplasia of the thy...	OMIM:264090
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Genu valgum, Growth delay, Overgrowth, Joint hypermobility	OMIM:617798
Prolidase Deficiency	Arachnodactyly, Micrognathia, Carious teeth, Splenomegaly, Genu valgum, Reduced bone mineral dens...	ORPHA:742
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Hypocholesterolemia	OMIM:607765
Gorlin-Chaudhry-Moss Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Abnormal foot morphology, Abnormal eyeli...	ORPHA:2095
Mevalonic Aciduria	Normocytic hypoplastic anemia, Ataxia, Elevated circulating creatine kinase concentration, Elevat...	OMIM:610377
Aspergillosis	Sinusitis, Osteomyelitis, Eosinophilia, Dacryocystitis, Abnormal rib morphology, Abnormal long bo...	ORPHA:1163
Gapo Syndrome	Mandibular prognathia, Abnormal clavicle morphology, Delayed eruption of teeth, Sparse eyelashes,...	ORPHA:2067
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Absent eyebrow, Erythrodontia, Splenomegaly, Loss of eyelashes, Ost...	OMIM:263700
Monosomy 18P	Ptosis, Epicanthus, Kyphoscoliosis, Micrognathia, Pectus excavatum, Carious teeth, Short neck, Wi...	ORPHA:1598
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Broad eyebrow, Highly arched eyebrow, Long nose, Inability to walk, High nonceruloplasmin-bound s...	ORPHA:457351
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing, Lung abscess, Decreased circulating beta-2-microglobulin l...	OMIM:241600
Gaucher Disease	Osteopenia, Increased bone mineral density, Osteomyelitis, Short stature, Recurrent fractures, El...	ORPHA:355
Lowry-Maclean Syndrome	Osteopenia, Inguinal hernia, Single transverse palmar crease, Delayed eruption of primary teeth, ...	ORPHA:2409
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypercholesterolemia, Hyperammonemia, Increased C-peptide level	OMIM:620211
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Orofaciodigital Syndrome Type 1	Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t...	ORPHA:2750
Fanconi Anemia, Complementation Group C	Pancytopenia, Epicanthus, Small for gestational age, Absent thumb, Absent radius, Short thumb, Th...	OMIM:227645
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Kaufman Oculocerebrofacial Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, High palate, Hypochole...	OMIM:244450
Monosomy 9Q22.3	Large for gestational age, Palmar pits, Short neck, Plantar pits, Orofacial cleft, Odontogenic ke...	ORPHA:77301
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentr...	OMIM:603553
Autosomal Dominant Hypocalcemia	Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Codas Syndrome	Congenital hip dislocation, Proximal placement of thumb, Generalized joint laxity, Short phalanx ...	OMIM:600373
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me...	OMIM:602875
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ...	OMIM:134780
Familial Isolated Hyperparathyroidism	Osteopenia, Hypercalcemia, Primary hyperparathyroidism, Hypophosphatemia, Parathyroid adenoma, Ch...	ORPHA:99879
Osteogenesis Imperfecta, Type Iv	Short stature, Recurrent fractures, Increased susceptibility to fractures, Reduced bone mineral d...	OMIM:166220
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Severe periodontitis, Microcytic anemia, Deep philtrum, Premature loss of ...	ORPHA:99843
Rapp-Hodgkin Syndrome	Conical tooth, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, Microdontia, Bifid uvula,...	OMIM:129400
Autosomal Dominant Spondylocostal Dysostosis	Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m...	ORPHA:1797
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Clinodactyly of the 5th finger, Lymphopenia, Hypoproteinemia, Bilateral single transverse palmar ...	ORPHA:1116
Congenital Bile Acid Synthesis Defect Type 2	Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Postnatal growth retardation, Ricket...	ORPHA:79303
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Flexion contracture, F...	OMIM:207410
Nance-Horan Syndrome	Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incis...	OMIM:302350
Becker Nevus Syndrome	Lipoatrophy, Micromelia, Lower limb asymmetry, Pectus excavatum, Supernumerary nipple, Abnormal t...	ORPHA:64755
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Short neck, Lobulated tongue, Thoracic dysplasia, Narrow chest, Short palm, H...	OMIM:269860
Weill-Marchesani Syndrome 1	Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Hypoplasia of the maxilla, Broad palm, N...	OMIM:277600
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Joi...	OMIM:182250
Farber Disease	Abnormality of the knee, Abnormality of the hand, Abnormal foot morphology, Short toe, Thrombocyt...	ORPHA:333
Alpha-Mannosidosis, Infantile Form	Mandibular prognathia, Osteopenia, Thickened ribs, Short neck, Pectus carinatum, Cortical thicken...	ORPHA:309282
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palate, Flexion contractu...	ORPHA:95699
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula...	ORPHA:470
Congenital Rubella Syndrome	Splenomegaly, Thrombocytopenia, Abnormal metaphysis morphology, Anemia	ORPHA:290
Alagille Syndrome	Hypoplasia of the ulna, Micrognathia, Long nose, Cryptorchidism, Abnormal rib morphology, Spina b...	ORPHA:52
Short Stature, Microcephaly, And Endocrine Dysfunction	Lymphopenia, Broad-based gait, Inguinal hernia, Ataxia, Long nose, Cryptorchidism, Tooth malposit...	OMIM:616541
Glass Syndrome	Dental crowding, Anterior tibial bowing, Micrognathia, Long nose, Conical tooth, Oligodontia, Hig...	OMIM:612313
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Accessory spleen, Smooth philtrum, Severe B lymphocytopenia, Delayed cranial su...	OMIM:620005
Noonan Syndrome 14	Short neck, High, narrow palate, Pectus carinatum, Scapular winging, Sparse eyebrow, Cryptorchidi...	OMIM:619745
Catel-Manzke Syndrome	Joint dislocation, Single transverse palmar crease, Micrognathia, Short neck, Pectus carinatum, G...	OMIM:616145
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal erythrocyte en...	ORPHA:264580
3-Methylglutaconic Aciduria, Type Viib	Rhizomelia, Ataxia, Micrognathia, Trismus, Brachioradialis areflexia, Flexion contracture, Choreo...	OMIM:616271
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto...	OMIM:614700
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th fing...	OMIM:117650
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Clinodactyly, Oligodontia, Calvarial osteosclerosis, Cleft soft pa...	OMIM:616331
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Abnormal form of the vert...	ORPHA:280
Bloom Syndrome	Syndactyly, Small for gestational age, Elevated hemoglobin A1c, Cryptorchidism, Agenesis of maxil...	OMIM:210900
Mycetoma	Back pain, Abnormality of the knee, Osteomyelitis, Abnormality of the hand, Structural foot defor...	ORPHA:2583
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Abnormal pala...	ORPHA:1506
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Synophrys, High palate, Premature l...	OMIM:102500
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ...	ORPHA:2879
Crisponi/Cold-Induced Sweating Syndrome 1	Pes planus, Kyphoscoliosis, Micrognathia, Carious teeth, Trismus, Tapered finger, Narrow mouth, E...	OMIM:272430
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Ataxia, Avascular necrosis of the capital femoral epiphysis, Crypt...	OMIM:613990
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu...	OMIM:187600
Systemic Lupus Erythematosus 17	Autoimmune thrombocytopenia, Oral ulcer, Leukopenia, Lymphopenia, Thrombocytopenia	OMIM:301080
Chromosome 19Q13.11 Deletion Syndrome, Distal	Micrognathia, Cutaneous finger syndactyly, Short philtrum, Clinodactyly of the 5th finger, Sparse...	OMIM:613026
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Peters-Plus Syndrome	Short lingual frenulum, Single transverse palmar crease, Proximal placement of thumb, Micrognathi...	OMIM:261540
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Severe B lymphocytopenia, Anterior rib cupping, Aplasia o...	OMIM:102700
Symptomatic Form Of Hfe-Related Hemochromatosis	Arthropathy, Abnormal metacarpophalangeal joint morphology, Joint stiffness, Splenomegaly, Elevat...	ORPHA:465508
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Lateral clavicle hook, Conjugated hyperbilirubinemia, Early ossification of capital femoral epiph...	OMIM:208500
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Carious teeth, Downturned corners of mouth, Hypoplasia of the zygomatic bo...	ORPHA:1110
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport...	OMIM:212050
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi...	OMIM:151050
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Femur fracture, Delayed eruption of primary teeth, Micrognat...	OMIM:619322
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Synophrys, Broad ribs, Broad metacarpals, Tapered finger, Hyperlordosis, Cleft lip, Obesity, Hepa...	OMIM:301066
Frontorhiny	Pericallosal lipoma, Ptosis, Epicanthus, Lumbar hyperlordosis, Camptodactyly of finger, Hypoplasi...	ORPHA:391474
Harrod Syndrome	Arachnodactyly, Long nose, Cryptorchidism, Kyphosis, Dental malocclusion, Abnormal shoulder morph...	ORPHA:2115
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Irregular fe...	OMIM:613805
Mosaic Trisomy 8	Camptodactyly of finger, Micrognathia, Short neck, Cryptorchidism, Patellar aplasia, Abnormal rib...	ORPHA:96061
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Short stature, Postnatal growth retardation, Osteoporosis, Rickets, Iron defic...	OMIM:212750
Aicardi-Goutieres Syndrome 3	Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vertebral fusion, Epicanthus, Vaginal hernia, Macrodontia, Abnormal dental...	ORPHA:2916
Jacobsen Syndrome	Short neck, Abnormal form of the vertebral bodies, Eyelid coloboma, Long hallux, Broad hallux pha...	ORPHA:2308
Weill-Marchesani Syndrome 2	Hypoplasia of the maxilla, Short metatarsal, High palate, Shallow orbits, Broad ribs, Broad metac...	OMIM:608328
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly, Osteoporo...	ORPHA:79240
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei...	ORPHA:64753
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Generalized joint laxity, Coxa vara, High palate, Cryptor...	ORPHA:2834
Mucopolysaccharidosis, Type Iiid	Thoracic scoliosis, Thickened ribs, Short neck, Synophrys, Ovoid thoracolumbar vertebrae, Hypopla...	OMIM:252940
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormal clavicle morphology, Abnormality of the philtrum, Abnormality of the ...	ORPHA:276422
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion...	OMIM:618022
Distal Duplication 5Q	Hypoplasia of the ulna, Epicanthus, Craniosynostosis, Absent thumb, Carious teeth, Micrognathia, ...	ORPHA:96097
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Hyperextensibility of the finger joints, Pes planus, Thin upper lip vermilion, Absent g...	ORPHA:163979
