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Gene: Dmp1 MGI:94910

Gene Summary

Name:

dentin matrix protein 1

Synonyms:

N/A

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
prolonged RR interval	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.24×10^-13
decreased bone mineral content	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	9.69×10^-20
abnormal kidney morphology	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
decreased blood urea nitrogen level	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.20×10^-06
increased lean body mass	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.25×10^-05
increased total body fat amount	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	2.96×10^-05
decreased circulating phosphate level	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	9.45×10^-07
decreased bone mineral density	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	5.01×10^-18
increased circulating alkaline phosphatase level	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
decreased grip strength	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	6.16×10^-19
decreased heart rate	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	7.84×10^-12
enlarged kidney	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
abnormal bone structure	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.37×10^-15
decreased body length	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	2.03×10^-26

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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	Section images	heterozygote	50% (1 of 2)
Bone marrow	Section images	heterozygote	100% (2 of 2)
Cecum	Section images	heterozygote	50% (1 of 2)
Cerebellum	Section images	heterozygote	100% (2 of 2)
Colon	Section images	heterozygote	50% (1 of 2)
Epididymis	Section images	heterozygote	50% (1 of 2)
Esophagus	Section images	heterozygote	100% (2 of 2)
Gonadal fat pad	Section images	heterozygote	100% (2 of 2)
Ileum	Section images	heterozygote	50% (1 of 2)
Kidney	Section images	heterozygote	100% (2 of 2)
Mesenteric adipose tissue	Section images	heterozygote	100% (2 of 2)
Midbrain	Section images	heterozygote	100% (2 of 2)
Olfactory lobe	Section images	heterozygote	50% (1 of 2)
Ovary	Section images	heterozygote	50% (1 of 2)
Oviduct	Section images	heterozygote	50% (1 of 2)
Pancreas	Section images	heterozygote	100% (2 of 2)
Penis	Section images	heterozygote	50% (1 of 2)
Quadriceps	Section images	heterozygote	50% (1 of 2)
Sciatic nerve	Section images	heterozygote	50% (1 of 2)
Skin	Section images	heterozygote	50% (1 of 2)
Spinal cord	Section images	heterozygote	100% (2 of 2)
Spleen	Section images	heterozygote	100% (2 of 2)
Stomach	Section images	heterozygote	100% (2 of 2)
Sublingual gland	Section images	heterozygote	50% (1 of 2)
Submandibular gland	Section images	heterozygote	100% (2 of 2)
Testis	Section images	heterozygote	50% (1 of 2)
Thymus	Section images	heterozygote	50% (1 of 2)
Tongue	Section images	heterozygote	100% (2 of 2)
Trachea	Section images	heterozygote	50% (1 of 2)
Trigeminal V nerve	Section images	heterozygote	100% (2 of 2)
Urinary bladder	Section images	heterozygote	50% (1 of 2)
Vagina	Section images	heterozygote	50% (1 of 2)
Vas deferens	Section images	heterozygote	50% (1 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Blood	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	Not available
Cerebral cortex	N/A	heterozygote	Not available
Chest bone	N/A	heterozygote	Not available
Diaphragm	N/A	heterozygote	0.0% (0 of 2)
Duodenum	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	Not available
Harderian gland	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	Not available
Hindlimb	N/A	heterozygote	Not available
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Jejunum	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	50% (1 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	Not available
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	Not available
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Mesenteric lymph node	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Parotid gland	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	Not available
Peyer's patch	N/A	heterozygote	Not available
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	Not available
Skeletal muscle	N/A	heterozygote	Not available
Small intestine	N/A	heterozygote	50% (1 of 2)
Stomach pyloric region	N/A	heterozygote	Not available
Striatum	N/A	heterozygote	Not available
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	Not available
Vesicular gland	N/A	heterozygote	Not available
White adipose tissue	N/A	heterozygote	Not available

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%
blood
bone marrow
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cecum	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
chest bone
colon
diaphragm	0.0%
duodenum	0.0%
epididymis	Unavailable
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
gonadal fat pad	0.0%
harderian gland
heart	0.0%
hindlimb	0.0%
hippocampus	0.0%
hypothalamus	0.0%
ileum	0.0%
jejunum
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%
mesenteric adipose tissue	0.0%
mesenteric lymph node
midbrain	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
parotid gland	0.0%
penis	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
quadriceps	0.0%
sciatic nerve	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
stomach pyloric region	0.0%
striatum	0.0%
sublingual gland	0.0%
submandibular gland	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
tongue	0.0%
trachea	0.0%
trigeminal v nerve	0.0%
urinary bladder
uterus	0.0%
vagina	0.0%
vas deferens	Unavailable
vascular system	0.0%
vesicular gland	Unavailable
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.

Adult LacZ

LacZ Images Section

88 Images

View images

Histopathology

Images

2 Images

View images

Human diseases caused by Dmp1 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 Dmp1 (2 diseases)
Human diseases predicted to be associated with Dmp1 (1571 diseases)

The table below shows human diseases associated to Dmp1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Hypophosphatemic Rickets, Autosomal Recessive, 1		Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Autosomal Recessive Hypophosphatemic Rickets		Abnormality of renal excretion, Coxa vara, Enthesitis, Tibial bowing, Hypocalcemic tetany, Hypoph...	ORPHA:289176

