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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
abnormal tooth morphology	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	4.03×10^-15
increased red blood cell distribution width	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	6.19×10^-15
increased total body fat amount	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	3.82×10^-05
abnormal zygomatic bone morphology	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.46×10^-12
abnormal eyelid morphology	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	9.23×10^-31
abnormal joint morphology	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.10×10^-05
decreased leukocyte cell number	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.56×10^-05
increased circulating HDL cholesterol level	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.17×10^-06
increased bone mineral content	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
abnormal clavicle morphology	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	2.56×10^-14
abnormal rib morphology	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.54×10^-13
abnormal humerus morphology	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	2.69×10^-14
abnormal snout morphology	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	9.19×10^-07
abnormal vertebrae morphology	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	3.29×10^-05
increased circulating phosphate level	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	4.38×10^-05
increased circulating iron level	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.20×10^-06
decreased lean body mass	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.03×10^-05
decreased eosinophil cell number	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	4.74×10^-07
decreased lymphocyte cell number	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	6.80×10^-15
increased circulating aspartate transaminase level	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	4.80×10^-13
abnormal radius morphology	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	2.48×10^-08
abnormal femur morphology	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	2.53×10^-14
increased circulating creatine kinase level	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	7.62×10^-12
abnormal mandible morphology	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	2.75×10^-14
abnormal gait	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	3.09×10^-08
increased neutrophil cell number	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	6.79×10^-23
thrombocytopenia	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	9.69×10^-17
short tibia	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	3.25×10^-24
increased bone mineral density	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
abnormal fibula morphology	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	2.56×10^-14
decreased circulating alkaline phosphatase level	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	3.44×10^-06
abnormal maxilla morphology	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.27×10^-11
absent teeth	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	6.27×10^-10
abnormal tibia morphology	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	2.56×10^-14
abnormal locomotor behavior	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	5.04×10^-07
abnormal pelvic girdle bone morphology	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	3.99×10^-06
abnormal ulna morphology	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	2.47×10^-07
increased circulating cholesterol level	Lrrk1^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.71×10^-06

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

10 Images

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Echo

M-Mode Images

28 Images

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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 Lateral Orientation

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 (1844 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		Increased bone mineral density, Clavicular sclerosis, Metaphyseal dysplasia, Dense metaphyseal bands	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	Hypoplastic pelvis, Short femur	OMIM:619545
Blount Disease, Infantile	Abnormality of the proximal tibial epiphysis, Genu varum	OMIM:188700
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclerosis of the iliac wing, De...	OMIM:611497
Syndactyly Type 4	Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact...	ORPHA:93405
Rhizomelic Dysplasia, Ain-Naz Type	Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short humerus, Hypoplas...	OMIM:619598
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Eiken Syndrome	Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ...	ORPHA:79106
Osteochondrosis Of The Metatarsal Bone	Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o...	ORPHA:564003
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Epiphyseal stippling, Short humerus, Short femur	OMIM:600121
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly	OMIM:246570
Mueller-Weiss Syndrome	Tibiofibular diastasis, Equinovarus deformity, Tibial torsion, Abnormality of the os naviculare p...	ORPHA:566943
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ...	ORPHA:1986
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis, Metaphyseal dysplasia, Dense metaphyseal bands	OMIM:615198
Ribbing Disease	Diaphyseal sclerosis	OMIM:601477
Sclerosteosis	Craniofacial hyperostosis, Finger syndactyly, Tall stature, Curved distal phalanges of the hand, ...	ORPHA:3152
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral...	OMIM:166740
Tibial Torsion, Bilateral Medial	Bowing of the legs, Tibial torsion	OMIM:188800
Osteopetrosis, Autosomal Dominant 1	Abnormal pelvic girdle bone morphology, Thickened cortex of long bones, Generalized osteosclerosi...	OMIM:607634
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u...	OMIM:118651
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the distal phalanges ...	ORPHA:1879
12q14 microdeletion syndrome	Osteopoikilosis, Proportionate short stature	DECIPHER:76
Buschke-Ollendorff Syndrome	Joint stiffness, Osteopoikilosis, Lower limb asymmetry, Flexion contracture	OMIM:166700
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Acromesomelic Dysplasia 2C	Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S...	OMIM:201250
Osteopetrosis, Autosomal Dominant 2	Hip osteoarthritis, Abnormal pelvic girdle bone morphology, Mandibular osteomyelitis, Bone marrow...	OMIM:166600
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal u...	ORPHA:3416
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn...	ORPHA:1802
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ...	ORPHA:2779
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormal cortical bone morphology, Splenomegaly, Limb undergrowth, Abnormal limb bone morphology,...	ORPHA:2204
Metaphyseal Anadysplasia 2	Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin...	OMIM:613073
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
Tibial Hemimelia	Absent tibia	OMIM:275220
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Abnormal pelvic girdle bone morphology, Abnormal long bone morphology, Short toe, Short finger	OMIM:259270
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val...	OMIM:600785
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv...	ORPHA:166119
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification	Delayed epiphyseal ossification, Broad middle phalanx of finger, Cone-shaped epiphysis, Short 1st...	OMIM:182255
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu...	ORPHA:2790
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o...	ORPHA:2098
Osebold-Remondini Syndrome	Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos...	OMIM:112910
Beukes Hip Dysplasia	Shallow acetabular fossae, Broad femoral neck, Avascular necrosis of the capital femoral epiphysi...	OMIM:142669
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Hip Dysplasia, Beukes Type	Broad femoral neck, Abnormal epiphysis morphology, Abnormality of the epiphysis of the femoral he...	ORPHA:2114
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Osteopetrosis, Abnormal metaphysis morphology	ORPHA:1522
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Ossification Of The Posterior Longitudinal Ligament Of Spine	Increased bone mineral density, Ectopic ossification	OMIM:602475
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla...	OMIM:147891
Acheiropody	Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas...	OMIM:200500
Fibular Hemimelia	Toe syndactyly, Limitation of joint mobility, Structural foot deformity, Finger syndactyly, Short...	ORPHA:93323
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten...	OMIM:605274
Osteopetrosis, Autosomal Recessive 9	Cortical sclerosis, Pathologic fracture, Postnatal growth retardation, Elevated circulating creat...	OMIM:620366
Van Buchem Disease	Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis	OMIM:239100
Langer Mesomelic Dysplasia	Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul...	OMIM:249700
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl...	OMIM:607078
Osteopetrosis, Autosomal Recessive 2	Mandibular osteomyelitis, Cranial hyperostosis, Extramedullary hematopoiesis, Osteomyelitis, Hepa...	OMIM:259710
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P...	ORPHA:3329
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Abnormality of the dentition, Pectus carinatum, Finger syndactyly, Thick eyebrow, Epicanthus, Rad...	ORPHA:3268
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Delayed epiphyseal ossification, Severe short stature, Hip osteoarthritis, ...	OMIM:132400
Chromosome 17Q23.1-Q23.2 Duplication Syndrome	Genu valgum, Acetabular dysplasia, Talipes equinovarus, Hip dysplasia, Coxa valga	OMIM:613618
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Osteopetrosis, Thrombocytopenia, Anemia, Increased bone mineral de...	OMIM:611490
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Limited wrist movement, ...	OMIM:127300
Osteopetrosis, Autosomal Recessive 1	Flared metaphysis, Pathologic fracture, Osteomyelitis, Pancytopenia, Hypocalcemia, Splenomegaly, ...	OMIM:259700
Hypophosphatemic Rickets, X-Linked Dominant	Osteomalacia, Hepatosplenomegaly, Enamel hypomineralization, Genu valgum, Fibular bowing, Hypopho...	OMIM:307800
Metaphyseal Chondrodysplasia, Spahr Type	Disproportionate short stature, Abnormal epiphysis morphology, Reduced bone mineral density, Bowi...	ORPHA:2501
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Carious teeth, Difficulty walking, Fibular bowing, Epicanthus, H...	OMIM:277440
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Monkey wrench femoral neck, Ad...	OMIM:617719
Lethal Faciocardiomelic Dysplasia	Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Fibu...	ORPHA:1972
Pseudohypoparathyroidism, Type Ia	Hyperphosphatemia, Delayed eruption of teeth, Short toe, Short finger, Hypocalcemic tetany, Obesi...	OMIM:103580
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Broad femoral neck, Arthralgia of the hip, Flared femoral metaphysis, Genu ...	OMIM:609324
Gnathodiaphyseal Dysplasia	Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of long bones, R...	ORPHA:53697
Coxopodopatellar Syndrome	Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Aplasia/Hypoplasia of the ...	ORPHA:1509
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Irregular acetabular roof, Metaphyseal dysplasia, Short stature, Reduced bone mineral density, Ge...	OMIM:617974
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Abnormal hip bone m...	ORPHA:970
Congenital Disorder Of Glycosylation, Type Iik	Epiphyseal dysplasia, Failure to thrive, Malar flattening, Elevated circulating creatine kinase c...	OMIM:614727
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Generalized osteosclerosis, ...	ORPHA:1423
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ...	ORPHA:240
Pseudohypoparathyroidism Type 1B	Hyperphosphatemia, Delayed eruption of teeth, Hypocalcemic tetany, Increased bone density with cy...	ORPHA:94089
Weismann-Netter Syndrome	Severe short stature, Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip b...	ORPHA:3344
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Toe clinodactyly, Limitation of joint mobility, Upper limb undergrowth, Pathologic fracture, Abno...	ORPHA:166277
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia...	ORPHA:988
Laurin-Sandrow Syndrome	Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,...	OMIM:135750
Acrodysostosis 1 With Or Without Hormone Resistance	Hyperphosphatemia, Long hallux, Narrow vertebral interpedicular distance, Epicanthus, Calvarial h...	OMIM:101800
Pseudohypoparathyroidism, Type Ic	Hyperphosphatemia, Delayed eruption of teeth, Hypocalcemic tetany, Obesity, Hypocalcemia, Short n...	OMIM:612462
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Upper limb undergrowth, Abnormal foot morphology, Aplasia/hy...	ORPHA:75508
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Micrognathia, Osteopetrosis, Short stature, Clinodactyly of the 5th finger, Increased bone minera...	OMIM:617306
Albers-Schönberg Osteopetrosis	Abnormality of the dentition, Short distal phalanx of finger, Carious teeth, Mandibular osteomyel...	ORPHA:53
Robin Sequence-Oligodactyly Syndrome	Finger aplasia, Abnormality of the dentition, Abnormal form of the vertebral bodies, Micrognathia...	ORPHA:3104
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Difficulty walking, Fibular bowing, Hypophosphatemia, Rickets, B...	OMIM:264700
Otopalatodigital Syndrome Type 1	Short distal phalanx of finger, Synostosis of carpal bones, Short thumb, Sandal gap, Limitation o...	ORPHA:90650
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus,...	OMIM:226900
Osteogenesis Imperfecta, Type Xxii	Slender long bone, Abnormal blood phosphate concentration, Intrauterine growth retardation, Bowin...	OMIM:619795
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Hypocalcemic Vitamin D-Resistant Rickets	Abnormality of the dentition, Abnormal adipose tissue morphology, Coarse metaphyseal trabeculariz...	ORPHA:93160
Osteopetrosis, Autosomal Recessive 8	Anemia, Osteopetrosis, Splenomegaly, Thrombocytopenia	OMIM:615085
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Hyperphosphatemia, Failure to thrive, Kyphosis, Recurrent fractures, Short humerus, L...	OMIM:239000
Diastrophic Dysplasia	Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, Bowing of the long bones, Abnorm...	ORPHA:628
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Growth delay, Bulging epiphyses, Rickets, Fibular bowing, Femora...	OMIM:600081
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th...	OMIM:612447
Epiphyseal Dysplasia, Multiple, 3	Epiphyseal dysplasia, Delayed epiphyseal ossification, Irregular epiphyses, Mildly elevated creat...	OMIM:600969
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Cortical sclerosis, Short stature, Diaphy...	OMIM:122860
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Craniosynostosis, Increased bone mineral density	ORPHA:178377
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Decreased circulating IgG level, Decreased circulating IgA l...	OMIM:612301
Endosteal Hyperostosis, Autosomal Dominant	Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Hyperostosis, ...	OMIM:144750
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Difficulty walking, Hypophosph...	ORPHA:289157
Congenital Radioulnar Synostosis	Congenital hip dislocation, Abnormality of the musculature of the upper arm, Limited elbow moveme...	ORPHA:3269
Melorheostosis	Lower limb asymmetry, Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthr...	ORPHA:2485
Brachydactyly, Type A1, C	Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib...	OMIM:615072
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Acrodysostosis	Open bite, Open mouth, Bowing of the long bones, Epicanthus, Abnormal metacarpal morphology, Abno...	ORPHA:950
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Micrognathia, Epicanthus, Short neck, Abnormal bone ossification, Flattened epiphysis, High palat...	ORPHA:163649
Metaphyseal Dysplasia Without Hypotrichosis	Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Cone-shaped epiphyses...	OMIM:250460
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Intrauterine growth retardation, Splenomegaly, Osteopetrosis, Short stature, Growth delay	OMIM:618541
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Small hand, Hyperphosphatemia, Hypocalcemia, Brachydactyly, Cone...	OMIM:618618
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora...	OMIM:300554
Flynn-Aird Syndrome	Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral...	OMIM:136300
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,...	ORPHA:174
Osteopathia Striata-Cranial Sclerosis Syndrome	Severe short stature, High iliac wing, Coarse metaphyseal trabecularization, Facial hyperostosis,...	ORPHA:2780
Pyle Disease	Absent paranasal sinuses, Genu valgum, Limited elbow extension, Metaphyseal widening, Metaphyseal...	OMIM:265900
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short middle phalanx of finger, Type ...	ORPHA:93396
Intermediate Osteopetrosis	Erlenmeyer flask deformity of the femurs, Cortical sclerosis, Osteomyelitis, Hepatosplenomegaly, ...	ORPHA:210110
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Finger syndactyly, Radioulnar synostosis, Amegakaryocytic thrombocytopenia, Hip dysplasia, Clinod...	ORPHA:71289
Distal Arthrogryposis Type 1	Ulnar deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Overlapping fin...	ORPHA:1146
Osteopetrosis, Autosomal Recessive 3	Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Osteopetrosis, Sh...	OMIM:259730
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Hyperostosis cranialis interna, Leukopenia, Diaphyseal dysplasia, Th...	OMIM:231095
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Sclerosis of skull base, Femoral bowing, Increased susceptibility to...	OMIM:602080
Spondyloepimetaphyseal Dysplasia, Missouri Type	Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened...	ORPHA:93356
Spondylometaphyseal Dysplasia, Corner Fracture Type	Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of metaphysis, Coxa vara,...	OMIM:184255
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Hypophosphatemia, Short stature, Bowing of the legs	OMIM:146350
Endove Syndrome, Limb-Only Type	Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o...	OMIM:619217
Heart-Hand Syndrome Type 2	Asymmetry of the thorax, Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Abnormal...	ORPHA:1350
Cleidocranial Dysplasia	Hypoplastic scapulae, Carious teeth, Open bite, Micrognathia, Genu valgum, Decreased skull ossifi...	ORPHA:1452
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den...	OMIM:241520
Osteogenesis Imperfecta, Type Xiii	Decreased body weight, Arachnodactyly, Dislocated radial head, Pectus carinatum, Wide distal femo...	OMIM:614856
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Genu valgum, ...	ORPHA:166016
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Osteopetrosis, Anemia	OMIM:612840
Metatropic Dysplasia	Severe short stature, Coarse metaphyseal trabecularization, Hypoplastic cervical vertebrae, Micro...	ORPHA:2635
Metaphyseal Anadysplasia	Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho...	ORPHA:1040
Developmental Dysplasia Of The Hip 2	Hip osteoarthritis, Arthritis, Coxa valga, Hip dysplasia	OMIM:615612
Body Mass Index Quantitative Trait Locus 20	Tall stature, Increased bone mineral density	OMIM:618406
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Finger swelling, Hypoplasia of the odontoid process, Limitation of joint mob...	ORPHA:93284
Spondyloepiphyseal Dysplasia Congenita	Aplasia/hypoplasia involving bones of the extremities, Growth delay, Upper limb undergrowth, Abno...	ORPHA:94068
Trichothiodystrophy 6, Nonphotosensitive	Coronal craniosynostosis, Increased HbA2 hemoglobin, Pes cavus, Decreased mean corpuscular volume...	OMIM:616943
X-Linked Hypophosphatemia	Cellulitis, Limitation of joint mobility, Genu valgum, Bowing of the long bones, Tooth abscess, H...	ORPHA:89936
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ...	OMIM:113310
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Difficulty walking, Fibular bowing, Hypophosphatemia, Abnormal c...	OMIM:241530
Familial Expansile Osteolysis	Bowing of the long bones, Osteolysis, Thin bony cortex, Pathologic fracture	OMIM:174810
Fibrous Dysplasia Of Bone	Increased circulating cortisol level, Osteomalacia, Difficulty walking, Abnormality of the spheno...	ORPHA:249
Pycnodysostosis	Small hand, Carious teeth, Delayed cranial suture closure, Acromelia, Hypoplastic iliac wing, Hep...	ORPHA:763
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Bifid uvula, Patchy osteosclerosis, Small hand, Hyperphosphatemia, Long philtrum, Micrognathia, H...	OMIM:241410
Cranio-Osteoarthropathy	Clubbing of toes, Deviation of finger, Abnormal tibia morphology, Joint stiffness, Abnormal corti...	ORPHA:1525
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Erlenmeyer flask deformity of the femurs, Craniofacial osteosclerosis, Increased skull ossificati...	OMIM:618476
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul...	ORPHA:1570
Osteopetrosis, Autosomal Recessive 5	Flared metaphysis, Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Microg...	OMIM:259720
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Renal hypophosphatemia, Pseudo-fractures, Lower limb asymmet...	ORPHA:289176
Sanjad-Sakati Syndrome	Abnormality of the dentition, Patchy osteosclerosis, Small hand, Hyperphosphatemia, Long philtrum...	ORPHA:2323
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata...	ORPHA:85170
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Broad femoral neck, Abnormal diaphysis morphology, Overtubulated long bones, Short tu...	ORPHA:85184
Ulna Metaphyseal Dysplasia Syndrome	Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bo...	ORPHA:1837
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Autosomal Dominant Kenny-Caffey Syndrome	Carious teeth, Hyperphosphatemia, Delayed cranial suture closure, Hypocalcemic tetany, Persistenc...	ORPHA:93325
Pseudohypoparathyroidism Type 1A	Hyperphosphatemia, Short neck, Calcinosis, Short metacarpal, Choreoathetosis, Broad distal phalan...	ORPHA:79443
Pseudohypoparathyroidism Type 1C	Short fifth metatarsal, Broad distal phalanx of the thumb, Ectopic ossification, Short 3rd metaca...	ORPHA:79444
Schwartz-Jampel Syndrome	Arthrogryposis multiplex congenita, Elbow dislocation, Pursed lips, Micrognathia, Narrow mouth, G...	ORPHA:800
Chondrodysplasia, Blomstrand Type	Micromelia, Flared metaphysis, Micrognathia, Short ribs, Generalized osteosclerosis, Advanced oss...	OMIM:215045
Dysosteosclerosis	Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Hypoplastic vertebral bodies, Sh...	ORPHA:1782
Grant Syndrome	Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Micrognathia, Abnormal ...	ORPHA:2097
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Increased circulating antibod...	ORPHA:1310
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace...	OMIM:156530
Stuve-Wiedemann Syndrome 1	Thin ribs, Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal rarefaction, Bowing...	OMIM:601559
Multiple Epiphyseal Dysplasia Type 4	Hypoplastic cervical vertebrae, Radial bowing, Limitation of joint mobility, Premature osteoarthr...	ORPHA:93307
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Cone-shaped epiphyses of the middle phalanges of the hand, Dental crowding, Sparse la...	OMIM:190351
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Small hand, Clinodactyly, Obesity, Micrognathia, Joint hypermobility, Hypercholesterolemia, High ...	ORPHA:254531
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob...	OMIM:114000
Boomerang Dysplasia	Narrow chest, Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology...	ORPHA:1263
Slc35A2-Cdg	Aplasia/hypoplasia involving bones of the extremities, Osteopenia, Short tibia, Camptodactyly of ...	ORPHA:356961
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Hypoplastic scapulae, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ...	ORPHA:440354
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Short femoral neck, Brachydactyly, Short stature, Reduced bone mineral density, Delayed ossificat...	OMIM:618392
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Micrognathia, Radioulnar synostosis, Talipes equinovarus, Spreng...	ORPHA:1988
Short Stature, Dauber-Argente Type	Osteopenia, Decreased fibular diameter, Postnatal growth retardation, Increased insulin like grow...	OMIM:619489
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Carious teeth, Micrognathia, Genu valgum, Hip contracture, Pes planus, Flattened epiphysis, Advan...	OMIM:618363
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia...	OMIM:119100
Epiphyseal Chondrodysplasia, Miura Type	Epiphyseal dysplasia, Fifth finger distal phalanx clinodactyly, Osteopenia, Broad hallux, Long ha...	OMIM:615923
Dysostosis, Stanescu Type	Carious teeth, Bowing of the long bones, Short neck, Increased bone mineral density, Hypoplasia o...	ORPHA:1798
Rothmund-Thomson Syndrome	Carious teeth, Aplastic anemia, Sparse eyelashes, Aplasia/Hypoplasia of the patella, Neutropenia,...	ORPHA:2909
Dominant Beta-Thalassemia	Abnormality of the dentition, Abnormality of iron homeostasis, Reduced hemoglobin A, Hyperplasia ...	ORPHA:231226
Camurati-Engelmann Disease	Carious teeth, Limitation of joint mobility, Abnormal tibia morphology, Slender build, Genu valgu...	ORPHA:1328
Acheiropodia	Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia...	ORPHA:931
Axial Osteomalacia	Increased bone mineral density, Elevated circulating creatine kinase concentration, Osteomalacia	OMIM:109130
Dysosteosclerosis	Natal tooth, Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Increased interverte...	OMIM:224300
Gnathodiaphyseal Dysplasia	Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, ...	OMIM:166260
Brachydactyly-Syndactyly, Zhao Type	Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin...	ORPHA:93409
Brachydactylous Dwarfism, Mseleni Type	Severe short stature, Osteopenia, Hip osteoarthritis, Abnormality of the ankle, Limitation of joi...	ORPHA:2619
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub...	OMIM:119600
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short distal phalanx of finger, Short thumb, Hallux varus, Short hallux, Hitchhiker thumb, Short ...	OMIM:112450
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora...	OMIM:300009
Fibular Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna	ORPHA:1118
Hypophosphatasia, Childhood	Carious teeth, Rachitic rosary, Elevated plasma pyrophosphate, Premature loss of primary teeth, C...	OMIM:241510
Temple Syndrome	Bifid uvula, Small hand, Clinodactyly, Obesity, Micrognathia, Overweight, Hypertriglyceridemia, J...	OMIM:616222
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Platyspondyly, Multiple small vertebral fractures, Hypoplasia of the maxilla, Flared metaphysis, ...	OMIM:156510
Orofaciodigital Syndrome Type 10	Short tibia, Fibular aplasia, Cleft soft palate, Micrognathia, Short neck, Tarsal synostosis, Mes...	ORPHA:2756
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Abnormal rib cage morphology, Osteopenia, Hypoplasia of the maxilla, Abnormality of carpal bone o...	OMIM:608154
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Obesity, Hypocalcemia, Brachydactyly, Short metacarpal	OMIM:603233
Monosomy 5P	Small hand, Microretrognathia, Finger syndactyly, Intrauterine growth retardation, Recurrent frac...	ORPHA:281
Acrootoocular Syndrome	Micrognathia, Anodontia, Epicanthus, Blepharophimosis, Small thenar eminence, Short foot, Short m...	ORPHA:2980
Lethal Congenital Contracture Syndrome Type 1	Limitation of joint mobility, Slender long bone, Abnormal hip bone morphology, Micrognathia, Abno...	ORPHA:1486
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Metaphyseal cupping, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Genu varum, B...	OMIM:619073
Spondylometaphyseal Dysplasia, Type A4	Platyspondyly, Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis,...	OMIM:609052
Microphthalmia With Limb Anomalies	Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, E...	ORPHA:1106
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Spondyloepimetaphyseal Dysplasia, Irapa Type	Synostosis of carpal bones, Limitation of joint mobility, Abnormal joint morphology, Genu valgum,...	ORPHA:93351
Hypophosphatemic Rickets, Autosomal Dominant	Rickets, Osteomalacia, Hypophosphatemic rickets, Abnormality of the lower limb, Hypophosphatemia,...	OMIM:193100