Nestor-Guillermo Progeria Syndrome	Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Micro...	OMIM:614008
Duplication Of The Pituitary Gland	Thoracic scoliosis, Abnormal odontoid process morphology, Abnormality of joint mobility, Short ne...	ORPHA:314621
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Failure to thrive, Kyphoscoliosis, Hip dislocation, Wide nasal bridge, High palate, N...	OMIM:618005
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Eosinophilia, Micrognath...	OMIM:617237
Sillence Syndrome	Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r...	ORPHA:3168
Blepharo-Cheilo-Odontic Syndrome	Finger syndactyly, Abnormal eyelid morphology, Carious teeth, Conical tooth, Ectropion of lower e...	ORPHA:1997
Galactokinase Deficiency	Small for gestational age, Hepatosplenomegaly, Increased level of galactitol in plasma, Hypergala...	ORPHA:79237
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Abnormali...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Abnormali...	ORPHA:353277
Propionic Acidemia	Pancytopenia, Thrombocytopenia, Osteoporosis, Hyperammonemia, Hyperglycinemia, Neutropenia, Failu...	OMIM:606054
Monosomy 9P	Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, Short neck, Synophrys...	ORPHA:261112
Bone Marrow Failure Syndrome 4	Rhizomelia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:618116
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio...	OMIM:187601
Marden-Walker Syndrome	Micrognathia, Short neck, High, narrow palate, Abnormal sternum morphology, Congenital contractur...	OMIM:248700
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Eyelid coloboma, Hypoplasia of the thymus,...	ORPHA:861
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Micrognathi...	OMIM:263750
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Straight clavicles, Multiple impacted teeth, Short clavicles,...	OMIM:113300
Congenital Heart Defects And Skeletal Malformations Syndrome	Dental crowding, Congenital diaphragmatic hernia, Long nose, Downturned corners of mouth, High pa...	OMIM:617602
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Lymphade...	OMIM:619644
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Hallux valgus, Prominent metopic ridge, Broad h...	OMIM:614188
Holt-Oram Syndrome	Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Abnormal vertebral morphol...	OMIM:142900
Osteogenesis Imperfecta, Type Vii	Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest,...	OMIM:610682
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Thin upper lip vermilion, Thick eyebrow, Hypoplasia of the maxilla, Synophrys, Upslanted palpebra...	OMIM:618737
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Diastema, Agenesis of molar, Supernumerary tooth, Cryptorchidis...	OMIM:619718
Spondyloocular Syndrome	Long toe, Osteopenia, Pes planus, Overlapping toe, Arachnodactyly, Femur fracture, Short stature,...	OMIM:605822
Preeclampsia	Small for gestational age, Elevated circulating creatinine concentration, Thrombocytopenia, Polyc...	ORPHA:275555
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Anterior open-bite malocclusion, Thrombocytopenia, Goiter	ORPHA:83601
Goldberg-Shprintzen Syndrome	Telecanthus, Highly arched eyebrow, Tapered finger, Hypoplasia of the maxilla, Short neck, Synoph...	OMIM:609460
Deeah Syndrome	Decreased hemoglobin concentration, Decreased response to growth hormone stimulation test, Anteri...	OMIM:619004
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Thin bony cortex, Short stature, Broad ischia, Diaphyseal dysplasia, Scler...	OMIM:619727
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Ataxia, Limb joint contracture, Tapered finger, Splenomegaly, Flexion ...	OMIM:301072
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, H...	ORPHA:373
22Q11.2 Deletion Syndrome	Micrognathia, Abnormal eyelid morphology, Short neck, Hypoplasia of the thymus, Hypocalcemia, Sho...	ORPHA:567
Rhabdoid Tumor	Hypercalcemia, Lymphadenopathy, Anemia, Weight loss, Thrombocytopenia	ORPHA:69077
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla...	ORPHA:2491
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Small for gestational age, Hypoplasia of the maxilla, Upslanted palpebral ...	ORPHA:93950
Dubowitz Syndrome	Aplastic anemia, Single transverse palmar crease, Micrognathia, High palate, Hypocholesterolemia,...	OMIM:223370
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Missing ribs, Cleft upper lip, Hiatus hernia, Rib ...	ORPHA:50
Oculocerebrocutaneous Syndrome	Finger syndactyly, Ptosis, Congenital hip dislocation, Talipes, Congenital diaphragmatic hernia, ...	ORPHA:1647
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Single transverse palmar crease, Flexion contracture, Wrist flexion contracture, Long toe, Joint ...	ORPHA:254528
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Tularemia	Brain abscess, Mediastinal lymphadenopathy, Leukocytosis, Cervical lymphadenopathy, Oral ulcer, L...	ORPHA:3392
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation	OMIM:264270
Khan-Khan-Katsanis Syndrome	Failure to thrive, Tented upper lip vermilion, Sacral dimple, Postaxial polydactyly, Micrognathia...	OMIM:618460
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Kyphoscoliosis, Abnormality of the dentition, Synophrys, 2-3 toe syndactyly, Thin vermilion borde...	ORPHA:391307
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Ear-Patella-Short Stature Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clinodactyly of the 5th finger, Bif...	ORPHA:2554
Crane-Heise Syndrome	Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Aplastic ...	ORPHA:1512
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Elbow contracture, 2-3 toe syndactyly, Knee flexion contracture, Irregular epiphyses,...	OMIM:618162
Faciocardiomelic Syndrome	Osteopenia, Micrognathia, Slender long bone, Polydactyly, Hypoplastic pelvis, Thin bony cortex	OMIM:612731
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple...	ORPHA:98850
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Joint dislocation, Joint stiffness, Splenomegaly, Cleft palate, Reduced bone mineral density, Leu...	OMIM:620210
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Tall stature, Short stature, Recurrent fractures, Long f...	OMIM:309583
Ulnar-Mammary Syndrome	Abnormal clavicle morphology, Abnormal morphology of the radius, Camptodactyly of finger, Abnorma...	ORPHA:3138
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele, Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Lateral clavicle...	OMIM:617895
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Long nose, Partial duplication of the distal phalanx of the 3rd finger...	OMIM:101400
Dent Disease 2	Umbilical hernia, Elevated circulating creatine kinase concentration, Hypophosphatemia	OMIM:300555
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Micrognathia, Bi...	OMIM:609465
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Delayed eruption of teeth, Finger syndact...	ORPHA:87
Beta-Thalassemia Intermedia	Osteopenia, Increased HbA2 hemoglobin, Hypoparathyroidism, Extramedullary hematopoiesis, Anemia o...	ORPHA:231222
Cat-Eye Syndrome	Downslanted palpebral fissures, Hip dysplasia, Abnormal rib morphology	ORPHA:195
Toluene Embryopathy	Epicanthus, Tapered finger, Micrognathia, Cryptorchidism, Thin vermilion border, Hypoplasia of th...	ORPHA:1920
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Septic ar...	OMIM:617780
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Thick eyebrow, Telecanthus, Symblepharon, Short neck, Abnormal rib morphology, Small ...	ORPHA:488434
Hjv Or Hamp-Related Hemochromatosis	Arthropathy, Increased circulating ferritin concentration, Elevated transferrin saturation, Osteo...	ORPHA:79230
Pearson Syndrome	Decreased response to growth hormone stimulation test, Hypocalcemia, Neutropenia, Hypoparathyroid...	ORPHA:699
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos...	ORPHA:91547
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Sparse eyelashes, Carious teeth, Osteoporosis, Nasolacrimal duct o...	OMIM:224230
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Oral ulcer, Polyarticular arthritis, Lymphopenia, Thrombocytopenia	OMIM:616744
Distal 17P13.1 Microdeletion Syndrome	Arachnodactyly, Limited elbow movement, Abnormal hand morphology, Generalized joint laxity, Hypop...	ORPHA:319171
Wolfram Syndrome 1	Sideroblastic anemia, Ataxia, Megaloblastic anemia, Limited mobility of proximal interphalangeal ...	OMIM:222300
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal clavicle morphology, Absent eyebrow, Abnormal dental morphology, Abnormal dental enamel ...	ORPHA:85199
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Decreased/absent ankle reflexes, Leukopenia, T lymphocytopenia, High pala...	ORPHA:443811
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, M...	OMIM:256040
Postaxial Acrofacial Dysostosis	Finger syndactyly, Hypoplasia of the ulna, Camptodactyly of finger, Supernumerary nipple, Microgn...	ORPHA:246
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Hypo...	ORPHA:167
Ataxia-Oculomotor Apraxia 4	Ataxia, Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemia, Hyperchol...	OMIM:616267
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Osteomyelitis, Elevated circulating creatine kinase concentration, Abscess,...	ORPHA:36234
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density, Hyperoxaluria	OMIM:259900
Congenital Disorder Of Glycosylation, Type Iiw	Pes planus, Inguinal hernia, Micrognathia, Pectus excavatum, Microcytic anemia, Supernumerary too...	OMIM:619525
Say-Barber-Miller Syndrome	Micrognathia, Patellar hypoplasia, Knee flexion contracture, Abnormal T cell morphology, High pal...	ORPHA:3132
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i...	OMIM:619130
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly, Abnormality of iron homeostasis	ORPHA:75563
3Mc Syndrome	Ptosis, Telecanthus, Craniosynostosis, Supernumerary nipple, Bilateral cryptorchidism, Highly arc...	ORPHA:293843
Sweeney-Cox Syndrome	2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Prominent metopic ridge, Micrognathia, As...	OMIM:617746
Lymphangiectasia, Intestinal	Lymphopenia, Prominent floating ribs, Neonatal hypoproteinemia, Pedal edema	OMIM:152800
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Pes planus, Short femur, Short stature, Talipes, Micrognathia, Anemia, Elliptocytosis, Talipes eq...	OMIM:300990
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Ataxia, Carious teeth, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mea...	OMIM:127550
Kbg Syndrome	Tented upper lip vermilion, Single transverse palmar crease, Short neck, Synophrys, Widely-spaced...	OMIM:148050
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:2123