The table below shows human diseases predicted to be associated to Dmp1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition	OMIM:125440
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Osteoporosis, Cone-shaped epiphysis, Short philtrum, Dentinogenesis im...	ORPHA:71267
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr...	ORPHA:166277
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Abnormal pelvic girdle ...	OMIM:610967
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Anonychia-Microcephaly Syndrome	Carious teeth, Clinodactyly of the 5th finger, Abnormality of the dentition	ORPHA:1094
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ...	OMIM:619795
Trichodentoosseous Syndrome	Microdontia, Increased bone mineral density, Taurodontia, Widely spaced teeth	OMIM:190320
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Osteogenesis Imperfecta, Type Xix	Osteopenia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Bowing of the a...	OMIM:301014
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Microgna...	OMIM:613849
Dentin Dysplasia	Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Rhizomelic Chondrodysplasia Punctata, Type 3	Epiphyseal stippling, Short femur, Rhizomelia, Short humerus	OMIM:600121
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Bowing of the legs, Flared metaphysis, Elevated circulating alkaline phosphatase conc...	OMIM:619073
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo...	ORPHA:1802
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating osteocalcin level, Hyperphosphaturia, Elevated alkaline phosphatase of bone...	ORPHA:157215
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Multiple prenatal fractures, Dentinogenesis imperfecta, Decreased calvarial ...	OMIM:259440
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia	OMIM:226650
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Hypophosphatemic Rickets, X-Linked Recessive	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino...	OMIM:300554
Hall-Riggs Syndrome	Metaphyseal dysplasia, Thick lower lip vermilion, Osteoporosis, Microdontia of primary teeth, Hyp...	OMIM:234250
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma...	ORPHA:477781
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Metaphyseal dysplasia, Persistence of primary t...	OMIM:265900
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tib...	OMIM:241530
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Microretrognathia, Hip contracture, Inguinal hernia, Micrognathia, Carious...	OMIM:618363
Odontochondrodysplasia 1	Delayed eruption of teeth, Recurrent respiratory infections, Short metacarpal, Brachydactyly, Met...	OMIM:184260
Odontochondrodysplasia	Delayed eruption of teeth, Bowing of the long bones, Coxa valga, Cone-shaped epiphysis, Joint hyp...	ORPHA:166272
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc...	OMIM:307800
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Generalized hypoplasia of dental enamel, Carious teeth, Flexion contracture, Hip dislocation, Cut...	OMIM:203550
Dent Disease 1	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino...	OMIM:300009
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum...	OMIM:600785
Hypophosphatemic Rickets, Autosomal Dominant	Osteomalacia, Rickets, Renal phosphate wasting, Elevated circulating alkaline phosphatase concent...	OMIM:193100
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Enlargemen...	OMIM:600081
Craniosynostosis 3	Hallux valgus, Sagittal craniosynostosis, Dental malocclusion, Left unicoronal synostosis, Right ...	OMIM:615314
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Short metacarpal, Short metatarsal, Osteoporosis, Enamel hypoplasia, B...	OMIM:612463
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Dental Ankylosis	Mandibular prognathia, Tooth agenesis, Clinodactyly of the 5th finger, Abnormal dental enamel mor...	ORPHA:1077
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Amelogenesis imperfecta	ORPHA:79129
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti...	ORPHA:2501
Pfeiffer-Palm-Teller Syndrome	Enamel hypoplasia, Joint stiffness	ORPHA:2871
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap...	OMIM:619598
Shaheen Syndrome	Carious teeth, Enamel hypoplasia	OMIM:615328
Hypocalcemic Vitamin D-Dependent Rickets	Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Femoral bowing, Tibial bowi...	ORPHA:289157
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal ...	OMIM:144750
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Hip osteoarthritis, Joint hyperflexibility, Hip dysplasia, Short middl...	ORPHA:63442
Amelogenesis Imperfecta, Type Ik	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:620104
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Elevated circ...	OMIM:264700
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone...	ORPHA:1879
Microcephalic Primordial Dwarfism, Toriello Type	Recurrent respiratory infections, Downturned corners of mouth, Abnormal epiphysis morphology, Ena...	ORPHA:2643
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Osteomalacia, Bowing of the legs, Rickets, Iron deficiency anemia, Elevated ci...	ORPHA:89937
Hypocalcemic Vitamin D-Resistant Rickets	Joint dislocation, Hyperparathyroidism, Recurrent fractures, Osteomalacia, Bone cyst, Genu varum,...	ORPHA:93160
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Trichodental Dysplasia	Odontodysplasia, Hypodontia, Conical tooth	OMIM:601453
48,Xyyy Syndrome	Thick lower lip vermilion, Recurrent upper respiratory tract infections, Irregularly spaced teeth...	ORPHA:99329
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ...	OMIM:259420
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Enamel hypoplasia, Atrophic scars, Oral mucosal blisters	ORPHA:79402
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta	OMIM:613211
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Dent Disease	Enlarged epiphyses, Elevated circulating creatine kinase concentration, Bowing of the legs, Delay...	ORPHA:1652
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Increased bone mineral density, Periapical tooth abscess, Enamel hypominerali...	ORPHA:3352
Fanconi Renotubular Syndrome 2	Osteopenia, Renal insufficiency, Proteinuria, Recurrent fractures, Osteomalacia, Rickets, Hyperca...	OMIM:613388
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Enamel hypoplasia, Retrognathia, High palate	OMIM:617915
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Carious teeth, Recurrent respiratory infections, Enamel hypoplasia, Thick vermilion border	ORPHA:363523
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Osteoma...	OMIM:134600
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t...	ORPHA:3416
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Abnormal dental enamel morphology, Craniosynostosis, Abnormalit...	ORPHA:1515
Eiken Syndrome	Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morphology, Epiph...	ORPHA:79106
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Syndactyly, Enamel hypoplasia, Atrophic scars	OMIM:226700
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone...	ORPHA:89936
Amelogenesis Imperfecta, Type Iiib	Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617607
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Enamel hypoplasia, Syndactyly	OMIM:613576
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Kohlschutter-Tonz Syndrome	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:226750
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ...	ORPHA:2972
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
17Q11.2 Microduplication Syndrome	Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology	ORPHA:139474
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Short Stature, Dauber-Argente Type	Delayed eruption of teeth, Long toe, Osteopenia, Arachnodactyly, Decreased fibular diameter, Long...	OMIM:619489
Trichothiodystrophy 9, Nonphotosensitive	Joint laxity, High, narrow palate, Dental malocclusion, Brachydactyly	OMIM:619692
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co...	ORPHA:53697