Osteogenesis Imperfecta, Type X	Osteopenia, Rhizomelia, Micromelia, Genu valgum, Fibular bowing, Micrognathia, Tibial bowing, Dec...	OMIM:613848
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Arthritis, Anemia, Increased bone mineral density, Increased circulat...	ORPHA:37748
Laron Syndrome	Delayed eruption of teeth, Short toe, Tooth agenesis, Micrognathia, Microdontia, Hypercholesterol...	ORPHA:633
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Erlenmeyer flask deformity of the femurs, Hypocholesterolemia, Hypersplenism, Splenom...	OMIM:610539
Epiphyseal Dysplasia, Baumann Type	Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Hypoplasia of ...	OMIM:610797
Paget Disease Of Bone 3	Patchy osteosclerosis, Fractures of the long bones, Osteolysis	OMIM:167250
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Flared metaphysis, Decreased fibular diameter, Intrauterine growth retardation, Micro...	OMIM:616897
Acrofacial Dysostosis Syndrome Of Rodriguez	Wide nasal bridge, Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micr...	OMIM:201170
Megalocornea-Intellectual Disability Syndrome	Wide nasal bridge, Osteopenia, Kyphosis, Downslanted palpebral fissures, Micrognathia, Open mouth...	ORPHA:2479
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpal, Pes planus, ...	OMIM:619638
Osteogenesis Imperfecta, Type Xxiii	Osteopenia, Shallow acetabular fossae, Genu valgum, Recurrent fractures, Broad femoral head, Shor...	OMIM:620639
Metaphyseal Chondrodysplasia, Jansen Type	Tooth malposition, Osteopenia, Metaphyseal cupping, Clubbing of fingers, Pathologic fracture, Mic...	OMIM:156400
Trichorhinophalangeal Syndrome Type 1	Abnormality of the dentition, Sparse eyebrow, Cone-shaped epiphysis, Short distal phalanx of fing...	ORPHA:77258
Desmosterolosis	Severe short stature, Micromelia, Intrauterine growth retardation, Micrognathia, Splenomegaly, Ta...	ORPHA:35107
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Broad femoral neck, Moderately short stature, Abnormal metaphysis morphology, Flat ca...	ORPHA:157965
Acrorenal Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Micrognathia, Abnormal morphology of...	ORPHA:971
Mucopolysaccharidosis Type 4	Carious teeth, Genu valgum, Bowing of the long bones, Hernia, Short neck, Pectus carinatum, Joint...	ORPHA:582
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Hypocalcemia, Abnormality of the medullary cavity of the long bones, Thickened...	OMIM:127000
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Osteopenia, Dense metaphyseal bands, Slender build, Intrauterine growth retardation, Slender long...	ORPHA:50811
Pseudopseudohypoparathyroidism	Short 5th finger, Short distal phalanx of the thumb, Ectopic ossification, Short 5th metacarpal, ...	ORPHA:79445
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Coarse metaphyseal trabecularization, Epiphyseal stippling, Bowing of the long bones, Abnormal bo...	ORPHA:1952
Atelosteogenesis Type I	Rhizomelia, Absent or minimally ossified vertebral bodies, Micrognathia, Neonatal short-trunk sho...	ORPHA:1190
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Osteomalacia, Hypocalcemia, Tooth abscess, Iron deficiency anemia, Hypophosphatemia, Bow...	ORPHA:89937
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Pseudoachondroplasia	Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra...	OMIM:177170
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Flattened femoral head, Hip osteoarthritis, Broad femoral neck, Arthralgia of the hip, Wide dista...	ORPHA:99642
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma...	OMIM:228900
Langer Mesomelic Dysplasia	Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s...	ORPHA:2632
Cohen Syndrome	Micrognathia, Open mouth, Genu valgum, Narrow palm, Pes planus, Neutropenia, Short metacarpal, Hi...	OMIM:216550
Kyphomelic Dysplasia	Narrow chest, Limitation of joint mobility, Micromelia, Abnormal form of the vertebral bodies, Jo...	ORPHA:1801
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Retrognathia, Failure to thrive, Micrognathia, Anisocytosis, Camptodactyly, Flexion contracture, ...	OMIM:604273
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Intrauterine growth retardation, Reduced bone mineral den...	ORPHA:2370
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R...	ORPHA:93314
Zimmermann-Laband Syndrome	Micrognathia, Short neck, Pes planus, High palate, Gingival fibromatosis, Anterior open-bite malo...	ORPHA:3473
Mandibuloacral Dysplasia	Increased circulating free fatty acid level, Increased subcutaneous truncal adipose tissue, Denta...	ORPHA:2457
Aarskog-Scott Syndrome	Small hand, Finger syndactyly, Broad foot, Talipes, Epicanthus, Short neck, Pes planus, Everted l...	ORPHA:915
Trichorhinophalangeal Syndrome Type 2	Wide nasal bridge, Abnormality of the dentition, Joint dislocation, Long philtrum, Avascular necr...	ORPHA:502
Lenz-Majewski Hyperostotic Dwarfism	Severe short stature, Aplastic clavicle, Limitation of joint mobility, Finger syndactyly, Cranial...	ORPHA:2658
Bent Bone Dysplasia Syndrome 2	Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, In...	OMIM:620076
Smith-Magenis Syndrome	Toe syndactyly, Micrognathia, Open mouth, Delayed eruption of primary teeth, Pes planus, Short no...	ORPHA:819
Atelosteogenesis, Type Iii	Hypoplasia of the maxilla, Rhizomelia, Tombstone-shaped proximal phalanges, Elbow dislocation, Ra...	OMIM:108721
Acrofacial Dysostosis, Palagonia Type	High, narrow palate, Small hand, Unilateral cleft lip, Sparse lateral eyebrow, Finger syndactyly,...	ORPHA:1787
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Wide nasal bridge, Platyspondyly, Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Downtu...	ORPHA:93267
Ck Syndrome	Slender build, Micrognathia, Abnormal cortical bone morphology, Joint hypermobility, Abnormal dig...	OMIM:300831
Opsismodysplasia	Hypoplasia of the odontoid process, Bell-shaped thorax, Short neck, Hypophosphatemia, Anterior ri...	OMIM:258480
Mandibuloacral Dysplasia With Type A Lipodystrophy	Increased adipose tissue around the neck, Delayed cranial suture closure, Micrognathia, Reduced s...	OMIM:248370
Hypophosphatasia	Abnormality of the dentition, Narrow chest, Failure to thrive in infancy, Hypercalcemia, Bowing o...	ORPHA:436
Polydactyly, Postaxial, Type A7	Short fifth metatarsal, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe cutaneous...	OMIM:617642
Cleidocranial Dysplasia 2	Osteopenia, Hypoplasia of the maxilla, Broad thumb, Short distal phalanx of finger, Aplastic clav...	OMIM:620099
Smith-Magenis Syndrome	Wide nasal bridge, Abnormality of the dentition, Abnormal forearm morphology, Scoliosis, Everted ...	OMIM:182290
Orofaciodigital Syndrome Viii	Short tibia, Telecanthus, Polydactyly, Median cleft upper lip, High palate, Cleft palate, Syndactyly	OMIM:300484
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Natal tooth, Short tibia, Bell-shaped thorax, Flat acetabular roof, Sparse eyebrow, Cleft lip, Ha...	OMIM:616300
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ...	ORPHA:96334
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Growth delay, Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Path...	ORPHA:157215
Mucopolysaccharidosis, Type Iva	Constricted iliac wing, Carious teeth, Hypoplasia of the odontoid process, Genu valgum, Short nec...	OMIM:253000
Pycnodysostosis	Aplastic clavicle, Spondylolysis, Carious teeth, Persistent open anterior fontanelle, Persistence...	OMIM:265800
Fanconi Renotubular Syndrome 3	Rickets, Elevated circulating creatinine concentration, Short stature, Growth delay, Bowing of th...	OMIM:615605
Dysspondyloenchondromatosis	Platyspondyly, Anisospondyly, Joint dislocation, Lower limb asymmetry, Genu valgum, Metaphyseal e...	ORPHA:85198
Florid Cemento-Osseous Dysplasia	Abnormal cementum morphology, Abnormal trabecular bone morphology, Periapical bone loss, Mandibul...	ORPHA:83451
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast...	OMIM:223800
Microcephaly-Micromelia Syndrome	Short palpebral fissure, Narrow chest, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micro...	OMIM:251230
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ...	ORPHA:90652
Pelviscapular Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Elbow flexion contracture, Me...	ORPHA:93333
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Bifid uvula, Small hand, Clinodactyly, Obesity, Micrognathia, Narrow mouth, Joint hypermobility, ...	ORPHA:96184
Orofaciodigital Syndrome Iv	Toe syndactyly, Lobulated tongue, Short tibia, Clinodactyly, Hamartoma of tongue, Short finger, M...	OMIM:258860
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ...	OMIM:300106
Brachyolmia Type 1, Hobaek Type	Osteopenia, Short iliac bones, Flattened proximal radial epiphyses, Increased upper to lower segm...	OMIM:271530
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta...	OMIM:602111
Coxoauricular Syndrome	Abnormal pelvic girdle bone morphology, Micromelia, Abnormal femur morphology, Short stature, Red...	ORPHA:1508
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Short tibia, Sandal gap, Failure to thrive, Butterfly vertebrae, Hypocalcemia, Short ...	OMIM:607143
Weismann-Netter Syndrome	Fibular bowing, Lateral femoral bowing, Calvarial hyperostosis, Squared iliac bones, Anterior tib...	OMIM:112350
Congenital Disorder Of Glycosylation, Type Iig	Small hand, Shallow acetabular fossae, Giant platelets, Micrognathia, Narrow mouth, Talipes equin...	OMIM:611209
Tetrasomy X	Abnormality of the dentition, Upslanted palpebral fissure, Joint hypermobility, Radioulnar synost...	ORPHA:9
Kenny-Caffey Syndrome, Type 1	Thin ribs, Small hand, Carious teeth, Slender long bone, Hypomagnesemia, Hypocalcemia, Decreased ...	OMIM:244460
Mesomelic Dysplasia, Nievergelt Type	Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Elbow dislocation, Finger syndact...	ORPHA:2633
Gorham-Stout Disease	Osteopenia, Cortical irregularity, Osteomyelitis, Pathologic fracture, Abnormal femur morphology,...	ORPHA:73
Metaphyseal Chondrodysplasia, Schmid Type	Broad middle phalanx of finger, Short distal phalanx of finger, Metaphyseal cupping of metacarpal...	OMIM:156500
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal epiphysis morphology, Downturned corners of mouth, Downslanted palpebral fissures, Ename...	ORPHA:2643
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Hypoplasia of the maxilla, Ankle swelling, Carpal osteolysis, Wrist swelling, Inabili...	OMIM:166300
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Fibular aplasia, Micrognathia, Aplasia/Hypoplasia of the patella,...	ORPHA:3320
Autosomal Recessive Primary Microcephaly	Short stature, Abnormal cortical bone morphology, Growth delay	ORPHA:2512
Camurati-Engelmann Disease	Carious teeth, Slender build, Sclerosis of skull base, Genu valgum, Diaphyseal sclerosis, Reduced...	OMIM:131300
Blomstrand Lethal Chondrodysplasia	Synostosis of joints, Natal tooth, Distal shortening of limbs, Micrognathia, Protruding tongue, B...	ORPHA:50945
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Abnormal epiphysis morphology, Premature epimetaphyseal fusion, Limitation of joint m...	ORPHA:85435
Omodysplasia 1	Short tibia, Limited knee flexion/extension, Limited elbow flexion, Limited hip movement, Microgn...	OMIM:258315
Autosomal Recessive Robinow Syndrome	Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger syndactyly, Broad thumb, Op...	ORPHA:1507
Raine Syndrome	Natal tooth, Arthrogryposis multiplex congenita, Long hallux, Micrognathia, Narrow mouth, Protrud...	OMIM:259775
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Shallow acetabular fossae, Toe syndactyly, Broad thumb, Hypoplastic iliac wing, Micrognathia, Epi...	OMIM:609945
Orofaciodigital Syndrome Ii	Postaxial foot polydactyly, Micrognathia, High palate, Syndactyly, Accessory oral frenulum, Hypop...	OMIM:252100
Rothmund-Thomson Syndrome Type 2	Carious teeth, Aplastic anemia, Patellar aplasia, Aplasia/hypoplasia involving bones of the upper...	ORPHA:221016
Autosomal Recessive Kenny-Caffey Syndrome	Thin ribs, Small hand, Carious teeth, Delayed cranial suture closure, Hypocalcemic tetany, Hypoca...	ORPHA:93324
Specific Granule Deficiency 2	Tooth malposition, Conical tooth, Osteopenia, Sandal gap, Failure to thrive, Absent neutrophil sp...	OMIM:617475
Craniometaphyseal Dysplasia, Autosomal Dominant	Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femurs, Flared metaphys...	OMIM:123000
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Wide nasal bridge, Downturned corners of mouth, Retrognathia, Lymphopenia, Long eyelashes, Leukop...	OMIM:301110
Atelosteogenesis Type Iii	Hand clenching, Absent humerus, Elbow dislocation, Short tibia, Fibular aplasia, Micrognathia, Ta...	ORPHA:56305
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Cleft mandible, Micrognathia, Narrow mouth, Talipes equinovarus, Short hallux, Small...	OMIM:268305
9Q31.1Q31.3 Microdeletion Syndrome	Highly arched eyebrow, Small hand, Cervical kyphosis, Short clavicles, Short neck, Hypercholester...	ORPHA:401923
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Epicanthus, Short neck, Neutropenia, Abnormal bone ossifica...	ORPHA:175
Autosomal Recessive Malignant Osteopetrosis	Abnormal epiphysis morphology, Growth delay, Abnormal metaphysis morphology, Hypocalcemia, Spleno...	ORPHA:667
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Limitation of joint mobili...	ORPHA:2639
Atelosteogenesis Type Ii	Hypoplastic cervical vertebrae, Equinovarus deformity, Genu valgum, Micrognathia, Broad phalanx, ...	ORPHA:56304
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Finger clinodactyly, Widely spaced teeth, Periapical tooth abscess, Enamel hy...	ORPHA:3352
Neuhauser Syndrome	Wide nasal bridge, Bifid uvula, Osteopenia, Genu recurvatum, Long philtrum, Downslanted palpebral...	OMIM:249310
Melnick-Needles Syndrome	Tooth malposition, Craniofacial hyperostosis, Delayed cranial suture closure, Micrognathia, Bowin...	ORPHA:2484
Cohen Syndrome	Finger syndactyly, Micrognathia, Open mouth, Genu valgum, Narrow palm, Arachnodactyly, Neutropeni...	ORPHA:193
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi...	OMIM:259600
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Femoral bowing, Increased susceptibility to fractures, Short stature, Recurrent fract...	OMIM:615066
Craniosynostosis With Fibular Aplasia	Craniosynostosis, Fibular aplasia	OMIM:218550
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Retrognathia, Abnormal number of incisors, Finger clinodactyly, Inguinal hernia, Supernumerary ri...	ORPHA:2958
Autosomal Dominant Robinow Syndrome	Elbow dislocation, Finger syndactyly, Open bite, Micrognathia, Anodontia, Epicanthus, Euryblephar...	ORPHA:3107
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Downslanted palpebral fissures, Obesity, Abnormal morphology of ulna, Short neck, Abnormal metaca...	ORPHA:2233
Atelosteogenesis, Type Ii	Micrognathia, Increased intervertebral space, Talipes equinovarus, Short neck, Short greater scia...	OMIM:256050
Kyphomelic Dysplasia	Limitation of joint mobility, Radial bowing, Micromelia, Flared metaphysis, Dumbbell-shaped humer...	OMIM:211350
Axial Spondylometaphyseal Dysplasia	Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula...	ORPHA:168549
Craniodiaphyseal Dysplasia	Wide nasal bridge, Craniofacial hyperostosis, Diaphyseal undertubulation, Abnormal rib morphology	ORPHA:1513
Fibrodysplasia Ossificans Progressiva	Synostosis of joints, Abnormal vertebral morphology, Limitation of joint mobility, Failure to thr...	ORPHA:337
Majeed Syndrome	Osteomyelitis, Leukocytosis, Increased susceptibility to fractures, Splenomegaly, Synovitis, Cong...	ORPHA:77297
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hyperphosphatemia, Metacarpal periosteal thickening, Calvarial osteosclerosis, Achill...	OMIM:617994
Pde4D Haploinsufficiency Syndrome	Micrognathia, Broad foot, Pes planus, Narrow palpebral fissure, Bilateral coxa valga, Broad phala...	ORPHA:439822
Mosaic Trisomy 14	Wide nasal bridge, Narrow chest, Lower limb asymmetry, Failure to thrive, Camptodactyly of finger...	ORPHA:1703
2Q31.1 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Micrognathia, Epicanthus, Short nec...	ORPHA:251014
Temtamy Preaxial Brachydactyly Syndrome	Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Nar...	ORPHA:363417
Hypochondroplasia	Disproportionate short-limb short stature, Flared metaphysis, Trident hand, Limited elbow extensi...	OMIM:146000
Acromesomelic Dysplasia 4	Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to...	OMIM:619636
Spondyloperipheral Dysplasia	Broad thumb, Absent styloid process of ulna, Barrel-shaped chest, Short neck, Flat acetabular roo...	OMIM:271700
Andersen Cardiodysrhythmic Periodic Paralysis	Small hand, Toe syndactyly, Micrognathia, Blepharophimosis, High palate, Short foot, Short metaca...	OMIM:170390
Senior-Loken Syndrome	Short stature, Cone-shaped epiphysis, Abnormality of bone mineral density	ORPHA:3156
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Micrognathia, Splenomegaly, Upslanted palpebral fissure, Tibial bowing, Bowing of ...	ORPHA:3035
Linear Verrucous Nevus Syndrome	Genu recurvatum, Toe syndactyly, Talipes, Hypophosphatemia, Scoliosis, Reduced bone mineral densi...	ORPHA:2611
Greenberg Dysplasia	Platyspondyly, Rhizomelia, Narrow chest, Abnormal pelvis bone ossification, Micromelia, Abnormal ...	ORPHA:1426
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Joint contracture of the hand, Shallow acetabular fossae, Toe syndac...	OMIM:201000
Mucopolysaccharidosis-Plus Syndrome	Epicanthus, Short neck, Neutropenia, Clubbing, Pectus carinatum, Inability to walk, Long eyelashe...	OMIM:617303
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology, Abnormal clavicle morphology, Abnormal dental morphology, Malar...	ORPHA:2522
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Difficulty walking, Genu valgum, Short ...	ORPHA:239
Cenani-Lenz Syndrome	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger synda...	ORPHA:3258
Galloway-Mowat Syndrome 7	Cleft lip, Clinodactyly, Micrognathia, Partial duplication of thumb phalanx, Single transverse pa...	OMIM:618348
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Reduced natural killer cell count, Cutaneous abscess, Lymphopenia, Persistence of primary teeth, ...	OMIM:619752
Rhizomelic Chondrodysplasia Punctata, Type 2	Wide nasal bridge, Osteopenia, Abnormal pelvic girdle bone morphology, Rhizomelia, Failure to thr...	OMIM:222765
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa...	OMIM:112250
Oncogenic Osteomalacia	Abnormal vertebral morphology, Abnormal foot morphology, Pathologic fracture, Abnormality of the ...	ORPHA:352540
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ...	ORPHA:1275
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Barrel-shaped chest, ...	OMIM:143095
Mucopolysaccharidosis, Type Ivb	Constricted iliac wing, Carious teeth, Hypoplasia of the odontoid process, Genu valgum, Ataxia, B...	OMIM:253010
3M Syndrome	Thin ribs, Short neck, Everted lower lip vermilion, Hypoplastic ischia, Abnormality of the elbow,...	ORPHA:2616
Maxillonasal Dysplasia	Short distal phalanx of finger, Hypoplasia of the maxilla, Tooth agenesis, Open bite, Patchy dist...	ORPHA:1248
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Long clavicles, Con...	OMIM:210720
Solitary Bone Cyst	Abnormal ilium morphology, Abnormal tibia morphology, Lytic defects of the radius, Pathologic fra...	ORPHA:83468
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Flat acetabular roof, Ovoid vertebral bodies, Thoracic hypoplasia, Small e...	OMIM:608728
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperphosphatemia, Hyperostosis, Taurodontia, Pulp calcification, Enamel hypoplasia, Conjunctival...	OMIM:211900
Rothmund-Thomson Syndrome Type 1	Carious teeth, Aplastic anemia, Patellar aplasia, Neutropenia, Calcinosis, Leukemia, Short metaca...	ORPHA:221008
Multiple Epiphyseal Dysplasia, Beighton Type	Limitation of joint mobility, Genu valgum, Intervertebral space narrowing, Reduced proximal inter...	ORPHA:166011
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Joint contracture of the hand, Pes planus, Flattened epiphysis, Dislocated radial head, High pala...	OMIM:612350
Distal Limb Deficiencies-Micrognathia Syndrome	Hypoplasia of the maxilla, Microglossia, Microretrognathia, Abnormality of the ankle, Aplasia/Hyp...	ORPHA:1307
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Mesomelia, Abnormal epiphysis morphology, Elbow dislocation, Retrognathia, Camptodactyly of finge...	ORPHA:2631
Grant Syndrome	Micrognathia, Tibial bowing, Down-sloping shoulders	OMIM:138930
Achondroplasia	Rhizomelia, Radial bowing, Flared metaphysis, Femoral bowing, Trident hand, Limited elbow extensi...	OMIM:100800
Familial Osteodysplasia, Anderson Type	Tooth malposition, Carious teeth, Elbow dislocation, Aplasia/hypoplasia of the femur, Long nose, ...	ORPHA:2769
Hyperparathyroidism, Transient Neonatal	Osteopenia, Fractured rib, Metaphyseal spurs, Femoral bowing, Splenic cyst, Short ribs, Subperios...	OMIM:618188
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Micrognathia, Thrombocytopenia	ORPHA:1237
Fibrochondrogenesis 2	Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Micrognathia, Bell-sha...	OMIM:614524
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Orofaciodigital Syndrome Type 2	Natal tooth, Velopharyngeal insufficiency, Short tibia, Finger syndactyly, Micrognathia, Broad fi...	ORPHA:2751
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ...	OMIM:224120
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Wide nasal bridge, Delayed epiphyseal ossification, Abnormal vertebral morphology, Clinodactyly, ...	ORPHA:166024
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Hypoplastic iliac wing, Pes planus, Beaking of vertebral bodies, Broad toe, Flat acetabular roof,...	OMIM:609616
Acro-Renal-Mandibular Syndrome	Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Congenital ...	ORPHA:958
Spondylometaphyseal Dysplasia, X-Linked	Severe short stature, Short finger, Hyperextensibility of the finger joints, Sclerosis of skull b...	OMIM:313420
Arthrogryposis, Distal, Type 12	Spinal rigidity, Ankle flexion contracture, Absent distal interphalangeal creases, Dental crowdin...	OMIM:620545
Ivic Syndrome	Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l...	OMIM:147750
Brachyolmia Type 1, Toledo Type	Precocious costochondral ossification, Childhood-onset short-trunk short stature, Disproportionat...	OMIM:271630
Progressive Pseudorheumatoid Arthropathy Of Childhood	Abnormal ilium morphology, Joint contracture of the hand, Limitation of joint mobility, Genu valg...	ORPHA:1159
Hallermann-Streiff Syndrome	Thin ribs, Natal tooth, Micrognathia, Narrow mouth, Sparse eyelashes, Everted lower lip vermilion...	OMIM:234100
Hypophosphatasia, Adult	Rickets, Osteomalacia, Pathologic fracture, Abnormal foot morphology, Increased susceptibility to...	OMIM:146300
Thanatophoric Dysplasia Type 1	Hypoplastic ilia, Micromelia, Joint stiffness, Femoral bowing, Bowing of the long bones, Abnormal...	ORPHA:1860
Pelger-Huet Anomaly	Abnormality of the dentition, Giant platelets, Short 3rd metacarpal, Failure to thrive, Upper lim...	OMIM:169400
Combined Oxidative Phosphorylation Deficiency 55	Bilateral ptosis, Hypomagnesemia, Mildly elevated creatine kinase, Hypophosphatemic rickets, Open...	OMIM:619743
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Bell-shaped thorax, Short nec...	OMIM:271665
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Thin ribs, Hypoplasia of the odontoid process, Broad foot, Short neck, Anterior rib cupping, Flat...	OMIM:300232
Martsolf Syndrome 1	Tooth malposition, Micrognathia, Epicanthus, Talipes equinovarus, Pes planus, Broad fingertip, Fi...	OMIM:212720
Shwachman-Diamond Syndrome	Carious teeth, Aplastic anemia, Abnormal joint morphology, Pancytopenia, Oral ulcer, Increased se...	ORPHA:811
Dermatosparaxis Ehlers-Danlos Syndrome	Severe short stature, Osteopenia, Rickets, Osteomalacia, Avascular necrosis of the capital femora...	ORPHA:1901
Trichorhinophalangeal Syndrome, Type I	Carious teeth, Clinodactyly, Swelling of proximal interphalangeal joints, Micrognathia, Pes planu...	OMIM:190350
Kniest Dysplasia	Delayed epiphyseal ossification, Limitation of joint mobility, Hip contracture, Short neck, Lumba...	OMIM:156550
Osteoglophonic Dysplasia	Hypoplastic scapulae, Broad thumb, Broad foot, Bowing of the long bones, Short neck, Broad phalan...	OMIM:166250
Stuve-Wiedemann Syndrome 2	Thoracic hypoplasia, Bowing of the long bones, Short long bone, Thrombocytopenia, Camptodactyly, ...	OMIM:619751
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Hepatosp...	OMIM:215140
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Pancytopenia, Irregular ossification at anterior rib ends, Acute mye...	OMIM:260400
Renal Tubular Acidosis, Proximal	Short stature, Elevated circulating creatinine concentration, Rickets, Osteomalacia	OMIM:179830
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ...	ORPHA:2141
Thoracomelic Dysplasia	Abnormal pelvic girdle bone morphology, Narrow chest, Elbow dislocation, Genu valgum, Bell-shaped...	ORPHA:1803
Seckel Syndrome 1	Ivory epiphyses, Pancytopenia, Micrognathia, Talipes, Pes planus, Blepharophimosis, Dislocated ra...	OMIM:210600
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie...	OMIM:618019
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Ulnar deviation of finger, Lacrimal duct atresia, Downslanted palpebra...	ORPHA:1529
Craniometadiaphyseal Dysplasia	Osteopenia, Carious teeth, Natal tooth, Absent paranasal sinuses, Dental crowding, Downslanted pa...	OMIM:269300
Poland Syndrome	Acute leukemia, Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Congenital diap...	ORPHA:2911
Autoimmune Hypoparathyroidism	Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Conjunctivitis, Hypocalcemic seizures, Incr...	ORPHA:36913
Chst3-Related Skeletal Dysplasia	Highly arched eyebrow, Sparse eyebrow, Rhizomelia, Delayed eruption of teeth, Long philtrum, Abno...	ORPHA:263463
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short metatarsal, Sh...	OMIM:601438
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hypoplasia of the maxilla, Telecanthus, Obesity, Cone-shaped epiphyses of the 3rd toe, Ptosis, Co...	ORPHA:397973
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Difficulty walking, Overlapping toe, Genu valgum, Epicanthus, Carpal bone hypoplasia, Pes planus,...	ORPHA:457395
Osteogenesis Imperfecta, Type V	Platyspondyly, Dentinogenesis imperfecta, Osteopenia, Abnormal pelvic girdle bone morphology, Ver...	OMIM:610967
Ophthalmomandibulomelic Dysplasia	Mesomelia, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Lateral humeral condyle ...	ORPHA:2741
Spondylometaphyseal Dysplasia, Kozlowski Type	Hypoplasia of the odontoid process, Carpal bone hypoplasia, Short neck, Irregular capital femoral...	OMIM:184252
Oculocerebrorenal Syndrome Of Lowe	Carious teeth, Periodontitis, Osteomalacia, Open bite, Micrognathia, Open mouth, Genu valgum, Hyp...	ORPHA:534
W Syndrome	Upper lip pit, Broad uvula, Elbow dislocation, Radial bowing, Downslanted palpebral fissures, Cli...	ORPHA:2804
Orofaciodigital Syndrome Ix	Abnormality of the dentition, Toe syndactyly, Short tibia, Telecanthus, Median cleft upper lip, H...	OMIM:258865
Atelosteogenesis, Type I	Radial bowing, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Aplasia/Hypoplasia of...	OMIM:108720
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ...	OMIM:271650
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D...	OMIM:311300
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Abnormality of the dentition, Carious teeth, Abnormal palate morphology, Radioulnar synostosis, G...	ORPHA:3270
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Braddock-Carey Syndrome 1	Wide nasal bridge, Small hand, Clinodactyly, Downslanted palpebral fissures, Telecanthus, Talipes...	OMIM:619980
20P12.3 Microdeletion Syndrome	Wide nasal bridge, Pectus carinatum, Hypoplasia of the maxilla, Broad thumb, Long philtrum, Downs...	ORPHA:261295
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Cleft lip, Clinodactyly, Micrognathia, Partial duplication of thumb phalanx, Ara...	OMIM:616730
Odontochondrodysplasia 1	Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Genu ...	OMIM:184260
Acromesomelic Dysplasia, Hunter-Thompson Type	Abnormal pelvic girdle bone morphology, Abnormality of the ankle, Hip dislocation, Short thumb, J...	ORPHA:968
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Pectus carinatum, Toe syndactyly, Abnormal epiphysis morphology, A...	ORPHA:3082
Microphthalmia With Limb Anomalies	Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, Blepharophimosis, High palate, 2...	OMIM:206920
Aase-Smith Syndrome	Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Abnormal hip bone morp...	ORPHA:916