Contractures-Developmental Delay-Pierre Robin Syndrome	Inguinal hernia, Arachnodactyly, Overlapping toe, Thoracolumbar scoliosis, Micrognathia, Metatars...	ORPHA:436003
Radio-Renal Syndrome	Micromelia, Micrognathia, Short neck, High, narrow palate, Hypoplasia of the radius, Abnormal rib...	ORPHA:3015
Trisomy 1Q	Microretrognathia, Omphalocele, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenit...	ORPHA:261344
Charge Syndrome	Abnormal palmar dermatoglyphics, Decreased response to growth hormone stimulation test, Micrognat...	OMIM:214800
Barber-Say Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Widely spaced teeth,...	OMIM:209885
Immunodeficiency 46	Intermittent thrombocytopenia, Conjunctivitis, Neutropenia, Failure to thrive, Anemia	OMIM:616740
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase...	OMIM:613845
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ...	ORPHA:85165
Ogden Syndrome	Congenital hip dislocation, Micrognathia, Abnormal eyelid morphology, Short neck, Deep philtrum, ...	OMIM:300855
Maternal Uniparental Disomy Of Chromosome 6	Inguinal hernia, Cleft upper lip, Cleft palate, Hydrocele testis, Slender long bone, Congenital a...	ORPHA:96181
Frank-Ter Haar Syndrome	Short palm, Osteopenia, Bowing of the long bones, Micrognathia, Metatarsus adductus, Flared metap...	OMIM:249420
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, Short metatarsal, Narrow foot, Tibial bowing, Tarsometatarsal synostosi...	OMIM:600383
Prolidase Deficiency	Micrognathia, Splenomegaly, Anemia, High palate, Short nose, Failure to thrive, Thrombocytopenia,...	OMIM:170100
Transaldolase Deficiency	Thrombocytopenia, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased ser...	ORPHA:101028
Zttk Syndrome	Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Downturned corners of mouth, High ...	OMIM:617140
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Pathologic fracture, Vertebral compression fra...	OMIM:230800
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Progressive cer...	OMIM:277460
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Sparse eyelashes, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of...	OMIM:616367
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Micromelia, Conical incisor, Narrow chest, Microdontia, Synostos...	ORPHA:289
Gaucher Disease, Perinatal Lethal	Everted upper lip vermilion, Akinesia, Micrognathia, Thrombocytopenia, Splenomegaly, Narrow mouth...	OMIM:608013
Fanconi-Bickel Syndrome	Hypouricemia, Osteomalacia, Postnatal growth retardation, Rickets, Hypophosphatemia, Hypokalemia,...	OMIM:227810
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Hypoplasia of the maxilla, Abnormal eyelash morphology, Sparse e...	ORPHA:2399
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Gaisböck Syndrome	Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati...	ORPHA:90041
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad...	ORPHA:444463
Oculodentodigital Dysplasia	Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Microdontia, Prematur...	OMIM:164200
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Thrombo...	ORPHA:158048
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Fanconi Anemia, Complementation Group V	Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari...	OMIM:617243
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Orofaciodigital Syndrome Xix	Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Broad hallux, Cleft soft...	OMIM:620107
Spondylospinal Thoracic Dysostosis	Multiple pterygia, Micrognathia, Hypoplasia of the maxilla, Short thorax, Arthrogryposis multiple...	OMIM:601809
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Autoimmune hemolytic anemia, Sinusitis, Sandal gap, Epicanthus, Mala...	OMIM:251260
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Congenital diaphragmatic hernia, Microgn...	OMIM:154400
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Rib fusion, Unilateral brachydactyly, Hemivertebrae, Short r...	OMIM:173800
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Joint hypermobil...	OMIM:300972
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Adams-Oliver Syndrome	Finger syndactyly, Brachydactyly, Talipes, Abnormality of the lower limb, Absent toe, Split hand,...	ORPHA:974
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Ataxia, Hypouricemia, Increased circulating guanosine con...	OMIM:613179
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia	OMIM:133180
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Telecanthus, Aplasia/Hypoplasia of the tongue, Micrognathia, Ad...	ORPHA:989
Cowden Syndrome 1	Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Kyphosis, Palmoplantar hyperkeratosis,...	OMIM:158350
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Micrognathia, Short neck, Abnormality of the gingiva, Tibial bowing...	ORPHA:798
Hemochromatosis, Type 2B	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Incr...	OMIM:613313
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Micrognathia, Orofacial cleft, Abnormal form of the vertebral bo...	OMIM:194190
Wilson Disease	Back pain, Abnormality of the hand, Thrombocytopenia, Splenomegaly, Increased body weight, Weight...	ORPHA:905
Fanconi Anemia, Complementation Group F	Sacral dimple, Decreased response to growth hormone stimulation test, Absent thumb, Short thumb, ...	OMIM:603467
Fanconi Anemia, Complementation Group E	Pancytopenia, Small for gestational age, Absent thumb, Absent radius, Short thumb, Thrombocytopen...	OMIM:600901
Wolcott-Rallison Syndrome	Hyponatremia, Metaphyseal dysplasia, Neutropenia, Hyperammonemia, Iron deficiency anemia, Hypoalb...	ORPHA:1667
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Abnormal curvature of the vertebral column, Abnormality of the cervical spine, J...	ORPHA:353281
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi...	ORPHA:93317
Endocrine-Cerebroosteodysplasia	Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Ankyloblepharon,...	OMIM:612651
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Cystinosis, Nephropathic	Hyponatremia, Failure to thrive in infancy, Splenomegaly, Metaphyseal widening, Rickets, Reduced ...	OMIM:219800
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Osteopenia, Aplastic anemia, Eosinophilia, Cellulitis, Premature loss of ...	ORPHA:486
Sifrim-Hitz-Weiss Syndrome	Epicanthus, Tapered finger, Cryptorchidism, Flat acetabular roof, Upslanted palpebral fissure, Fu...	OMIM:617159
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Holoprosencephaly	Congenital diaphragmatic hernia, Short neck, Abnormality of the spleen, Deep philtrum, Synophrys,...	ORPHA:2162
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas...	OMIM:603554
Focal Dermal Hypoplasia	Abnormal palmar dermatoglyphics, Congenital diaphragmatic hernia, Hernia, Finger syndactyly, Abno...	ORPHA:2092
Campomelia, Cumming Type	Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Pancreatic cysts, Abnormal t...	ORPHA:1318
Craniolenticulosutural Dysplasia	Osteopenia, High palate, Narrow chest, Bifid uvula, Joint laxity, Cryptorchidism, Wide nasal brid...	OMIM:607812
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ...	OMIM:617021
Hypercalcemia, Infantile, 2	Failure to thrive, Hypercalcemia, Hypophosphatemia	OMIM:616963
Floating-Harbor Syndrome	Enlarged joints, Short neck, Hypoplasia of the maxilla, Long nose, Humeral pseudarthrosis, Oligod...	ORPHA:2044
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures, Hip dyspl...	OMIM:166200
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Inguinal hernia, Congenital hip dislocation, Lipodystrophy, Delayed closure of the anterior fonta...	ORPHA:357074
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, High palate, Spina bifida occulta, Abn...	OMIM:218600
Cutis Laxa, Autosomal Recessive, Type Iia	Pes planus, Inguinal hernia, Congenital hip dislocation, Lipodystrophy, Carious teeth, High palat...	OMIM:219200
Fanconi Anemia, Complementation Group A	Pancytopenia, Small for gestational age, Absent thumb, Absent radius, Short thumb, Thrombocytopen...	OMIM:227650
Mogs-Cdg	Thoracic scoliosis, Hepatosplenomegaly, Hydrocele testis, High palate, Long eyelashes, Overlappin...	ORPHA:79330
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ...	OMIM:155100
Proximal 16P11.2 Microdeletion Syndrome	Craniosynostosis, Micrognathia, Congenital diaphragmatic hernia, Rib fusion, Obesity, Cleft palat...	ORPHA:261197
Holocarboxylase Synthetase Deficiency	Ataxia, Hyperammonemia, Keratoconjunctivitis, Weight loss, Thrombocytopenia	ORPHA:79242
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Synophrys, Flexion contracture, Abnormal form of the vertebral bodi...	ORPHA:581
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Micromelia, Micrognathia, Flexion contracture, Osteoporosis, Rickets, L...	ORPHA:2671
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh...	ORPHA:2347
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Increased mean platelet volume, Thrombocytopenia, Increased size of the mandible, Downslanted pal...	OMIM:300048
Faciodigitogenital Syndrome, Autosomal Recessive	Deep philtrum, High palate, Clinodactyly of the 5th finger, Syndactyly, Vertebral fusion, Cryptor...	OMIM:227330
Kindler Epidermolysis Bullosa	Finger syndactyly, Abnormal dental enamel morphology, Camptodactyly of finger, Premature loss of ...	ORPHA:2908
Orofaciodigital Syndrome Type 14	Microretrognathia, Telecanthus, Broad hallux, Deviation of the hallux, Accessory oral frenulum, H...	ORPHA:434179
Robinow Syndrome	Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Syndacty...	ORPHA:97360
Severe Oculo-Renal-Cerebellar Syndrome	Mandibular prognathia, Sandal gap, Malar prominence, Choreoathetosis, Joint hyperflexibility, Wid...	ORPHA:2715
Chand Syndrome	Short fifth metatarsal, Ataxia, Cleft palate, Agenesis of permanent teeth, Ankyloblepharon, Abnor...	ORPHA:1401
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Joint stiffness, Microg...	ORPHA:2062
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia, Leukocytosis, Hypopituitarism	ORPHA:90065
Acromelic Frontonasal Dysplasia	Telecanthus, Median cleft lip, Anterior pituitary hypoplasia, Midline central nervous system lipo...	ORPHA:1827
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, Failure to thri...	OMIM:251000
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Single transverse palmar crease, Micrognathia, Biliary hyperplasia, Pan...	ORPHA:83617
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Thyrocerebrorenal Syndrome	Thrombocytopenia, Euthyroid goiter, Nonprogressive cerebellar ataxia	ORPHA:3327
Crouzon Syndrome	Hypoplasia of the maxilla, Abnormal sacrum morphology, Narrow palate, Multiple suture craniosynos...	ORPHA:207
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Telecanthus, Broad hallux, Hamartoma of tongue, Micrognathia, Cle...	OMIM:615948