Mulibrey Nanism	Dental crowding, Absent frontal sinuses, Thickened cortex of long bones, Hypoplastic frontal sinu...	OMIM:253250
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Lowry-Maclean Syndrome	Delayed eruption of teeth, Craniosynostosis, Cleft palate	OMIM:600252
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Protrusio acetabuli, Recurrent fractures, Coxa vara, Increased suscepti...	OMIM:610968
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition	ORPHA:2222
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp...	OMIM:614856
Vitamin D-Dependent Rickets, Type 2A	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Elevated circ...	OMIM:277440
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Hypophosphatemic Bone Disease	Hypophosphatemia, Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Osteomalacia, Distal renal tubular acidosis, Elevated circulating...	OMIM:179800
Maxillonasal Dysplasia, Binder Type	Dental malocclusion, Short distal phalanx of finger	OMIM:155050
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Mandibular prognathia, Tapered finger, Long fingers, Dental malocclusion, High palate	OMIM:618292
Cole-Carpenter Syndrome 1	Osteopenia, Recurrent fractures, Micrognathia, Reduced bone mineral density, Microdontia, Coronal...	OMIM:112240
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Junctional Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids, Enamel hypoplasia	ORPHA:79405
Intermediate Osteopetrosis	Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o...	ORPHA:210110
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Brachydactyly, Abnormality of the dentition, Dental malocclusion, Hip dysp...	ORPHA:1858
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Hypophosphatasia, Adult	Arthropathy, Recurrent fractures, Osteomalacia, Rickets, Low alkaline phosphatase, Increased susc...	OMIM:146300
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Immunodeficiency 33	Delayed eruption of teeth, Pneumocystis jirovecii pneumonia, Conical tooth, Recurrent bacterial i...	OMIM:300636
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Joint hypermobility, Diastema, Agenesis of molar, Supernumerary tooth, Osteoporosis, ...	OMIM:619718
Epidermolysis Bullosa, Junctional 4, Intermediate	Carious teeth, Scarring alopecia of scalp, Dental enamel pits	OMIM:619787
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Osteopenia, Short metacarpal, Joint laxity, Camptodactyly of finger, T...	OMIM:612350
Cole-Carpenter Syndrome 2	Microretrognathia, Osteopenia, Recurrent fractures, High palate, Lambdoidal craniosynostosis, Cor...	OMIM:616294
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Osteoporosis, Diaphyseal dysplasia, Ma...	OMIM:614727
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Increased susceptibility to fractures, Reduced bone mineral density, Bowing ...	OMIM:166220
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Recurrent fractures, Dentinogenesis imperfecta, Hip dislocation, Ost...	OMIM:616507
Late-Onset Junctional Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids, Enamel hypoplasia	ORPHA:79406
Familial Isolated Hyperparathyroidism	Osteopenia, Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, H...	ORPHA:99879
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia, Increased connective tissue	OMIM:226670
Trichorhinophalangeal Syndrome, Type Iii	Short palm, Thin upper lip vermilion, Short metacarpal, Osteopenia, Dental crowding, Avascular ne...	OMIM:190351
Alpha-Mannosidosis	Mandibular prognathia, Craniofacial hyperostosis, Bowing of the long bones, Inguinal hernia, Recu...	ORPHA:61
Muenke Syndrome	Broad hallux, Capitate-hamate fusion, Dental malocclusion, Cone-shaped epiphyses of the phalanges...	OMIM:602849
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-4 finger syndactyly, Conical tooth, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous...	OMIM:613573
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition	ORPHA:2026
Ramon Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Osteolysis, ...	ORPHA:3019
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Limb joint contracture, Scarring alopecia of sca...	ORPHA:251393
Brittle Cornea Syndrome 1	Joint laxity, Congenital hip dislocation, Dentinogenesis imperfecta, Atypical scarring of skin	OMIM:229200
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Inguinal hernia, Recurrent fractures, ...	OMIM:610915
Autosomal Recessive Hypophosphatemic Rickets	Abnormality of renal excretion, Coxa vara, Enthesitis, Tibial bowing, Hypocalcemic tetany, Hypoph...	ORPHA:289176
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Stimmler Syndrome	Microdontia, Abnormal dental enamel morphology	ORPHA:3199
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures, Hip dyspl...	OMIM:166200
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Patchy reduct...	ORPHA:249
Weismann-Netter Syndrome	Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Delayed erup...	OMIM:112350
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Short metacarpal, Short toe, Short metatarsal, Osteoporosis, Subcutane...	OMIM:103580
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Short toe, Cone-shaped epiphyses of the phalanges of the hand, Delayed eruption of pe...	OMIM:619269
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty...	ORPHA:3152
Galloway-Mowat Syndrome 8	Enamel hypoplasia	OMIM:618349
Auriculocondylar Syndrome 2A	Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den...	OMIM:614669
Cenani-Lenz Syndactyly Syndrome	Premature loss of permanent teeth, Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia...	OMIM:212780
Self-Improving Dystrophic Epidermolysis Bullosa	Carious teeth, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79411
Bile Acid Conjugation Defect 1	Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Jau...	OMIM:619232
Renal Tubular Acidosis Iii	Osteomalacia, Rickets, Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis, Nephrocalcino...	OMIM:267200
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes...	ORPHA:2325
Caffey Disease	Joint hypermobility, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bowi...	OMIM:114000
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Mandibular prognathia, Arthrogryposis multiplex congenita, High palate, Dental malocclusion	OMIM:608931
Heimler Syndrome 1	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:234580
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul...	OMIM:607078
Intellectual Developmental Disorder, Autosomal Recessive 39	Hallux valgus, Dental malocclusion	OMIM:615541
Sjogren-Larsson Syndrome	Enamel hypoplasia, Flexion contracture	OMIM:270200
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Jaundice, Hypocalcemia, Reduced bone mineral density	ORPHA:172
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Hypoplasia of the...	ORPHA:3145
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat...	ORPHA:2025
Fanconi-Bickel Syndrome	Elevated gamma-glutamyltransferase level, Ketonuria, Hypouricemia, Osteomalacia, Elevated circula...	OMIM:227810
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Recurrent sinopulmonary infections, Recurrent fractures, Craniosynostosis, Persistenc...	OMIM:147060
Cleidocranial Dysplasia 2	Osteopenia, Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary teeth, Hypopla...	OMIM:620099
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Axial Osteomalacia	Increased bone mineral density, Renal cyst, Osteomalacia, Elevated circulating creatine kinase co...	OMIM:109130
Pseudopseudohypoparathyroidism	Short distal phalanx of the 3rd finger, Abnormality of the endocrine system, Short metatarsal, Hy...	ORPHA:79445
Qazi-Markouizos Syndrome	Tapered finger, High, narrow palate, Hypoplasia of teeth, Recurrent infections, Delayed ossificat...	ORPHA:3010
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Fanconi-Bickel Syndrome	Osteopenia, Bowing of the long bones, Hypertriglyceridemia, Diabetes mellitus, Elevated circulati...	ORPHA:2088
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Short distal phalanx of toe, Brachydactyly, Dental malocclusi...	OMIM:601957