Dislocation Of The Hip-Dysmorphism Syndrome	Wide nasal bridge, Congenital hip dislocation, Deviation of finger, Narrow mouth, Malar flattenin...	ORPHA:2412
Frontonasal Dysplasia 1	Wide nasal bridge, Hypoplasia of the maxilla, Joint contracture of the hand, Clinodactyly, Radial...	OMIM:136760
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Hennekam Syndrome	Wide nasal bridge, Abnormal oral mucosa morphology, Narrow chest, Delayed eruption of teeth, Retr...	ORPHA:2136
Achondrogenesis Type 1B	Narrow chest, Abnormal enchondral ossification, Long philtrum, Micromelia, Abnormal rib morpholog...	ORPHA:93298
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Dentinogenesis imperfecta, Pectus carinatum, Recurrent fractures, Bowing of limbs ...	OMIM:259440
Congenital Amegakaryocytic Thrombocytopenia	Abnormal form of the vertebral bodies, Abnormal hemoglobin, Decreased skull ossification, Short n...	ORPHA:3319
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Open mouth, Epicanthus, Pes planus, Everted lower lip vermilion, Large...	ORPHA:192
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Abnormal vertebral morphology, Limitation of joint mobility, Abnormal joint...	ORPHA:1427
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Pes planus, Medi...	OMIM:251450
Van Maldergem Syndrome 1	Clinodactyly, Cutaneous finger syndactyly, Micrognathia, Irregular dentition, Epicanthus, Talipes...	OMIM:601390
Osteogenesis Imperfecta, Type Xviii	Femoral bowing, Micrognathia, Joint hypermobility, Bowing of the long bones, Thin bony cortex, Ge...	OMIM:617952
Proteus Syndrome	Mandibular hyperostosis, Hypertrophy of skin of soles, Facial hyperostosis, Splenomegaly, Thin bo...	OMIM:176920
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti...	ORPHA:2634
Geroderma Osteodysplasticum	Periodontitis, Beaking of vertebral bodies, Irregular vertebral endplates, Hyperextensibility of ...	OMIM:231070
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Foot oligodactyly, Amelia, Short femur	OMIM:601357
Hypomagnesemia 3, Renal	Rickets, Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypo...	OMIM:248250
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A...	ORPHA:86841
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the dentition, Short 5th metacarpal, Oligodontia, Abnormality of the hand, Brachyd...	ORPHA:1264
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Deviation of finger, Abnormal form of the vertebral bodies, Genu valgum, Deformed hum...	ORPHA:2831
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Broad thumb, Difficulty walking, Arachnodactyly, Ataxia, Thoracic kyphoscoliosis, High palate, Hi...	ORPHA:481152
Fibrochondrogenesis 1	Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Small hand, Broad long bones, Nar...	OMIM:228520
Hypochondroplasia	Abnormal pelvic girdle bone morphology, Micromelia, Short toe, Abnormal femur morphology, Joint h...	ORPHA:429
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow chest, Cleft lip, Natal tooth, Short tibia, Preaxial polydactyly, Hamartoma of tongue, Mic...	OMIM:617925
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Broad thumb, Broad foot, Epicanthus, Short neck, Pes planus, Radial head su...	OMIM:615777
Fatco Syndrome	Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology...	ORPHA:2492
Chime Syndrome	Acute leukemia, Epicanthus, Short foot, Hip dislocation, Aplasia/Hypoplasia of the phalanges of t...	ORPHA:3474
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Postaxial foot polydactyly, Retrognathia, Downslanted palpebral fissures, Talipes equinovalgus, T...	OMIM:301056
Van Den Ende-Gupta Syndrome	Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Long metacarpals, Long hallux, Mi...	OMIM:600920
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Short 5th finger, Postaxial oligodactyly, Malar flattening, Talipes equinovarus, Brachydactyly, A...	ORPHA:52056
Hall-Riggs Syndrome	Platyspondyly, Kyphosis, Failure to thrive, Thick lower lip vermilion, Hypoplasia of the primary ...	OMIM:234250
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Overlapping fingers, Radioulnar synostosis, Limited pronation/supination of f...	OMIM:616738
Aarskog-Scott Syndrome	Cervical spine hypermobility, Hypoplasia of the odontoid process, Clinodactyly, Broad foot, Short...	OMIM:305400
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Pes cavus, Distal lower limb muscle weakness, Steppage gait, Hypercholesterolemi...	ORPHA:94124
Rothmund-Thomson Syndrome, Type 2	Small hand, Micrognathia, Sparse eyelashes, Absent eyelashes, Epicanthus, Talipes equinovarus, Ab...	OMIM:268400
Eiken Syndrome	Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Decreased body weight, Mu...	OMIM:600002
Trisomy 4P	Abnormality of the dentition, Carious teeth, Camptodactyly of finger, Radial club hand, Preaxial ...	ORPHA:1738
Hypercholanemia, Familial 1	Rickets, Increased serum bile acid concentration	OMIM:607748
Cranioectodermal Dysplasia	Abnormality of the dentition, Short distal phalanx of finger, Rhizomelia, Narrow chest, Finger sy...	ORPHA:1515
Stickler Syndrome Type 1	Platyspondyly, Hypoplasia of the maxilla, Abnormal epiphysis morphology, Long philtrum, Abnormal ...	ORPHA:90653
Tyrosinemia Type 1	Rickets of the lower limbs, Splenomegaly	ORPHA:882
48,Xxyy Syndrome	Carious teeth, Elbow dislocation, Open bite, Talipes, Epicanthus, Radioulnar synostosis, Pes plan...	ORPHA:10
Frontometaphyseal Dysplasia 1	Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e...	OMIM:305620
Congenital Disorder Of Glycosylation, Type Iio	Downslanted palpebral fissures, Hepatosplenomegaly, Increased LDL cholesterol concentration, Sple...	OMIM:616828
Juberg-Hayward Syndrome	Abnormal vertebral morphology, Highly arched eyebrow, Toe syndactyly, Short thumb, Abnormal eyebr...	ORPHA:2319
Brachycephaly, Trichomegaly, And Developmental Delay	Bifid uvula, Highly arched eyebrow, Prominent fingertip pads, Thick lower lip vermilion, Long eye...	OMIM:617412
Malaria	Gait imbalance, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, Thromb...	ORPHA:673
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Abnormal pelvic girdle bone morphology, Shoulder girdle muscle weakness, Lumbar hyperlordosis, El...	OMIM:167320
Jackson-Weiss Syndrome	Hypoplasia of the maxilla, Toe syndactyly, Preaxial foot polydactyly, Split foot, Abnormal palate...	ORPHA:1540
Distal Myopathy, Tateyama Type	Calf muscle hypoplasia, Abnormal circulating creatine kinase concentration, Pes cavus, Intrinsic ...	ORPHA:488650
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal form of the vertebral bodies, Downslanted palpebral fissures,...	ORPHA:2050
Congenital Erythropoietic Porphyria	Reduced haptoglobin level, Increased connective tissue, Keratoconjunctivitis, Poikilocytosis, Unc...	ORPHA:79277
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Carious teeth, Retrognathia, Downslanted palpebral fissures, Malar flattening, Abnormal palate mo...	ORPHA:1390
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Shprintzen-Goldberg Craniosynostosis Syndrome	Thin ribs, Joint contracture of the hand, Micrognathia, Genu valgum, Arachnodactyly, Talipes equi...	OMIM:182212
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Ataxia, Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Dy...	OMIM:301310
Oculodentodigital Dysplasia, Autosomal Recessive	Fifth finger distal phalanx clinodactyly, Small hand, Broad long bones, Micrognathia, Narrow mout...	OMIM:257850
Van Maldergem Syndrome 2	Clinodactyly, Cutaneous finger syndactyly, Micrognathia, Irregular dentition, Epicanthus, Talipes...	OMIM:615546
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Platyspondyly, Radial bowing, Micromelia, Preaxial polydactyly, Thoracic hypoplasia, Vertebral we...	OMIM:617866
Schimke Immuno-Osseous Dysplasia	Platyspondyly, Shallow acetabular fossae, Abnormal proportion of naive CD4 T cells, Failure to th...	ORPHA:1830
Glycogen Storage Disease Vi	Failure to thrive in infancy, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia	OMIM:232700
Dent Disease	Delayed epiphyseal ossification, Renal hypophosphatemia, Rickets, Bulging epiphyses, Osteomalacia...	ORPHA:1652
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome...	OMIM:616860
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Velopharyngeal insufficiency, Clinodactyly of the 2nd finger, Micrognathia, Pes planus, Diaphysea...	OMIM:620663
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Schimke Immunoosseous Dysplasia	Wide nasal bridge, Osteopenia, Platyspondyly, Shallow acetabular fossae, Hypoplasia of the capita...	OMIM:242900
Premature Aging Syndrome, Penttinen Type	Thin ribs, Delayed cranial suture closure, Micrognathia, Flexion contracture of finger, Short foo...	OMIM:601812
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Scoliosis, Clinodactyly, Gen...	OMIM:184250
Multiple Synostoses Syndrome 1	Carpal synostosis, Thick upper lip vermilion, Cutaneous finger syndactyly, Proximal/middle sympha...	OMIM:186500
Bile Acid Conjugation Defect 1	Rickets, Conjugated hyperbilirubinemia	OMIM:619232
Cartilage-Hair Hypoplasia	Hypoplasia of the odontoid process, Lymphopenia, Sparse eyelashes, Narrow vertebral interpedicula...	OMIM:250250
Thrombocytopenia, Paris-Trousseau Type	Clinodactyly, Radial deviation of finger, Micrognathia, Ptosis, Thrombocytopenia	OMIM:188025
Mandibuloacral Dysplasia With Type B Lipodystrophy	Delayed cranial suture closure, Generalized lipodystrophy, Micrognathia, Narrow mouth, Loss of su...	OMIM:608612
Keipert Syndrome	Short distal phalanx of finger, Hypoplasia of the maxilla, Broad thumb, Broad distal phalanx of f...	ORPHA:2662
Congenital Generalized Lipodystrophy	Failure to thrive, Long foot, Bone cyst, Adipose tissue loss, Lipodystrophy, Hypercholesterolemia...	ORPHA:528
Multiple Pterygium Syndrome, Escobar Variant	Intercrural pterygium, Talipes calcaneovalgus, Micrognathia, Narrow mouth, Dysplastic patella, Pa...	OMIM:265000
Camptodactyly Syndrome, Guadalajara Type 1	Toe syndactyly, Open bite, Narrow mouth, Epicanthus, Blepharophimosis, High palate, Short nose, P...	ORPHA:1327
Takenouchi-Kosaki Syndrome	Clinodactyly, Overlapping toe, Ataxia, Sparse eyebrow, Downturned corners of mouth, Downslanted p...	OMIM:616737
Prader-Willi Syndrome	Small hand, Carious teeth, Clinodactyly, Genu valgum, Narrow palm, Short foot, Syndactyly, Osteop...	OMIM:176270
Nager Syndrome	Sparse lower eyelashes, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Hypoplasia o...	ORPHA:245
Braddock-Carey Syndrome 2	Retrognathia, Clinodactyly, Downslanted palpebral fissures, Thrombocytopenia, Wide mouth, Cleft p...	OMIM:619981
Chondrodysplasia With Joint Dislocations, Gpapp Type	Micrognathia, Narrow mouth, Genu valgum, Intervertebral space narrowing, Radial head subluxation,...	OMIM:614078
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Wide nasal bridge, Platelet anisocytosis, Horizontal eyebrow, Umbilical hernia, Long eyelashes, W...	OMIM:620475
Trichothiodystrophy	Carious teeth, Epicanthus, Neutropenia, Clubbing, High, narrow palate, Osteopenia, Joint dislocat...	ORPHA:33364
Ophthalmomandibulomelic Dysplasia	Radioulnar dislocation, Radial bowing, Lateral humeral condyle aplasia, Elbow dislocation, Tempor...	OMIM:164900
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets, Hepatosplenomegaly, Reticulocytosis, Hypokalemia, Short stature, Decreased mean corpuscu...	OMIM:611590
Laurin-Sandrow Syndrome	Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Mirror image polydactyly, Preaxi...	ORPHA:2378
Occipital Horn Syndrome	Synostosis of joints, Osteomalacia, Delayed cranial suture closure, Humerus varus, Genu valgum, P...	ORPHA:198
Autosomal Recessive Distal Osteolysis Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Short distal phalanx of finger, Osteolysis	ORPHA:2776
Isolated Agammaglobulinemia	Cellulitis, Failure to thrive, Abnormal lymphocyte morphology, Clinodactyly of the 5th toe, Throm...	ORPHA:229717
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Equinovarus deformity, Short femoral neck, Flared metaphysis, Short palm, Broad foot, Aplasia/Hyp...	ORPHA:2502
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Downslanted palpebral fissures, Dislocated r...	OMIM:602471
Schneckenbecken Dysplasia	Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,...	OMIM:269250
Malan Syndrome	Retrognathia, Downslanted palpebral fissures, Gingival overgrowth, Narrow mouth, Hyperplasia of t...	OMIM:614753
Bone Marrow Failure Syndrome 3	Aplastic anemia, Persistence of hemoglobin F, Pancytopenia, Micrognathia, Oral ulcer, Hernia, Epi...	OMIM:617052
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Fibular hypoplasia, Ta...	OMIM:227270
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism	Carious teeth, Generalized hypoplasia of dental enamel, Telecanthus, Cutaneous finger syndactyly,...	OMIM:203550
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th...	ORPHA:508533
Diamond-Blackfan Anemia 21	Micrognathia, Narrow mouth, Genu valgum, Pes planus, Clinodactyly of the thumb, Short toe, Downsl...	OMIM:620072
Osteogenesis Imperfecta	Thin ribs, Carious teeth, Abnormal tibia morphology, Enlarged vertebral pedicles, Micrognathia, G...	ORPHA:666
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Abnormal thorax morphology, Metaphyseal chondrodysplasia, Hypoplasia of the thymus	OMIM:200900
Odontochondrodysplasia	Platyspondyly, Dentinogenesis imperfecta, Narrow chest, Cone-shaped epiphysis, Square pelvis bone...	ORPHA:166272
Meier-Gorlin Syndrome 1	Thin ribs, Joint contracture of the hand, Small hand, Elbow dislocation, Cutaneous finger syndact...	OMIM:224690
Osteopetrosis With Renal Tubular Acidosis	Bone marrow hypocellularity, Pancytopenia, Micrognathia, Leukopenia, Hypocalcemia, Elevated circu...	ORPHA:2785
Antley-Bixler Syndrome	Narrow chest, Hypoplasia of the zygomatic bone, Long philtrum, Downslanted palpebral fissures, De...	ORPHA:83
Immunodeficiency 114, Folate-Responsive	Carious teeth, Increased circulating ferritin concentration, Lymphopenia, Lip fissure, Aphthous u...	OMIM:620603
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Narrow mouth, Arachnodactyly, Talipes equinovarus, Ulnar deviation of finger, ...	ORPHA:2215
Pseudohypoparathyroidism Type 2	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:94090
Bruck Syndrome 2	Osteopenia, Elbow flexion contracture, Femoral bowing, Increased susceptibility to fractures, Kne...	OMIM:609220
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Pes cavus, Steppage gait, Hypercholesterolemia, Ataxia	OMIM:607250
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Splenomegaly, Increased serum bile...	OMIM:619868
Achondrogenesis Type 1A	Narrow chest, Abnormal enchondral ossification, Long philtrum, Micromelia, Umbilical hernia, Micr...	ORPHA:93299
Anauxetic Dysplasia 3	Broad middle phalanx of finger, Platyspondyly, Metaphyseal cupping, Narrow chest, Retrognathia, S...	OMIM:618853
Genetic Recurrent Myoglobinuria	Proximal muscle weakness in upper limbs, Hyperphosphatemia, Difficulty walking, Hypocalcemia, Hyp...	ORPHA:99845
Marshall Syndrome	Radial bowing, Thick upper lip vermilion, Micrognathia, Absent frontal sinuses, Epicanthus, Knee ...	OMIM:154780
Pyknoachondrogenesis	Abnormal intramembranous ossification, Craniofacial hyperostosis, Short iliac bones, Micromelia, ...	ORPHA:3003
Hypertriglyceridemia 2	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:619324
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi...	OMIM:603552
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Anemia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:614082
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Hepatosplenomegaly, Micrognathi...	OMIM:274000
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level	OMIM:601198
Congenital Dyserythropoietic Anemia Type Iii	Gingival bleeding, Increased circulating iron concentration, Increased mean corpuscular volume, I...	ORPHA:98870
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Wide nasal bridge, Sandal gap, Abnormal form of the vertebral bodies, Abnormal dental enamel morp...	ORPHA:2180
Alpha-Mannosidosis	Synostosis of joints, Craniofacial hyperostosis, Scoliosis, Dental malocclusion, Widely spaced te...	ORPHA:61
Spondylometaphyseal Dysplasia, Axial	Platyspondyly, Rhizomelia, Narrow chest, Thoracic hypoplasia, Proximal femoral metaphyseal irregu...	OMIM:602271
Multiple Osteochondromas	Rib exostoses, Limitation of joint mobility, Abnormal tibia morphology, Abnormal hand morphology,...	ORPHA:321
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Thin ribs, Platyspondyly, Multiple joint dislocation, Short femoral neck, Knee dislocation, Obesi...	OMIM:618395
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Aplasia/hypoplasia involving bones of the extremities, Abnormal vertebral morphology, Platyspondy...	ORPHA:93346
Fgfr2-Related Bent Bone Dysplasia	Incomplete ossification of pubis, Osteopenia, Coronal craniosynostosis, Natal tooth, Extramedulla...	ORPHA:313855
Osteogenesis Imperfecta, Type Iii	Thin ribs, Dentinogenesis imperfecta, Slender long bone, Micrognathia, Recurrent fractures, Bowin...	OMIM:259420
8Q22.1 Microdeletion Syndrome	Wide nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Sparse eyebrow, Highl...	ORPHA:178303
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:618883
Shox-Related Short Stature	Obesity, Genu valgum, Micrognathia, Ulnar radial head dislocation, Madelung deformity, Tibial bow...	ORPHA:314795
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Multiple rows of eyelashes, Broad long bones, Thick upper lip vermilion, Abnormal metatarsal morp...	ORPHA:163654
Pentasomy X	Wide nasal bridge, Small hand, Camptodactyly of finger, Micrognathia, Upslanted palpebral fissure...	ORPHA:11
Infantile Systemic Hyalinosis	Severe short stature, Osteopenia, Micromelia, Camptodactyly of finger, Osteomalacia, Joint stiffn...	ORPHA:2176
Calvarial Doughnut Lesions With Bone Fragility	Severe short stature, Osteopenia, Femoral bowing, Osteoporosis, Recurrent fractures	OMIM:126550
Heart Defects-Limb Shortening Syndrome	Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shortening, Abnorm...	ORPHA:1354
Lipodystrophy, Congenital Generalized, Type 3	Generalized lipodystrophy, Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Reduced subcutaneous a...	OMIM:612526
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Abnormal vertebral morphology, Craniofacial osteosclerosis, Abnormal epiphysis morphology, Osteom...	ORPHA:324964
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Cleft mandible, Everted lower lip vermilion, Short nose, Pierre-Robin sequence, Abnormality of ca...	ORPHA:364577
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Flattened femoral head, Aplasia/hypoplasia involving bones of the extremities, Platyspondyly, Art...	ORPHA:1856
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Talipes equinovarus, Cone-shaped epiphysis, Thoracic hypoplasia, Hamartoma of tongue, Femoral bow...	OMIM:613091
Osteosarcoma	Abnormal femoral metaphysis morphology, Pathologic fracture, Abnormal tibial metaphysis morpholog...	ORPHA:668
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing...	ORPHA:93315
Spondyloepiphyseal Dysplasia, Maroteaux Type	Genu valgum, Pes planus, Short stature, Generalized osteoporosis, Small joint hypermobilty, Short...	OMIM:184095
Coronary Artery Disease, Autosomal Dominant, 1	Obesity, Hypercholesterolemia	OMIM:608320
Proteasome-Associated Autoinflammatory Syndrome 3	Finger swelling, Failure to thrive, Lymphopenia, Splenomegaly, Hypertriglyceridemia, Lipodystroph...	OMIM:617591
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia, Growth delay, Rickets	OMIM:602722
Moebius Syndrome	Finger syndactyly, Micrognathia, Open mouth, Epicanthus, Talipes equinovarus, Aplasia/Hypoplasia ...	ORPHA:570
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Foxp1 Syndrome	Decreased circulating iron concentration, Downturned corners of mouth, Retrognathia, Downslanted ...	ORPHA:391372
Gaucher Disease Type 1	Gingival bleeding, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Elevated circulating CCL18 le...	ORPHA:77259
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin...	ORPHA:94093
Cousin Syndrome	Joint contracture of the hand, Hypoplastic scapulae, Hypoplastic iliac wing, Dislocation of the f...	OMIM:260660
Rubinstein-Taybi Syndrome 2	Narrow palate, Highly arched eyebrow, Carious teeth, Dental malocclusion, Retrognathia, Broad thu...	OMIM:613684
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Micrognathia, Genu valgum, Decreased body...	OMIM:271640
Jeune Syndrome	Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Finger syndactyly, Talipes calcaneovalgus, Micrognathia, Congenital d...	ORPHA:818
Codas Syndrome	Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology...	ORPHA:1458
Saul-Wilson Syndrome	Platyspondyly, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of ...	OMIM:618150
Moebius Syndrome	Hand clenching, Clinodactyly, Congenital fibrosis of extraocular muscles, Micrognathia, Lower lim...	OMIM:157900
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Wide nasal bridge, Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Narrow ch...	OMIM:617102
Renpenning Syndrome	High, narrow palate, Macrodontia, Thin eyebrow, Joint stiffness, Narrow mouth, Malar flattening, ...	ORPHA:3242
Shprintzen-Goldberg Syndrome	Elbow dislocation, Micrognathia, Genu valgum, Arachnodactyly, Bowing of the long bones, Pes planu...	ORPHA:2462
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Limb ataxia, Gait ataxia, Pes cavus, Elevated circulating creatine kinase concen...	OMIM:208920
Osteogenesis Imperfecta, Type Xvi	Platyspondyly, Osteopenia, Rhizomelia, Microretrognathia, Narrow chest, Tooth agenesis, Recurrent...	OMIM:616229
Aredyld Syndrome	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal dental enamel morphol...	ORPHA:1133
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Rickets, Splenomegaly, Short stature, Conjugated hyperbilirubinemia	OMIM:211600
Lujan-Fryns Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Camptodactyly of finger...	ORPHA:776
Intellectual Disability, Buenos-Aires Type	Wide nasal bridge, Pectus carinatum, Abnormal pelvic girdle bone morphology, Cuboid-shaped thorac...	ORPHA:3079
Nance-Horan Syndrome	Abnormality of the dentition, Supernumerary tooth, Mandibular prognathia, Short metacarpal	ORPHA:627
Mccune-Albright Syndrome	Abnormal facial skeleton morphology, Dental malocclusion, Aneurysmal bone cyst, Increased circula...	ORPHA:562
Overlap Myositis	Proximal muscle weakness in upper limbs, Rheumatoid arthritis, Finger swelling, Abnormal circulat...	ORPHA:206572
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thin ribs, Severe limb shortening, Radial bowing, Short neck, Flat acetabular roof, Hypoplastic i...	OMIM:151210
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Broad clavicles, Delayed eruption of teeth, Rhizomelic arm shortening, Lymphopenia, Leukopenia, G...	ORPHA:508542
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Wide nasal bridge, Hypoplasia of the maxilla, Inability to walk, Flexion contracture, 2-3 toe syn...	OMIM:218000
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Failure to thrive, Elevated circulating propionylcarnitine concentration, Micrognathia, Bell-shap...	OMIM:614857
Aplasia Cutis Congenita	Abnormality of bone mineral density, Toe syndactyly, Finger syndactyly	ORPHA:1114
Diamond-Blackfan Anemia 1	Persistence of hemoglobin F, Delayed cranial suture closure, Micrognathia, Epicanthus, Short neck...	OMIM:105650
Mesomelic Dysplasia, Kantaputra Type	Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Abnormal rib mor...	ORPHA:1836
Orofaciodigital Syndrome Iii	Bifid uvula, Postaxial foot polydactyly, Kyphosis, Microdontia, Short sternum, Postaxial hand pol...	OMIM:258850
Noonan Syndrome 12	Spinal canal stenosis, Lymphopenia, 11 pairs of ribs, Thrombocytopenia, Pectus excavatum, Proxima...	OMIM:618624
Kagami-Ogata Syndrome	Thin ribs, Hypoplasia of the maxilla, Short palpebral fissure, Retrognathia, Long philtrum, Micro...	OMIM:608149
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Neutropen...	OMIM:271510
Brachytelephalangic Chondrodysplasia Punctata	Hypoplastic cervical vertebrae, Abnormality of the costochondral junction, Stippling of the epiph...	ORPHA:79345
Hypophosphatasia, Infantile	Platyspondyly, Abnormality of the dentition, Unossified vertebral bodies, Metaphyseal cupping, Ra...	OMIM:241500
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Overlapping toe, Micrognathia, Epicanthus, Talipes equinovarus, Pes planus, Sprengel anomaly, Sho...	OMIM:213980
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Obesity, Hyperc...	OMIM:615703
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Bcard Syndrome	Platyspondyly, Abnormality of the dentition, Osteopenia, Downturned corners of mouth, Contracture...	OMIM:612394
Thalidomide Embryopathy	Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi...	ORPHA:3312
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen...	OMIM:616000
Osteogenesis Imperfecta, Type Viii	Thin ribs, Radial bowing, Barrel-shaped chest, Decreased skull ossification, Multiple prenatal fr...	OMIM:610915
Hoxha-Aliu Syndrome	Abnormal vertebral morphology, Overlapping toe, Absent fifth metatarsal, Broad foot, Epicanthus, ...	OMIM:620662
3Mc Syndrome 2	Wide nasal bridge, Highly arched eyebrow, Abnormal vertebral morphology, Caudal appendage, Downtu...	OMIM:265050
Smith-Kingsmore Syndrome	Short distal phalanx of finger, Rhizomelia, Deep plantar creases, Long philtrum, Downslanted palp...	OMIM:616638
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen...	OMIM:607616
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Rhizomelia, Thrombocytopenia	OMIM:166990
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets, Osteomalacia, Hypophosphatemia, Short stature, Recurrent fractures	OMIM:613388
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Clinodactyly, Failure to thrive, Lipodystrophy, Brachydac...	OMIM:618048
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Blue Diaper Syndrome	Increased body weight, Hypercalcemia, Hyperphosphatemia	ORPHA:94086
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Microretrognathia, Aplasia/Hypoplasia of ...	ORPHA:1788
Pfeiffer Syndrome	Wide nasal bridge, Broad thumb, Synostosis of carpal bones, Hypoplasia of the zygomatic bone, Fin...	ORPHA:710
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania...	OMIM:268310
Osteogenesis Imperfecta, Type Xii	Generalized osteoporosis, Dentinogenesis imperfecta, Pectus carinatum, Hypermobility of interphal...	OMIM:613849
Refractory Celiac Disease	Normocytic anemia, Hypoalbuminemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology...	ORPHA:398063
Congenital Disorder Of Glycosylation, Type Iil	Retrognathia, Failure to thrive, Pancytopenia, Splenomegaly, Elevated circulating creatine kinase...	OMIM:614576
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Broad-based gait, Clinodactyly, Micrognathia, Narrow mouth, Decreased body weight, Epicanthus, Sh...	ORPHA:391408
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Ectopic accessory finger-like appendage, Postaxial foot polydac...	ORPHA:2919
Folate Malabsorption, Hereditary	Ataxia, Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Oral ulcer, Neutro...	OMIM:229050
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Micrognathia, Decreased body weight, Talipes equinovarus, Large hands, High palate, Short foot, T...	OMIM:300534
Patella Aplasia-Hypoplasia	Patellar aplasia, Patellar hypoplasia	OMIM:168860
Rhizomelic Chondrodysplasia Punctata, Type 5	Broad-based gait, Metaphyseal cupping, Contractures of the large joints, Short femoral neck, Pes ...	OMIM:616716
Desbuquois Syndrome	Genu recurvatum, Small hand, Scoliosis, Elbow dislocation, Camptodactyly of finger, Clinodactyly ...	ORPHA:1425
Calciphylaxis	Cellulitis, Ectopic ossification, Hyperphosphatemia	ORPHA:280062
12Q14 Microdeletion Syndrome	Abnormality of the spleen, Intrauterine growth retardation, Micrognathia, Short stature, Clinodac...	ORPHA:94063
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Downslanted palpebral fissures, Elliptocytosis, Malar flattening, Thick vermilion border, Thin ve...	ORPHA:86818
Craniosynostosis 2	Unicoronal synostosis, Cleft soft palate, Bicoronal synostosis, Wormian bones, Triphalangeal thum...	OMIM:604757
Aspartylglucosaminuria	Abnormal vertebral morphology, Carious teeth, Pes planus, Beaking of vertebral bodies, Anterior b...	ORPHA:93
Cenani-Lenz Syndactyly Syndrome	Broad hallux, Downslanted palpebral fissures, Micrognathia, Malar flattening, Hypodontia, Radioul...	OMIM:212780
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Lymphopenia, Pancytopenia, Micrognathia, Open mouth, Epicanthus, High palate, Syndactyly, Pectus ...	OMIM:620654