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Short lingual frenulum, Flexion contracture, Wide n...	OMIM:619479
Roch-Leri Mesosomatous Lipomatosis	Multiple lipomas, Thrombocytopenia	ORPHA:529
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Inability to walk, Failure to thrive, Scoliosis, Thrombocytopenia	OMIM:616577
3Mc Syndrome 1	Conjunctival telangiectasia, Dental crowding, Synophrys, Epicanthus inversus, Clinodactyly of the...	OMIM:257920
Gaucher Disease, Type Iii	Pancytopenia, Ataxia, Splenomegaly, Decreased body weight, Thrombocytopenia	OMIM:231000
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Failure to thrive, Decreased serum iron, Carious teeth, Narrow mouth, Flexion contracture, Anemia...	ORPHA:89842
Congenital Toxoplasmosis	Thrombocytopenia, Failure to thrive in infancy, Anemia, Lymphadenopathy	ORPHA:858
Fetal Gaucher Disease	Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, High palate, Arthrogr...	ORPHA:85212
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Holoprosencephaly 9	Hypoplasia of the premaxilla, Decreased response to growth hormone stimulation test, Cleft upper ...	OMIM:610829
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Epicanthus, Sacral dimple, Tapered finger, Wide nasal b...	OMIM:613603
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypercalcemia, Hypermagnesemia, Osteomalacia, Hypophosphatemia	OMIM:600740
Orofaciodigital Syndrome Type 4	Joint dislocation, Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate...	ORPHA:2753
Gm1 Gangliosidosis Type 1	Spatulate ribs, Gingival overgrowth, Pectus carinatum, Hypoplastic vertebral bodies, Hepatospleno...	ORPHA:79255
Trisomy 18	Congenital diaphragmatic hernia, Hernia, Bilateral single transverse palmar creases, Microretrogn...	ORPHA:3380
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Alagille Syndrome 1	Hypoplasia of the ulna, Hypertriglyceridemia, Long nose, Abnormal rib morphology, Hemivertebrae, ...	OMIM:118450
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
Aicardi-Goutieres Syndrome 5	Arthropathy, Flexion contracture, Thrombocytopenia	OMIM:612952
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Micrognathia, Short neck, High, narrow palate, Abnormal sternum...	OMIM:163950
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Elevated transferrin saturation, Osteoarthritis, An...	OMIM:606069
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Micrognathia, Missing ribs, Cryptorchidism, Abnormal rib morpholog...	ORPHA:3301
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Inguinal hernia, Sacral dimple, Tapered toe, Sparse eyelashes, Tapered finger, La...	ORPHA:544488
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly...	ORPHA:100026
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia	OMIM:612287
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Recurrent fractures, Micromelia, Cryptorchidism, Abnormal rib morphology, Joint hyperflexibility,...	ORPHA:2772
Amelogenesis Imperfecta	Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ...	ORPHA:88661
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Cachexia, Hypersplenism, Vacuolated l...	ORPHA:275761
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Proximal placement of thumb, Missing ribs, Cleft u...	OMIM:304050
Mucopolysaccharidosis Type 7	Inguinal hernia, Anterior beaking of lower thoracic vertebrae, Joint stiffness, Metatarsus adduct...	ORPHA:584
7Q31 Microdeletion Syndrome	Epicanthus, Telecanthus, Hypoplasia of the maxilla, Clinodactyly of the 2nd finger, Wide mouth, S...	ORPHA:251061
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal...	ORPHA:540
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the d...	ORPHA:2907
Cdags Syndrome	Ectropion, Sparse eyelashes, Sagittal craniosynostosis, Sparse eyebrow, Kyphosis, Cleft palate, S...	OMIM:603116
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Abnormality of the dentition, Osteoporosis, Palmoplantar hyperkera...	OMIM:613989
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Osteo...	ORPHA:143
Immunodeficiency 10	Autoimmune hemolytic anemia, Lymphadenopathy, Thrombocytopenia, Amelogenesis imperfecta	OMIM:612783
Congenital Analbuminemia	Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Pedal edema, Increased alpha-g...	ORPHA:86816
Congenital Enterovirus Infection	Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hyperammonemia, Leukopenia, Hypoa...	ORPHA:292
Fanconi Anemia, Complementation Group D2	Pancytopenia, Small for gestational age, Absent thumb, Absent radius, Preaxial hand polydactyly, ...	OMIM:227646
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, R...	OMIM:150550
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, Autoimmune thro...	OMIM:603909
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, Polyarticular arthritis, B lymphocytopenia, Recurrent si...	OMIM:619281
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen...	OMIM:185070
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia	OMIM:612286
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Short humerus, Short femur, Flexion contracture, Growth delay, Polydactyly	ORPHA:17
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Inguinal hernia, Abnormal size of the palpebral fissures, Camptodactyly of...	ORPHA:1101
Hydrolethalus Syndrome 1	Accessory spleen, Omphalocele, Median cleft lip, Micrognathia, Preaxial hand polydactyly, Postaxi...	OMIM:236680
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Ataxia, Abnormal dense granules, Thrombocytopenia, Spl...	OMIM:214500
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Dengue Fever	Leukopenia, Hypoproteinemia, Gingival bleeding, Thrombocytopenia	ORPHA:99828
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Ectropion of lower ey...	OMIM:615873
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Arthritis, Lymphopenia, Eosinophilia, Limitation of joint mobility	ORPHA:2582
Transaldolase Deficiency	Pancytopenia, Small for gestational age, Short neck, Splenomegaly, Deep philtrum, Synophrys, Hepa...	OMIM:606003
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Thrombocytopenia	ORPHA:67048
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius, Mi...	ORPHA:1765
Fetal Akinesia Deformation Sequence 1	Elbow contracture, Micrognathia, Short neck, High, narrow palate, Congenital contracture, High pa...	OMIM:208150
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa...	OMIM:617604
Rapidly Involuting Congenital Hemangioma	Lipoatrophy, Thrombocytopenia	ORPHA:141184
Distal Renal Tubular Acidosis	Hemolytic anemia, Short stature, Osteomalacia, Rickets, Increased susceptibility to fractures, Re...	ORPHA:18
Orotic Aciduria	Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi...	OMIM:258900
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Deep philtrum, Everted lower lip vermilion, Long philtrum, Short no...	OMIM:137550
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Abnormal dental enamel ...	ORPHA:464
Aceruloplasminemia	Ataxia, Decreased serum iron, Increased circulating ferritin concentration, Aceruloplasminemia, B...	OMIM:604290
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop...	ORPHA:35858
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Increased circulating ferritin concentration, Bone marrow hypocellularity, Thrombocytopenia, Hepa...	ORPHA:210136
Fanconi Anemia, Complementation Group B	Aplastic anemia, Short neck, Absent thumb, Bilateral radial aplasia, Abnormal vertebral morpholog...	OMIM:300514
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Abnormality of dental color, Recurrent fractures, Kyphoscoliosis, Abnormal toe morpho...	OMIM:163200
Trichohepatoenteric Syndrome 1	Small for gestational age, Increased mean platelet volume, Avascular necrosis of the capital femo...	OMIM:222470
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving ...	ORPHA:464321
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Osteo...	ORPHA:99880
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:151660
Ulbright-Hodes Syndrome	Micrognathia, Short neck, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Short metacarpa...	ORPHA:3404
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hem...	OMIM:301078
Snakebite Envenomation	Hyponatremia, Hypopituitarism, Gingival bleeding, Thrombocytopenia	ORPHA:449285
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Osteoporosis, Rickets, Growth delay, Iron deficiency anemia	ORPHA:309031
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Pancytopenia, Short stature, Rickets, Reduced bone mineral density, Gro...	OMIM:613658
Bone Marrow Failure Syndrome 6	Osteopenia, Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean co...	OMIM:618849
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Anemia of inadequate production, Carious teeth, Splenomegaly, Steatorrhea, Calvarial ...	OMIM:612714
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Osteopenia, Short femur, Hypertriglyceridemia, Camptodactyly of finger, ...	ORPHA:3455
Hepatoportal Sclerosis	Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, A...	ORPHA:64743
Sengers Syndrome	Osteopenia, Thrombocytopenia	OMIM:212350
Colchicine Poisoning	Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo...	ORPHA:31824
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Lymphadenopat...	ORPHA:3226
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bilateral single transverse palmar creases, Proximal placement of thumb, Congenital diaphragmatic...	ORPHA:1120
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Coxa vara, High palate, Microdontia, Microretrognathia, S...	OMIM:278250
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr...	OMIM:615234
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Mosaic Trisomy 9	Rocker bottom foot, Micromelia, Micrognathia, Camptodactyly of finger, Asplenia, Elbow dislocatio...	ORPHA:99776
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Aicardi-Goutieres Syndrome 4	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly	OMIM:610333
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Oligodontia, Shallow orbits, Clinodactyly of the 5th finger, Pro...	ORPHA:1272
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Abnormal paranasal sinus morphology, Lymphopenia, Hypoproteinemia	OMIM:207731
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Large for gestational age, Cryptorchidism, Abnormality o...	ORPHA:169189
Mucopolysaccharidosis, Type Iiic	Thickened ribs, Kyphoscoliosis, Joint stiffness, Splenomegaly, Synophrys, Ovoid thoracolumbar ver...	OMIM:252930
Bardet-Biedl Syndrome 20	Hypercholesterolemia, Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly...	OMIM:619471
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Ptosis, Epicanthus, Sparse eyelashes, Camptodactyly of finger, Hypoplasia of...	ORPHA:306542
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Scapular winging, Lacrimal duct stenosis, Down-sloping shoulders, Tapered fing...	OMIM:615560