Specific Granule Deficiency 2	Osteopenia, Brachydactyly, Sandal gap, Conical tooth, Recurrent pneumonia, Sepsis, Recurrent bact...	OMIM:617475
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Malar flattening, Dental malocclusion, Widely spaced teeth	OMIM:616108
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate	OMIM:217150
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de...	ORPHA:970
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Short metacarpal, Short metatarsal, Osteoporosis, Enamel hypoplasia, B...	OMIM:612462
Seckel Syndrome 5	Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, High palate, Hypodontia, Short...	OMIM:613823
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Hypercalcemia, Rickets, Parathyroid hyperplasia, Renal phosphate wasting, El...	OMIM:612089
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Joint stiffness, Metaphyseal widening, Dental malocclusion, Coxa vara, Tibial b...	OMIM:608940
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
Taurodontism	Taurodontia	OMIM:272700
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow pa...	OMIM:613684
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo...	ORPHA:2790
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Inguinal hernia, Micrognathia, G...	OMIM:613848
Catifa Syndrome	Delayed eruption of teeth, Inguinal hernia, Cleft lip, Cleft palate, Increased overbite, Long phi...	OMIM:618761
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Carious teeth, Conical incisor, Enamel hypoplasia, Onychomycosis	OMIM:614564
Hypophosphatemic Rickets, Autosomal Recessive, 2	Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Hypophosphatemic rickets, Genu varum	OMIM:613312
Tooth Agenesis, Selective, 3	Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia	OMIM:604625
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Micrognathia, Deep philtrum, Osteoarthritis, Short metatarsal, Cone-shaped epiphyses ...	OMIM:190350
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat...	OMIM:147891
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hyperphosphaturia, Diabetes mellitus, Hypouricemia, Proteinuria, R...	OMIM:616026
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Hypoparathyroidism, Hyperphosphaturia, Hyp...	OMIM:156400
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Delayed cranial suture closure, Small hand, T...	ORPHA:93324
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Flexion contr...	ORPHA:88630
Osteosclerotic Metaphyseal Dysplasia	Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Elevated circulat...	OMIM:615198
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Osteomalacia, Parathormone-independent increased renal tubula...	OMIM:600740
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Achilles tendon contracture, Dental maloccl...	OMIM:619719
Cystinosis	Renal insufficiency, Proteinuria, Portal hypertension, Nephrogenic diabetes insipidus, Rickets, R...	ORPHA:213
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Hypodontia	OMIM:616029
Brachydactyly, Type E2	Delayed eruption of teeth, Short metacarpal, Short metatarsal, Oligodontia, Brachydactyly	OMIM:613382
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Nephrocalcinosis, De...	OMIM:611590
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Auriculocondylar Syndrome 1	Dental crowding, Micrognathia, Ankylosis, Dental malocclusion, Cleft palate, Mandibular condyle h...	OMIM:602483
Oculoskeletodental Syndrome	Metaphyseal dysplasia, Abnormality of the dentition, Clinodactyly, Oligodontia, Short 5th finger,...	ORPHA:557003
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp...	ORPHA:1452
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the dentition, Supernumerary tooth, Oligodontia, Short 5th metacarpal, Brachydactyly	ORPHA:1264
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Joint hypermobility, Joint stiffness, Tracheobronchomalacia, Pierre-Robin sequen...	OMIM:619184
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperostosis, Pulp calcification, Taurodontia, Subperiosteal bone formation, Enamel hypoplasia	OMIM:211900
Mccune-Albright Syndrome	Abnormal femur morphology, Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious pubert...	ORPHA:562
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Anonychia With Flexural Pigmentation	Carious teeth	ORPHA:69125
48,Xxyy Syndrome	Broad jaw, Delayed eruption of teeth, Inguinal hernia, Recurrent respiratory infections, Abnormal...	ORPHA:10
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis	OMIM:602722
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Abnormal de...	ORPHA:1782
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Broad hallux, Sandal gap, Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp...	OMIM:618727
Braddock-Carey Syndrome 1	Clinodactyly, Pierre-Robin sequence, Small hand, Cleft palate, Everted lower lip vermilion, Thick...	OMIM:619980
Epiphyseal Chondrodysplasia, Miura Type	Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino...	OMIM:615923
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Bowing of the legs, Elevated circulating creatinine concentration, Rickets, Am...	OMIM:615605
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Metaphyseal dysplasia, Flared metaphysis, Delayed eruption of permanent te...	OMIM:218400
Pycnodysostosis	Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Hi...	ORPHA:763
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Increased susceptibility to fractur...	OMIM:612287
Cranioectodermal Dysplasia 4	Joint hypermobility, Sagittal craniosynostosis, Recurrent pneumonia, Hip dysplasia, Thin vermilio...	OMIM:614378
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Mcdonough Syndrome	Mandibular prognathia, Micrognathia, Open bite, Dental malocclusion, Short philtrum, Abnormal pal...	ORPHA:2471
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth	ORPHA:248
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Larsen-Like Syndrome	Joint laxity, Wide anterior fontanel, Dental malocclusion, Cleft palate, Recurrent otitis media, ...	OMIM:608545
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Blepharophimosis-Impaired Intellectual Development Syndrome	Joint laxity, Thin upper lip vermilion, Recurrent urinary tract infections, Exaggerated cupid's b...	OMIM:619293
Tyrosinemia Type 1	Acute hepatic failure, Splenomegaly, Generalized aminoaciduria, Rickets of the lower limbs	ORPHA:882
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Osteopenia, Broad long bones, Dental crowding, Coxa valga, Ca...	OMIM:269300
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Joint dislocation, Osteomyelitis, Recurrent fractures, Mandibular ...	ORPHA:53
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Hypercalciuria, Increased susceptib...	OMIM:612286
Seckel Syndrome 1	Ivory epiphyses, Dental crowding, Selective tooth agenesis, Abnormal finger flexion crease, Micro...	OMIM:210600
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Joint...	ORPHA:137834
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, Reduced bone m...	ORPHA:3079
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Snijders Blok-Campeau Syndrome	Joint laxity, Inguinal hernia, Taurodontia, High palate, Widely spaced teeth, Umbilical hernia, E...	OMIM:618205
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormal dental morphology, Interphalangeal joint contracture of finger, Swelling of proximal int...	ORPHA:69087
Kenny-Caffey Syndrome, Type 1	Carious teeth, Small hand, Short foot, Slender long bone, Recurrent bacterial infections, Short p...	OMIM:244460
Linear Verrucous Nevus Syndrome	Short metacarpal, Toe syndactyly, Genu recurvatum, Abnormality of the kidney, Reduced bone minera...	ORPHA:2611
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia	OMIM:612843
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79303
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology,...	ORPHA:1133
Hypophosphatasia, Childhood	Carious teeth, Craniosynostosis, Premature loss of primary teeth, Bowing of the legs	OMIM:241510