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Wide nasal bridge, Hypoplasia of the zygomatic bone, Downslanted palpebral fissures, Umbilical he...	ORPHA:1778
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Pfeiffer Syndrome	Coronal craniosynostosis, Hypoplasia of the maxilla, Broad thumb, Dental crowding, Finger syndact...	OMIM:101600
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Overlapping toe, Epicanthus, Carpal bone hypoplasia, Short neck, Thoracolumbar scoliosis, Short m...	OMIM:616723
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Coarse metaphyseal trabecularization, Flared metaphysis, Thickened cortex of long bones, Hip dysp...	OMIM:620558
Bent Bone Dysplasia Syndrome 1	Coronal craniosynostosis, Natal tooth, Hepatosplenomegaly, Micrognathia, Gingival overgrowth, Mal...	OMIM:614592
Mucolipidosis Iii Alpha/Beta	Increased serum beta-hexosaminidase, Shallow acetabular fossae, Limitation of joint mobility, Bro...	OMIM:252600
Ataxia-Pancytopenia Syndrome	Ataxia, Acute myelomonocytic leukemia, Pancytopenia, Dysmetria, Ankle clonus, Thrombocytopenia, N...	OMIM:159550
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Limitation of joint mobility, Hypoplasia of the zygomatic bone, Downslanted palpeb...	ORPHA:3145
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Joint stiffness, Abnormal morphology of ulna, Hand polydactyly,...	ORPHA:2167
Cardiofaciocutaneous Syndrome	Genu valgum, Epicanthus, Short neck, High palate, Short nose, Palmoplantar keratoderma, Downslant...	ORPHA:1340
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the uvula...	ORPHA:84
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Splen...	OMIM:210250
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Clinodactyly, Flexion contracture, Epicanthus, Syndactyly, Osteolysis involving bones of the uppe...	ORPHA:88630
Stüve-Wiedemann Syndrome	Osteopenia, Absent patellar reflexes, Limitation of joint mobility, Micromelia, Camptodactyly of ...	ORPHA:3206
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Short neck, ...	OMIM:250220
Beta-Thalassemia Major	Abnormality of the dentition, Abnormality of iron homeostasis, Reduced hemoglobin A, Hyperplasia ...	ORPHA:231214
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nasal bridge, Hypoplasia of the maxilla, Sparse eyebrow, Ectopic lacrimal punctum, Telecanth...	OMIM:167730
Cantú Syndrome	Finger syndactyly, Epicanthus, Short neck, Short hallux, Ovoid vertebral bodies, Long eyelashes, ...	ORPHA:1517
Pachydermoperiostosis	Small hand, Clubbing of toes, Abnormal epiphysis morphology, Palmoplantar keratoderma, Limitation...	ORPHA:2796
Chondrodysplasia-Difference Of Sex Development Syndrome	Severe short stature, Abnormal pelvic girdle bone morphology, Micromelia, Increased skull ossific...	ORPHA:1422
Hajdu-Cheney Syndrome	Periodontitis, Open bite, Micrognathia, Narrow mouth, Decreased skull ossification, Absent fronta...	ORPHA:955
Cog4-Cdg	Failure to thrive in infancy, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Ataxia	ORPHA:263501
Distal Xq28 Microduplication Syndrome	Hypoplasia of the maxilla, Neonatal hyperbilirubinemia, Dental crowding, Tip-toe gait, Clinodacty...	ORPHA:293939
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ...	OMIM:609441
Atelis Syndrome 1	Carious teeth, Long philtrum, Downslanted palpebral fissures, Leukopenia, Lumbar kyphosis, Thromb...	OMIM:620184
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Pathologic fracture, Elevated circulating creatinine concentration, Hypocalcemia, H...	OMIM:179800
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Hip dislocation, Shallow acetabular fossae, Aplastic anemia, Radial bowing, Ulnar bowing, Limited...	OMIM:605432
Desmosterolosis	Joint contracture of the hand, Rhizomelia, Abnormal circulating cholesterol concentration, Failur...	OMIM:602398
Neurodegeneration And Seizures Due To Copper Transport Defect	Abnormal circulating copper concentration, Short tibia, Abnormal circulating ceruloplasmin concen...	OMIM:620306
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Pectus carinatum, Toe syndactyly, Long philtrum, Umbilical hernia, Obesity, Micrognathia, Malar f...	ORPHA:171839
48,Xyyy Syndrome	Long philtrum, Thick lower lip vermilion, Dislocated radial head, Abnormal foot morphology, Epica...	ORPHA:99329
Hallermann-Streiff Syndrome	High, narrow palate, Abnormality of the dentition, Sparse eyebrow, Small hand, Natal tooth, Rib e...	ORPHA:2108
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Osteopathia striata, Genu valgum, Bro...	ORPHA:93357
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated...	OMIM:205950
Hyperparathyroidism, Neonatal Severe	Narrow chest, Failure to thrive, Hypercalcemia, Splenomegaly, Hypophosphatemia, Calcinosis, Anemi...	OMIM:239200
Spastic Paraplegia 16, X-Linked	Shuffling gait, Hypoplasia of the maxilla, Short distal phalanx of finger	OMIM:300266
Myhre Syndrome	Craniofacial hyperostosis, Narrow mouth, Blepharophimosis, Mandibular prognathia, Hypoplasia of t...	ORPHA:2588
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyly, Talipes equinovaru...	OMIM:119800
Omodysplasia 2	Wide nasal bridge, Broad femoral neck, Short 1st metacarpal, Long philtrum, Limited elbow flexion...	OMIM:164745
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormality of the dentition, Carious teeth, Yellow-brown discoloration of the teeth, Interphalan...	ORPHA:69087
Cardioacrofacial Dysplasia 1	Conical tooth, Hypoplasia of the maxilla, Diastema, Genu valgum, Long thorax, Postaxial polydacty...	OMIM:619142
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o...	OMIM:252500
Alg8-Cdg	Failure to thrive, Abnormality of subcutaneous fat tissue, Hyponatremia, Talipes equinovarus, Cam...	ORPHA:79325
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Micrognathia, Epicanthus, Pes planus, Slanting of the palpebral fissure, High palate, Short nose,...	ORPHA:476126
Alg12-Cdg	Overlapping fingers, Micrognathia, Epicanthus, Talipes equinovarus, Abnormal bone ossification, T...	ORPHA:79324
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Broad-based gait, Broad thumb, Small hand, Micrognathia, Narrow mouth, Talipes equinovarus, Short...	ORPHA:251028
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Osteoarthritis of the elbow, Camptodactyly of finger, Bone cyst, Camptodactyly of toe, Knee osteo...	ORPHA:2848
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:146200
Elsahy-Waters Syndrome	Shortening of all phalanges of fingers, Cutaneous finger syndactyly, High palate, Hypoplasia of t...	OMIM:211380
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Fibular overgrowth, Disproportionate short-limb short stature, M...	OMIM:602557
Weyers Ulnar Ray/Oligodactyly Syndrome	Mesomelia, Finger aplasia, Absent thumb, Cleft upper lip, Micrognathia, Proximal radial head disl...	OMIM:602418
Werner Syndrome	Small hand, Slender build, Joint stiffness, Short stature, Osteoporosis, Rocker bottom foot, Incr...	ORPHA:902
Renal Tubular Acidosis Iii	Hypokalemia, Rickets, Osteomalacia	OMIM:267200
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Malar flattening, Abnormal pala...	ORPHA:93262
Recon Progeroid Syndrome	Dental crowding, Long thumb, Prominence of the premaxilla, Arachnodactyly, Smooth philtrum, Anemi...	OMIM:620370
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:2239
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,...	OMIM:613101
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Abnormal rib morphology, Micrognathia, Malar flattening, Brachydac...	ORPHA:2145
Lowe Oculocerebrorenal Syndrome	Joint contracture of the hand, Finger swelling, Osteomalacia, Genu valgum, Hip dislocation, Bicar...	OMIM:309000
Campomelic Dysplasia	Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Carious teeth, Hypoplastic cerv...	OMIM:114290
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, T...	OMIM:272460
Acrorenal-Mandibular Syndrome	Thin ribs, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula...	OMIM:200980
Intellectual Developmental Disorder, Autosomal Dominant 70	Wide nasal bridge, Highly arched eyebrow, Hypoplasia of the maxilla, Short palpebral fissure, Ret...	OMIM:620157
Osteogenesis Imperfecta, Type Ii	Abnormal pelvic girdle bone morphology, Disproportionate short-limb short stature, Broad long bon...	OMIM:166210
Dubowitz Syndrome	Small hand, Toe syndactyly, Broad thumb, Delayed cranial suture closure, Micrognathia, Epicanthus...	ORPHA:235
Melnick-Needles Syndrome	Tooth malposition, Hypoplastic scapulae, Delayed cranial suture closure, Micrognathia, Genu valgu...	OMIM:309350
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calc...	ORPHA:163966
Chondrodysplasia Punctata 2, X-Linked Dominant	Stippled calcification in carpal bones, Sparse eyelashes, Short neck, Patellar dislocation, Bilat...	OMIM:302960
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal vertebral morphology, Subluxation of the small joints of the hand, Micrognathia, Narrow ...	ORPHA:536471
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Genu valgum, Broad foot, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot...	OMIM:250420
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Mesomelia, Polysyndactyly of hallux, Pectus carinatum, Microglossia, Narrow chest, Platyspondyly,...	OMIM:263520
Split-Hand/Foot Malformation 3	Hypoplasia of the maxilla, Microretrognathia, Narrow mouth, Split hand, Camptodactyly, High palat...	OMIM:246560
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ...	OMIM:616959
Ritscher-Schinzel Syndrome 3	Highly arched eyebrow, Short 1st metacarpal, Downslanted palpebral fissures, Short first metatars...	OMIM:619135
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Hypoplasia of the maxilla, Clinodactyly, Camptodactyly of finger, Talipes equinovarus, High palat...	ORPHA:85279
Congenital Myopathy 22B, Severe Fetal	Thin ribs, Micrognathia, Hip contracture, Talipes, Short neck, High palate, Short nose, Spinal ri...	OMIM:620369
Oligodontia	Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l...	ORPHA:99798
Achondrogenesis, Type Ia	Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe...	OMIM:200600
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormal ilium morphology, Irregular iliac crest, Short iliac bones, Abnormality of the epiphysis...	ORPHA:93316
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Abnormal vertebral morphology, Premature osteoarthritis, Hepatos...	ORPHA:93352
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Narrow chest, Cone-shaped epiphysis, Downslanted palpebral fissures, Splenomegaly, Horizontal rib...	OMIM:617088
Acrofacial Dysostosis, Catania Type	Abnormality of the dentition, Small hand, Carious teeth, Microretrognathia, Hypoplasia of the zyg...	ORPHA:1786
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Micrognathia, Narrow mouth, Arachnodactyly, Radioulnar synostosis, Talipes equinovarus, Bowing of...	OMIM:130070
Holt-Oram Syndrome	Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Abnormal clavicle...	ORPHA:392
Nablus Mask-Like Facial Syndrome	Joint contracture of the hand, Clinodactyly, Narrow mouth, Sparse eyelashes, Absent eyelashes, Sh...	OMIM:608156
Erdheim-Chester Disease	Abnormal epiphysis morphology, Osteomyelitis, Xanthelasma, Joint swelling, Ptosis, Weight loss, A...	ORPHA:35687
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Wide nasal bridge, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the tongue, Abnor...	ORPHA:2759
Hypophosphatemic Rickets And Hyperparathyroidism	Rickets, Hypophosphatemic rickets, Hypophosphatemia, Short stature, Hypercalcemia	OMIM:612089
Cole-Carpenter Syndrome 2	Lambdoidal craniosynostosis, Dentinogenesis imperfecta, Osteopenia, Microretrognathia, Coronal cr...	OMIM:616294
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Thoracolumbar kyphosis, Platyspondyly, Hypoplasia of the capital femoral ep...	OMIM:617425
X-Linked Agammaglobulinemia	Cellulitis, Failure to thrive, Osteomyelitis, Hypocalcemia, Weight loss, Neutropenia, Sinusitis, ...	ORPHA:47
Cooper-Jabs Syndrome	Camptodactyly of finger, Umbilical hernia, Abnormal hip bone morphology, Reduced bone mineral den...	ORPHA:1488
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Neutrophilia	OMIM:617585
Rhyns Syndrome	Osteopenia, Radial bowing, Brachydactyly, Short long bone, Short stature, Osteoporosis, Short fem...	OMIM:602152
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Wide nasal bridge, Microretrognathia, Joint dislocation, Joint hypermobility, Short clavicles, Sh...	OMIM:606220
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Symphalangism of the thumb, Short toe, Clinodactyly, Broad hallux, Intrauterine growth retardatio...	OMIM:620494
Immunodeficiency 32B	Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Sinusitis, Eosinophil...	OMIM:226990
Three M Syndrome 2	Short 5th finger, Thin ribs, Pectus carinatum, Dental malocclusion, Delayed eruption of teeth, Lo...	OMIM:612921
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia, Hypokalemia, Hypophosphatemia, Short stature	OMIM:134600
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Failure to thrive, Long philtrum, Elevated circulating creatinine concentration,...	OMIM:608104
Orofaciodigital Syndrome X	Finger aplasia, Fibular aplasia, Coalescence of tarsal bones, Preaxial hand polydactyly	OMIM:165590
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges of the hand,...	ORPHA:73230
Spondyloenchondrodysplasia With Immune Dysregulation	Rheumatoid arthritis, Lymphopenia, Barrel-shaped chest, Increased intervertebral space, Neutropen...	OMIM:607944
Lathosterolosis	Toe syndactyly, Postaxial foot polydactyly, Downturned corners of mouth, Long philtrum, Downslant...	ORPHA:46059
Cranioectodermal Dysplasia 1	Clinodactyly, Anodontia, Epicanthus, Broad distal phalanges of all fingers, Everted lower lip ver...	OMIM:218330
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Failure to thrive, Thick lower lip vermilion, Broad ribs, Joint stiffness, ...	ORPHA:583
Chilton-Okur-Chung Neurodevelopmental Syndrome	Ankyloglossia, Micrognathia, Broad foot, Pes planus, Narrow palpebral fissure, Slender finger, Sp...	OMIM:619841
Congenital Disorder Of Glycosylation, Type Iif	Ataxia, Clinodactyly, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia, Macrothr...	OMIM:603585
Trichodermodysplasia-Dental Alterations Syndrome	Palmoplantar keratoderma, Sparse lateral eyebrow, Delayed eruption of teeth, Tooth agenesis, Abno...	ORPHA:3353
Dk Phocomelia Syndrome	Phocomelia, Thrombocytopenia	OMIM:223340
Hamamy Syndrome	Hypochromic anemia, Microcytic anemia, Micrognathia, Sparse eyelashes, Everted lower lip vermilio...	OMIM:611174
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Enlarged metaphyses, Micrognathia, Narrow mouth, Genu valgum, Congenital diaphragmatic hernia, Ra...	OMIM:245600
Orofacial Cleft 15	Sparse eyebrow, Palate fistula, Upslanted palpebral fissure, Single transverse palmar crease, Spa...	OMIM:616788
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Axial Mesodermal Dysplasia Spectrum	Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormality of the...	ORPHA:1834
Neonatal Hemochromatosis	Increased circulating iron concentration, Micrognathia, Blepharophimosis, Increased circulating f...	ORPHA:446
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Di...	OMIM:300863
Autosomal Recessive Omodysplasia	Mesomelia, Rhizomelia, Elbow dislocation, Long philtrum, Micromelia, Pterygium, Micrognathia, Abn...	ORPHA:93329
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Carious teeth, Thick lower lip vermilion, Abnormal palate morphology, Epicanthus, Deep philtrum, ...	ORPHA:2701
Forsythe-Wakeling Syndrome	Osteoporosis, Thrombocytopenia, Decreased body weight	OMIM:613606
Amed Syndrome, Digenic	Failure to thrive, Telecanthus, Leukopenia, Long thumb, Acute myeloid leukemia, Thrombocytopenia,...	OMIM:619151
Congenital Disorder Of Glycosylation, Type Iic	Cellulitis, Reduction of neutrophil motility, Periodontitis, Brachydactyly, Neutrophilia, Short foot	OMIM:266265
Beemer Lethal Malformation Syndrome	Wide nasal bridge, Thrombocytopenia	OMIM:209970
Hermansky-Pudlak Syndrome 2	Wide nasal bridge, Reduced natural killer cell count, Carious teeth, Periodontitis, Enlarged plat...	OMIM:608233
Fanconi Renotubular Syndrome 5	Genu valgum, Hypophosphatemia, Hypophosphatemic rickets	OMIM:618913
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Hypoplastic inferior ilia, Short metacarpal, Ovoid vertebral bodies, Femoral bowing, Tibial bowin...	OMIM:608940
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Velopharyngeal insufficiency, Radioulnar synostosis, Vertebral clefting, Short nose, Syndactyly, ...	OMIM:614701
Poems Syndrome	Polycythemia, Sclerosis of foot bone, Sclerosis of hand bone, Metaphyseal sclerosis, Sclerosis of...	ORPHA:2905
48,Xxxy Syndrome	Carious teeth, Elbow dislocation, Open bite, Epicanthus, Radioulnar synostosis, Talipes equinovar...	ORPHA:96263
Sheldon-Hall Syndrome	Wide nasal bridge, Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, Abnormal hip bone...	ORPHA:1147
Osteogenesis Imperfecta, Type Vi	Dentinogenesis imperfecta, Bowing of the arm, Increased susceptibility to fractures, Biconcave ve...	OMIM:613982
Stickler Syndrome	Open bite, Slender build, Micrognathia, Genu valgum, Arachnodactyly, Short hard palate, Epicanthu...	ORPHA:828
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Micrognathia, Bell-shaped thorax, Thick anterior alveol...	ORPHA:2839
Otopalatodigital Syndrome, Type Ii	Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia...	OMIM:304120
Craniolenticulosutural Dysplasia	Hypoplasia of the maxilla, Carious teeth, High iliac wing, Delayed eruption of teeth, Long philtr...	ORPHA:50814
Campomelic Dysplasia	Small abnormally formed scapulae, Narrow chest, Kyphosis, Tracheomalacia, 11 pairs of ribs, Micro...	ORPHA:140
Cerebrooculofacioskeletal Syndrome 1	Joint contracture of the hand, Carious teeth, Deep longitudinal plantar crease, Delayed eruption ...	OMIM:214150
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Epicanthus, Carpal bone hypoplasia, Short neck, Ataxia, Advanced ossification of carpal bones, Fl...	OMIM:610442
Orofaciodigital Syndrome I	Carious teeth, Clinodactyly, Ankyloglossia, Epicanthus, High palate, Syndactyly, Downslanted palp...	OMIM:311200
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia	OMIM:615863
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal form of the vertebral ...	ORPHA:3144
Marshall-Smith Syndrome	Atlantoaxial dislocation, Hypoplasia of the odontoid process, Irregular dentition, Prominence of ...	OMIM:602535
Autosomal Recessive Multiple Pterygium Syndrome	Limitation of joint mobility, Finger syndactyly, Micrognathia, Epicanthus, High palate, Symphalan...	ORPHA:2990
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Pectus carinatum, Hypoplasia of the maxilla, Narrow chest, Long foot, Slender build, Long palm, P...	OMIM:300676
Acrocraniofacial Dysostosis	Broad thumb, Micrognathia, Genu valgum, Ulnar deviation of finger, Short 1st metacarpal, Downslan...	ORPHA:949
Prader-Willi Syndrome Due To Imprinting Mutation	Small hand, Obesity, Narrow palm, Short foot, Abnormal ulnar metaphysis morphology	ORPHA:177910
Sclerosteosis 1	Wide nasal bridge, Tooth malposition, Abnormal pelvic girdle bone morphology, Broad clavicles, De...	OMIM:269500
Rubinstein-Taybi Syndrome	Carious teeth, Broad thumb, Finger syndactyly, Micrognathia, Epicanthus, High palate, Atypical sc...	ORPHA:783
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap...	OMIM:276820
Ivic Syndrome	Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Joint stif...	ORPHA:2307
Dentinogenesis Imperfecta	Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ...	ORPHA:49042
Mirage Syndrome	Scoliosis, Hyperkalemia, Radial club hand, Lymphopenia, Leukopenia, Overlapping fingers, Decrease...	OMIM:617053
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Interphalangeal joint contracture of finger, Elbow flexion contracture...	ORPHA:1145
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Carious teeth, Toe syndactyly, Finger syndactyly, Micrognathia, Bilateral single transverse palma...	ORPHA:3253
Regional Odontodysplasia	Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental...	ORPHA:83450
Osteopathia Striata With Cranial Sclerosis	Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Arachnodactyly, Epican...	OMIM:300373
Cholesteryl Ester Storage Disease	Failure to thrive, Decreased HDL cholesterol concentration, Hepatosplenomegaly, Leukopenia, Hyper...	OMIM:278000
Mannosidosis, Alpha B, Lysosomal	Abnormal rib cage morphology, Pectus carinatum, Thoracolumbar kyphosis, Widely spaced teeth, Ging...	OMIM:248500
Multiple Pterygium Syndrome, Lethal Type	Thin ribs, Joint dislocation, Short finger, Akinesia, Micrognathia, Abnormal cervical curvature, ...	OMIM:253290
Lethal Congenital Contracture Syndrome 10	Narrow chest, Long philtrum, Downslanted palpebral fissures, Stiff neck, Broad ribs, Overlapping ...	OMIM:617022
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Roberts Syndrome	Synostosis of carpal bones, Finger syndactyly, Micrognathia, Patellar aplasia, Bilateral single t...	ORPHA:3103
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda...	OMIM:617405
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Bowing of the long bones, Short metacarpal, Ovoid vertebral bodies, Hypoplastic ...	ORPHA:85167
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration...	ORPHA:158057
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Thin ribs, Narrow mouth, Arachnodactyly, Abnormal bone ossification, High palate, Osteopenia, Thi...	ORPHA:2463
Hall-Riggs Syndrome	Wide nasal bridge, Platyspondyly, Abnormal epiphysis morphology, Delayed eruption of teeth, Downt...	ORPHA:2107
Dental Anomalies And Short Stature	Platyspondyly, Hypoplasia of the maxilla, Widely spaced teeth, Herniation of intervertebral nucle...	OMIM:601216
Cornelia De Lange Syndrome 1	Micrognathia, Congenital diaphragmatic hernia, Short neck, Dislocated radial head, High palate, H...	OMIM:122470
Spondylocostal Dysostosis 3, Autosomal Recessive	Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j...	OMIM:609813
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Cleft soft palate, Micrognathia...	ORPHA:124
Bartsocas-Papas Syndrome 1	Hypoplastic scapulae, Hypoplastic iliac wing, Micrognathia, Absent eyelashes, Talipes equinovarus...	OMIM:263650
Noonan Syndrome 4	Sparse eyebrow, Dental malocclusion, Abnormal sternum morphology, Downslanted palpebral fissures,...	OMIM:610733
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Preaxial foo...	OMIM:277170
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Micrognathia, Hyperbilirubinemia, Hip contr...	OMIM:210710
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Short distal phalanx of finger, Hypoplasia of the zygomatic bone, Telecanthus, Genu valgum, Joint...	ORPHA:1295
Poikiloderma With Neutropenia	Sparse eyebrow, Carious teeth, Palmoplantar keratoderma, Retrognathia, Long philtrum, Sparse late...	OMIM:604173
Fibrochondrogenesis	Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal diaphysis morphology, Camptodactyly of f...	ORPHA:2021
Czech Dysplasia	Limitation of joint mobility, Short toe, Flat capital femoral epiphysis, Narrow iliac wing, Coxa ...	OMIM:609162
Oculofaciocardiodental Syndrome	Tooth malposition, Genu valgum, Radioulnar synostosis, Submucous cleft hard palate, Oligodontia, ...	ORPHA:2712
Leishmaniasis	Abnormal oral mucosa morphology, Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage m...	ORPHA:507
Babesiosis	Limitation of joint mobility, Leukopenia, Splenomegaly, Clinodactyly of the 5th toe, Thrombocytop...	ORPHA:108
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Clinodactyly, Overlapping toe, Sparse eyebrow, Downturned corners of mouth, Downslanted palpebral...	ORPHA:487796
8Q24.3 Microdeletion Syndrome	Talipes, Epicanthus, Short neck, Short hallux, Pes planus, Cleft maxillary alveolar ridge, Short ...	ORPHA:508488
Autosomal Dominant Omodysplasia	Rhizomelia, Short 1st metacarpal, Elbow dislocation, Long philtrum, Micrognathia, Malar flattenin...	ORPHA:93328
Autosomal Dominant Popliteal Pterygium Syndrome	Popliteal pterygium, Fibrous syngnathia, Lip pit, Ankyloblepharon, Toe syndactyly, Finger syndact...	ORPHA:1300
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Adducted thumb, Thrombocytopenia	OMIM:601815
Kinsship Syndrome	Ankyloglossia, Micrognathia, Short neck, Pes planus, Dislocated radial head, Hip dislocation, Ost...	OMIM:619297
Fanconi-Bickel Syndrome	Osteopenia, Rickets, Bowing of the long bones, Hypophosphatemia, Hypertriglyceridemia, Growth delay	ORPHA:2088
Trisomy 20P	Finger syndactyly, Micrognathia, Talipes, Epicanthus, Short neck, Hernia, Everted lower lip vermi...	ORPHA:261318
Kaposiform Lymphangiomatosis	Fractures of the long bones, Abnormal scapula morphology, Abnormal form of the vertebral bodies, ...	ORPHA:464329
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Abnormality of the vertebral column, Telecanthus, Malar flattening, Ab...	OMIM:109120
Osteogenesis Imperfecta, Type Xvii	Platyspondyly, Dentinogenesis imperfecta, Thin metacarpal cortices, Recurrent fractures, Kyphosco...	OMIM:616507
Hemorrhagic Fever-Renal Syndrome	Hyperphosphatemia, Elevated circulating creatinine concentration, Leukocytosis, Decreased body we...	ORPHA:340
Hypophosphatemic Rickets, Autosomal Recessive, 2	Carious teeth, Genu valgum, Hypophosphatemic rickets, Hypoplasia of teeth, Genu varum, Coxa valga	OMIM:613312
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u...	ORPHA:2563
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Osteopenia, Retrognathia, Recurrent shoulder dislocation, Down-sloping shoulders, Short clavicles...	OMIM:212112
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Retrognathia, Hypoplasia of the zygomatic bone, Downslanted palpebral fissures, Abnormal dental e...	ORPHA:1812
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Carious teeth, Hypoplasia of the odontoid process, Hypoplastic iliac wing, ...	OMIM:253200
Gm1-Gangliosidosis, Type Ii	Sea-blue histiocytosis, Joint stiffness, Splenomegaly, Hypoplastic vertebral bodies, Limb undergr...	OMIM:230600
Oculodentodigital Dysplasia	Carious teeth, Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Epicanthus, Short h...	ORPHA:2710
Saethre-Chotzen Syndrome	Blepharospasm, Hypoplasia of the maxilla, Broad thumb, Finger syndactyly, Abnormal form of the ve...	ORPHA:794
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Micrognathia, Joint hypermobility, Abnormal rib morphology, Pectus excavatum, Cleft palate, Hypop...	OMIM:602196
Intellectual Developmental Disorder, Autosomal Recessive 68	Wide nasal bridge, Hypoplasia of the maxilla, Broad eyebrow, Pes planus, Narrow palpebral fissure...	OMIM:618302
Williams Syndrome	Synostosis of joints, Carious teeth, Open bite, Micrognathia, Genu valgum, Epicanthus, Radioulnar...	ORPHA:904
Hemochromatosis, Type 3	Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen...	OMIM:604250
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met...	OMIM:184253
Distal Duplication 18Q	Progressive intervertebral space narrowing, Carious teeth, Deviation of finger, Camptodactyly of ...	ORPHA:1716
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Splenomegaly, Hyperammonemia, Thrombocytopenia, Neutropenia, Anemia, Choreoath...	ORPHA:79312
Thoracolaryngopelvic Dysplasia	Hypoplastic iliac wing, Slender build, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, S...	OMIM:187760
Cornelia De Lange Syndrome	Small hand, Toe syndactyly, Elbow dislocation, Micrognathia, Bilateral single transverse palmar c...	ORPHA:199
Oslam Syndrome	Carious teeth, Increased mean corpuscular volume, Radioulnar synostosis, Clinodactyly of the 5th ...	ORPHA:2760
Phaver Syndrome	Ulnar deviation of finger, Broad thumb, Short thumb, Abnormal form of the vertebral bodies, Campt...	ORPHA:2876
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Thin ribs, Retrognathia, Slender long bone, Micrognathia, Decreased calvarial ossification, Decre...	OMIM:618265
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio...	OMIM:267700
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Hypoplasia of the zygomatic bone, Long philtrum, Sandal gap, Micromelia, Broad hallux, Thick eyeb...	OMIM:614800
Hurler Syndrome	Hypoplasia of the odontoid process, Hepatosplenomegaly, Hernia, Short neck, Diaphyseal undertubul...	OMIM:607014
Multiple Pterygium Syndrome, X-Linked	Thin ribs, Joint dislocation, Cleft upper lip, Short finger, Micrognathia, Abnormal cervical curv...	OMIM:312150
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Carious teeth, Periodontitis, Failure to thrive, Xanthelasma, Gout, Hyperlipidemia, O...	ORPHA:79259
Down Syndrome	Atlantoaxial dislocation, Narrow mouth, Protruding tongue, Open mouth, Acute megakaryocytic leuke...	ORPHA:870