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ...	ORPHA:3472
Angelman Syndrome	Mandibular prognathia, Broad-based gait, Ataxia, Protruding tongue, Hypoplasia of the maxilla, Ob...	OMIM:105830
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Gingival overgrowth, Weight loss, Anemia, Leukopenia, Lymphadenopathy...	ORPHA:520
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Ataxia, Micrognathia, Kyphosis, Dysmetria, Knee flexion contracture, Bilateral talipes equinovaru...	OMIM:619708
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob...	ORPHA:247353
Trichothiodystrophy 3, Photosensitive	Natal tooth, Lymphopenia, Carious teeth, Bilateral cryptorchidism, Neutropenia, Eclabion, Failure...	OMIM:616395
Prune Belly Syndrome	Congenital hip dislocation, Pectus excavatum, Cryptorchidism, Abnormal rib morphology, Vertebral ...	ORPHA:2970
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosis, Splenomegal...	ORPHA:824
Pseudo-Torch Syndrome 1	Microretrognathia, Splenomegaly, Cleft lip, High palate, Long philtrum, Umbilical hernia, Failure...	OMIM:251290
Fryns Syndrome	Tented upper lip vermilion, Ectopic pancreatic tissue, Single transverse palmar crease, Proximal ...	OMIM:229850
Juvenile Polyposis Of Infancy	Refractory anemia, Subcutaneous lipoma, Cachexia, High, narrow palate, Clubbing of fingers, Midcl...	ORPHA:79076
Diffuse Alveolar Hemorrhage	Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Thrombocytopenia	ORPHA:90060
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con...	OMIM:606895
Bernard-Soulier Syndrome	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Gingival bleeding, Impaired ristocetin-...	OMIM:231200
Cowden Syndrome 5	Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Kyphosis, Palmoplantar hyperkeratosis,...	OMIM:615108
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Abnormal long bone mor...	ORPHA:411634
Intellectual Disability-Short Stature-Hypertelorism Syndrome	Clinodactyly of the 5th finger, Hypoplasia of the zygomatic bone, Long philtrum	ORPHA:3074
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Lymphadenopathy, Anemia, Arthritis, Coombs-positive he...	OMIM:304790
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Ataxia, Thiamine-responsive megaloblastic anemia, Cryptorchidism, Thrombocy...	OMIM:249270
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Leukop...	ORPHA:1304
Duane-Radial Ray Syndrome	Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Spina bifida occulta, Upper limb...	OMIM:607323
Sapho Syndrome	Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Craniofacial osteoscler...	ORPHA:793
Acro-Renal-Ocular Syndrome	Vertebral segmentation defect, Triphalangeal thumb, Hypoplasia of the ulna, Finger syndactyly, Br...	ORPHA:959
Oslam Syndrome	Clinodactyly, Radioulnar synostosis, Anemia, Radial deviation of finger	OMIM:165660
Restrictive Dermopathy 2	Microretrognathia, Hypoplastic facial bones, Short clavicles, Overtubulated long bones	OMIM:619793
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Epicanthus, Abnormal distal phalanx morphology of finger, Hypoplasia of th...	ORPHA:2673
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Kagami-Ogata Syndrome	Omphalocele, Pursed lips, Inguinal hernia, Kyphoscoliosis, Coxa valga, Micrognathia, Large for ge...	ORPHA:254519
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, Sinusitis, Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopen...	ORPHA:277
Adult-Onset Still Disease	Neutrophilia, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,...	ORPHA:829
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Bilateral cryptorchidism, Knee...	OMIM:617402
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutrope...	OMIM:251110
Floating-Harbor Syndrome	Short neck, Short middle phalanx of the 2nd finger, Downturned corners of mouth, Short philtrum, ...	OMIM:136140
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Ataxia-Telangiectasia	Conjunctival telangiectasia, Failure to thrive, Sinusitis, Ataxia, Elevated circulating alpha-fet...	OMIM:208900
Slc35A1-Cdg	Giant platelets, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia	ORPHA:238459
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Inguinal hernia, Telecanthus, Hypoplasia of the maxilla, Cryptorchidism, W...	OMIM:601499
Crouzon Syndrome	Mandibular prognathia, Dental crowding, Sagittal craniosynostosis, Hypoplasia of the maxilla, Hig...	OMIM:123500
Psoriasis 14, Pustular	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Oligoarthritis...	OMIM:614204
Distal Deletion 19P	Long toe, Vaginal hernia, Arachnodactyly, Hypoplasia of the maxilla, Cleft palate, Keloids, Joint...	ORPHA:96129
Pseudo-Torch Syndrome 3	Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Congenital thrombocyto...	OMIM:618886
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv...	ORPHA:169154
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Anterior concavity of thoracic verte...	OMIM:216340
Ayme-Gripp Syndrome	Mandibular prognathia, Tapered finger, Wide nasal bridge, Narrow mouth, Craniofacial asymmetry, S...	OMIM:601088
Cowden Syndrome 6	Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Kyphosis, Palmoplantar hyperkeratosis,...	OMIM:615109
Zika Virus Disease	Ankle swelling, Wrist swelling, Arthritis, Conjunctivitis, Thrombocytopenia	ORPHA:448237
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Ataxia, Dysmetria, Athetosis, Long philtrum, Thrombocytopenia	OMIM:617710
Cerebrofaciothoracic Dysplasia	Epicanthus, Thick eyebrow, Cleft upper lip, Short neck, Synophrys, Rib fusion, Hemivertebrae, Cle...	ORPHA:1394
Thyrocerebroretinal Syndrome	Ataxia, Thrombocytopenia, Goiter	OMIM:274240
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Conical tooth, Micrognathia, Supernumerary tooth, Synophrys, Wide nasal bridge, Widely spaced tee...	ORPHA:90024
Ulnar-Mammary Syndrome	Deformed radius, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Aplasia of the 3rd m...	OMIM:181450
Primary Hyperoxaluria	Generalized osteosclerosis, Hyperoxaluria, Recurrent fractures	ORPHA:416
Reni Syndrome	Hypertriglyceridemia, Ataxia, Cryptorchidism, Hypoalbuminemia, Lymphopenia, Ptosis	OMIM:617575
Wilson Disease	Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, ...	OMIM:277900
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Inguinal hernia, Transient neutropenia, Epicanthus, Chronic neutropenia, Large for gestational ag...	ORPHA:500095
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Pelvis-Shoulder Dysplasia	Back pain, Congenital hip dislocation, Hypoplastic scapulae, Lumbar hyperlordosis, Hypoplastic il...	OMIM:169550
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Failure to thrive in infancy, Lipodystrophy, Elevated circulating C-reactive protei...	OMIM:617099
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Pes planus, Joint laxity, Congenital hip dislocation, Arachnodactyly, Protrusio aceta...	OMIM:225400
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Splenomegaly, Lymphadenopathy, Hypocalcification of dental enamel, Thrombocytop...	ORPHA:169090
Carpenter Syndrome 2	Single transverse palmar crease, Short neck, Bilateral cryptorchidism, High, narrow palate, Ectro...	OMIM:614976
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ...	OMIM:618986
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:613839
Infantile Nephropathic Cystinosis	Rickets, Abnormal blood ion concentration, Growth delay, Hypokalemia, Hypophosphatemia	ORPHA:411629
Lacrimoauriculodentodigital Syndrome 2	Absent lacrimal punctum, Duplication of thumb phalanx, Conical tooth, Carious teeth, Abnormal thu...	OMIM:620192
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Mucopolysaccharidosis, Type Iiia	Inguinal hernia, Thickened ribs, Joint stiffness, Splenomegaly, Synophrys, Ovoid thoracolumbar ve...	OMIM:252900
Icf Syndrome	Epicanthus, Abnormality of neutrophils, Protruding tongue, Micrognathia, Macroglossia, Umbilical ...	ORPHA:2268
Trochlea Of The Humerus, Aplasia Of	Short humerus, Cleft palate	OMIM:191000
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci...	OMIM:207750
Wiskott-Aldrich Syndrome	Hemolytic anemia, Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia,...	ORPHA:906
Aceruloplasminemia	Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe...	ORPHA:48818
Lysinuric Protein Intolerance	Hypolysinemia, Recurrent fractures, Increased circulating ferritin concentration, Thrombocytopeni...	OMIM:222700
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Aplasia/Hypoplasia of the phalanges of the thumb, Small for gestational age, ...	ORPHA:556955
Necrotizing Enterocolitis	Hyponatremia, Small for gestational age, Leukocytosis, Neutropenia, Thrombocytopenia	ORPHA:391673
Systemic Lupus Erythematosus	Hemolytic anemia, Thrombocytopenia, Leukopenia, Arthritis	OMIM:152700
Restrictive Dermopathy 1	Micrognathia, Flexion contracture, Overtubulated long bones, Absent eyelashes, Ankylosis, Sparse ...	OMIM:275210
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Micrognathia, Synophrys, Downturned corner...	ORPHA:444077
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Ataxia, Palpebral edema, Elevated circulating C-reactive protein con...	ORPHA:50918
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Ataxia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukoc...	OMIM:615688
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Vici Syndrome	Ptosis, Failure to thrive, Median cleft lip, Everted upper lip vermilion, Elevated circulating cr...	OMIM:242840
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Pancreatic fibrosis, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydacty...	OMIM:615503
Vertebral Hypersegmentation And Orofacial Anomalies	Pes planus, Scapular winging, Inguinal hernia, Epicanthus, Supernumerary nipple, Micrognathia, Pe...	OMIM:619122
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Gout, Increased LDL chole...	ORPHA:412
Cranioectodermal Dysplasia 3	Joint laxity, Telecanthus, Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe s...	OMIM:614099
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ...	OMIM:614172
8P11.2 Deletion Syndrome	Hemolytic anemia, Epicanthus, Sacral dimple, Micrognathia, Splenomegaly, Cryptorchidism, Spherocy...	ORPHA:251066
Skin Creases, Congenital Symmetric Circumferential, 2	Micrognathia, Short neck, Synophrys, Short palm, Clinodactyly of the 5th finger, Microdontia, Tap...	OMIM:616734
Cholestasis, Progressive Familial Intrahepatic, 8	Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia, Bile duct pr...	OMIM:619662
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi...	OMIM:605814
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Neutrophilia, Swelling of proximal interphalangeal joints, Ankle swelling, Eosinop...	ORPHA:3260
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen...	ORPHA:300298