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Ectopi...	ORPHA:2919
Flynn-Aird Syndrome	Increased bone mineral density, Joint stiffness, Carious teeth, Osteoporosis, Increased bone dens...	OMIM:136300
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Micrognathia, Diastema, Dental malocclusion, Malar flattening, Brachydactyly	ORPHA:436245
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly	ORPHA:2266
Pycnodysostosis	Increased bone mineral density, Delayed eruption of primary teeth, Persistence of primary teeth, ...	OMIM:265800
Scarf Syndrome	Inguinal hernia, Craniosynostosis, Joint hyperflexibility, Short sternum, Long philtrum, Umbilica...	ORPHA:3134
Osteoglosphonic Dysplasia	Inguinal hernia, Craniosynostosis, Micrognathia, Tooth agenesis, Multiple unerupted teeth, Abnorm...	ORPHA:2645
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Femoral bowing, Abnorm...	ORPHA:2563
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Hypodontia, Shagreen patch	ORPHA:1816
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Refractory Celiac Disease	Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Elevated alkaline phosphatas...	ORPHA:398063
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaph...	OMIM:122860
Oncogenic Osteomalacia	Hyperphosphaturia, Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysp...	ORPHA:352540
Hamamy Syndrome	Osteopenia, Micrognathia, High palate, Clinodactyly of the 5th finger, Long toe, Syndactyly, Tape...	OMIM:611174
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia	OMIM:183300
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Short philtrum, ...	OMIM:600002
Osteogenesis Imperfecta, Type Vii	Osteopenia, Crumpled long bones, Protrusio acetabuli, Femoral retroversion, Bowing of the legs, M...	OMIM:610682
Pili Torti	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:2889
Familial Expansile Osteolysis	Bowing of the long bones, Osteolysis, Elevated circulating alkaline phosphatase concentration, Hy...	OMIM:174810
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Hallux valgus, Brachydactyly, Toe syndactyly, Camptodactyly of finger, Ope...	ORPHA:1327
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Carious teeth, Radioulnar synostosis, Abnormal palate morphology, Abnormality of the dentition	ORPHA:3270
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Femur fracture, Pancytopenia, Craniosynostosis, In...	OMIM:259700
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Exaggerated cupid's bow, Rocker bottom foot, Wide mouth, Delayed eruption of permanent teeth, Thi...	OMIM:618506
Neuronal Intestinal Pseudoobstruction	Natal tooth, Congenital diaphragmatic hernia, Recurrent infections	ORPHA:99811
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Short thumb, Partial duplication of thumb phalanx, Widely spaced teeth, Enamel hyp...	OMIM:620193
Cranio-Osteoarthropathy	Abnormality of the knee, Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Clubbing of ...	ORPHA:1525
Cockayne Syndrome Type 2	Mandibular prognathia, Scarring, Delayed eruption of primary teeth, Flexion contracture, Widely s...	ORPHA:90322
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Oral mucosal blisters, Carious teeth, Atypical scarring of skin, Atrophic scars, Keloids, Enamel ...	ORPHA:79410
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Abnormality of the u...	ORPHA:2204
Bent Bone Dysplasia Syndrome 1	Natal tooth, Bent long bone, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Decreased...	OMIM:614592
Trichorhinophalangeal Syndrome Type 2	Thin upper lip vermilion, Recurrent urinary tract infections, Abnormality of the dentition, Avasc...	ORPHA:502
Recessive Dystrophic Epidermolysis Bullosa Inversa	Carious teeth, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79409
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Syndactyly, Wide anterior fontanel, Cleft pa...	OMIM:619736
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Postaxial hand polydactyly, Small hand, Abnormal ora...	ORPHA:952
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Omphalocele, Recu...	ORPHA:2484
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Hypercholanemia, Familial 1	Rickets, Increased serum bile acid concentration	OMIM:607748
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, To...	ORPHA:2863
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Aplasia/Hypoplasia of the distal phalanges of...	OMIM:113000
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Thin upper lip vermilion, Recurrent respiratory infections, Micrognathia, Deep philtr...	ORPHA:329178
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Microdontia,...	ORPHA:181
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal femoral metaphyseal irregularity, C...	OMIM:609324
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Osteomalacia, Joint stiffness, Coxa valga, Avascular necrosis of t...	ORPHA:1901
Myopathy, Myofibrillar, 8	Micrognathia, Distal joint laxity, Achilles tendon contracture, Dental malocclusion, High palate,...	OMIM:617258
Cleidocranial Dysplasia 1	Micrognathia, Absent frontal sinuses, High, narrow palate, Short middle phalanx of the 2nd finger...	OMIM:119600
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Genu valgum, Glycosuria, Aminoaciduria, Hypophosphat...	OMIM:618913
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Joint stiffness, Downturned corners...	ORPHA:2107
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta	OMIM:615905
Jalili Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta	ORPHA:1873
Trisomy 4P	Smooth philtrum, Camptodactyly of finger, Abnormality of the dentition, Carious teeth, Preaxial h...	ORPHA:1738
Pseudohypoaldosteronism Type 2	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:757
Naegeli-Franceschetti-Jadassohn Syndrome	Carious teeth, Premature loss of teeth	OMIM:161000
Vascular Malformation, Primary Intraosseous	Umbilical hernia, Ectopic tooth eruption, Gingival bleeding	OMIM:606893
Nance-Horan Syndrome	Mandibular prognathia, Supernumerary tooth, Short metacarpal, Abnormality of the dentition	ORPHA:627
Epiphyseal Dysplasia, Multiple, 1	Pes planus, Short metacarpal, Epiphyseal dysplasia, Joint stiffness, Avascular necrosis of the ca...	OMIM:132400
Mucopolysaccharidosis Type 4	Bowing of the long bones, Abnormal dental enamel morphology, Abnormality of the dentition, Cariou...	ORPHA:582
Pili Torti, Early-Onset	Enamel hypoplasia	OMIM:261900
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Arthrogryposis multiplex congenita, Enamel hypoplasia, Atrophic scars, Oral mucosal blisters	OMIM:226730
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly,...	OMIM:607765
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Thin upper lip vermilion, Dental crowding, Sandal gap, Short toe, Pierre-Robin sequen...	OMIM:617877
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Osteomyelitis, Recurrent fractures, Persistence of primary teeth, Carious ...	OMIM:259710
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Splen...	OMIM:211600
Heimler Syndrome 2	Dental crowding, Amelogenesis imperfecta	OMIM:616617
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Macroglossia, Congenital hip dislocation, Omphalocele	OMIM:614450
Amelocerebrohypohidrotic Syndrome	Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b...	ORPHA:1946
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Branchioskeletogenital Syndrome	Mandibular prognathia, Amelia involving the lower limbs, Unilateral cleft palate, Craniosynostosi...	ORPHA:1299
48,Xxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Recurrent respiratory infectio...	ORPHA:96263
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Parathormone-independent in...	ORPHA:405
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Malar flattening, Enamel h...	OMIM:618874
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, High iliac wing, Hypoplasia ...	ORPHA:50814
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormal hip bone morphology, Abnormal dental enamel morphology, ...	ORPHA:3236
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Usher Syndrome Type 1	Abnormal dental enamel morphology	ORPHA:231169