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Subperiosteal bone formation, Osteosclerosis of the base of the skull	OMIM:609993
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Short stature, Rickets, Recurrent fractures	OMIM:268315
16Q24.3 Microdeletion Syndrome	Highly arched eyebrow, Scoliosis, Increased mean corpuscular volume, Long philtrum, Micrognathia,...	ORPHA:261250
Gorlin Syndrome	Wide nasal bridge, Palmar pits, Abnormal vertebral morphology, Carious teeth, Plantar pits, Verte...	ORPHA:377
Acute Myelomonocytic Leukemia	Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia, Abnormality of the gingiva	ORPHA:517
Isolated Klippel-Feil Syndrome	Abnormality of the vertebral column, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusio...	ORPHA:2345
Mandibuloacral Dysplasia Progeroid Syndrome	Thin ribs, Delayed cranial suture closure, Decreased fibular diameter, Generalized lipodystrophy,...	OMIM:619127
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atlantoaxial dislocation, Carious teeth, Dysplasia of the femoral head, Micrognathia, Arachnodact...	ORPHA:536467
Temtamy Preaxial Brachydactyly Syndrome	Highly arched eyebrow, Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radioulnar synosto...	OMIM:605282
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hypoplasia of the maxilla, Broad thumb, Dental crowding, Flexion contracture, Micrognathia, Open ...	OMIM:309520
Frontometaphyseal Dysplasia	Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Micrognathia, Limi...	ORPHA:1826
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Highly arched eyebrow, Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Telecanthus, ...	ORPHA:228396
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Micromelia, Camptodactyly of f...	ORPHA:2928
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Macrocytic anemia, Aniso...	ORPHA:71275
Boomerang Dysplasia	Absent radius, Fibular aplasia, Hypoplastic iliac body	OMIM:112310
Gracile Bone Dysplasia	Thin ribs, Slender long bone, Flared metaphysis, Failure to thrive, Ankyloglossia, Hypocalcemia, ...	OMIM:602361
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Long philtrum, Ectrodactyly, Radial club hand, Abnormal dental morphology, Abnormality of the wri...	ORPHA:2878
Cystinosis	Rickets, Hypokalemia, Hypophosphatemia, Delayed puberty, Short stature	ORPHA:213
Marshall Syndrome	Wide nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Sparse eyebrow, Hypop...	ORPHA:560
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Narrow mouth, Short neck, Short nose, Downslanted palpebral fissures, Long eyelashe...	OMIM:620250
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Failure to thrive, Increased circulating ferr...	OMIM:616050
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Abnormal metaphysis morphology, Inguinal hernia, Long fibula, Anemia, Pectus excavat...	ORPHA:935
Andersen-Tawil Syndrome	Wide nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Short palpebral fissu...	ORPHA:37553
Occipital Horn Syndrome	Genu valgum, Pes planus, Decreased circulating ceruloplasmin concentration, High palate, Decrease...	OMIM:304150
Cog1-Cdg	Hepatosplenomegaly, Micrognathia, Narrow mouth, Talipes equinovarus, Short neck, High palate, Fla...	ORPHA:263508
Gaucher Disease Type 3	Pancytopenia, Increased susceptibility to fractures, Splenomegaly, Increased circulating antibody...	ORPHA:77261
21Q22.11Q22.12 Microdeletion Syndrome	Acromesomelia, Short palpebral fissure, Dental crowding, Downturned corners of mouth, Clinodactyl...	ORPHA:261323
Myhre Syndrome	Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Overlapping toe, Enlarged ver...	OMIM:139210
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom...	OMIM:619802
Mucopolysaccharidosis, Type X	Wide nasal bridge, Broad clavicles, Platyspondyly, Diastema, Long philtrum, Open bite, Widely spa...	OMIM:619698
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hyperbilirubinemia, Abnormal cortical bone morphology, Short stature, Elevated circulating long c...	OMIM:614886
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Arthrogryposis multiplex congenita, Failure to thrive, Talipes calcaneovalgus, Micrognathia, Thro...	OMIM:208085
Shwachman-Diamond Syndrome 2	Normocytic anemia, Failure to thrive, Thrombocytopenia, Neutropenia, Metaphyseal widening, Anteri...	OMIM:617941
Isolated Thyroid-Stimulating Hormone Deficiency	Neonatal hyperbilirubinemia, Abnormal epiphysis morphology, Failure to thrive, Delayed cranial su...	ORPHA:90674
Cranioectodermal Dysplasia 2	Clinodactyly, Micrognathia, Hyperbilirubinemia, Sparse eyelashes, Epicanthus, Short neck, Everted...	OMIM:613610
Aspergillosis	Abnormality of the vertebral column, Abnormal rib morphology, Osteomyelitis, Abnormal long bone m...	ORPHA:1163
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Short stature, Hypophosphatemia, Rickets, Hypouricemia	OMIM:616026
White Forelock With Malformations	Finger syndactyly, Abnormal palate morphology, Joint hypermobility, Spina bifida occulta, Epicant...	ORPHA:2475
49,Xxxxy Syndrome	Carious teeth, Elbow dislocation, Open bite, Epicanthus, Radioulnar synostosis, Talipes equinovar...	ORPHA:96264
Achondrogenesis, Type Ii	Microretrognathia, Long philtrum, Broad long bones, Short tubular bones of the hand, Hypoplastic ...	OMIM:200610
Eem Syndrome	Carious teeth, Finger syndactyly, Selective tooth agenesis, Widely spaced teeth, Ectrodactyly, Ab...	ORPHA:1897
Atelis Syndrome 2	Short palpebral fissure, Downturned corners of mouth, Diastema, Thick lower lip vermilion, Clinod...	OMIM:620185
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Pectus carinatum, Limitation of joint mobility, Downslanted palpebral ...	ORPHA:3068
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Splenomegaly, Hypertriglyceridemia	ORPHA:75234
Congenital Insensitivity To Pain With Severe Intellectual Disability	Short palpebral fissure, Talipes equinovalgus, Osteomyelitis, Micrognathia, Recurrent fractures, ...	ORPHA:453510
Xylt1-Cdg	Broad thumb, Joint dislocation, Clinodactyly, Long philtrum, Flared metaphysis, Broad ribs, Joint...	ORPHA:370930
Cleft Lip/Palate	Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg...	ORPHA:199306
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Broad-based gait, Short 5th toe, Cleft soft palate, Osteochondrosis, Ataxia, Short nose, Failure ...	ORPHA:268261
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Cystathioninemia, Failure to thrive, Elevated circulating propionylcarnitine concentration, Pancy...	OMIM:277380
Mandibulofacial Dysostosis-Microcephaly Syndrome	Hypoplasia of the maxilla, Preaxial hand polydactyly, Telecanthus, Micrognathia, Malar flattening...	ORPHA:79113
Rubinstein-Taybi Syndrome 1	Broad thumb, Delayed cranial suture closure, Hypoplastic iliac wing, Micrognathia, Narrow mouth, ...	OMIM:180849
Mucopolysaccharidosis, Type Vii	Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valgum, Epicanthus, Talipe...	OMIM:253220
Garg-Mishra Progeroid Syndrome	Thin ribs, Platyspondyly, Narrow chest, Dental crowding, Slender long bone, Persistent open anter...	OMIM:620601
Senior-Loken Syndrome 9	Polydactyly, Osteopenia, Hypoplasia of the femoral head	OMIM:616629
Acromelic Frontonasal Dysostosis	Wide nasal bridge, Short tibia, Cleft upper lip, Downslanted palpebral fissures, Patellar hypopla...	OMIM:603671
Schinzel-Giedion Midface Retraction Syndrome	Aplasia/Hypoplasia of the pubic bone, Talipes equinovarus, Short neck, Long clavicles, Splenopanc...	OMIM:269150
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hyperammonemia, Thrombocytopenia, Neutropenia, Anemia, Choreoathetosis	ORPHA:289916
Branchioskeletogenital Syndrome	Carious teeth, Short neck, Thoracolumbar kyphoscoliosis, Hypoplasia of the maxilla, Downturned co...	ORPHA:1299
Cerebrofacioarticular Syndrome	Wide nasal bridge, Osteopenia, Hypoplasia of the maxilla, Caudal appendage, Tracheomalacia, Micro...	ORPHA:314679
Meier-Gorlin Syndrome 3	Hypoplasia of the maxilla, Microretrognathia, Narrow chest, Slender long bone, Patellar hypoplasi...	OMIM:613803
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Hypoplastic scapulae, Finger syndactyly, Micrognathia, Elevated 8-dehydrocholesterol, 2-5 finger ...	OMIM:308050
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Weill-Marchesani Syndrome 1	Tooth malposition, Hypoplasia of the maxilla, Broad phalanges of the hand, Spinal canal stenosis,...	OMIM:277600
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Osteoporosis, Rickets	OMIM:560000
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Hyperammonemia, Macrocytic anemia, Thrombocytopenia, Ataxia, Anemia, Choreoathetosis	ORPHA:27
Gapo Syndrome	Asymmetry of the thorax, Sparse eyebrow, Abnormal pelvic girdle bone morphology, Abnormal clavicl...	ORPHA:2067
Gorlin-Chaudhry-Moss Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Coronal craniosynostosis, Short distal p...	ORPHA:2095
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro...	ORPHA:75564
Morgagni-Stewart-Morel Syndrome	Obesity, Hyperuricemia, Hypercholesterolemia, Osteoarthritis, Osteoporosis, Hyperostosis frontali...	ORPHA:77296
Microcephaly-Capillary Malformation Syndrome	Short distal phalanx of finger, Hypoplasia of the maxilla, Clinodactyly, Failure to thrive, Ptosi...	OMIM:614261
Microphthalmia, Syndromic 2	Hand clenching, Laterally curved eyebrow, Contracture of the proximal interphalangeal joint of th...	OMIM:300166
Distal Deletion 12Q	Overlapping toe, Micrognathia, Short neck, Large hands, High, narrow palate, Downslanted palpebra...	ORPHA:96149
Ellis-Van Creveld Syndrome	Pectus carinatum, Narrow chest, Postaxial foot polydactyly, Natal tooth, Delayed eruption of teet...	OMIM:225500
Trisomy 13	High, narrow palate, Abnormality of the dentition, Abnormal pelvic girdle bone morphology, Narrow...	ORPHA:3378
Hurler Syndrome	Wide nasal bridge, Abnormal vertebral morphology, Abnormal epiphysis morphology, Abnormal clavicl...	ORPHA:93473
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Thrombocytopenia, Leukocytosis, Anterior open-bite malocclusion	ORPHA:83601
Congenital Disorder Of Glycosylation, Type Iiaa	Narrow chest, Hyperammonemia, Knee flexion contracture, Hypercholesterolemia, Short long bone, Bi...	OMIM:620454
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Lig4 Syndrome	Wide nasal bridge, Failure to thrive, Pancytopenia, Plantar warts, Upslanted palpebral fissure, C...	OMIM:606593
Marbach-Rustad Progeroid Syndrome	Eruption failure, Micrognathia, Narrow mouth, Reduced subcutaneous adipose tissue, Delayed erupti...	OMIM:619322
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow chest, Narrow pelvis bone, Long phi...	OMIM:207410
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Highly arched eyebrow, Short palpebral fissure, Dental crowding, Kyphosis, Long eyelashes, Microg...	OMIM:619005
Dyskeratosis Congenita	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Periodontitis, Oral leuko...	ORPHA:1775
Monosomy 18P	Wide nasal bridge, Tooth malposition, Carious teeth, Downturned corners of mouth, Micrognathia, K...	ORPHA:1598
Lymphoproliferative Syndrome 1	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas...	OMIM:613011
Intellectual Developmental Disorder, Autosomal Dominant 53	Genu valgum, Joint hypermobility, Overgrowth, Growth delay, Short femur	OMIM:617798
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Barrel-shaped chest, Hernia, Epicanthus, Short neck, Short nose, Pectus carin...	ORPHA:505248
Acromesomelic Dysplasia 1	Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ...	OMIM:602875
Atypical Werner Syndrome	Limitation of joint mobility, Neoplasm of the oral cavity, Sclerosis of hand bone, Generalized li...	ORPHA:79474
Gaucher Disease	Pancytopenia, Increased circulating antibody level, Polyclonal elevation of IgM, Elevated circula...	ORPHA:355
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Periostitis, Failure to thrive in infancy, Broad ribs, Osteomyelitis, Splenomegaly, J...	OMIM:612852
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteomalacia, Micrognathia, Bilateral single transverse palmar creases, Short neck, Abnormal meta...	ORPHA:2636
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Enamel hypomineralization, Iron deficiency anemia, Neutropenia, Thrombocytopenia, Increased mean ...	ORPHA:494444
Fanconi Anemia, Complementation Group T	Short thumb, Pancytopenia, Duplication of thumb phalanx, Acute myeloid leukemia, Thrombocytopenia...	OMIM:616435
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal...	OMIM:308240
Exercise-Induced Malignant Hyperthermia	Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop...	ORPHA:466650
Thanatophoric Dysplasia, Type I	Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Platyspondyly, Thoracic hypopla...	OMIM:187600
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Long philtrum, Camptodactyly of finger, Abnormal rib morphology, Abnormal form...	ORPHA:2311
Primrose Syndrome	Genu valgum, Narrow mouth, Hip contracture, Torus palatinus, Epicanthus, Ataxia, High palate, Irr...	OMIM:259050
Ohdo Syndrome	Wide nasal bridge, Sparse eyebrow, Long philtrum, Widely spaced teeth, Abnormal foot morphology, ...	OMIM:249620
Mycetoma	Structural foot deformity, Abnormal form of the vertebral bodies, Painless fractures due to injur...	ORPHA:2583
Flat Face-Microstomia-Ear Anomaly Syndrome	Wide nasal bridge, High, narrow palate, Abnormal oral mucosa morphology, Sparse eyebrow, Highly a...	ORPHA:1968
Nance-Horan Syndrome	Diastema, Supernumerary maxillary incisor, Mulberry molar, Short phalanx of finger, Screwdriver-s...	OMIM:302350
Bile Acid Synthesis Defect, Congenital, 1	Hypocholesterolemia, Rickets, Splenomegaly, Conjugated hyperbilirubinemia	OMIM:607765
Basal Cell Nevus Syndrome 1	Palmar pits, Short distal phalanx of the thumb, Sprengel anomaly, Plantar pits, Vertebral wedging...	OMIM:109400
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia	OMIM:615008
Hyperinsulinemic Hypoglycemia, Familial, 8	Increased C-peptide level, Hypercholesterolemia, Hyperammonemia	OMIM:620211
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Broad thumb, Clinodactyly, Lymphopenia, Hepatosplenomegaly, Oral ulcer, Neutropenia, High palate,...	OMIM:612541
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Obesity, Bell-shaped thorax, Horizontal ribs, Postaxial polydac...	OMIM:615633
Nestor-Guillermo Progeria Syndrome	Thin ribs, Micrognathia, Sparse eyelashes, Limited elbow movement, Sparse eyebrow, Thin vermilion...	OMIM:614008
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Splenomegaly, Hyperuricemia, Hypertriglyceridemia	OMIM:306000
Singleton-Merten Syndrome 1	Carious teeth, Shallow acetabular fossae, Hypoplastic distal radial epiphyses, Genu valgum, Decre...	OMIM:182250
Weill-Marchesani Syndrome 2	Tooth malposition, Broad phalanges of the hand, High palate, Short metacarpal, Hypoplasia of the ...	OMIM:608328
Prolidase Deficiency	Carious teeth, Palmoplantar keratoderma, Hypoplasia of the zygomatic bone, Abnormal hip bone morp...	ORPHA:742
Cerebrocostomandibular Syndrome	Carious teeth, Cleft soft palate, Micrognathia, Bell-shaped thorax, Short hard palate, Epicanthus...	OMIM:117650
Osteogenesis Imperfecta, Type Iv	Femoral bowing present at birth, straightening with time, Increased susceptibility to fractures, ...	OMIM:166220
Glass Syndrome	Broad-based gait, Micrognathia, Narrow mouth, Arachnodactyly, Talipes equinovarus, Long nose, Hig...	OMIM:612313
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal pelvic girdle bone morphology, Slender long bone, Abnormal palate morphology, Abnormal r...	ORPHA:1506
Cyclic Neutropenia	Cellulitis, Periodontitis, Atrophy of alveolar ridges, Lymphopenia, Cyclic neutropenia, Oral ulce...	ORPHA:2686
Jacobsen Syndrome	Failure to thrive, Telecanthus, Micrognathia, Clinodactyly of the 5th finger, Eyelid coloboma, Mi...	OMIM:147791
Kaufman Oculocerebrofacial Syndrome	Carious teeth, Micrognathia, Narrow mouth, Bell-shaped thorax, Narrow palm, Epicanthus, Blepharop...	OMIM:244450
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Clinodactyly of the 5th finger, Hypoproteinemia, Bilateral single transverse palmar ...	ORPHA:1116
Codas Syndrome	Congenital hip dislocation, Absent epiphyses, Hypoplasia of the odontoid process, Scoliosis, Dela...	OMIM:600373
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Failure to thrive, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosi...	OMIM:618278
Hypercholesterolemia, Familial, 4	Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:603813
Autosomal Dominant Spondylocostal Dysostosis	Wide nasal bridge, Abnormal sacrum morphology, Abnormal rib morphology, Upslanted palpebral fissu...	ORPHA:1797
Porphyria, Congenital Erythropoietic	Osteopenia, Joint contracture of the hand, Atypical scarring of skin, Erythrodontia, Elevated cir...	OMIM:263700
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Crisponi/Cold-Induced Sweating Syndrome 1	Carious teeth, Retrognathia, Long philtrum, Radial deviation of finger, Elbow flexion contracture...	OMIM:272430
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Oral leukoplakia, Pathologic fracture, Metaphyseal sclerosis, Genu valgum, Increased ...	OMIM:612199
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Carious teeth, Downturned corners of mouth, Hypoplasia of the zygomatic bone, Downslanted palpebr...	ORPHA:1110
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Failure to thrive, Umbilical hernia, Large for gestational age, Thrombocytopenia, Neutropenia, An...	OMIM:614520
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neut...	OMIM:615285
Diamond-Blackfan Anemia 11	Finger aplasia, Absent thumb, Unilateral radial aplasia, Eyelid coloboma, Anemia of inadequate pr...	OMIM:614900
Congenital Syphilis	Periostitis, Hyperplasia of the maxilla, Extramedullary hematopoiesis, Hepatosplenomegaly, Tibial...	ORPHA:499009
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Reduced bone mineral density, Hypocalcemia, Hypomagnesemia	ORPHA:428
Meier-Gorlin Syndrome 4	Genu recurvatum, Hypoplasia of the maxilla, Slender long bone, Failure to thrive, Thick lower lip...	OMIM:613804
Monosomy 9Q22.3	Palmar pits, Plantar pits, Delayed eruption of teeth, Long philtrum, Downslanted palpebral fissur...	ORPHA:77301
Congenital Bile Acid Synthesis Defect Type 2	Rickets, Extramedullary hematopoiesis, Postnatal growth retardation, Hyperbilirubinemia, Abnormal...	ORPHA:79303
Beta-Thalassemia	Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormality of ir...	ORPHA:848
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Elbow dislocation, Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Macr...	ORPHA:2916
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Highly arched eyebrow, Retrognathia, Inability to walk, Broad eyebrow, Thrombocytopenia, Long nos...	ORPHA:457351
Wiedemann-Rautenstrauch Syndrome	Thin ribs, Natal tooth, Clinodactyly, Micrognathia, Narrow mouth, Reduced subcutaneous adipose ti...	OMIM:264090
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Absent thumb, Retrognathia, Elbow flexion contracture, Hypoplastic pelvis, ...	OMIM:618022
Lowry-Maclean Syndrome	High, narrow palate, Osteopenia, Hypoplasia of the maxilla, Widely patent coronal suture, Downtur...	ORPHA:2409
Leukocyte Adhesion Deficiency Type Ii	Microcytic anemia, Overlapping toe, Protruding tongue, Ataxia, Neutrophilia, Long eyelashes, Anem...	ORPHA:99843
Catel-Manzke Syndrome	Ulnar deviation of the 2nd finger, Micrognathia, Narrow mouth, Genu valgum, Talipes equinovarus, ...	OMIM:616145
Wrinkly Skin Syndrome	Carious teeth, Epicanthus, Pes planus, High palate, Multiple plantar creases, Progressive cerebel...	ORPHA:2834
Orofaciodigital Syndrome Type 1	Finger syndactyly, Open bite, Micrognathia, Epicanthus, Ataxia, Foot polydactyly, High palate, Ta...	ORPHA:2750
Griscelli Syndrome	Abnormal circulating lipid concentration, Abnormal eyebrow morphology, Leukopenia, Splenomegaly, ...	ORPHA:381
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Micrognathia, Congenital diaphragmatic hernia, Arachnodactyly, Epi...	ORPHA:280
Blepharo-Cheilo-Odontic Syndrome	Conical tooth, Carious teeth, Finger syndactyly, Bilateral cleft palate, Euryblepharon, Distichia...	ORPHA:1997
Alpha-Mannosidosis, Infantile Form	Abnormality of the sphenoid sinus, Hepatosplenomegaly, Pancytopenia, Genu valgum, Short neck, Bil...	ORPHA:309282
Al-Gazali Syndrome	Osteopenia, Broad distal phalanx of finger, Failure to thrive, Micrognathia, Recurrent fractures,...	OMIM:609465
Dyskeratosis Congenita, Autosomal Dominant 3	Ataxia, Osteopenia, Aplastic anemia, Oral leukoplakia, Pancytopenia, Leukopenia, Avascular necros...	OMIM:613990
Sillence Syndrome	Abnormal vertebral morphology, Broad thumb, Slender build, Intervertebral disk degeneration, Epic...	ORPHA:3168
Alagille Syndrome	Short distal phalanx of finger, Failure to thrive, Abnormal form of the vertebral bodies, Downsla...	ORPHA:52
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Small hand, Delayed cranial suture closure, Lymphopen...	OMIM:620005
Verloove Vanhorick-Brubakk Syndrome	Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal form of the vertebral bodies,...	ORPHA:3429
Immunodeficiency 43	Hypoalbuminemia, Reduced natural killer cell count, Radial bowing, Decreased circulating beta-2-m...	OMIM:241600
Felty Syndrome	Cellulitis, Limitation of joint mobility, Abnormal joint morphology, Abnormal lymphocyte morpholo...	ORPHA:47612
3-Methylglutaconic Aciduria, Type Viib	Ataxia, Brachioradialis areflexia, Rhizomelia, Leukopenia, Micrognathia, Neutropenia, Thrombocyto...	OMIM:616271
Noonan Syndrome 14	High, narrow palate, Pectus carinatum, Sparse eyebrow, Clinodactyly, Long philtrum, Downslanted p...	OMIM:619745
Hajdu-Cheney Syndrome	Micrognathia, Narrow mouth, Genu valgum, Fibular bowing, Absent frontal sinuses, Epicanthus, Crow...	OMIM:102500
Phocomelia, Schinzel Type	High, narrow palate, Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the ...	ORPHA:2879
Aicardi-Goutieres Syndrome 6	Loss of ambulation, Hemolytic anemia, Splenomegaly, Thrombocytopenia	OMIM:615010
Brachydactyly, Type E1	Type E brachydactyly, Multiple impacted teeth, Short clavicles, Brachydactyly, Straight clavicles...	OMIM:113300
Becker Nevus Syndrome	Lipoatrophy, Pectus carinatum, Lower limb asymmetry, Micromelia, Abnormal tibia morphology, Rib f...	ORPHA:64755
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Platyspondyly, Micromelia, Flar...	OMIM:187601
Short Stature, Microcephaly, And Endocrine Dysfunction	Tooth malposition, Broad-based gait, Clinodactyly, Abnormal circulating lipid concentration, Lymp...	OMIM:616541
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Natal tooth, Broad foot, Epicanthus, Short neck, Short foot, Short toe, Ham...	OMIM:269860
Craniosynostosis And Dental Anomalies	Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Dental malocclu...	OMIM:614188
Lysinuric Protein Intolerance	Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, O...	ORPHA:470
Peters-Plus Syndrome	Square pelvis bone, Micrognathia, Short lingual frenulum, Broad foot, Limited elbow movement, Dec...	OMIM:261540
Systemic Lupus Erythematosus 17	Lymphopenia, Leukopenia, Oral ulcer, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Hypoplasia of the maxilla, Thick eyebrow, Upslanted palpebral fissure, Thin upper lip vermilion, ...	OMIM:618737
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Impaired platelet aggregation, Macrocytic anemia, Anisocytosis,...	OMIM:300835
10Q22.3Q23.3 Microduplication Syndrome	Abnormality of the dentition, Microretrognathia, Abnormal clavicle morphology, Upslanted palpebra...	ORPHA:276422
Bloom Syndrome	Clinodactyly of the 5th finger, Malar flattening, Hand polydactyly, Agenesis of maxillary lateral...	OMIM:210900
Mevalonic Aciduria	Progressive cerebellar ataxia, Fluctuating splenomegaly, Failure to thrive, Downslanted palpebral...	OMIM:610377
Celiac Disease, Susceptibility To, 1	Rickets, Postnatal growth retardation, Decreased circulating IgA level, Hypocalcemia, Macrocytic ...	OMIM:212750
Acrofacial Dysostosis, Catania Type	Carious teeth, Downslanted palpebral fissures, Micrognathia, Malar flattening, Single transverse ...	OMIM:101805
Chromosome 19Q13.11 Deletion Syndrome, Distal	Carious teeth, Overlapping toe, Micrognathia, Cutaneous finger syndactyly, Reduced subcutaneous a...	OMIM:613026
Rapp-Hodgkin Syndrome	2-3 toe cutaneous syndactyly, Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Conical toot...	OMIM:129400
Meier-Gorlin Syndrome 5	Hypoplasia of the maxilla, Elbow dislocation, Long philtrum, Clinodactyly, Slender long bone, Hyp...	OMIM:613805
Rh-Null, Amorph Type	Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia	OMIM:617970
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio...	OMIM:603553
Harrod Syndrome	Abnormal pelvic girdle bone morphology, Dental malocclusion, Failure to thrive, Abnormal shoulder...	ORPHA:2115
Fanconi Anemia, Complementation Group C	Absent thumb, Short thumb, Absent radius, Pancytopenia, Epicanthus, Anemia, Reticulocytopenia, Ne...	OMIM:227645
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Osteogenesis Imperfecta, Type Vii	Delayed cranial suture closure, Multiple prenatal fractures, Protrusio acetabuli, Osteopenia, Ver...	OMIM:610682
Femoral-Facial Syndrome	Toe syndactyly, Micrognathia, Humeroradial synostosis, Limited elbow movement, Epicanthus, Radiou...	OMIM:134780
Congenital Rubella Syndrome	Anemia, Abnormal metaphysis morphology, Splenomegaly, Thrombocytopenia	ORPHA:290
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Narrow chest, Micromelia, Long philtrum, Thoracic hypoplasia, Lateral clavicle ...	OMIM:617895
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Short palpebral fissure, Natal tooth, Umbil...	OMIM:617237
Lenz-Majewski Hyperostotic Dwarfism	Delayed cranial suture closure, Cutaneous finger syndactyly, Micrognathia, Humeroradial synostosi...	OMIM:151050
Goldberg-Shprintzen Syndrome	Wide nasal bridge, Highly arched eyebrow, Hypoplasia of the maxilla, Small hand, Downslanted palp...	OMIM:609460
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Micromelia, Abnormality of the wrist, Short humerus, Split hand, Aplasia/Hypoplasia of the ulna, ...	ORPHA:2491
Mosaic Trisomy 8	Narrow chest, Arthrogryposis multiplex congenita, Deep plantar creases, Limitation of joint mobil...	ORPHA:96061
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatosplenomegaly, Genu valgum, Open mouth, Epicanthus, Talipes equinovarus, Pes planus, Everted...	OMIM:301066
Aicardi Syndrome	Block vertebrae, Small hand, Sparse lateral eyebrow, Cleft upper lip, Butterfly vertebrae, Promin...	ORPHA:50
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Overlapping toe, Open mouth, Epicanthus, Flexion contracture of finger, Narrow palpebral fissure,...	ORPHA:254528
Immunodeficiency, Common Variable, 8, With Autoimmunity	Failure to thrive, Pancytopenia, Autoimmune hemolytic anemia, Recurrent sinusitis, Splenomegaly, ...	OMIM:614700
Spondyloocular Syndrome	Osteopenia, Overlapping toe, Arachnodactyly, Femur fracture, Long toe, Pes planus, Long fingers, ...	OMIM:605822
Frontorhiny	Hypoplasia of the maxilla, Finger clinodactyly, Camptodactyly of finger, Lumbar hyperlordosis, Hy...	ORPHA:391474
Farber Disease	Short toe, Failure to thrive, Short finger, Abnormal foot morphology, Abnormal sternum morphology...	ORPHA:333
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Carious teeth, Natal tooth, Broad thumb, Micrognathia, Patellar dislocation, High palate, Syndact...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Carious teeth, Natal tooth, Broad thumb, Micrognathia, Patellar dislocation, High palate, Syndact...	ORPHA:353277
Pseudohermaphroditism, Female, With Skeletal Anomalies	Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation	OMIM:264270
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Failure to thrive, Splenomegaly, Elevated circulating creatine kinase concentration, Increased bo...	ORPHA:264580
Macrophage Activation Syndrome	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hy...	ORPHA:158061
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Wide nasal bridge, Osteopenia, Retrognathia, Failure to thrive, Kyphoscoliosis, Limb undergrowth,...	OMIM:618005
Propionic Acidemia	Failure to thrive, Pancytopenia, Hyperglycinemia, Hyperammonemia, Thrombocytopenia, Neutropenia, ...	OMIM:606054
Marden-Walker Syndrome	High, narrow palate, Joint contracture of the hand, Congenital contracture, Long philtrum, Abnorm...	OMIM:248700
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormality of iron homeostasis, Increased circulating ferritin concentration, Joint stiffness, J...	ORPHA:465508
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Elbow contracture, Irregular epiphyses, Sclerosis of skull base, Delayed pubic bone o...	OMIM:618162