Enlarged Parietal Foramina	Craniosynostosis, Cleft lip, Cleft palate, Short clavicles, Broad thumb	ORPHA:60015
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Failure ...	ORPHA:331206
Noonan Syndrome	Ptosis, Micrognathia, Pectus excavatum, Abnormality of the spleen, Cryptorchidism, Thick lower li...	ORPHA:648
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi...	OMIM:277300
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Hyperammonemia, Decreased circulating carnitine...	ORPHA:99901
Primary Fanconi Renotubular Syndrome	Hypouricemia, Osteomalacia, Bicarbonaturia, Increased susceptibility to fractures, Hypophosphatem...	ORPHA:3337
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration...	ORPHA:54251
Gm1-Gangliosidosis, Type I	Inguinal hernia, Thickened ribs, Joint stiffness, Short neck, Splenomegaly, Kyphosis, Vacuolated ...	OMIM:230500
Isovaleric Acidemia	Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:243500
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutrope...	OMIM:251100
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Short neck, Abnormal rib morphology, Obesity, Hemivertebrae, Abnormal form of ...	ORPHA:2234
Castleman Disease	Myelofibrosis, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration...	ORPHA:160
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Short stature, Recurrent fractures, Metaphyseal widening, Osteoporosis, Increased sus...	OMIM:259770
Marden-Walker Syndrome	Micrognathia, Abnormal form of the vertebral bodies, Pectus carinatum, Bifid uvula, Arachnodactyl...	ORPHA:2461
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Decreased body weight	ORPHA:93945
Pediatric-Onset Graves Disease	Craniosynostosis, Abnormal eyelid morphology, Splenomegaly, Neutropenia in presence of anti-neutr...	ORPHA:525731
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Decreased testicular size, Pancytopenia, Ataxia, Sparse eyelashes, Cariou...	OMIM:305000
Acquired Purpura Fulminans	Thrombocytopenia, Elevated circulating C-reactive protein concentration	ORPHA:49566
Vexas Syndrome	Thrombocytopenia, Macrocytic anemia, Elevated circulating C-reactive protein concentration, Arthr...	OMIM:301054
Vacterl/Vater Association	Omphalocele, Finger syndactyly, Abnormal intervertebral disk morphology, Congenital diaphragmatic...	ORPHA:887
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Ataxia, Autoimmune thrombocytopenia, Abnormal T cell m...	ORPHA:760
Sea-Blue Histiocytosis	Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thrombocytopenia	ORPHA:158029
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi...	ORPHA:740
Immunodeficiency, Common Variable, 12, With Autoimmunity	Thrombocytopenia, Autoimmune hemolytic anemia, Recurrent sinusitis	OMIM:616576
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Ataxia, Anemia, Bone marrow hypocellularity, Failure to thrive, Or...	ORPHA:3322
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Cleft upper lip, Micrognathia, Abnormal rib morphology, Cleft palate, Abnormality of the vertebra...	OMIM:601076
Sepsis In Premature Infants	Small for gestational age, Elevated circulating C-reactive protein concentration, Thrombocytopeni...	ORPHA:90051
Cockayne Syndrome A	Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplas...	OMIM:216400
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Shigellosis	Hyponatremia, Failure to thrive in infancy, Abscess, Leukocytosis, Abnormal blood ion concentrati...	ORPHA:810
Digeorge Syndrome	Micrognathia, High, narrow palate, Parathyroid hypoplasia, Hypoplasia of the thymus, Hypocalcemia...	OMIM:188400
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Tapered finger	OMIM:618367
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Hemivertebrae, Downturned corners of mouth, Short philtrum, Bifid uvul...	ORPHA:500150
Isolated Cleft Lip	Small for gestational age, Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-mi...	ORPHA:199302
Caudal Regression Syndrome	Missing ribs, Joint stiffness, Cryptorchidism, Abnormal iliac wing morphology, Aplasia/Hypoplasia...	ORPHA:3027
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Small for gestational age, Elevated circulating creatine kinase concentration, Normochromic anemi...	OMIM:618775
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Sting-Associated Vasculopathy, Infantile-Onset	Failure to thrive, Elevated circulating C-reactive protein concentration, Joint stiffness, Follic...	OMIM:615934
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating cortisol level, Hemivertebrae, Femoral bowing, Decreased circulating renin ...	OMIM:201750
Ablepharon Macrostomia Syndrome	Omphalocele, Absent eyebrow, Ablepharon, Toe syndactyly, Camptodactyly of finger, Hypoplasia of t...	ORPHA:920
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Oral ulcer, Gingivitis, An...	OMIM:308230
Mucopolysaccharidosis Type 2, Severe Form	Inguinal hernia, Thickened ribs, Abnormal dental morphology, Camptodactyly of finger, Splenomegal...	ORPHA:217085
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	OMIM:606721
Thiamine-Responsive Megaloblastic Anemia Syndrome	Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening, Coronal cranios...	OMIM:241310
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges...	ORPHA:420794
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia	ORPHA:398124
Boutonneuse Fever	Abnormal skin morphology of the palm, Cervical lymphadenopathy, Lymphadenopathy, Abnormality of t...	ORPHA:83313
Pallister-Hall Syndrome	Large for gestational age, Gonadotropin deficiency, Hemivertebrae, Bifid uvula, Microretrognathia...	ORPHA:672
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth hormone stimulati...	OMIM:604292
Mucopolysaccharidosis Type 2, Attenuated Form	Inguinal hernia, Thickened ribs, Abnormal dental morphology, Camptodactyly of finger, Splenomegal...	ORPHA:217093
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi...	OMIM:238600
Lacrimoauriculodentodigital Syndrome	Micrognathia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnormal digit mo...	ORPHA:2363
Lacrimoauriculodentodigital Syndrome 3	Absent lacrimal punctum, Epicanthus, Carious teeth, Short thumb, Partial duplication of thumb pha...	OMIM:620193
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Knee dislocation, Hypoa...	OMIM:619534
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Recurrent aphthous stomatitis, Neutropenia, Monocytopenia...	ORPHA:2688
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Premature loss of permanent teeth, Hypertriglyceridemia, Palmoplantar keratoderma, Palmoplantar h...	OMIM:610644
Craniofacial-Deafness-Hand Syndrome	Telecanthus, Ulnar deviation of the hand, Hypoplasia of the maxilla, Malar flattening, Short nose...	OMIM:122880
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis	OMIM:231100
Cockayne Syndrome B	Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplas...	OMIM:133540
Pediatric Systemic Lupus Erythematosus	Oral ulcer, Lymphadenopathy, Leukopenia, Arthritis, Microangiopathic hemolytic anemia, Lymphopeni...	ORPHA:93552
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Decreased mean p...	OMIM:617718
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Proximal ...	ORPHA:1896
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Abnormal circulating fatty-acid concentration, Enlarged polycystic ovaries, Ost...	ORPHA:2298
Tufted Angioma	Anemia, Hemangioma of the lip, Thrombocytopenia	ORPHA:1063
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Recurrent sinusitis, Decreased proportion of C...	OMIM:615518
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Lower limb dysmetria, Micrognathia, Abnormal tibia morphology, High palate, Abnormal d...	ORPHA:363700
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth hormone stimulati...	OMIM:129900
Low Phospholipid-Associated Cholelithiasis	Liver abscess, Overweight, Obesity, Hypercholesterolemia, Cholelithiasis	ORPHA:69663
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Dermatog...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Dermatog...	ORPHA:99228
Monosomy X	Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Dermatog...	ORPHA:99226
Turner Syndrome	Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Dermatog...	ORPHA:881
Herpes Simplex Virus Encephalitis	Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:1930
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Smooth philtrum, Megaloblastic anemia, Hyperhomocystin...	OMIM:277400
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Hypocalcemic seizures	ORPHA:405
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma	OMIM:603776
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Congenital diaphragmatic hernia, Pectus carinatum, Vertebral segmentation ...	OMIM:312870
X-Linked Mandibulofacial Dysostosis	Epicanthus, Micrognathia, Pectus excavatum, Cryptorchidism, High palate, Hypoplasia of the zygoma...	ORPHA:1131
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reacti...	OMIM:619381
Roberts-Sc Phocomelia Syndrome	Micrognathia, Short neck, Tetraphocomelia, Knee flexion contracture, Eyelid coloboma, High palate...	OMIM:268300
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Smooth philtrum, Ataxia, Megaloblastic anemia, Hyperam...	ORPHA:79282
Wars2-Related Combined Oxidative Phosphorylation Defect	Thin upper lip vermilion, Ataxia, Positional foot deformity, Wide nasal bridge, Dysmetria, Atheto...	ORPHA:572798
Primary Intestinal Lymphangiectasia	Weight loss, Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, H...	ORPHA:90362
Marburg Hemorrhagic Fever	Back pain, Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hype...	ORPHA:99826
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Broad-based gait, Pancytopenia, Cachexia, Pectus excavatum, Abnormality of the spl...	ORPHA:2072
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Downturned corners of mouth, B...	OMIM:620186
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:1302
Axenfeld-Rieger Syndrome	Telecanthus, Hypoplasia of the maxilla, Wide nasal bridge, Everted lower lip vermilion, Hypodonti...	ORPHA:782
Mucopolysaccharidosis, Type Iiib	Thickened ribs, Joint stiffness, Splenomegaly, Synophrys, Ovoid thoracolumbar vertebrae, Dense ca...	OMIM:252920
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Cardiospondylocarpofacial Syndrome	Congenital diaphragmatic hernia, Pseudoepiphyses, Joint laxity, Rib fusion, Wide nasal bridge, Co...	OMIM:157800
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, Failure to thrive, Glossitis, Thromb...	ORPHA:90045
1P36 Deletion Syndrome	Abnormality of the spleen, Clinodactyly of the 5th finger, Cryptorchidism, Rib fusion, Wide nasal...	ORPHA:1606
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Gingival bleeding, Bone marrow hypocellularity, Neutrope...	ORPHA:88