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac...	OMIM:277900
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ...	OMIM:601216
Three M Syndrome 2	Delayed eruption of teeth, Dental malocclusion, Prominent calcaneus, Slender long bone, Thick ver...	OMIM:612921
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Hypouricemia, Osteomalacia, Increased urinary potassium, Chroni...	ORPHA:3337
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Epiphyseal dysplasia, Generalized joint laxity, Genu varum, Patellar hypoplasia, Short femoral ne...	OMIM:609325
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Increased bone mineral density, Cortical subperiosteal resorption of h...	ORPHA:94089
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Hypercalcemia, Craniosynost...	OMIM:614732
Dysostosis, Stanescu Type	Bowing of the long bones, Increased bone mineral density, Abnormal dental enamel morphology, Abno...	ORPHA:1798
Osteopetrosis, Autosomal Recessive 6	Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero...	OMIM:611497
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip...	OMIM:226900
Laron Syndrome	Delayed eruption of teeth, Micrognathia, Short toe, Osteoarthritis, Tooth agenesis, Microdontia, ...	ORPHA:633
Acrootoocular Syndrome	Delayed eruption of teeth, Short metacarpal, Sandal gap, Abnormal finger flexion crease, Microgna...	ORPHA:2980
Temple-Baraitser Syndrome	Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Delayed phala...	ORPHA:420561
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo...	ORPHA:1458
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, T...	OMIM:619797
Craniosynostosis 2	Bicoronal synostosis, Cleft soft palate, Craniosynostosis, Supernumerary tooth, Triphalangeal thu...	OMIM:604757
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Micrognathia, Carious teeth, Velopharyngeal insufficiency, De...	OMIM:613680
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Flar...	ORPHA:93346
Eem Syndrome	Finger syndactyly, Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Widely sp...	ORPHA:1897
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Acrofacial Dysostosis, Catania Type	Carious teeth, Spina bifida occulta, Short palm	OMIM:101805
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Cleft soft palate, Gingival...	OMIM:616331
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Persistence of primary teeth, Supernumerary tooth, Recurrent upper respiratory tract infections, ...	OMIM:619752
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Hip contracture, Toe syndactyly, Elevated circulating creatine kinase concentration, ...	OMIM:616809
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Rocker bottom foot, Micrognathia, Carious teeth, Coxa valga, Flexion c...	OMIM:214150
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Oligodontia, Cranial hyperostosis, Hypodontia	OMIM:601345
Nance-Horan Syndrome	Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incis...	OMIM:302350
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Broad long bones, Dental crowding, Fifth finger distal phalanx clinoda...	OMIM:257850
Van Buchem Disease	Elevated circulating alkaline phosphatase concentration, Increased bone mineral density, Cranial ...	OMIM:239100
Rapp-Hodgkin Syndrome	Syndactyly, Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Velopharyngeal insufficien...	OMIM:129400
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala...	OMIM:157980
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Camptodactyly of finger, Abnormality of the dentition, Micrognathia, Avascular ...	ORPHA:77258
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Micrognathia, High, narrow palate, Supernumerary tooth, Small hand, Oligodonti...	ORPHA:1787
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Osteomalacia, Hypocitraturia, Rickets, Nephrolithiasis, Rena...	ORPHA:18
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Recurrent respiratory infections, Abnormal dent...	ORPHA:96264
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Dental crowding, Tapered finger, Wide mouth, High palate, Long philtrum	OMIM:618825
Potocki-Lupski Syndrome	Mandibular prognathia, Dental crowding, Micrognathia, Dental malocclusion, Wide mouth, High palat...	OMIM:610883
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Oral mucosal blisters, Flexion contracture, Corneal scarring, Atrophic scars, Narrow mouth, Ename...	OMIM:226600
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Sclerotic scapulae, Dental malocclusion, 2-3 finger syndactyly...	OMIM:269500
Sjögren-Larsson Syndrome	Abnormal dental enamel morphology, Joint stiffness	ORPHA:816
Oculodentodigital Dysplasia	Selective tooth agenesis, Cleft upper lip, Carious teeth, Clinodactyly, 4-5 finger syndactyly, Hi...	OMIM:164200
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Hyperparathyroidism, Renal insufficiency, Proteinuria, Hypercalcemia, Bone cyst, ...	ORPHA:2668
Hyperparathyroidism 4	Osteopenia, Hypercalcemia, Primary hyperparathyroidism, Nephrolithiasis, Parathyroid carcinoma	OMIM:617343
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in...	ORPHA:75508
Bone Marrow Failure Syndrome 3	Metaphyseal dysplasia, Congenital hip dislocation, Micrognathia, Oral ulcer, Reduced bone mineral...	OMIM:617052
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, High palate, Microdo...	ORPHA:536467
Raine Syndrome	Mandibular prognathia, Natal tooth, Bowing of the long bones, Increased bone mineral density, Mic...	OMIM:259775
Harrod Syndrome	Arachnodactyly, Dental malocclusion, Abnormal shoulder morphology, Joint hyperflexibility, Abnorm...	ORPHA:2115
Codas Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse...	OMIM:600373
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Increased bone mineral density, Autoimmune hypoparathyroidism, Hyperphos...	ORPHA:36913
Osteopetrosis, Autosomal Recessive 3	Osteopetrosis, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis	OMIM:259730
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Polyuria, Osteoporosis, Rickets, Proximal tubulopathy, Type I diabetes mellitus	OMIM:560000
Lessel-Kreienkamp Syndrome	Clinodactyly of the 5th finger, Thin upper lip vermilion, Open mouth, Dental malocclusion	OMIM:619149
Ohdo Syndrome	Joint laxity, Micrognathia, Hypoplasia of teeth, Thin vermilion border, Widely spaced teeth, Narr...	OMIM:249620
Dent Disease 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina...	OMIM:300555
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Hyperparathyroidism, Stage 3 chronic kidney disease, Cortical scl...	OMIM:620366
Odontomicronychial Dysplasia	Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit...	ORPHA:1811
Myopathy, Centronuclear, X-Linked	Arachnodactyly, Flexion contracture, Dental malocclusion, Slender toe, High palate	OMIM:310400
Paget Disease Of Bone 4	Elevated circulating alkaline phosphatase concentration, Osteolysis	OMIM:606263
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Oligodontia, High palat...	OMIM:224300
Immunodeficiency 10	Recurrent bacterial infections, Recurrent infections, Amelogenesis imperfecta	OMIM:612783
Scarf Syndrome	Inguinal hernia, Short sternum, Lambdoidal craniosynostosis, Long philtrum, Umbilical hernia, Cor...	OMIM:312830
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Micrognathia, Dental malocclusion, Camptodactyly, Malar flattening, Joint contracture of the hand	OMIM:608257
Fanconi Anemia, Complementation Group S	Macrodontia, Proximal placement of thumb, Dental malocclusion, Narrow palate, Clinodactyly, Thick...	OMIM:617883
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short distal phalanx of toe, Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Mic...	OMIM:619356
Cole-Carpenter Syndrome	Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ...	ORPHA:2050
Zimmermann-Laband Syndrome	Hallux valgus, Micrognathia, Supernumerary tooth, Gingival fibromatosis, Cleft palate, Anterior o...	ORPHA:3473
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Short metacarpal, Flexion contracture, Genu valgum, Irregular epiphyse...	ORPHA:263463