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Gait imbalance, Elevated circulating creatine kinase concentration, Hypercholest...	ORPHA:64753
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Platyspondyly, Abnormal pelvic girdle bone morphology, Growth arrest lines, Failure to thrive, Ly...	OMIM:102700
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia	ORPHA:3196
Congenital Heart Defects And Skeletal Malformations Syndrome	Carious teeth, Congenital diaphragmatic hernia, Arachnodactyly, Pes planus, Long nose, Narrow max...	OMIM:617602
Camptodactyly Syndrome, Guadalajara Type 3	Symblepharon, Osteopenia, Small hand, Broad femoral neck, Retrognathia, Distal shortening of limb...	ORPHA:488434
Craniotubular Dysplasia, Ikegawa Type	Broad femoral neck, Sclerosis of skull base, Diaphyseal dysplasia, Broad ischia, Metaphyseal dysp...	OMIM:619727
Monosomy 9P	Limitation of joint mobility, Micrognathia, Narrow mouth, Bilateral single transverse palmar crea...	ORPHA:261112
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis...	OMIM:208500
Orofaciodigital Syndrome Xix	Carious teeth, Toe syndactyly, Postaxial foot polydactyly, Cleft soft palate, Narrow mouth, Epica...	OMIM:620107
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal vertebral morphology, Hypoplastic scapulae, Limitation of joint mobility, Clinodactyly, ...	ORPHA:95699
Aicardi-Goutieres Syndrome 3	Hepatosplenomegaly, Thrombocytopenia	OMIM:610329
Bone Marrow Failure Syndrome 4	Anemia, Leukopenia, Rhizomelia, Thrombocytopenia	OMIM:618116
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Difficulty walking, Short neck, Ovoid thoracolumbar vertebrae, Inguinal her...	OMIM:252940
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop...	OMIM:212050
Distal 17P13.1 Microdeletion Syndrome	Hypoplasia of the zygomatic bone, Retrognathia, Abnormal hand morphology, Increased overbite, Lim...	ORPHA:319171
Cat-Eye Syndrome	Hip dysplasia, Abnormal rib morphology, Downslanted palpebral fissures	ORPHA:195
Saethre-Chotzen Syndrome	Lambdoidal craniosynostosis, Partial duplication of the distal phalanx of the 3rd finger, Toe syn...	OMIM:101400
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Short 5th finger, Toe clinodactyly, Bilateral ptosis, Downslanted palpebral fissures, Hyperbiliru...	ORPHA:163979
Distal Duplication 5Q	Carious teeth, Absent thumb, Long philtrum, Downslanted palpebral fissures, Micrognathia, Narrow ...	ORPHA:96097
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Coronal craniosynostosis, Aplastic clavicle, Abnormal clavicle morphology, Short thorax, Delayed ...	ORPHA:85199
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Splenomegaly, Elevated circulating creatine kinase concentration, Increased body weight, Hypercho...	ORPHA:79240
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Long hallux, Tall stature, Talipes equinovarus, Long fingers, Thin bony cortex, Short stature, Os...	OMIM:309583
Galactokinase Deficiency	Failure to thrive, Hypergalactosemia, Hepatosplenomegaly, Hypercholesterolemia, Increased level o...	ORPHA:79237
Faciocardiomelic Syndrome	Osteopenia, Slender long bone, Micrognathia, Hypoplastic pelvis, Polydactyly, Thin bony cortex	OMIM:612731
Khan-Khan-Katsanis Syndrome	Highly arched eyebrow, Trichiasis, Clinodactyly, Failure to thrive, Sacral dimple, Lymphopenia, C...	OMIM:618460
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphol...	ORPHA:1323
Postaxial Acrofacial Dysostosis	Congenital hip dislocation, Conical tooth, Short thumb, Cleft upper lip, Downslanted palpebral fi...	OMIM:263750
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia	ORPHA:54057
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Diastema, Bicoronal synostosis, Agenesis of molar, Microdontia, Joint hypermobility, ...	OMIM:619718
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Abnormality of the dentition, Lymphopenia, Kyphoscoliosis, 2-3 toe syndactyly, Thin vermilion bor...	ORPHA:391307
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise	ORPHA:423
Hjv Or Hamp-Related Hemochromatosis	Abnormality of iron homeostasis, Increased circulating ferritin concentration, Arthropathy, Osteo...	ORPHA:79230
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Abnormality of frontal sinus, Short thumb, Downslanted palpebral fissures, O...	ORPHA:436003
Jacobsen Syndrome	Toe syndactyly, Finger syndactyly, Long hallux, Talipes, Epicanthus, Short neck, Pes planus, Hip ...	ORPHA:2308
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Dent Disease 2	Hypophosphatemia, Umbilical hernia, Elevated circulating creatine kinase concentration	OMIM:300555
Apert Syndrome	Bifid uvula, Hypoplasia of the maxilla, Toe syndactyly, Broad thumb, Delayed eruption of teeth, F...	ORPHA:87
Crane-Heise Syndrome	Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s...	ORPHA:1512
Familial Isolated Hyperparathyroidism	Osteopenia, Chondrocalcinosis, Hypophosphatemia, Generalized osteoporosis, Hypercalcemia	ORPHA:99879
Dubowitz Syndrome	Carious teeth, Aplastic anemia, Velopharyngeal insufficiency, Micrognathia, Epicanthus, Pes planu...	OMIM:223370
Radio-Renal Syndrome	High, narrow palate, Downturned corners of mouth, Retrognathia, Micromelia, Abnormal form of the ...	ORPHA:3015
Mesomelia-Synostoses Syndrome	Abnormal vertebral morphology, Micrognathia, Short foot, Partial fusion of proximal row of carpal...	OMIM:600383
X-Linked Intellectual Disability, Sutherland-Haan Type	Hypoplasia of the maxilla, Upslanted palpebral fissure, Decreased body weight, Mandibular prognat...	ORPHA:93950
Oculodentodigital Dysplasia	Carious teeth, Clinodactyly, Joint contracture of the 5th finger, Epicanthus, Blepharophimosis, A...	OMIM:164200
Relapsing Fever	Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi...	ORPHA:91547
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Short distal phalanx of finger, Finger syndactyly, Eyelid coloboma, C...	ORPHA:1647
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Widely spaced teeth, Gingival overgrowth, Splenomegaly, Alveolar ridge...	OMIM:301072
Duplication Of The Pituitary Gland	Retrognathia, Abnormality of the plantar skin of foot, Abnormal odontoid process morphology, Decr...	ORPHA:314621
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Lymphopenia, Prominent floating ribs, Pedal edema	OMIM:152800
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia, Multiple pterygia, Short thorax, Arthrogryposis multiple...	OMIM:601809
Mandibulofacial Dysostosis With Alopecia	Wide nasal bridge, Hypoplasia of the maxilla, Dental crowding, Micrognathia, Lower eyelid colobom...	OMIM:616367
Refractory Anemia	Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut...	ORPHA:98826
Ear-Patella-Short Stature Syndrome	Elbow dislocation, Micrognathia, Narrow mouth, Patellar aplasia, High, narrow palate, Hypoplasia ...	ORPHA:2554
Ataxia With Vitamin E Deficiency	Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Dysmetria, Gait distu...	OMIM:277460
Acrofacial Dysostosis 1, Nager Type	Toe syndactyly, Velopharyngeal insufficiency, Clinodactyly, Overlapping toe, Micrognathia, Congen...	OMIM:154400
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnorma...	ORPHA:443811
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Toluene Embryopathy	Short palpebral fissure, Hypoplasia of the zygomatic bone, Micrognathia, Smooth philtrum, Epicant...	ORPHA:1920
Simpson-Golabi-Behmel Syndrome	Toe syndactyly, Broad thumb, Finger syndactyly, Congenital diaphragmatic hernia, Broad foot, Epic...	ORPHA:373
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Joint dislocation, Lymphopenia, Leukopenia, Joint stiffness, Splenomegaly, Joint hypermobility, R...	OMIM:620210
Nasopalpebral Lipoma-Coloboma Syndrome	Hamartoma of the orbital region, Hypoplasia of the maxilla, Sparse eyebrow, Lacrimal punctal atre...	ORPHA:2399
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Polyarticular arthritis, Lymphopenia, Oral ulcer, Thrombocytopenia, Hemolytic anemia	OMIM:616744
Say-Barber-Miller Syndrome	Tooth malposition, Carious teeth, Micrognathia, Impaired neutrophil chemotaxis, Thoracic kyphosco...	ORPHA:3132
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Femoral bowing, Fibular bowing, Tibial bowing, Metaphyseal chondrodysplasia, Aplasia/Hypoplasia o...	ORPHA:85165
Congenital Disorder Of Glycosylation, Type Iiw	Pectus carinatum, Narrow chest, Scoliosis, Failure to thrive, Microcytic anemia, Ankyloglossia, M...	OMIM:619525
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hepatosplenomegaly, Hyperbilirubinemia, Hyperthreoninemia, Increased LDL cholesterol concentratio...	ORPHA:247598
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Broad distal phalanx of finger, Micrognathia, Joint hypermobility, Talipes, Talipes equinovarus, ...	OMIM:300990
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Prolidase Deficiency	Failure to thrive, Micrognathia, Splenomegaly, Ptosis, Thrombocytopenia, Anemia, High palate, Sho...	OMIM:170100
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Cellulitis, Fasciitis, Elevated circulating creatinine concentration, Osteomyeli...	ORPHA:36234
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Frank-Ter Haar Syndrome	Osteopenia, Growth delay, Flared metaphysis, Cortical irregularity, Micrognathia, Bowing of the l...	OMIM:249420
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Thrombocytopenia, Monocyto...	OMIM:619644
Poland Syndrome	Hypoplasia of deltoid muscle, Short ribs, Unilateral oligodactyly, Rib fusion, Sprengel anomaly, ...	OMIM:173800
Kbg Syndrome	Ulnar deviation of the 2nd finger, Short neck, Widely-spaced maxillary central incisors, Vertebra...	OMIM:148050
Treacher-Collins Syndrome	Open bite, Micrognathia, Narrow mouth, Absent eyelashes, High palate, Blepharospasm, Hypoplasia o...	ORPHA:861
Deeah Syndrome	Narrow palate, Short palpebral fissure, Retrognathia, Long philtrum, Overlapping fingers, Narrow ...	OMIM:619004
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ...	OMIM:619130
Sweeney-Cox Syndrome	Wide nasal bridge, Short distal phalanx of finger, Narrow chest, Velopharyngeal insufficiency, Mi...	OMIM:617746
Fanconi-Bickel Syndrome	Hypouricemia, Rickets, Osteomalacia, Postnatal growth retardation, Hyperbilirubinemia, Increased ...	OMIM:227810
Hypoglossia-Hypodactyly Syndrome	Wide nasal bridge, Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Hypoplasia of t...	ORPHA:989
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Failure to thrive, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increas...	OMIM:613845
Spondylometaphyseal Dysplasia, Sedaghatian Type	Platyspondyly, Narrow chest, Cone-shaped epiphysis, Abnormal scapula morphology, Rhizomelic arm s...	ORPHA:93317
Aggressive Systemic Mastocytosis	Pathologic fracture, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased pro...	ORPHA:98850
Immunodeficiency 46	Failure to thrive, Neutropenia, Anemia, Conjunctivitis, Intermittent thrombocytopenia	OMIM:616740
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Obesity, Hypercholesterolemia, Ataxia, Elevated circulating alpha-fetoprotein co...	OMIM:616267
Zttk Syndrome	Small hand, Narrow mouth, Epicanthus, High palate, Short foot, Short nose, Hypoplasia of the maxi...	OMIM:617140
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density, Hyperoxaluria	OMIM:259900
Trisomy 1Q	Microretrognathia, Toe syndactyly, Abnormal rib morphology, Camptodactyly of finger, Downslanted ...	ORPHA:261344
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Abnormal B cell coun...	OMIM:617514
Gaisböck Syndrome	Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he...	ORPHA:90041
Diffuse Neonatal Hemangiomatosis	Anemia, Hypercalcemia, Thrombocytopenia	ORPHA:2123
Ellis Van Creveld Syndrome	Acute leukemia, Synostosis of carpal bones, Genu valgum, Foot polydactyly, Abnormal oral mucosa m...	ORPHA:289
Ulnar-Mammary Syndrome	Short distal phalanx of finger, Pectus carinatum, Abnormal clavicle morphology, Camptodactyly of ...	ORPHA:3138
Ogden Syndrome	Palpebral thickening, Everted upper lip vermilion, Delayed cranial suture closure, Thick upper li...	OMIM:300855
Wolfram Syndrome 1	Limited mobility of proximal interphalangeal joint, Sideroblastic anemia, Ptosis, Megaloblastic a...	OMIM:222300
Proteasome-Associated Autoinflammatory Syndrome 1	Hypoplastic scapulae, Finger swelling, Microcytic anemia, Flexion contracture of finger, Elevated...	OMIM:256040
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Rickets, Failure to thrive, Rachitic rosary, Hypom...	OMIM:219800
22Q11.2 Deletion Syndrome	Carious teeth, Micrognathia, Narrow mouth, Arachnodactyly, Epicanthus, Talipes equinovarus, Short...	ORPHA:567
Rhabdoid Tumor	Anemia, Weight loss, Hypercalcemia, Thrombocytopenia	ORPHA:69077
Dyskeratosis Congenita, Autosomal Recessive 1	Carious teeth, Aplastic anemia, Oral leukoplakia, Pterygium, Pancytopenia, Sparse eyelashes, Micr...	OMIM:224230
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Elbow dislocation, Radial bowing, Cleft soft palate, Microgn...	OMIM:142900
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Congenital hip dislocation, Carious teeth, Failure to thrive, Long philtrum, Downslanted palpebra...	ORPHA:357074
Dyskeratosis Congenita, Autosomal Dominant 1	Carious teeth, Aplastic anemia, Oral leukoplakia, Increased mean corpuscular volume, Lymphopenia,...	OMIM:127550
Proximal 16P11.2 Microdeletion Syndrome	Abnormal vertebral morphology, Failure to thrive, Obesity, Micrognathia, Congenital diaphragmatic...	ORPHA:261197
Amegakaryocytic Thrombocytopenia, Congenital, 1	Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:604498
Focal Dermal Hypoplasia	Toe syndactyly, Finger syndactyly, Open bite, Congenital diaphragmatic hernia, Hernia, Upper limb...	ORPHA:2092
Klippel-Feil Syndrome 1, Autosomal Dominant	Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Abnormal limb bone morphology, Abn...	OMIM:118100
Nijmegen Breakage Syndrome	Sandal gap, Cleft upper lip, Malar prominence, Micrognathia, Upslanted palpebral fissure, Autoimm...	OMIM:251260
Transaldolase Deficiency	Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased serum bile acid conce...	ORPHA:101028
X-Linked Sideroblastic Anemia	Anemia, Abnormality of iron homeostasis, Splenomegaly	ORPHA:75563
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Endocrine-Cerebroosteodysplasia	Natal tooth, Thick upper lip vermilion, Micrognathia, Fibular bowing, Barrel-shaped chest, Talipe...	OMIM:612651
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Progressive Non-Infectious Anterior Vertebral Fusion	Wide nasal bridge, Scoliosis, Kyphosis, Abnormality of the vertebral column, Downslanted palpebra...	ORPHA:2062
Cutis Laxa, Autosomal Recessive, Type Iia	Congenital hip dislocation, Carious teeth, Failure to thrive, Long philtrum, Downslanted palpebra...	OMIM:219200
3Mc Syndrome	Highly arched eyebrow, Caudal appendage, Downturned corners of mouth, Downslanted palpebral fissu...	ORPHA:293843
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Broad distal phalanx of finger, Carious teeth, Natal tooth, Dental crowding, Dental malocclusion,...	ORPHA:353281
Wolcott-Rallison Syndrome	Hypoalbuminemia, Difficulty walking, Hyperbilirubinemia, Hyperammonemia, Decreased body weight, H...	ORPHA:1667
Adams-Oliver Syndrome	Short distal phalanx of finger, Finger syndactyly, Failure to thrive, Leukopenia, Absent hand, Ab...	ORPHA:974
Holoprosencephaly 9	Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Dental malocclusion, Downturned corners ...	OMIM:610829
Barber-Say Syndrome	Velopharyngeal insufficiency, Micrognathia, Sparse eyelashes, Epiblepharon, Talipes equinovarus, ...	OMIM:209885
Chédiak-Higashi Syndrome	Gingival bleeding, Periodontitis, Hemophagocytosis, Atrophy of alveolar ridges, Hepatosplenomegal...	ORPHA:167
Gaucher Disease, Type I	Erlenmeyer flask deformity of the femurs, Pathologic fracture, Pancytopenia, Hypersplenism, Splen...	OMIM:230800
Baller-Gerold Syndrome	Lambdoidal craniosynostosis, Abnormal vertebral morphology, Carpal synostosis, Micrognathia, Narr...	OMIM:218600
Gaucher Disease, Perinatal Lethal	Everted upper lip vermilion, Retrognathia, Thoracic hypoplasia, Hepatosplenomegaly, Micrognathia,...	OMIM:608013
Osteogenesis Imperfecta, Type I	Osteopenia, Femoral bowing, Increased susceptibility to fractures, Joint hypermobility, Hip dyspl...	OMIM:166200
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula...	ORPHA:86839
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Genu valgum, Loss of ambulation, Ataxia, Avascular necrosis of the cap...	ORPHA:581
Schinzel-Giedion Syndrome	Overlapping toe, Micrognathia, Overlapping fingers, Radioulnar synostosis, Short neck, High palat...	ORPHA:798
Sifrim-Hitz-Weiss Syndrome	Bifid uvula, Short palpebral fissure, Gait imbalance, Upslanted palpebral fissure, Short clavicle...	OMIM:617159
Lethal Kniest-Like Dysplasia	Platyspondyly, Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Mesomelic/rhi...	ORPHA:2347
Chand Syndrome	Short fifth metatarsal, Ankyloblepharon, Agenesis of permanent teeth, Abnormal oral frenulum morp...	ORPHA:1401
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia, Failure to thrive	OMIM:616963
Neu-Laxova Syndrome	Osteopenia, Rickets, Micromelia, Osteomalacia, Intrauterine growth retardation, Micrognathia, Bro...	ORPHA:2671
Wolf-Hirschhorn Syndrome	Micrognathia, Talipes equinovarus, Epicanthus, Radioulnar synostosis, Short hallux, Hip dislocati...	OMIM:194190
Autosomal Dominant Severe Congenital Neutropenia	Cellulitis, Osteopenia, Periodontitis, Aplastic anemia, Leukemia, Lymphopenia, Recurrent aphthous...	ORPHA:486
Severe Oculo-Renal-Cerebellar Syndrome	Hypoplasia of the zygomatic bone, Sandal gap, Malar prominence, Wide mouth, Joint hypermobility, ...	ORPHA:2715
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Craniolenticulosutural Dysplasia	Carious teeth, Pes planus, High palate, Osteopenia, Thin upper lip vermilion, Narrow iliac wing, ...	OMIM:607812
Beta-Thalassemia Intermedia	Osteopenia, Abnormality of iron homeostasis, Extramedullary hematopoiesis, Persistence of hemoglo...	ORPHA:231222
Kindler Epidermolysis Bullosa	Atypical scarring of skin, Carious teeth, Periodontitis, Finger syndactyly, Palmoplantar keratode...	ORPHA:2908
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Failure to thrive, Leukopenia, Splenomegaly, Joint hypermobi...	OMIM:300972
Pearson Syndrome	Ataxia, Hypomagnesemia, Pancytopenia, Median cleft palate, Reticulocytosis, Splenomegaly, Hypocal...	ORPHA:699
Hemophagocytic Syndrome Associated With An Infection	Ataxia, Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T ...	ORPHA:158048
Fanconi Anemia, Complementation Group E	Absent thumb, Short thumb, Absent radius, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, T...	OMIM:600901
Crouzon Syndrome	Hypoplasia of the maxilla, Multiple suture craniosynostosis, Ptosis, Conjunctivitis, Narrow palat...	ORPHA:207
Charge Syndrome	Lymphopenia, Micrognathia, Radial head subluxation, Absent radius, Bilateral talipes equinovarus,...	OMIM:214800
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Tularemia	Brain abscess, Cutaneous abscess, Leukocytosis, Oral ulcer, Conjunctival hyperemia, Thrombocytope...	ORPHA:3392
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-...	OMIM:620481
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Wide nasal bridge, Hypoplasia of the maxilla, Cleft lip, Conical tooth, Ankyloblepharon, Selectiv...	OMIM:106260
Atypical Hemolytic Uremic Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:2134
Floating-Harbor Syndrome	Broad-based gait, Carious teeth, Clinodactyly, Short neck, Broad fingertip, Long nose, Dislocated...	ORPHA:2044
Wilson Disease	Failure to thrive, Difficulty walking, Pathologic fracture, Splenomegaly, Joint swelling, Increas...	ORPHA:905
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia	OMIM:133180
Maternal Uniparental Disomy Of Chromosome 6	Slender long bone, Cleft upper lip, Inguinal hernia, Thrombocytopenia, Cleft palate	ORPHA:96181
7Q31 Microdeletion Syndrome	Short palpebral fissure, Hypoplasia of the maxilla, Clinodactyly of the 2nd finger, Long philtrum...	ORPHA:251061
Cdags Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Sparse eyebrow, Delayed cranial suture clo...	OMIM:603116
Postaxial Oligodactyly, Tetramelic	Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-...	OMIM:176240
Campomelia, Cumming Type	Clubbing of toes, Micromelia, Abnormal thorax morphology, Bowing of the long bones, Brachydactyly...	ORPHA:1318
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Keratoconjunctivitis, Weight loss, Thrombocytopenia, Ataxia	ORPHA:79242
Hemochromatosis, Type 2B	Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg...	OMIM:613313
Gm1 Gangliosidosis Type 1	Platyspondyly, Pectus carinatum, Abnormal odontoid tissue morphology, Long philtrum, Beaking of v...	ORPHA:79255
Robinow Syndrome	Tooth malposition, Ankyloglossia, Marked delay in eruption of permanent teeth, Micrognathia, Meso...	ORPHA:97360
Amelogenesis Imperfecta	Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior...	ORPHA:88661
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a...	OMIM:617021
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy...	OMIM:155100
Hereditary Acrokeratotic Poikiloderma	Gingival bleeding, Abnormality of the dentition, Oral leukoplakia, Finger syndactyly, Ectropion, ...	ORPHA:2907
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Downslanted palpebral fissures, Increased size of the mandible, Smooth philtrum, Thrombocytopenia...	OMIM:300048
Orofaciodigital Syndrome Type 14	Microretrognathia, Postaxial foot polydactyly, Broad hallux, Hamartoma of tongue, Telecanthus, Ac...	ORPHA:434179
Faciodigitogenital Syndrome, Autosomal Recessive	High palate, Short foot, Short nose, Syndactyly, Abnormal rib cage morphology, Downslanted palpeb...	OMIM:227330
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Atypical scarring of skin, Carious tee...	ORPHA:89842
Fanconi Anemia, Complementation Group A	Absent thumb, Short thumb, Absent radius, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, T...	OMIM:227650
Mogs-Cdg	Short palpebral fissure, Retrognathia, Long eyelashes, Hepatosplenomegaly, Overlapping fingers, T...	ORPHA:79330
Aicardi Syndrome	Block vertebrae, Sparse lateral eyebrow, Cleft upper lip, Butterfly vertebrae, Prominence of the ...	OMIM:304050
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sparse eyebrow, Tapered toe, Retrognathia, Downslanted palpebral fissures, Bilateral ptosis, Larg...	ORPHA:544488
Alagille Syndrome 1	Short distal phalanx of finger, Failure to thrive, Abnormal rib morphology, Upslanted palpebral f...	OMIM:118450
Orofaciodigital Syndrome Xiv	Cleft lip, Natal tooth, Microretrognathia, Broad hallux, Preaxial polydactyly, Hamartoma of tongu...	OMIM:615948
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Abnormal dental morphology, Hypophosphatemic rickets, Kyphoscoliosis, Abnormal finger...	OMIM:163200
Roch-Leri Mesosomatous Lipomatosis	Multiple lipomas, Thrombocytopenia	ORPHA:529
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypophosphatemia, Hypercalcemia, Osteomalacia	OMIM:600740
Holoprosencephaly	Abnormality of the spleen, Congenital diaphragmatic hernia, Talipes, Epicanthus, Short neck, Blep...	ORPHA:2162
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteoporosis, Osteopenia, Hypophosphatemia, Increased susceptibility to fractures	OMIM:612287
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Inability to walk, Scoliosis, Failure to thrive, Thrombocytopenia	OMIM:616577
Microcephaly, Short Stature, And Limb Abnormalities	Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Upslanted palpebral fissure, Radioulnar ...	OMIM:617604
Dyschondrosteosis-Nephritis Syndrome	Aplasia/Hypoplasia of the radius, Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Mi...	ORPHA:1765
Acrocallosal Syndrome	Toe syndactyly, Postaxial foot polydactyly, Everted upper lip vermilion, Finger syndactyly, Open ...	OMIM:200990
Mucopolysaccharidosis Type 7	Anterior beaking of lower thoracic vertebrae, Umbilical hernia, Abnormal hip bone morphology, Epi...	ORPHA:584
Fanconi Anemia, Complementation Group F	Absent thumb, Short thumb, Failure to thrive, Leukopenia, 2-3 finger syndactyly, Hypoplasia of th...	OMIM:603467
Trisomy 18	Narrow mouth, Bilateral single transverse palmar creases, Congenital diaphragmatic hernia, Hernia...	ORPHA:3380
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia	OMIM:141000
3Mc Syndrome 1	Lambdoidal craniosynostosis, Caudal appendage, Broad foot, Radioulnar synostosis, Blepharophimosi...	OMIM:257920
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	High, narrow palate, Hypoplasia of the maxilla, Ulnar deviation of finger, Long philtrum, Camptod...	ORPHA:1101
Citrullinemia Type Ii	Hypoalbuminemia, Decreased body mass index, Decreased HDL cholesterol concentration, Hyperlipidem...	ORPHA:247585
Congenital Analbuminemia	Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S...	ORPHA:86816
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Elevated circu...	ORPHA:231111
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Abnormal joint morphology, Micrognathia, Genu...	ORPHA:2753
Cowden Syndrome 1	Hypoplasia of the maxilla, Subcutaneous lipoma, Furrowed tongue, Lymphopenia, Micrognathia, Narro...	OMIM:158350
Pallister-Hall Syndrome	Toe syndactyly, Natal tooth, Postaxial foot polydactyly, Distal shortening of limbs, Radial head ...	OMIM:146510
Fetal Parvovirus Syndrome	Anemia, Thrombocytopenia	ORPHA:295
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration	OMIM:617243
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Wide nasal bridge, Microretrognathia, Hypoplasia of the zygomatic bone, Downslanted palpebral fis...	OMIM:613603
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the pelvis, Micrognathia, Narrow mouth, Missing ribs, Orofacial clef...	ORPHA:3301
Cornelia De Lange Syndrome 6	Macrodontia of permanent maxillary central incisor, Sparse eyebrow, Cleft lip, Highly arched eyeb...	OMIM:620568
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Wide nasal bridge, Narrow chest, Thoracic hypoplasia, Long philtrum, Widely spaced teeth, Short l...	OMIM:619479
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Carious teeth, Camptodactyly of finger, Joint contracture of the 5th finger, Arachnodactyly, Scol...	ORPHA:1883
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Spondylolysis, Hyperbilirubinemia, Hip contracture, Osteolysis involving bones of the upper limbs...	ORPHA:464321
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteoporosis, Osteopenia, Hypophosphatemia, Increased susceptibility to fractures	OMIM:612286
Lysosomal Acid Lipase Deficiency	Hyperkalemia, Failure to thrive, Xanthelasma, Hepatosplenomegaly, Hypersplenism, Hyponatremia, Ca...	ORPHA:275761
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Polydactyly, Methylmalonic acidemia, Flexion contracture, Growth delay, Short femur	ORPHA:17
Aicardi-Goutieres Syndrome 5	Flexion contracture, Thrombocytopenia, Arthropathy	OMIM:612952
Melanocytic Nevus Syndrome, Congenital	Long philtrum, Open mouth, Prominence of the premaxilla, Deep philtrum, Everted lower lip vermili...	OMIM:137550
Acquired Aneurysmal Subarachnoid Hemorrhage	Leukocytosis, Hypercholesterolemia	ORPHA:90065
Congenital Enterovirus Infection	Hypoalbuminemia, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Hyperammonemia, Neutro...	ORPHA:292
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Micromelia, Joint hypermobility, Decreased calvarial ossification, Abnormal rib morphology, Recur...	ORPHA:2772
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Leukopenia, Hyperglycinemia, Hyperammonemia, Thrombocytopenia, Neutropenia, Me...	OMIM:251000
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Polyarticular arthritis, Thrombocytosis, Leukocytosis, Recurrent sinusitis, B lymph...	OMIM:619281
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Bifid uvula, Hypermethioninemia, Increased circulating iron concentration, Small...	OMIM:222470
Wiedemann-Rautenstrauch Syndrome	Hypoplastic ilia, Osteopenia, Growth delay, Camptodactyly of finger, Slender build, Intrauterine ...	ORPHA:3455
Tooth Agenesis, Selective, X-Linked, 1	Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ...	OMIM:313500
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Talipes equinovalgus, Abn...	ORPHA:1120
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Osteopenia, Rickets, Slender build, Intrauterine growth retardation, Pancytopeni...	OMIM:613658
Noonan Syndrome 1	Clinodactyly, Micrognathia, Synovitis, Epicanthus, Short neck, High palate, High, narrow palate, ...	OMIM:163950
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Telecanthus, Med...	ORPHA:1827
Fetal Akinesia Deformation Sequence 1	Thin ribs, Micrognathia, Narrow mouth, Hip contracture, Talipes equinovarus, Short neck, Elbow an...	OMIM:208150