Proteus Syndrome	Abnormal finger morphology, Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger...	ORPHA:744
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Epicanthus, Supernumerary nipple, Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morpho...	ORPHA:2519
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma	OMIM:144010
Macrocephaly/Autism Syndrome	Joint laxity, Epicanthus, Large for gestational age, Splenomegaly, Obesity, Hydrocele testis, Hig...	OMIM:605309
Combined Oxidative Phosphorylation Deficiency 14	Thrombocytopenia, Anemia, Elevated hepatic iron concentration	OMIM:614946
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Craniosynostosis, Palmoplantar cutis gyrata, Cryptorchidism, Narrow palate, Cleft palate, Tooth a...	ORPHA:1555
Treacher Collins Syndrome 3	Micrognathia, Lower eyelid coloboma, Cleft palate, Hypoplasia of the zygomatic bone, Malar flatte...	OMIM:248390
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for gestational age, Pancreatic fibr...	OMIM:557000
Restrictive Dermopathy	Osteopenia, Multiple joint contractures, Micrognathia, Structural foot deformity, Decreased skull...	ORPHA:1662
Microphthalmia, Syndromic 1	Dental crowding, Abnormal palmar dermatoglyphics, High, narrow palate, Orofacial cleft, High pala...	OMIM:309800
Charge Syndrome	Abnormal tibia morphology, Hemivertebrae, Eyelid coloboma, Abnormality of bone mineral density, C...	ORPHA:138
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Aplastic clavicle, Hiatus hernia, Abnormality of the humerus, ...	ORPHA:2538
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Steppage gait, Increased total iron binding capacity, Unconjugated hyperbiliru...	OMIM:613280
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612926
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Pectus excavatum, Malar flattening, Short nose, Hypoplasia of the zygomatic bone	ORPHA:2835
Kabuki Syndrome 1	Joint dislocation, Congenital hip dislocation, Micrognathia, High palate, Prominent fingertip pad...	OMIM:147920
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Unsteady gait, Gait ataxia, Normochromic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:254900
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Ataxia, Palpebral edema, Unsteady gait, Thick lower lip vermilion, Mesiodens, Dysmetria, Nonprogr...	ORPHA:314647
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Joint laxity, Broad-based gait, Decreased serum iron, Almond-shaped palpebral fissure...	ORPHA:438213
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Abno...	ORPHA:2975
Coccidioidomycosis	Osteomyelitis, Abscess, Eosinophilia, Abnormality of the spleen, Mediastinal lymphadenopathy, Ost...	ORPHA:228123
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Focal Dermal Hypoplasia	Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata, Short metatarsa...	OMIM:305600
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane...	OMIM:243150
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia, Hyperbilirub...	OMIM:251880
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, M...	OMIM:614437
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia...	OMIM:619573
Stt3B-Cdg	Cryptorchidism, Failure to thrive, Thrombocytopenia	ORPHA:370924
Congenital Disorder Of Glycosylation, Type Ix	Cryptorchidism, Failure to thrive, Thrombocytopenia	OMIM:615597
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Osteopenia, Single transverse palmar crease, Micrognathia, Bilateral crypt...	OMIM:150230
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Autoimmune thr...	ORPHA:77293
Steinert Myotonic Dystrophy	Tented upper lip vermilion, Decreased response to growth hormone stimulation test, Cholelithiasis...	ORPHA:273
Immunodeficiency 23	Hemolytic anemia, Failure to thrive, Ataxia, Abscess, Eosinophilia, High palate, Scoliosis, Neutr...	OMIM:615816
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Obesity, Increased LDL cholesterol concentration, Cholesterol gallstones, H...	ORPHA:209902
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Abno...	ORPHA:3243
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Severe Congenital Nemaline Myopathy	Increased connective tissue, Multiple prenatal fractures, Abnormal thorax morphology, Flexion con...	ORPHA:171430
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Conical incisor, Radial deviation of the 3rd finge...	OMIM:149730
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Tooth Agenesis, Selective, 3	Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia	OMIM:604625
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Cryptorchidism, Anemia, Lymphopenia, Thrombocytopenia	OMIM:620365
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Splenomegaly, Dysdiadochokinesis, Gait disturbance...	ORPHA:309854
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Absence of lymph node germ...	ORPHA:79124
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Abnormal eyelid morphology, Short neck, ...	ORPHA:647
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ...	OMIM:274150
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc...	OMIM:619846
Legionnaires Disease	Hyponatremia, Ataxia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Cellulitis, Lym...	ORPHA:549
Lujo Hemorrhagic Fever	Stiff neck, Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, Lymp...	ORPHA:319213
Isotretinoin-Like Syndrome	Inguinal hernia, Micrognathia, Cleft palate, Upslanted palpebral fissure, Hypocalcemia, Lymphopenia	ORPHA:2306
Thrombocytopenia, Anemia, And Myelofibrosis	Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia	OMIM:617441
Branchiooculofacial Syndrome	Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Short neck, Clinodact...	OMIM:113620
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver...	OMIM:184400
Spastic Paraplegia 9A, Autosomal Dominant	Hiatus hernia, Spastic gait, Gait ataxia, Abnormal pelvic girdle bone morphology, Gait disturbanc...	OMIM:601162
Tick-Borne Encephalitis	Back pain, Stiff neck, Elevated circulating C-reactive protein concentration, Leukocytosis, Leuko...	ORPHA:297
Ablepharon-Macrostomia Syndrome	Ventral hernia, Omphalocele, Short metacarpal, Toe syndactyly, Absent eyebrow, Hypoplasia of eyel...	OMIM:200110
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Hand polydactyly, Abnor...	OMIM:314390
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Erosion of oral mucosa, Foot joint contracture, Oral mucosal blisters, Carious teeth,...	ORPHA:79408
Letterer-Siwe Disease	Hepatosplenomegaly, Anemia, Neutropenia, Stomatitis, Thrombocytopenia	OMIM:246400
Septopreoptic Holoprosencephaly	Anterior hypopituitarism, Abnormal rib morphology, Abnormal vertebral morphology	ORPHA:280195
Gardner Syndrome	Neoplasm of the pancreas, Abnormality of the dentition, Supernumerary tooth, Odontoma, Multiple u...	ORPHA:79665
Liver Disease, Severe Congenital	Micrognathia, Biliary hyperplasia, Leukopenia, Hypocalcemia, Lymphocytosis, Elevated hepatic iron...	OMIM:619991
Good Syndrome	Abnormal leukocyte morphology, Sinusitis, Mediastinal lymphadenopathy, Anemia, Thrombocytopenia, ...	ORPHA:169105
Spondylocostal Dysostosis 2, Autosomal Recessive	Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect	OMIM:608681
Myh9-Related Disease	Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Staphylococcal Necrotizing Pneumonia	Leukopenia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:36238
Japanese Encephalitis	Hyponatremia, Neutrophilia, Genu recurvatum, Stiff neck, Elbow flexion contracture, Choreoathetos...	ORPHA:79139
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Missing ribs, Pectus exc...	OMIM:613686
Immunodeficiency 85 And Autoimmunity	Failure to thrive in infancy, Oligoarthritis, T lymphocytopenia, Decreased proportion of CD4-posi...	OMIM:619510
Bleeding Disorder, Platelet-Type, 17	Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules...	OMIM:187900
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc...	ORPHA:90038
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Everted upper lip vermilion, Absent nipple, Sparse eyelashes, Abnormal oral mucos...	OMIM:305100
Tangier Disease	Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Hypochol...	ORPHA:31150
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Parietal Foramina With Cleidocranial Dysplasia	Short clavicles, Widely patent fontanelles and sutures	OMIM:168550
Familial Adenomatous Polyposis 1	Carious teeth, Supernumerary tooth, Eruption failure, Multiple lipomas, Odontoma, Keloids	OMIM:175100
Immune Thrombocytopenia	Gingival bleeding, Thrombocytopenia	ORPHA:3002
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal rib morphology, Cachexia, Abnormal form of the vertebral bodies	ORPHA:93941
Sarcoidosis	Hemolytic anemia, Parotitis, Hypercalcemia, Eosinophilia, Scarring, Thrombocytopenia, Increased T...	ORPHA:797
Gaucher Disease, Type Ii	Splenomegaly, Trismus, Anemia, Failure to thrive, Thrombocytopenia	OMIM:230900
Genetic Hyperferritinemia Without Iron Overload	Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe...	ORPHA:254704
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Klippel-Feil Syndrome 1, Autosomal Dominant	Short neck, Abnormal rib morphology, Cleft palate, Scoliosis, Cervical C2/C3 vertebral fusion, Sp...	OMIM:118100
Gray Platelet Syndrome	Myelofibrosis, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules,...	OMIM:139090
Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Abnormality of the dentition, Supernumerary tooth, Pituitary adenoma, ...	ORPHA:733
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Hypertriglyceridemia, Lipoatrophy, Absent eyelashes, Hypercholesterolemia	ORPHA:363618
Lethal Congenital Contracture Syndrome 5	Small for gestational age, Elevated circulating creatine kinase concentration, Flexion contractur...	OMIM:615368
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia of the maxilla, T...	ORPHA:238468
Aicardi-Goutieres Syndrome 1	Splenomegaly, Inability to walk, Thrombocytopenia	OMIM:225750
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies, Abnormality of the cervical spine	OMIM:307500
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Cryptorchidism, Thin ribs, High palate, Retrognathia, Joint hypermobility	ORPHA:456328
Syndromic Diarrhea	Inguinal hernia, Small for gestational age, Increased mean platelet volume, Splenomegaly, Wide na...	ORPHA:84064
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Bone marrow hypocellularity, Testicular atrophy, Oral leukoplakia, Thrombocytopenia	OMIM:613987
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly...	OMIM:602450
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Immunodeficiency 22	Abscess, Anemia, Panniculitis, Decreased proportion of CD4-positive helper T cells, Failure to th...	OMIM:615758
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Micromelia, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongu...	OMIM:616546