Congenital Disorder Of Glycosylation, Type Iil	Postaxial polydactyly, Recurrent infections, Hip dysplasia, Enamel hypoplasia, Retrognathia	OMIM:614576
Grant Syndrome	Joint dislocation, Bowing of the long bones, Abnormal rib morphology, Decreased skull ossificatio...	ORPHA:2097
Faciocardiomelic Syndrome	Osteopenia, Micrognathia, Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypopl...	OMIM:612731
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Abnor...	ORPHA:950
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Abnormal dental enamel morphology	ORPHA:2238
Coffin-Siris Syndrome 3	Joint laxity, Inguinal hernia, Central diaphragmatic hernia, Short distal phalanx of the 5th fing...	OMIM:614608
Osteosarcoma	Abnormal femoral metaphysis morphology, Increased circulating lactate dehydrogenase concentration...	ORPHA:668
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Joint stiffness, Halberd-s...	ORPHA:2635
Spondylometaphyseal Dysplasia, Pagnamenta Type	Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Shor...	OMIM:619638
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Orofaciodigital Syndrome Iii	Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Postaxial foot polydactyly, Shor...	OMIM:258850
Infantile Systemic Hyalinosis	Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor...	ORPHA:2176
Cardiospondylocarpofacial Syndrome	Brachydactyly, High, narrow palate, Short palm, Failure of eruption of permanent teeth, Tooth mal...	ORPHA:3238
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Limit...	ORPHA:85435
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Seckel Syndrome	Sandal gap, Abnormal dental enamel morphology, Craniosynostosis, Micrognathia, Cone-shaped epiphy...	ORPHA:808
Nail-Patella Syndrome	Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hypoplasia, R...	ORPHA:2614
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Dental crowdi...	OMIM:608612
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition	OMIM:216300
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowing	OMIM:126550
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Down-sloping shoulders, Carious teeth, Joint hyperflexibility, Clinodactyly of the 5th finger, Ma...	ORPHA:1390
Char Syndrome	Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Persistence of primary te...	ORPHA:46627
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hypodontia, Scarring alopecia of scalp, Oligodontia, Abnormal dental enamel morphology	ORPHA:59303
Gracile Bone Dysplasia	Asplenia, Flared metaphysis, Micropenis, Thin ribs, Slender long bone, Hypocalcemia, Hypoplastic ...	OMIM:602361
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N...	ORPHA:137888
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Multiple impacted teeth, Short clavicles, Type E brachydactyl...	OMIM:113300
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Brachydactyly, Multiple joint contractures, Selective tooth agenesis, Lack of facial ...	ORPHA:2959
Caffey Disease	Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios...	ORPHA:1310
Celiac Disease, Susceptibility To, 1	Osteoporosis, Rickets, Recurrent aphthous stomatitis, Stomatitis, Enamel hypoplasia	OMIM:212750
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Hypoplastic ischia, Bowing of the legs, Micrognathia, Gingival overgrowt...	ORPHA:313855
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Elevated circulating alkaline phosphatase concentration, Increased spinal bone density, Recurrent...	ORPHA:329475
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Joint laxity, Inguinal hernia, Grayish enamel, Carious teeth, Epiphyseal d...	OMIM:253000
Brachycephaly, Trichomegaly, And Developmental Delay	Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde...	OMIM:617412
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Brachydactyly, Inguinal hernia, Sandal gap, Thick lower lip vermilion,...	OMIM:614607
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Recurrent urinary tract infections, Overlapping toe, Abnormality of the dentition, Carious teeth,...	ORPHA:363444
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Oliver Syndrome	Mandibular prognathia, Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Dental mal...	ORPHA:2920
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Increased bone mineral density, Micrognathia, High, narrow palate, Sub...	ORPHA:2780
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Femur fracture, Delayed eruption of primary teeth, Micrognat...	OMIM:619322
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, High palate, Malar flatteni...	ORPHA:2180
Van Maldergem Syndrome 1	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Joint laxit...	OMIM:601390
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Short metacarpal, Brachydactyly, Hypoplasia of ...	OMIM:101800
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Increased bone mineral densi...	ORPHA:79444
Aarskog-Scott Syndrome	Delayed eruption of teeth, Short palm, Finger syndactyly, Inguinal hernia, Camptodactyly of finge...	ORPHA:915
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Recurrent urinary tract infections, Sandal gap, Joint hypermobility, C...	OMIM:619229
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Patchy osteosclerosis, Decreased circulati...	OMIM:241410
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Dental crowding, Macroglossia, Camptodactyly, High palate, Thick vermi...	OMIM:616354
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Wrist swelling, Bicarbonaturia, Aminoaciduria...	OMIM:309000
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Dental crowding, Lipoatrophy, Increased subcutaneou...	ORPHA:2457
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:245660
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Microcephalic Primordial Dwarfism, Montreal Type	Lipoatrophy, Micrognathia, Open bite, Carious teeth, Reduced bone mineral density, Abnormal palat...	ORPHA:2617
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Joint laxity, Inguinal hernia, Grayish enamel, Carious teeth, Epiphyseal d...	OMIM:253010
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Syndactyly, Joint laxity, Inguina...	OMIM:151050
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Short Syndrome	Delayed eruption of teeth, Enlarged epiphyses, Joint laxity, Inguinal hernia, Lipodystrophy, Lipo...	OMIM:269880
Cystinosis, Nephropathic	Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hy...	OMIM:219800
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum	ORPHA:3214
Immunodeficiency 9	BCGitis, Recurrent infections, Recurrent aphthous stomatitis, Stomatitis, Amelogenesis imperfecta	OMIM:612782
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Dental crowding, Micrognathia, Generalized joint laxity, Tibial bowing, High palate, ...	ORPHA:251028
Immunodeficiency 51	Recurrent respiratory infections, Chronic mucocutaneous candidiasis, Recurrent cutaneous fungal i...	OMIM:613953
Osteopenia And Sparse Hair	Osteopenia, Joint laxity	OMIM:259690
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ...	ORPHA:884
Temtamy Syndrome	Dental crowding, Micrognathia, Hip dislocation, Hypoplasia of teeth, Short 2nd toe, Long philtrum...	OMIM:218340
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormality of thyroid physiology, Rickets, Abnormal blood ion concentration, ...	ORPHA:411629
Cerebellofaciodental Syndrome	Tapered finger, Dental malocclusion, Shortening of all distal phalanges of the fingers, Genu valg...	OMIM:616202
Cherubism	Jaw swelling, Macular scar, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligod...	OMIM:118400
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Osteopenia, Recurrent respiratory infections, Osteomyelitis, Recurrent...	ORPHA:2314
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos...	OMIM:308990
Anti-Glomerular Basement Membrane Disease	Arthritis, Persistence of primary teeth	ORPHA:375
Brachyolmia Type 1, Hobaek Type	Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short...	OMIM:271530