Avian Influenza	Hypoalbuminemia, Lymphopenia, Leukopenia, Elevated circulating creatine kinase concentration, Thr...	ORPHA:454836
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Wide nasal bridge, Microretrognathia, Carious teeth, Dental malocclusion, Clinodactyly, Periorbit...	OMIM:615560
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Fetal Gaucher Disease	Arthrogryposis multiplex congenita, Abnormality of the spleen, Pancytopenia, Splenomegaly, Thromb...	ORPHA:85212
Incontinentia Pigmenti	Deviation of finger, Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Abnor...	ORPHA:464
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Osteomalacia, Iron deficiency anemia, Osteoporosis, Growth delay	ORPHA:309031
Bone Marrow Failure Syndrome 2	Anemia, Leukopenia, Thrombocytopenia	OMIM:615715
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret...	ORPHA:35858
Gaucher Disease, Type Iii	Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia, Ataxia	OMIM:231000
Purine Nucleoside Phosphorylase Deficiency	Ataxia, Hypouricemia, Failure to thrive, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, ...	OMIM:613179
Ulbright-Hodes Syndrome	Thin ribs, Fibular aplasia, Micrognathia, Narrow mouth, Humeroradial synostosis, Talipes equinova...	ORPHA:3404
Distal Renal Tubular Acidosis	Growth delay, Rickets, Osteomalacia, Hemolytic anemia, Increased susceptibility to fractures, Hyp...	ORPHA:18
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia, Limitation of joint mobility, Arthritis	ORPHA:2582
Fanconi Anemia, Complementation Group B	Abnormal vertebral morphology, Bilateral radial aplasia, Absent thumb, Aplastic anemia, Short nec...	OMIM:300514
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Thin ribs, Contracture of the distal interphalangeal joint of the fingers, Micrognathia, Narrow m...	ORPHA:83617
Helsmoortel-Van Der Aa Syndrome	Small hand, Carious teeth, Ankyloglossia, Genu valgum, Epicanthus, Pes planus, Everted lower lip ...	OMIM:615873
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Failure to thrive, Anisocytosis, Hypochromia, Poikilocy...	OMIM:258900
Rapidly Involuting Congenital Hemangioma	Lipoatrophy, Thrombocytopenia	ORPHA:141184
Congenital Toxoplasmosis	Anemia, Failure to thrive in infancy, Thrombocytopenia	ORPHA:858
Dengue Fever	Gingival bleeding, Leukopenia, Hypoproteinemia, Thrombocytopenia	ORPHA:99828
Sengers Syndrome	Osteopenia, Thrombocytopenia	OMIM:212350
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Short distal phalanx of finger, Cone-shaped epiphyses of the middle phalanges of the hand, Distal...	OMIM:606895
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Thrombocytopenia	ORPHA:67048
Neuroblastoma	Increased circulating ferritin concentration, Pathologic fracture, Antalgic gait, Weight loss, Ho...	ORPHA:635
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Wide nasal bridge, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Sparse eyebrow, Fin...	ORPHA:306542
Aceruloplasminemia	Blepharospasm, Decreased circulating iron concentration, Increased circulating ferritin concentra...	OMIM:604290
Wrinkly Skin Syndrome	Carious teeth, Delayed cranial suture closure, Epicanthus, Talipes equinovarus, Pes planus, High ...	OMIM:278250
Dyskeratosis Congenita, Autosomal Dominant 2	Abnormality of the dentition, Aplastic anemia, Oral leukoplakia, Failure to thrive, Pancytopenia,...	OMIM:613989
Angelman Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Broad-based gait, Widely spaced teeth, Obesity,...	OMIM:105830
Hydrolethalus Syndrome 1	Accessory spleen, Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Median cleft u...	OMIM:236680
Intellectual Disability-Short Stature-Hypertelorism Syndrome	Clinodactyly of the 5th finger, Hypoplasia of the zygomatic bone, Long philtrum	ORPHA:3074
Ulnar Hypoplasia	Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio...	OMIM:191440
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Carious teeth, Failure to thrive, Splenomegaly, Anemia of inadequate production, Calv...	OMIM:612714
Transaldolase Deficiency	Failure to thrive, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Anemia, Deep philtrum, Short n...	OMIM:606003
Distal Deletion 19P	Hypoplasia of the maxilla, Keloids, Umbilical hernia, Thick eyebrow, Joint hypermobility, Arachno...	ORPHA:96129
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia	OMIM:598500
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hy...	ORPHA:540
Colchicine Poisoning	Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal...	ORPHA:31824
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Abnormal palate morphology, A...	ORPHA:100026
Lipodystrophy, Familial Partial, Type 2	Increased adipose tissue around the neck, Increased facial adipose tissue, Increased intramuscula...	OMIM:151660
Acro-Renal-Ocular Syndrome	Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Radial club hand, Talipes, ...	ORPHA:959
Restrictive Dermopathy 2	Short clavicles, Hypoplastic facial bones, Microretrognathia, Overtubulated long bones	OMIM:619793
Juvenile Nephropathic Cystinosis	Hypouricemia, Failure to thrive, Elevated circulating creatinine concentration, Hypocalcemic teta...	ORPHA:411634
Hemochromatosis, Type 5	Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir...	OMIM:615517
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration, Leukocytosis, Weight loss, Thrombocytopenia, Anemia	ORPHA:90060
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Increased suscept...	ORPHA:98849
Methylmalonic Aciduria, Cblb Type	Failure to thrive, Elevated circulating propionylcarnitine concentration, Pancytopenia, Hyperglyc...	OMIM:251110
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Lymphopenia, Overlapping fingers, Micrognathia, Dysmetria, Absent uvula, Knee flexion contracture...	OMIM:619708
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thrombocytopenia, Anemia...	OMIM:185070
Yunis-Varon Syndrome	Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge, Micrognathia, Sparse...	ORPHA:3472
Duane-Radial Ray Syndrome	Epicanthus, Aplasia of metacarpal bones, Pes planus, Small thenar eminence, Absent radius, Syndac...	OMIM:607323
Thyrocerebrorenal Syndrome	Nonprogressive cerebellar ataxia, Thrombocytopenia	ORPHA:3327
Chediak-Higashi Syndrome	Ataxia, Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Ane...	OMIM:214500
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Kagami-Ogata Syndrome	Limitation of joint mobility, Thoracic hypoplasia, Pursed lips, Large for gestational age, Microg...	ORPHA:254519
Bleeding Disorder, Platelet-Type, 22	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:618462
Fanconi Anemia, Complementation Group D2	Small for gestational age, Absent thumb, Short thumb, Preaxial hand polydactyly, Absent radius, P...	OMIM:227646
Mosaic Trisomy 9	Limitation of joint mobility, Elbow dislocation, Finger clinodactyly, Camptodactyly of finger, Mi...	ORPHA:99776
Juvenile Polyposis Of Infancy	High, narrow palate, Midclavicular hypoplasia, Hypoalbuminemia, Broad thumb, Subcutaneous lipoma,...	ORPHA:79076
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Failure to thrive, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolyt...	OMIM:304790
Ayme-Gripp Syndrome	Delayed cranial suture closure, Narrow mouth, Radioulnar synostosis, Short nose, Downslanted palp...	OMIM:601088
Pseudo-Torch Syndrome 1	Cleft lip, Microretrognathia, Failure to thrive, Long philtrum, Umbilical hernia, Splenomegaly, T...	OMIM:251290
Mucopolysaccharidosis, Type Iiic	Joint stiffness, Splenomegaly, Kyphoscoliosis, Hernia, Ovoid thoracolumbar vertebrae, Beaking of ...	OMIM:252930
Disabling Pansclerotic Morphea Of Childhood	Lymphopenia, Oral ulcer, Joint contracture, Neutropenia, Elevated circulating C-reactive protein ...	OMIM:620443
Cerebrofaciothoracic Dysplasia	Narrow chest, Cleft upper lip, Downslanted palpebral fissures, Thick eyebrow, Vertebral segmentat...	ORPHA:1394
Hepatoportal Sclerosis	Hypoalbuminemia, Hypersplenism, Leukopenia, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, A...	ORPHA:64743
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Abnormal paranasal sinus morphology, Lymphopenia, Hypoproteinemia	OMIM:207731
Omenn Syndrome	Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia...	OMIM:603554
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Hypochromia, Po...	OMIM:615234
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Lacrimoauriculodentodigital Syndrome 2	Conical tooth, Carious teeth, Lacrimal duct aplasia, Lacrimal duct atresia, Absent lacrimal punct...	OMIM:620192
Oslam Syndrome	Anemia, Radioulnar synostosis, Radial deviation of finger, Clinodactyly	OMIM:165660
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic acetabulae, Hypoplastic ilia, Lumba...	OMIM:169550
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp...	OMIM:603909
Generalized Pustular Psoriasis	Hypoalbuminemia, Lymphopenia, Obesity, Leukocytosis, Hypocalcemia, Hyponatremia, Arthritis, Geogr...	ORPHA:247353
Snakebite Envenomation	Gingival bleeding, Hyponatremia, Thrombocytopenia	ORPHA:449285
Aymé-Gripp Syndrome	Reduced arm span, Limitation of joint mobility, Delayed cranial suture closure, Narrow mouth, Con...	ORPHA:1272
Sapho Syndrome	Craniofacial osteosclerosis, Osteomyelitis, Recurrent fractures, Hyperostosis, Synovitis, Abnorma...	ORPHA:793
Autosomal Dominant Centronuclear Myopathy	Thin ribs, Proximal muscle weakness in upper limbs, Abnormality of the foot musculature, Difficul...	ORPHA:169189
Bardet-Biedl Syndrome 20	Preaxial foot polydactyly, Obesity, 2-3 toe syndactyly, Postaxial polydactyly, Hypercholesterolem...	OMIM:619471
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid...	ORPHA:567548
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess, Neutropenia, B lymp...	OMIM:150550
Bernard-Soulier Syndrome	Gingival bleeding, Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggreg...	OMIM:231200
Acrofacial Dysostosis, Cincinnati Type	Median pseudocleft lip, Micrognathia, Decreased body weight, Epicanthus, High palate, Short nose,...	OMIM:616462
Trichothiodystrophy 3, Photosensitive	Carious teeth, Natal tooth, Failure to thrive, Lymphopenia, Neutropenia, Ectropion, Eclabion	OMIM:616395
Bone Marrow Failure Syndrome 6	Osteopenia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Recurren...	OMIM:618849
Crouzon Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Dental crowding...	OMIM:123500
Von Willebrand Disease	Abnormality of thrombocytes, Deviation of finger, Microcytic anemia, Thrombocytopenia, Joint hemo...	ORPHA:903
Floating-Harbor Syndrome	Carious teeth, Broad thumb, Short neck, Broad fingertip, Dislocated radial head, Cone-shaped epip...	OMIM:136140
Neurofaciodigitorenal Syndrome	Abnormal oral mucosa morphology, Hypoplasia of the premaxilla, Downslanted palpebral fissures, Ab...	ORPHA:2673
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal femoral torsion, Downslanted palpebral fissures, Tibial torsion, Long hallux, Large for ...	ORPHA:500095
Cutis Laxa, Autosomal Recessive, Type Iic	Hand clenching, Overlapping toe, Narrow mouth, Reduced subcutaneous adipose tissue, Decreased bod...	OMIM:617402
Gray Platelet Syndrome	Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia	ORPHA:721
Prune Belly Syndrome	Congenital hip dislocation, Failure to thrive, Vertebral segmentation defect, Talipes equinovarus...	ORPHA:2970
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Wide nasal bridge, Conical tooth, Widely spaced teeth, Downslanted palpebral fissures, Micrognath...	ORPHA:90024
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Hepatosplenomegaly, Thrombocytopenia, Increased circulating ferritin concentration	ORPHA:210136
Acute Promyelocytic Leukemia	Gingival bleeding, Pancytopenia, Gingival overgrowth, Leukopenia, Leukocytosis, Weight loss, Neut...	ORPHA:520
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Trochlea Of The Humerus, Aplasia Of	Short humerus, Cleft palate	OMIM:191000
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Aicardi-Goutieres Syndrome 4	Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:610333
Slc35A1-Cdg	Cellulitis, Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:614025
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia, Ataxia	OMIM:249270
Fryns Syndrome	Thin ribs, Joint contracture of the hand, Short neck, Blepharophimosis, Narrow palpebral fissure,...	OMIM:229850
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Thrombocytopenia 9	Abnormal platelet aggregation, Thrombocytopenia	OMIM:620478
Primary Hyperoxaluria	Generalized osteosclerosis, Recurrent fractures, Hyperoxaluria	ORPHA:416
Icf Syndrome	Umbilical hernia, Lymphopenia, Micrognathia, Protruding tongue, Epicanthus, Anemia, Macroglossia,...	ORPHA:2268
Psoriasis 14, Pustular	Polyarticular arthritis, Furrowed tongue, Leukocytosis, Oligoarthritis, Geographic tongue, Neutro...	OMIM:614204
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Thin ribs, Osteopenia, Congenital hip dislocation, Progressive congenital scoliosis, Dental crowd...	OMIM:225400
Restrictive Dermopathy 1	Natal tooth, Increased anterioposterior diameter of thorax, Micrognathia, Narrow mouth, Sparse ey...	OMIM:275210
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Long philtrum, Dysmetria, Thrombocytopenia, Ataxia, Athetosis	OMIM:617710
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation	OMIM:124900
Immunodeficiency 9	Failure to thrive, Difficulty walking, Lymphopenia, Recurrent aphthous stomatitis, Hypoplasia of ...	OMIM:612782
Cranioectodermal Dysplasia 3	2-4 toe syndactyly, Rhizomelia, Narrow chest, Sandal gap, Widely spaced teeth, Telecanthus, Micro...	OMIM:614099
Axenfeld-Rieger Syndrome, Type 2	Wide nasal bridge, Hypoplasia of the maxilla, Umbilical hernia, Telecanthus, Inguinal hernia, Mic...	OMIM:601499
Parathyroid Carcinoma	Chondrocalcinosis, Lipoma, Hypophosphatemia, Weight loss, Osteoporosis, Hypercalcemia, Mandibular...	ORPHA:143
Zika Virus Disease	Ankle swelling, Wrist swelling, Arthritis, Thrombocytopenia, Conjunctivitis	ORPHA:448237
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Failure to thrive, Decreased HDL cholesterol concentration, Hyperbilirubinemi...	OMIM:605814
Immunodeficiency 98 With Autoinflammation, X-Linked	Hemophagocytosis, Agranulocytosis, Recurrent aphthous stomatitis, Autoimmune hemolytic anemia, Sp...	OMIM:301078
Aceruloplasminemia	Blepharospasm, Decreased circulating iron concentration, Increased circulating ferritin concentra...	ORPHA:48818
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Xanthelasma, Increased LDL cholesterol concentration, Go...	ORPHA:412
Yunis-Varon Syndrome	Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Micrognathia, Bilateral single transverse pal...	OMIM:216340
Infantile Nephropathic Cystinosis	Rickets, Hypokalemia, Hypophosphatemia, Abnormal blood ion concentration, Growth delay	ORPHA:411629
Enlarged Parietal Foramina	Broad thumb, Cleft lip, Short clavicles, Craniosynostosis, Cleft palate	ORPHA:60015
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Ataxia	OMIM:613839
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Thrombocytopenia, Abnormal neutrophil co...	ORPHA:3226
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Abnormal vertebral morphology, Small hand, Micrognathia, High palate, Short nose, Downturned corn...	ORPHA:444077
Vertebral Hypersegmentation And Orofacial Anomalies	Unilateral cleft lip, Micrognathia, Inguinal hernia, Submucous cleft hard palate, Joint hypermobi...	OMIM:619122
Primary Biliary Cholangitis	Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Splenomegaly, Hypercholes...	ORPHA:186
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Tafro Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentra...	ORPHA:457077
X-Linked Intellectual Disability, Porteous Type	Short philtrum, Hypoplasia of the maxilla, Mandibular prognathia, Decreased body weight	ORPHA:93945
Reni Syndrome	Hypoalbuminemia, Ataxia, Lymphopenia, Ptosis, Hypertriglyceridemia	OMIM:617575
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Kyphosis, Short 4th toe, Failure to thrive, Short humerus, Short neck, Brac...	ORPHA:420794
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Failure to thrive, Lymphopenia, Sinusitis, B lymphocytopenia, T lymphocytopenia	ORPHA:277
Vici Syndrome	Everted upper lip vermilion, Long philtrum, Cleft upper lip, Failure to thrive, Lymphopenia, Leuk...	OMIM:242840
Marden-Walker Syndrome	Micrognathia, Narrow mouth, Arachnodactyly, Radioulnar synostosis, Talipes, Blepharophimosis, Pec...	ORPHA:2461
Skin Creases, Congenital Symmetric Circumferential, 2	Carious teeth, Micrognathia, Narrow mouth, Epicanthus, Short neck, Pes planus, Blepharophimosis, ...	OMIM:616734
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly,...	ORPHA:169154
Spondylocostal Dysostosis 1, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosis, Rib fusion, Vertebral segm...	OMIM:277300
Mucopolysaccharidosis, Type Iiia	Umbilical hernia, Joint stiffness, Splenomegaly, Inguinal hernia, Ovoid thoracolumbar vertebrae, ...	OMIM:252900
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen...	OMIM:614172
Methylmalonic Aciduria, Cbla Type	Failure to thrive, Pancytopenia, Hyperglycinemia, Hyperammonemia, Thrombocytopenia, Neutropenia, ...	OMIM:251100
Reticular Dysgenesis	Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus	OMIM:267500
Hutchinson-Gilford Progeria Syndrome	Limitation of joint mobility, Ankyloglossia, Limited hip movement, Micrognathia, Short lingual fr...	ORPHA:740
Brucellosis	Hip osteoarthritis, Septic arthritis, Granuloma, Failure to thrive, Sacroiliac arthritis, Osteomy...	ORPHA:1304
Ataxia-Telangiectasia	Ataxia, Elevated circulating alpha-fetoprotein concentration, Dysdiadochokinesis, Failure to thri...	OMIM:208900
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri...	OMIM:619271
Immunodeficiency 105	Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho...	OMIM:619924
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Anemia, Hypochromic Microcytic, With Iron Overload 1	Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir...	OMIM:206100
Hyperparathyroidism-Jaw Tumor Syndrome	Chondrocalcinosis, Lipoma, Hypophosphatemia, Osteoporosis, Hypercalcemia, Mandibular pain	ORPHA:99880
Carpenter Syndrome 2	Carious teeth, Broad thumb, Cutaneous finger syndactyly, Epicanthus, Talipes equinovarus, Short n...	OMIM:614976
Lysinuric Protein Intolerance	Intraalveolar phospholipid accumulation, Hemophagocytosis, Failure to thrive, Increased circulati...	OMIM:222700
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Arthritis, Thrombocytopenia	OMIM:152700
Cowden Syndrome 5	Hypoplasia of the maxilla, Subcutaneous lipoma, Furrowed tongue, Micrognathia, Narrow mouth, Palm...	OMIM:615108
Isolated Cleft Lip	Small for gestational age, Velopharyngeal insufficiency, Umbilical hernia, Supernumerary maxillar...	ORPHA:199302
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Pathologic fracture, Increased susceptibility to fractures, Tibial bowing, Joint hype...	OMIM:259770
Hemochromatosis, Neonatal	Abnormality of iron homeostasis, Increased circulating iron concentration, Increased circulating ...	OMIM:231100
Wiskott-Aldrich Syndrome	Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia...	ORPHA:906
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Lacrimal duct aplasia, Short thumb, Widely spaced teeth, Absent lacrimal punctum, ...	OMIM:620193
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:99901
Purine Nucleoside Phosphorylase Deficiency	Ataxia, Hypouricemia, Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decre...	ORPHA:760
Preeclampsia	Elevated circulating creatinine concentration, Small for gestational age, Thrombocytopenia	ORPHA:275555
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Decreased circulating apolipoprote...	OMIM:207750
Lipodystrophy, Familial Partial, Type 7	Small for gestational age, Failure to thrive, Decreased adipose tissue around neck, Gait ataxia, ...	OMIM:606721
Pseudo-Torch Syndrome 3	Anemia, Leukocytosis, Congenital thrombocytopenia, Increased circulating ferritin concentration	OMIM:618886
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Narrow chest, Failure to thrive, Lateral clavicle hook, Preaxial polydactyly, Thoracic dysplasia,...	OMIM:615503
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Failure to thrive in infancy, Leukocytosis, Joint swelling, Increased proportion of CD4-positive ...	OMIM:617099
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Abnormality of the vertebral column, Cleft upper lip, Micrognathia, Sprengel anomaly, Abnormal ri...	OMIM:601076
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Steatorrhea, Increased circulating free fatty acid level, Hypophosphatemia	OMIM:605911
Von Willebrand Disease, Platelet-Type	Intermittent thrombocytopenia	OMIM:177820
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Tapered finger, Short humerus, Short femur	OMIM:618367
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Cockayne Syndrome A	Atypical scarring of skin, Carious teeth, Dental malocclusion, Square pelvis bone, Failure to thr...	OMIM:216400
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Arachnodactyly, Epicanthus, Short nose, Hypoplasia of the maxilla, Sparse eyebrow, Absent thumb, ...	ORPHA:500150
Gm1-Gangliosidosis, Type I	Joint stiffness, Gingival overgrowth, Splenomegaly, Inguinal hernia, Hypoplastic vertebral bodies...	OMIM:230500
Hypomandibular Faciocranial Dysostosis	Coronal craniosynostosis, Hypoplasia of the maxilla, Pursed lips, Aglossia, Micrognathia, Malar f...	OMIM:241310
Cowden Syndrome 6	Hypoplasia of the maxilla, Subcutaneous lipoma, Furrowed tongue, Micrognathia, Narrow mouth, Palm...	OMIM:615109
Vacterl/Vater Association	Aplasia/Hypoplasia of the radius, Finger syndactyly, Preaxial hand polydactyly, Congenital diaphr...	ORPHA:887
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Obesity, Eunuchoid h...	ORPHA:2234
Mucopolysaccharidosis Type 2, Severe Form	Wide nasal bridge, Abnormal vertebral morphology, Limitation of joint mobility, Camptodactyly of ...	ORPHA:217085
Primary Fanconi Renotubular Syndrome	Hypouricemia, Decreased circulating carnitine concentration, Osteomalacia, Hypophosphatemic ricke...	ORPHA:3337
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Cellulitis, Lymphopenia, Hepatosplenomegaly...	OMIM:618986
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Osteomalacia, Hypocalcemic seizures, Hypercalcemia	ORPHA:405
Ulnar-Mammary Syndrome	Hypoplastic scapulae, Short 5th toe, Absent radius, Short 5th finger, Obesity, Inguinal hernia, H...	OMIM:181450
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Amelogenesis imperfecta, Thrombocytopenia, Hypocalcification of dental enamel, Hemo...	ORPHA:169090
Idiopathic Hypereosinophilic Syndrome	Ankle swelling, Failure to thrive, Swelling of proximal interphalangeal joints, Hepatosplenomegal...	ORPHA:3260
8P11.2 Deletion Syndrome	Micrognathia, Upslanted palpebral fissure, Splenomegaly, Supernumerary ribs, Epicanthus, Talipes ...	ORPHA:251066
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating iron concentration, Increased circulating ferritin concentration, Hepatospl...	ORPHA:300298
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Downslanted palpebral fissures, Telecanthus, Malar flattening, Ulnar d...	OMIM:122880
Pancreatic Agenesis-Holoprosencephaly Syndrome	Hypoamylasemia, Hypoplasia of the zygomatic bone, Solitary median maxillary central incisor, Redu...	ORPHA:556955
Necrotizing Enterocolitis	Leukocytosis, Hyponatremia, Thrombocytopenia, Neutropenia, Small for gestational age	ORPHA:391673
Acquired Purpura Fulminans	Elevated circulating C-reactive protein concentration, Thrombocytopenia	ORPHA:49566
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Immunodeficiency, Common Variable, 12, With Autoimmunity	Thrombocytopenia, Autoimmune hemolytic anemia, Recurrent sinusitis	OMIM:616576
Mucopolysaccharidosis Type 2, Attenuated Form	Wide nasal bridge, Abnormal vertebral morphology, Limitation of joint mobility, Camptodactyly of ...	ORPHA:217093
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Joint contracture of the hand, Carpal synostosis, Humeroradial synostosis, Broad foot, Decreased ...	OMIM:201750
Cholestasis, Progressive Familial Intrahepatic, 8	Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir...	OMIM:619662
Vexas Syndrome	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Arthritis, Macrocytic an...	OMIM:301054
Caudal Regression Syndrome	Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Joint stiffness, Missin...	ORPHA:3027
Shigellosis	Microangiopathic hemolytic anemia, Failure to thrive in infancy, Abnormal blood ion concentration...	ORPHA:810
Ankyloglossia With Or Without Tooth Anomalies	Ankyloglossia, Supernumerary tooth	OMIM:106280
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Dyskeratosis Congenita, X-Linked	Carious teeth, Oral leukoplakia, Pterygium, Pancytopenia, Leukopenia, Sparse eyelashes, Acute mye...	OMIM:305000
Thyrocerebroretinal Syndrome	Thrombocytopenia, Ataxia	OMIM:274240
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Thrombocytopenia	ORPHA:49827
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,...	OMIM:245480
Hypercholesterolemia, Familial, 3	Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Tufted Angioma	Anemia, Hemangioma of the lip, Thrombocytopenia	ORPHA:1063
Axenfeld-Rieger Syndrome	Wide nasal bridge, Hypoplasia of the maxilla, Telecanthus, Microdontia, Hypodontia, Everted lower...	ORPHA:782
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Failure to thrive, Lymphopenia, Hepatosplenomegaly, Decreased proportion o...	ORPHA:331206
Ablepharon Macrostomia Syndrome	Hypoplasia of the maxilla, Toe syndactyly, Hypoplasia of the zygomatic bone, Camptodactyly of fin...	ORPHA:920
Lacrimoauriculodentodigital Syndrome	Carious teeth, Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Keratoconjunctiviti...	ORPHA:2363
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Ataxia, Lymphopenia, Pancytopenia, Aphthous ulcer, Hepatosplenomegaly, Leukopenia, Recurrent sinu...	OMIM:615688
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Increased circulating ferritin concentration, Leukocyto...	ORPHA:829
Cutis Laxa, Autosomal Recessive, Type Ib	Retrognathia, Downslanted palpebral fissures, Micrognathia, Congenital diaphragmatic hernia, Ingu...	OMIM:614437
Sepsis In Premature Infants	Leukocytosis, Splenomegaly, Decreased body weight, Elevated circulating C-reactive protein concen...	ORPHA:90051
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Clubbing, Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia	OMIM:620367
Turner Syndrome Due To Structural X Chromosome Anomalies	Micrognathia, Genu valgum, Epicanthus, Short neck, Pes planus, Splayed toes, High palate, Abnorma...	ORPHA:99413
Herpes Simplex Virus Encephalitis	Elevated circulating C-reactive protein concentration, Hyponatremia, Leukocytosis, Neutrophilia	ORPHA:1930
Mosaic Monosomy X	Micrognathia, Genu valgum, Epicanthus, Short neck, Pes planus, Splayed toes, High palate, Abnorma...	ORPHA:99228
Monosomy X	Micrognathia, Genu valgum, Epicanthus, Short neck, Pes planus, Splayed toes, High palate, Abnorma...	ORPHA:99226
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Lower limb dysmetria, Abnormality of the sphenoid sinus, Abnormal tibia morphology, Micrognathia,...	ORPHA:363700
Turner Syndrome	Micrognathia, Genu valgum, Epicanthus, Short neck, Pes planus, Splayed toes, High palate, Abnorma...	ORPHA:881
Immunodeficiency 82 With Systemic Inflammation	Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating total IgG, Osteomalacia...	OMIM:619381
Isovaleric Acidemia	Pancytopenia, Leukopenia, Thrombocytopenia	OMIM:243500
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Neonatal Lupus Erythematosus	Aplastic anemia, Pancytopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hemolytic anemia	ORPHA:398124
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,...	OMIM:235400
Pediatric-Onset Graves Disease	Failure to thrive, Splenomegaly, Abnormal eyelid morphology, Thrombocytopenia, Neutropenia in pre...	ORPHA:525731
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll...	OMIM:620486
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hypoplasia of the maxilla, Carious teeth, Sparse eyebrow, Toe syndactyly, Selective tooth agenesi...	OMIM:604292
Treacher Collins Syndrome 3	Hypoplasia of the zygomatic bone, Downslanted palpebral fissures, Micrognathia, Lower eyelid colo...	OMIM:248390
Hoyeraal-Hreidarsson Syndrome	Oral leukoplakia, Failure to thrive, Abnormal leukocyte morphology, Thrombocytopenia, Ataxia, Anemia	ORPHA:3322
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Recurr...	OMIM:615518
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m...	ORPHA:90362