Dextrocardia	Congenital hip dislocation, Abnormal foot morphology, Abnormality of the spleen, Abnormal rib mor...	ORPHA:1666
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Vertebral segmentation defect, Abnormal rib morphology, Short neck	ORPHA:2578
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g...	OMIM:601399
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	ORPHA:3261
Hardikar Syndrome	Lacrimal duct stenosis, Cleft soft palate, Thoracolumbar scoliosis, Hypersplenism, Splenomegaly, ...	OMIM:301068
Chromosome 1P36 Deletion Syndrome, Distal	Synophrys, Orofacial cleft, High palate, Clinodactyly of the 5th finger, Bifid uvula, Cleft upper...	OMIM:607872
Portal Hypertension, Noncirrhotic, 2	Splenomegaly, Thrombocytopenia	OMIM:619463
Pseudo-Torch Syndrome 2	Thrombocytopenia, Thin ribs	OMIM:617397
Thrombocytopenia 6	Myelofibrosis, Osteoporosis, Thrombocytopenia	OMIM:616937
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Holocarboxylase Synthetase Deficiency	Thrombocytopenia, Hyperammonemia	OMIM:253270
Fusariosis	Brain abscess, Fasciitis, Sinusitis, Lung abscess, Osteomyelitis, Abnormality of the spleen, Cell...	ORPHA:228119
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of ...	ORPHA:391487
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Oral ulcer, Hepatosplen...	OMIM:618935
Caroli Syndrome	Liver abscess, Conjugated hyperbilirubinemia, Hypersplenism, Leukocytosis, Conjunctival icterus, ...	ORPHA:480520
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Increased circulating ferritin conce...	OMIM:615846
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Hypomagnese...	ORPHA:79102
Familial Mediterranean Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Orchitis, Splenomegaly, Leuk...	OMIM:249100
Craniofacial Microsomia 1	Ptosis, Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Partial duplic...	OMIM:164210
Pontine Tegmental Cap Dysplasia	Ataxia, Rib fusion, Hemivertebrae, Dysmetria, Ankle clonus, Scoliosis, Failure to thrive, Ptosis	OMIM:614688
Apc-Related Attenuated Familial Adenomatous Polyposis	Odontoma, Supernumerary tooth, Neoplasm of the pancreas, Lipoma	ORPHA:247806
Myotubular Myopathy With Abnormal Genital Development	Unilateral cryptorchidism, Bilateral cryptorchidism, Thin ribs, High palate, Retrognathia, Joint ...	OMIM:300219
Cleft Velum	Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate	ORPHA:99772
Immunodeficiency 40	T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia	OMIM:616433
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Joint hemorrhage, Thrombocytopenia	OMIM:277480
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Arthriti...	OMIM:616100
Hereditary Fructose Intolerance	Hypermagnesemia, Hyperuricemia, Hypophosphatemia	ORPHA:469
Quebec Platelet Disorder	Joint hemorrhage, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Failure to thrive, Absent circulating B cells	OMIM:619693
Catastrophic Antiphospholipid Syndrome	Arthritis, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:464343
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Congenital hip dislocation, Micrognathia, Cryptorchid...	OMIM:606170
Osteogenesis Imperfecta, Type Xv	Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios...	OMIM:615220
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Brain abscess, Leukocytosis, Hyperkalemia, Hypocalcemia, Septic a...	ORPHA:544482
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Ebola Hemorrhagic Fever	Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319218
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Stiff neck, Elevated circulating creatine kinase concentration, Parot...	ORPHA:99827
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Eunuchoid habitus, Elevated circulating luteinizing hormone level, Hypopla...	ORPHA:3044
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Whim Syndrome	Sinusitis, Severe periodontitis, Lymphadenitis, Cellulitis, Abnormal neutrophil morphology, Limb ...	ORPHA:51636
Toxic Epidermal Necrolysis	Entropion, Weight loss, Anemia, Conjunctivitis, Neutropenia, Thrombocytopenia	ORPHA:537
Treacher Collins Syndrome 2	Microretrognathia, Micrognathia, Lower eyelid coloboma, Cleft palate, Fusion of middle ear ossicl...	OMIM:613717
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Epicanthus, Small for gestational age, High palate, Hypoplasia of the zygomat...	OMIM:618500
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Micrognathia, Hypersplenism, Splenomegaly, Biliary hyperplasia, Pancreatic cysts, H...	ORPHA:731
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision circle level, ...	OMIM:619767
Alport Syndrome 3A, Autosomal Dominant	Azotemia, Hypophosphatemia	OMIM:104200
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Aicardi-Goutières Syndrome	Multiple joint contractures, Lipoatrophy, Neonatal alloimmune thrombocytopenia, Chronic lymphatic...	ORPHA:51
Stevens-Johnson Syndrome	Entropion, Abnormality of neutrophils, Thrombocytopenia, Weight loss, Conjunctivitis, Anemia	ORPHA:36426
Cushing Disease	Adrenal hyperplasia, Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexametha...	ORPHA:96253
Vater/Vacterl Association	Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Abnormal ...	OMIM:192350
Yellow Fever	Low back pain, Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Pa...	ORPHA:99829
Primary Sjögren Syndrome	Normocytic anemia, Parotitis, Polyarticular arthropathy, Lymphadenopathy, Leukopenia, Normochromi...	ORPHA:289390
Hellp Syndrome	Back pain, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Increased body ...	ORPHA:244242
Townes-Brocks Syndrome	Triphalangeal thumb, Limbal dermoid, Clinodactyly of the 5th finger, Abnormal vertebral morpholog...	ORPHA:857
Mitochondrial Complex I Deficiency, Nuclear Type 20	Thrombocytopenia	OMIM:611126
Vascular Ehlers-Danlos Syndrome	Joint dislocation, Congenital hip dislocation, High, narrow palate, Osteoarthritis, Abnormality o...	ORPHA:286
Q Fever	Osteomyelitis, Splenomegaly, Hepatosplenomegaly, Anemia, Weight loss, Lymphadenopathy, Granuloma,...	ORPHA:781
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia	OMIM:614074
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Cheilitis, Lymphadenopathy, Conjunctivitis, Neutropenia	ORPHA:293173
Holoprosencephaly-Postaxial Polydactyly Syndrome	Omphalocele, Talipes, Hypoplasia of the premaxilla, Micrognathia, Cryptorchidism, Postaxial hand ...	ORPHA:2166
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T...	OMIM:242700
Systemic Lupus Erythematosus	Hemolytic anemia, Oral ulcer, Cheilitis, Lymphadenopathy, Abnormal pigmentation of the oral mucos...	ORPHA:536
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Narrow mouth, Decreased body weight, Flexion contracture, Thin ribs	OMIM:614833
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Osteomalacia, Stippled calcification of the shoulder, Abnormal calcifica...	ORPHA:51608
Igg4-Related Dacryoadenitis And Sialadenitis	Palpebral edema, Enlarged lacrimal glands, Weight loss, Enlargement of parotid gland, Lymphadenop...	ORPHA:79078
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Inguinal hernia, Block vertebrae, Missing ribs, Short neck, Rib fusion, Hemiver...	OMIM:271520
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Rift Valley Fever	Back pain, Thrombocytopenia, Gingival bleeding, Anemia	ORPHA:319251
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Failure to thrive	OMIM:229600
Hyper-Igd Syndrome	Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Oral ulcer, Hepatosplenomegaly, Lymphade...	OMIM:260920
Secondary Intestinal Lymphangiectasia	Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypoc...	ORPHA:90363
Blue Rubber Bleb Nevus	Iron deficiency anemia, Pathologic fracture, Thrombocytopenia	OMIM:112200
Pneumocystosis	Weight loss, Abnormal neutrophil count	ORPHA:723
Ulnar Agenesis And Endocardial Fibroelastosis	Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Holoprosencephaly 7	Omphalocele, Bilateral cleft palate, Median cleft lip, Hypoplasia of the premaxilla, Bilateral cl...	OMIM:610828
Reynolds Syndrome	Calcinosis, Splenomegaly, Lip telangiectasia, Palmar telangiectasia, Hyperbilirubinemia, Steatorr...	OMIM:613471
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic adenocarcinoma, Adrenal hyperplasia, Dorsocervical fat pad, Paradoxical increased cort...	ORPHA:99889
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Small for gestational age, Large for gestational age, Coat hanger sign of ribs, Umbi...	ORPHA:254534
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Microphthalmia, Syndromic 3	Vertebral fusion, Anterior pituitary hypoplasia, Missing ribs, Cryptorchidism, Rib fusion, Hemive...	OMIM:206900
Thrombocytopenia 1	Joint hemorrhage, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent throm...	OMIM:313900
Acute Liver Failure	Thrombocytopenia, Ataxia, Hyperammonemia	ORPHA:90062
Leptospirosis	Hyperproteinemia, Conjunctival hyperemia, Thrombocytopenia, Lymphadenopathy	ORPHA:509
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Thrombocytopenia	OMIM:301050
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Axenfeld-Rieger Syndrome, Type 1	Thin upper lip vermilion, Decreased response to growth hormone stimulation test, Hypoplasia of th...	OMIM:180500
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Pagod Syndrome	Omphalocele, Abnormal clavicle morphology, Congenital diaphragmatic hernia, Abnormality of the sp...	ORPHA:991
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia	ORPHA:391665
Holoprosencephaly 2	Aplasia of the premaxilla, Submucous cleft hard palate, Bilateral cleft lip and palate, Scoliosis...	OMIM:157170

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Lrrk1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Lrrk1.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Motor Impairments and Dopaminergic Defects Caused by Loss of Leucine-Rich Repeat Kinase Function in Mice.	The Journal of neuroscience : the official journal of the Society for Neuroscience (May 2022)	Lrrk1^{tm1b(KOMP)Wtsi}	PMC9186805
Age-Dependent Dopaminergic Neurodegeneration and Impairment of the Autophagy-Lysosomal Pathway in LRRK-Deficient Mice.	Neuron (October 2017)	Lrrk1^{tm1a(KOMP)Wtsi} Lrrk1^{tm1b(KOMP)Wtsi}	29056298

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Lrrk1^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Lrrk1^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Lrrk1^{tm43355(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Lrrk1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Lrrk1^{tm1c(KOMP)Wtsi}	Wild type floxed exon (post-Flp)	Mice
Lrrk1^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Lrrk1 MGI:2142227

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Echo

Adult LacZ

X-ray

X-ray

Human diseases caused by Lrrk1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data