Wilson Disease	Hypouricemia, Hypoalbuminemia, Osteomalacia, Hemolytic anemia, Hyperbilirubinemia, Splenomegaly, ...	OMIM:277900
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Thrombocytopenia, Hypochromic microcytic anemia, Increased circulating ferritin concentration	ORPHA:3240
Fetal Cytomegalovirus Syndrome	Anemia, Conjugated hyperbilirubinemia, Splenomegaly, Thrombocytopenia	ORPHA:294
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Palmoplantar keratoderma, Palmoplantar hyperhidrosis, Hypercholesterolemia, Hypertriglyceridemia,...	OMIM:610644
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Deformed humerus, Micrognathia, Mandibular condyle hypoplasia, Disl...	ORPHA:2975
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Thrombocytopenia, Small for gestational age, Normochromic anemia, Elevated circulating creatine k...	OMIM:618775
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Long philtrum, Thick lower lip vermilion, Narrow mouth, Dysmetria, Mesiodens, Ataxia, Palpebral e...	ORPHA:314647
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Osteopenia, Broad thumb, Failure to thrive, Knee dislocation, Increased circulat...	OMIM:619534
X-Linked Mandibulofacial Dysostosis	Hypoplasia of the zygomatic bone, Downslanted palpebral fissures, Micrognathia, Epicanthus, Ptosi...	ORPHA:1131
Sting-Associated Vasculopathy, Infantile-Onset	Failure to thrive, Lymphopenia, Leukopenia, Joint stiffness, Elevated circulating C-reactive prot...	OMIM:615934
Pediatric Systemic Lupus Erythematosus	Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Oral ulcer, Thrombocytopenia, Arthritis	ORPHA:93552
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Hypoplasia of the maxilla, Carious teeth, Sparse eyebrow, Toe syndactyly, Selective tooth agenesi...	OMIM:129900
Sea-Blue Histiocytosis	Splenomegaly, Blepharitis, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Elevated circulating palmitoleylcarnitine concentration, Failure to thrive, Hyperammonemi...	ORPHA:79282
Low Phospholipid-Associated Cholelithiasis	Obesity, Overweight, Hypercholesterolemia, Liver abscess	ORPHA:69663
Immunodeficiency With Hyper-Igm, Type 1	Failure to thrive, Splenomegaly, Oral ulcer, Ankle clonus, Neutropenia, Thrombocytopenia, Gingivi...	OMIM:308230
Hypermanganesemia With Dystonia 1	Polycythemia, Increased total iron binding capacity, Steppage gait, Hypermanganesemia, Unconjugat...	OMIM:613280
Roberts-Sc Phocomelia Syndrome	Clinodactyly, Hyperplasia of the maxilla, Micrognathia, Short neck, Abnormal metacarpal morpholog...	OMIM:268300
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm...	OMIM:615193
Wars2-Related Combined Oxidative Phosphorylation Defect	Wide nasal bridge, Difficulty walking, Positional foot deformity, Dysmetria, Thin upper lip vermi...	ORPHA:572798
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Pectus excavatum, Malar flattening, Hypoplasia of the zygomatic bone, Short nose	ORPHA:2835
Hereditary Folate Malabsorption	Failure to thrive, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Glossitis,...	ORPHA:90045
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Weight loss, Elevated circulating C-reactive protein concentration, Neutrophilia, ...	ORPHA:54251
Microgastria-Limb Reduction Defect Syndrome	Aplastic clavicle, Elbow dislocation, Short thumb, Ectrodactyly, Oligodactyly, Abnormality of the...	ORPHA:2538
Cryptogenic Organizing Pneumonia	Elevated circulating C-reactive protein concentration, Weight loss, Leukocytosis, Neutrophilia	ORPHA:1302
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Palmoplantar keratoderma, Hypoplasia of the zygomatic bone, Tooth agenesis, Downslanted palpebral...	ORPHA:1555
Boutonneuse Fever	Abnormality of the plantar skin of foot, Leukopenia, Abnormal skin morphology of the palm, Thromb...	ORPHA:83313
Kikuchi-Fujimoto Disease	Ataxia, Leukopenia, Enlargement of parotid gland, Splenomegaly, Oral ulcer, Lymphocytosis, Weight...	ORPHA:50918
Cardiospondylocarpofacial Syndrome	Carpal synostosis, Congenital diaphragmatic hernia, Epicanthus, Tarsal synostosis, Short foot, Fu...	OMIM:157800
Microphthalmia, Syndromic 1	Tooth malposition, Joint contracture of the hand, Clinodactyly, High palate, Syndactyly, High, na...	OMIM:309800
Insulin-Resistance Syndrome Type B	Hypoalbuminemia, Hypotriglyceridemia, Abnormal circulating lipid concentration, Leukopenia, Decre...	ORPHA:2298
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Obesity, Hypertriglyceridemia	ORPHA:209902
1P36 Deletion Syndrome	Delayed cranial suture closure, Abnormality of the spleen, Narrow mouth, Epicanthus, Foot polydac...	ORPHA:1606
Mucopolysaccharidosis, Type Iiib	Joint stiffness, Splenomegaly, Ovoid thoracolumbar vertebrae, Synophrys, Thickened ribs, Dense ca...	OMIM:252920
Restrictive Dermopathy	Thin ribs, Natal tooth, Structural foot deformity, Increased anterioposterior diameter of thorax,...	ORPHA:1662
Charge Syndrome	Abnormal tibia morphology, Narrow mouth, Talipes, Epicanthus, Eyelid coloboma, Polydactyly, Brach...	ORPHA:138
Tooth Agenesis, Selective, 3	Oligodontia, Agenesis of permanent molar, Oligodontia of primary teeth, Microdontia	OMIM:604625
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Hypoalbuminemia, Lymphopenia, Abnormal lymphocyte morpholo...	ORPHA:99826
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Gait ataxia, Thrombocytopenia, Unsteady gait, Normochromic anemia	OMIM:254900
Immunodeficiency 23	Failure to thrive, Lymphopenia, Abscess, Joint hypermobility, Eosinophilia, Neutropenia, Ataxia, ...	OMIM:615816
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Severe Congenital Nemaline Myopathy	Thin ribs, Abnormal thorax morphology, Increased connective tissue, Adducted thumb, Multiple pren...	ORPHA:171430
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612926
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Lacrimoauriculodentodigital Syndrome 1	Bilateral triphalangeal thumbs, Carious teeth, Lacrimal gland hypoplasia, Delayed eruption of pri...	OMIM:149730
Combined Oxidative Phosphorylation Deficiency 14	Anemia, Elevated hepatic iron concentration, Thrombocytopenia	OMIM:614946
Pearson Marrow-Pancreas Syndrome	Failure to thrive, Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Refractory sideroblast...	OMIM:557000
Macrocephaly/Autism Syndrome	Long philtrum, Lymphopenia, Obesity, Large for gestational age, Splenomegaly, Joint hypermobility...	OMIM:605309
Castleman Disease	Weight loss, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Anemia, Mye...	ORPHA:160
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Thoracolumbar kyphosis, Broad-based gait, Abnormality of the spleen, Hepatosplenomegaly, Pancytop...	ORPHA:2072
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612925
Trichorhinophalangeal Syndrome, Type Ii	Rib exostoses, Carious teeth, Hyperplasia of the maxilla, Micrognathia, Lumbar scoliosis, Thoraco...	OMIM:150230
Spastic Paraplegia 9A, Autosomal Dominant	Abnormal pelvic girdle bone morphology, Pes cavus, Gait ataxia, Hiatus hernia, Carpal bone hypopl...	OMIM:601162
Immunodeficiency 87 And Autoimmunity	Lymphopenia, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Decreased proportion of CD4-po...	OMIM:619573
Idiopathic Aplastic Anemia	Gingival bleeding, Pancytopenia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Anemia	ORPHA:88
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Broad ribs, Short ribs, Epicanthus, Abnormal rib morphology, Postaxi...	ORPHA:2519
Digeorge Syndrome	Micrognathia, Intervertebral disk degeneration, Blepharophimosis, Patellar dislocation, High pala...	OMIM:188400
Spondylocostal Dysostosis 4, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Bell-shaped thorax, Vertebral segmentation...	OMIM:613686
Autoinflammatory Disease, Systemic, With Vasculitis	Failure to thrive, Parotitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Oral ulcer, Increas...	OMIM:620376
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612924
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Abnormal vertebral morphology, Abnormality of the vertebral column, Short humerus, Hand polydacty...	OMIM:314390
Sprengel Deformity	Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s...	OMIM:184400
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Cellulitis, Failure to thrive, Lymphocytosis, Thrombocytopenia, E...	OMIM:617718
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Cystathioninemia, Failure to thrive, Hypomethioninemia, Smooth philtrum, Megaloblastic anemia, Hy...	OMIM:277400
Focal Dermal Hypoplasia	Toe syndactyly, Midclavicular aplasia, Congenital diaphragmatic hernia, Foot polydactyly, Short m...	OMIM:305600
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis...	OMIM:274150
Nijmegen Breakage Syndrome	Acute leukemia, Retrognathia, Upslanted palpebral fissure, Autoimmune hemolytic anemia, Cachexia,...	ORPHA:647
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Wide nasal bridge, Bifid uvula, Sparse eyebrow, Carious teeth, Natal tooth, Downturned corners of...	OMIM:620186
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Eversion of lateral third of lower eyelids, Osteopenia, Broad-based gait, Decreased circulating i...	ORPHA:438213
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Carious teeth, Abnormal circulating selenium concentration, Foot joint contracture, A...	ORPHA:79408
Aregenerative Anemia	Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos...	ORPHA:101096
Sweet Syndrome	Leukocytosis, Chronic lymphatic leukemia, Abnormality of the hand, Acute myeloid leukemia, Oligoa...	ORPHA:3243
Coccidioidomycosis	Atypical scarring of skin, Granuloma, Abnormality of the vertebral column, Abnormality of the spl...	ORPHA:228123
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Polycythemia, Increased total iron binding capacit...	ORPHA:309854
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Lymphopenia, Osteopenia, Thrombocytopenia	OMIM:620365
Lujo Hemorrhagic Fever	Stiff neck, Lymphopenia, Leukopenia, Leukocytosis, Thrombocytopenia, Elevated circulating C-react...	ORPHA:319213
Pallister-Hall Syndrome	Toe syndactyly, Natal tooth, Broad thumb, Radial bowing, Polydactyly affecting the 4th finger, Ov...	ORPHA:672
Parietal Foramina With Cleidocranial Dysplasia	Short clavicles, Widely patent fontanelles and sutures	OMIM:168550
Multiple Mitochondrial Dysfunctions Syndrome 7	Gingival overgrowth, Hyperglycinemia, Open mouth, Ankle clonus, Thrombocytopenia, Hypernatremia	OMIM:620423
Spondylocostal Dysostosis 2, Autosomal Recessive	Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae	OMIM:608681
Adult Idiopathic Neutropenia	Lymphopenia, Recurrent aphthous stomatitis, Neutropenia, Monocytosis, Monocytopenia	ORPHA:2688
Stt3B-Cdg	Failure to thrive, Thrombocytopenia	ORPHA:370924
Congenital Disorder Of Glycosylation, Type Ix	Failure to thrive, Thrombocytopenia	OMIM:615597
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R...	ORPHA:90038
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Failure to thrive in i...	OMIM:619510
Ablepharon-Macrostomia Syndrome	Toe syndactyly, Hypoplasia of the zygomatic bone, Cryptophthalmos, Hypoplasia of eyelid, Cutaneou...	OMIM:200110
Staphylococcal Necrotizing Pneumonia	Elevated circulating C-reactive protein concentration, Leukopenia, Leukocytosis, Neutrophilia	ORPHA:36238
Japanese Encephalitis	Genu recurvatum, Distal upper limb muscle weakness, Elbow flexion contracture, Stiff neck, Hypona...	ORPHA:79139
Familial Adenomatous Polyposis 1	Carious teeth, Keloids, Eruption failure, Multiple lipomas, Odontoma, Supernumerary tooth	OMIM:175100
Branchiooculofacial Syndrome	Micrognathia, Short neck, Atypical scarring of skin, Preaxial hand polydactyly, Nasolacrimal duct...	OMIM:113620
Proteus Syndrome	Rib exostoses, Carious teeth, Finger syndactyly, Open mouth, Cachexia, Abnormal metacarpal morpho...	ORPHA:744
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Failure to thrive, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, Elevated ...	OMIM:251880
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Hypoplasia of the thymus, Enamel hypoplas...	OMIM:243150
Myh9-Related Disease	Neutrophil inclusion bodies, Giant platelets, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Failure to thrive in infancy, Hepatosplenomegaly, Pancyto...	ORPHA:79124
Paroxysmal Nocturnal Hemoglobinuria	Decreased circulating iron concentration, Conjunctival icterus, Pancytopenia, Leukopenia, Erythro...	ORPHA:447
Bleeding Disorder, Platelet-Type, 17	Myelofibrosis, Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Mac...	OMIM:187900
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Hypoplasia of the maxilla, Micrognathia, Failure to thrive	OMIM:301108
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concentration, Pa...	ORPHA:77293
Thrombocytopenia, Anemia, And Myelofibrosis	Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia, Myelofibrosis	OMIM:617441
Steinert Myotonic Dystrophy	Abnormality of the tongue muscle, Falls, Bilateral ptosis, Inability to walk, Shoulder girdle mus...	ORPHA:273
Gardner Syndrome	Abnormality of the dentition, Keloids, Multiple unerupted teeth, Odontoma, Lipoma, Supernumerary ...	ORPHA:79665
Lethal Congenital Contracture Syndrome 5	Thin ribs, Congenital contracture, Elevated circulating creatine kinase concentration, Flexion co...	OMIM:615368
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyelashes, Absent eyebrow, Hypercholesterolemia, Hypertriglyceridemia, Lipoatrophy	ORPHA:363618
Legionnaires Disease	Cellulitis, Lymphopenia, Splenomegaly, Hyponatremia, Ataxia	ORPHA:549
Letterer-Siwe Disease	Hepatosplenomegaly, Neutropenia, Thrombocytopenia, Anemia, Stomatitis	OMIM:246400
Immune Thrombocytopenia	Gingival bleeding, Thrombocytopenia	ORPHA:3002
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Abnormality of the cervical spine, Superior rib anomalies	OMIM:307500
Septopreoptic Holoprosencephaly	Abnormal vertebral morphology, Abnormal rib morphology	ORPHA:280195
Loeys-Dietz Syndrome 1	Micrognathia, Arachnodactyly, Talipes equinovarus, Pes planus, High palate, Pectus carinatum, Dow...	OMIM:609192
Liver Disease, Severe Congenital	Failure to thrive, Increased circulating ferritin concentration, Umbilical hernia, Leukopenia, Mi...	OMIM:619991
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Good Syndrome	Abnormal leukocyte morphology, Ptosis, Thrombocytopenia, Sinusitis, Anemia	ORPHA:169105
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Narrow chest, Micromelia, Preaxial polydactyly, Hamartoma of tongue, Congenita...	OMIM:616546
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Cachexia, Abnormal form of the vertebral bodies, Abnormal rib morphology	ORPHA:93941
Sarcoidosis	Enlarged lacrimal glands, Parotitis, Leukopenia, Hypercalcemia, Enlargement of parotid gland, Joi...	ORPHA:797
Fraser Syndrome	Wide nasal bridge, Toe syndactyly, Dental crowding, Dental malocclusion, Cleft upper lip, Lacrima...	ORPHA:2052
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Intraalveolar phospholipid accumulation, Leukocytosis, Autoimmune hemolytic anemia,...	OMIM:620565
Apparent Mineralocorticoid Excess	Hypokalemia, Small for gestational age, Failure to thrive, Decreased circulating renin level	OMIM:218030
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Abnormal oral mucosa morphology, Hypoplasia of the maxilla, Conical tooth, Sparse eyebrow, Everte...	OMIM:305100
Cleft Velum	Hypoplasia of the maxilla, Cleft soft palate, Velopharyngeal insufficiency	ORPHA:99772
Tick-Borne Encephalitis	Stiff neck, Leukopenia, Leukocytosis, Thrombocytopenia, Elevated circulating C-reactive protein c...	ORPHA:297
Gaucher Disease, Type Ii	Failure to thrive, Splenomegaly, Thrombocytopenia, Trismus, Anemia	OMIM:230900
Hypohidrotic Ectodermal Dysplasia	Abnormality of the dentition, Hypoplasia of the maxilla, Failure to thrive, Tooth agenesis, Abnor...	ORPHA:238468
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Vertebral segmentation defect, Short neck, Abnormal rib morphology	ORPHA:2578
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni...	OMIM:300539
Bleeding Disorder, Platelet-Type, 21	Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa...	OMIM:617443
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Gray Platelet Syndrome	Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ...	OMIM:139090
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Thin ribs, High palate, Retrognathia, Joint hypermobility	ORPHA:456328
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Hypomagnesemia, Obesity, Weight loss, Transient hypophosphatemia, Hyperkale...	ORPHA:79102
Craniofacial Microsomia 1	Hypoplasia of the maxilla, Block vertebrae, Cleft upper lip, Cervical ribs, Micrognathia, Limbal ...	OMIM:164210
Pontine Tegmental Cap Dysplasia	Failure to thrive, Dysmetria, Ankle clonus, Rib fusion, Ptosis, Hemivertebrae, Ataxia, Scoliosis	OMIM:614688
Immunodeficiency 22	Failure to thrive, Decreased proportion of CD4-positive helper T cells, Abscess, Thrombocytopenia...	OMIM:615758
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Truncal obes...	OMIM:615812
Chromosome 1P36 Deletion Syndrome, Distal	Epicanthus, Blepharophimosis, High palate, Short foot, Short 5th finger, Downslanted palpebral fi...	OMIM:607872
Pseudo-Torch Syndrome 2	Thin ribs, Thrombocytopenia	OMIM:617397
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Gingival bleeding, Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impai...	OMIM:153670
Aicardi-Goutieres Syndrome 1	Inability to walk, Splenomegaly, Thrombocytopenia	OMIM:225750
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Anemia, Thrombocytopenia, Hypertriglyceridemia, Ectropion	ORPHA:31150
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Thrombocytopenia	OMIM:253270
Portal Hypertension, Noncirrhotic, 2	Splenomegaly, Thrombocytopenia	OMIM:619463
Thrombocytopenia 6	Osteoporosis, Myelofibrosis, Thrombocytopenia	OMIM:616937
Fusariosis	Cellulitis, Granuloma, Brain abscess, Fasciitis, Abnormality of the spleen, Lymphopenia, Osteomye...	ORPHA:228119
Hereditary Fructose Intolerance	Hypermagnesemia, Hypophosphatemia, Hyperuricemia	ORPHA:469
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypokalemia, Athetosis, Primary hyperaldosteronism, Decreased circulating renin level	OMIM:615474
Hardikar Syndrome	Unilateral cleft lip, Failure to thrive, Umbilical hernia, Hepatosplenomegaly, Cleft soft palate,...	OMIM:301068
Caroli Syndrome	Conjunctival icterus, Hypersplenism, Leukopenia, Leukocytosis, Hyperbilirubinemia, Thrombocytopen...	ORPHA:480520
Familial Adenomatous Polyposis	Abnormal cementum morphology, Abnormality of the dentition, Eruption failure, Odontoma, Lipoma, S...	ORPHA:733
Osteogenesis Imperfecta, Type Xv	Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Joint hypermobility, Scolios...	OMIM:615220
Syndromic Diarrhea	Wide nasal bridge, Lymphopenia, Splenomegaly, Inguinal hernia, Hypoplasia of the thymus, Thromboc...	ORPHA:84064
Immunodeficiency 40	T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia	OMIM:616433
Von Willebrand Disease, Type 3	Joint hemorrhage, Thrombocytopenia, Impaired platelet aggregation	OMIM:277480
Aicardi-Goutieres Syndrome 7	Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Weight loss, Thrombocyt...	OMIM:615846
Dextrocardia	Abnormality of the spleen, Congenital hip dislocation, Abnormal rib morphology, Abnormal foot mor...	ORPHA:1666
Quebec Platelet Disorder	Joint hemorrhage, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Apparent Mineralocorticoid Excess	Hypokalemia, Abnormality of circulating cortisol level, Failure to thrive, Decreased circulating ...	ORPHA:320
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Oral leukoplakia, Thrombocytopenia	OMIM:613987
Apc-Related Attenuated Familial Adenomatous Polyposis	Lipoma, Supernumerary tooth, Odontoma	ORPHA:247806
Genitopatellar Syndrome	Wide nasal bridge, Congenital hip dislocation, Delayed eruption of teeth, Downslanted palpebral f...	OMIM:606170
Catastrophic Antiphospholipid Syndrome	Thrombocytopenia, Arthritis, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia	ORPHA:464343
Myotubular Myopathy With Abnormal Genital Development	Thin ribs, High palate, Retrognathia, Joint hypermobility	OMIM:300219
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Asymmetry of the thorax, Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle ...	ORPHA:1112
Infection-Related Hemolytic Uremic Syndrome	Brain abscess, Leukocytosis, Hypocalcemia, Hyponatremia, Thrombocytopenia, Septic arthritis, Hype...	ORPHA:544482
Vater/Vacterl Association	Abnormal vertebral morphology, Short thumb, Failure to thrive, Preaxial polydactyly, Abnormal rib...	OMIM:192350
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, B lymphocytopenia, Neut...	ORPHA:391487
Familial Mediterranean Fever	Aphthous ulcer, Leukocytosis, Splenomegaly, Arthritis, Neutrophilia, Elevated circulating C-react...	OMIM:249100
Ebola Hemorrhagic Fever	Lymphopenia, Leukopenia, Thrombocytopenia	ORPHA:319218
Wiskott-Aldrich Syndrome	Gingival bleeding, Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, ...	OMIM:301000
Agammaglobulinemia 9, Autosomal Recessive	Absent circulating B cells, Failure to thrive, Thrombocytopenia	OMIM:619693
Alport Syndrome 3A, Autosomal Dominant	Hypophosphatemia, Azotemia	OMIM:104200
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Recurrent aphthous stomatitis, Hypersplenism, Decreased proportion of CD4-positive h...	ORPHA:3261
Treacher Collins Syndrome 2	Microretrognathia, Retrognathia, Hypoplasia of the zygomatic bone, Downslanted palpebral fissures...	OMIM:613717
Toxic Epidermal Necrolysis	Entropion, Weight loss, Thrombocytopenia, Neutropenia, Anemia, Conjunctivitis	ORPHA:537
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating cortiso...	ORPHA:231625
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis	OMIM:300367
Hyperaldosteronism, Familial, Type I	Hyperaldosteronism, Decreased circulating renin level	OMIM:103900
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Crimean-Congo Hemorrhagic Fever	Gingival bleeding, Parotitis, Stiff neck, Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, E...	ORPHA:99827
Stevens-Johnson Syndrome	Entropion, Weight loss, Thrombocytopenia, Anemia, Conjunctivitis, Abnormality of neutrophils	ORPHA:36426
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Platelet Disorder, Undefined	Thrombocytopenia, Impaired platelet aggregation	OMIM:173420
Liddle Syndrome 1	Hypokalemia, Decreased circulating renin level	OMIM:177200
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Splenomegal...	OMIM:602450
Ectopic Aldosterone-Producing Tumor	Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin l...	ORPHA:231632
Whim Syndrome	Cellulitis, Parotitis, Abnormal neutrophil morphology, Lymphopenia, Limb ataxia, Neutropenia, Sin...	ORPHA:51636
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Hyperaldosteronism, Decreased circulating renin level	OMIM:613677
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Difficulty walking, Hepatosplenomegaly, Eyelid coloboma, Mu...	ORPHA:51
Vascular Ehlers-Danlos Syndrome	Carious teeth, Periodontitis, Narrow mouth, Epicanthus, Abnormality of the gingiva, Talipes equin...	ORPHA:286
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Hypoplasia of the zygomatic bone, Long philtrum, Epicanthus, Hitchhiker thumb, High palate, Small...	OMIM:618500
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin l...	ORPHA:231580
Primary Sjögren Syndrome	Normocytic anemia, Parotitis, Lymphopenia, Leukopenia, Polyarticular arthropathy, Decreased propo...	ORPHA:289390
Hellp Syndrome	Microangiopathic hemolytic anemia, Hemolytic anemia, Increased body weight, Thrombocytopenia, Dec...	ORPHA:244242
Mitochondrial Complex I Deficiency, Nuclear Type 20	Thrombocytopenia	OMIM:611126
Townes-Brocks Syndrome	Toe clinodactyly, Abnormal vertebral morphology, Ulnar deviation of finger, Toe syndactyly, Broad...	ORPHA:857
Generalized Arterial Calcification Of Infancy	Osteomalacia, Abnormal hip joint morphology, Hypophosphatemic rickets, Abnormal calcification of ...	ORPHA:51608
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia	OMIM:614074
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Thin ribs, Flexion contracture, Narrow mouth, Decreased body weight	OMIM:614833
Yellow Fever	Elevated circulating creatinine concentration, Hyperbilirubinemia, Leukocytosis, Elevated circula...	ORPHA:99829
Autosomal Recessive Polycystic Kidney Disease	Hepatosplenomegaly, Micrognathia, Hypersplenism, Splenomegaly, Increased serum bile acid concentr...	ORPHA:731
Cushing Disease	Increased circulating cortisol level, Lymphopenia, Dorsocervical fat pad, Leukocytosis, Vertebral...	ORPHA:96253
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute monocytic leukemia, Impaired arachidonic acid-induced platelet aggregation, Abnormal dense ...	OMIM:601399
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Eunuchoid habitus, Hypoplasia of the maxilla, Mandibular prognathia	ORPHA:3044
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An...	ORPHA:2330
Acute Generalized Exanthematous Pustulosis	Leukocytosis, Eosinophilia, Neutropenia, Neutrophilia, Conjunctivitis, Cheilitis	ORPHA:293173
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Thin ribs, Block vertebrae, Supernumerary vertebrae, Inguinal hernia, Short ribs, Missing ribs, R...	OMIM:271520
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Failure to thrive, Decreased circulating renin level, Hypokalemia, Decreased circulating cortisol...	ORPHA:90793
Q Fever	Granuloma, Osteomyelitis, Hepatosplenomegaly, Splenomegaly, Weight loss, Thrombocytopenia, Anemia	ORPHA:781
Fructose Intolerance, Hereditary	Failure to thrive, Hyperbilirubinemia, Hyperuricemia, Hypophosphatemia, Bicarbonaturia	OMIM:229600
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating renin level	OMIM:605115
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of the premaxilla, Umbilical hernia, Micrognathia, Narrow mouth, Talipes, Orofacial cl...	ORPHA:2166
Rift Valley Fever	Gingival bleeding, Anemia, Back pain, Thrombocytopenia	ORPHA:319251
Systemic Lupus Erythematosus	Leukopenia, Oral ulcer, Abnormal pigmentation of the oral mucosa, Weight loss, Thrombocytopenia, ...	ORPHA:536
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating cortisol level, Decreased circulating renin level	ORPHA:90795
Blue Rubber Bleb Nevus	Pathologic fracture, Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Lym...	ORPHA:90363
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormality of the submandibular glands, Enlargement of parotid gland, ...	ORPHA:79078
Ulnar Agenesis And Endocardial Fibroelastosis	Finger aplasia, Aplasia of the ulna	OMIM:276822
Pneumocystosis	Abnormal neutrophil count, Weight loss	ORPHA:723
Reynolds Syndrome	Palmar telangiectasia, Lymphopenia, Hyperbilirubinemia, Splenomegaly, Calcinosis, Lip telangiecta...	OMIM:613471
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Thoracic hypoplasia, Umbilical hernia, Large for gestational age, Omphalocele, Coat hanger sign o...	ORPHA:254534
Hyperferritinemia With Or Without Cataract	Abnormal transferrin saturation, Decreased transferrin saturation, Abnormal circulating iron conc...	OMIM:600886
Hyper-Igd Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Oral ulcer, Arthritis, Neutrophilia	OMIM:260920
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Thrombocytopenia 1	Decreased mean platelet volume, Joint hemorrhage, Congenital thrombocytopenia, Intermittent throm...	OMIM:313900
Acute Liver Failure	Hyperammonemia, Thrombocytopenia, Ataxia	ORPHA:90062
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Microphthalmia, Syndromic 3	Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, Hemivertebrae, Vertebral fusio...	OMIM:206900
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia	OMIM:273900
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypokalemia, Elevated serum 11-deoxycortisol, Decreased circulating renin level	OMIM:202010
Thrombocytopenia 10	Decreased mean platelet volume, Thrombocytopenia	OMIM:620484
Cushing Syndrome Due To Ectopic Acth Secretion	Increased circulating cortisol level, Lymphopenia, Dorsocervical fat pad, Leukocytosis, Vertebral...	ORPHA:99889
Leptospirosis	Conjunctival hyperemia, Hyperproteinemia, Thrombocytopenia	ORPHA:509
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Axenfeld-Rieger Syndrome, Type 1	Wide nasal bridge, Hypoplasia of the maxilla, Oligodontia, Thin upper lip vermilion, Hypodontia, ...	OMIM:180500
Pagod Syndrome	Abnormal clavicle morphology, Abnormality of the spleen, Congenital diaphragmatic hernia, Omphalo...	ORPHA:991
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia	ORPHA:391665
Holoprosencephaly 2	Bifid uvula, Median cleft palate, Malar flattening, Submucous cleft hard palate, Bilateral cleft ...	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 21.1 Data