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Joint laxity, Carious teeth, Wid...	OMIM:607812
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Dental crowding, Persistence of primary teeth, Micrognathia, Thick lower lip vermilion, Overjet, ...	OMIM:618342
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Delayed ossification of ...	OMIM:617974
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Crowded maxillary incisors, Abnor...	ORPHA:2063
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Down-sloping shoulders, Tapered finger, Carious teeth, Dental malocclusion, Cl...	OMIM:615560
Sanjad-Sakati Syndrome	Recurrent respiratory infections, Abnormal dental enamel morphology, Patchy osteosclerosis, Abnor...	ORPHA:2323
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Camptodactyly of finger, Taurodontia, Abnormal dental enamel morphology, Abnormality of the denti...	ORPHA:3220
Localized Scleroderma	Fasciitis, Abnormality of the dentition, Flexion contracture, Dental malocclusion, Abnormal facia...	ORPHA:90289
Usher Syndrome Type 2	Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology	ORPHA:231178
Combined Immunodeficiency Due To Crac Channel Dysfunction	Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bacterial infec...	ORPHA:169090
Jalili Syndrome	Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis	OMIM:217080
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Wide mouth, Enamel hypoplasia, Bifid uvula, Abnormality of the dentition	OMIM:615802
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Par...	OMIM:617994
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Epiphyseal dysplasia, Short metacarpal, Vertebral fusion, Bowed humerus, Tarsa...	OMIM:272460
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,...	OMIM:259600
Acrocraniofacial Dysostosis	Craniosynostosis, Micrognathia, Tapered finger, Coxa valga, Cleft palate, Ulnar deviation of fing...	ORPHA:949
Cranioectodermal Dysplasia 1	High, narrow palate, High palate, Widely spaced teeth, Microdontia, Anodontia, Joint laxity, Sagi...	OMIM:218330
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Micrognathia, Osteoporosis, Clinodactyly of the 5th finger, Clinodactyly	ORPHA:73272
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Ost...	ORPHA:198
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Enamel hypomineralization	ORPHA:494444
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Oculodentodigital Dysplasia	Mandibular prognathia, Micrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal ...	ORPHA:2710
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Dental crowding, Micrognathia, Flexion contracture, High palate, Premature loss of te...	OMIM:248370
Rothmund-Thomson Syndrome	Delayed eruption of teeth, Hypoplasia of the ulna, Osteopenia, Abnormal trabecular bone morpholog...	ORPHA:2909
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re...	OMIM:617610
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Thrombocytope...	OMIM:619743
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Short philtrum,...	ORPHA:439822
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Sagittal craniosynostosis, Micrognathia	OMIM:616901
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
Developmental And Epileptic Encephalopathy 41	Delayed eruption of teeth, Flexion contracture	OMIM:617105
Camurati-Engelmann Disease, Type 2	Osteopenia, Hip contracture, Knee flexion contracture, Hyperostosis, Elevated circulating alkalin...	OMIM:606631
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Micrognathia, Abnormality of the dentition, Thick lower lip vermilion, Dental malocclusion, Wide ...	ORPHA:85321
3M Syndrome	Delayed eruption of teeth, Hypoplasia of the ulna, Congenital hip dislocation, Abnormal dental en...	ORPHA:2616
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Delayed closure o...	OMIM:127000
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture	OMIM:615883
Van Maldergem Syndrome 2	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Joint laxit...	OMIM:615546
Autosomal Recessive Primary Microcephaly	Vesicoureteral reflux, Abnormal cortical bone morphology, Unilateral renal agenesis	ORPHA:2512
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Short thumb, Submucous cleft hard palate...	ORPHA:2712
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Bow...	OMIM:241500
Hypercalcemia, Infantile, 2	Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin...	OMIM:616963
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Toe syndactyly, Delayed eruption of primary te...	ORPHA:819
Kabuki Syndrome 2	Joint laxity, Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Hip dislocation, Cle...	OMIM:300867
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Femoral bowing, I...	OMIM:602080
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Gingival overgrow...	OMIM:614753
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Increased ur...	OMIM:239000
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Recurrent fractures, Rickets, Stage 5 chronic kidney disease, Renal Fanconi syndrome, Glycosuria	OMIM:268315
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Joint laxity, Micrognathia, Dental malocclusion, Localized hypoplasia of dental ename...	ORPHA:73223
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Scarring, Craniosynostosis, Oral mucosal blisters, Sepsis, Recurrent infections, Atrophic scars, ...	ORPHA:79396
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Thymic Neuroendocrine Tumor	Osteopenia, Calcium nephrolithiasis, Hypercalcemia, Chronic noninfectious lymphadenopathy, Pituit...	ORPHA:97289
Clark-Baraitser syndrome	Joint laxity, Exaggerated median tongue furrow, Tapered finger, Thick lower lip vermilion, Genu v...	OMIM:300602
Gorham-Stout Disease	Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Elevated alkaline phosphatase of bone...	ORPHA:73
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Limitation of joint mobility, Abnormal rib morphology, Abnormality of the el...	ORPHA:1486
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vertebral fusion, Vaginal hernia, Macrodontia, Abnormal dental enamel morp...	ORPHA:2916
W Syndrome	Hypoplasia of the ulna, Broad uvula, Radial bowing, Metatarsus adductus, Submucous cleft hard pal...	ORPHA:2804
4H Leukodystrophy	Delayed eruption of teeth, Hypodontia, Abnormality of the dentition	ORPHA:289494
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis...	OMIM:104570
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth	OMIM:272300
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Joint laxity, Thin upper lip vermilion, Dorsocervical fat pad, Down-sloping shoulders, Micrognath...	ORPHA:391408
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Oligodontia, Hypodontia, Enamel hypoplasia	OMIM:607626
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Micrognathia, Abnormal tibia morphology, Flexion contrac...	ORPHA:666
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Carious teeth, Osteopenia, Calvarial hyperostosis	OMIM:612714
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Supernumerary tooth, Tooth agenesis, Abnor...	ORPHA:3353
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Syndactyly, Sandal gap, Widely spaced toes, Clinodactyly of the 5th finger, Tapered ...	OMIM:609638
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav...	ORPHA:2769
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip	OMIM:616788
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Dental crowding, Lipoatrophy, Limited elbow movement, Micrognathia, Joint stif...	OMIM:614008
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Hig...	ORPHA:3258
Orofaciodigital Syndrome Type 2	Micrognathia, Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Ham...	ORPHA:2751
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Overlapping toe, Carious teeth, Thick lower lip vermilion, Narrow palate, Narrow mouth	ORPHA:457365
Pseudohypoparathyroidism Type 1A	Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Increased bone mineral densi...	ORPHA:79443
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Joint laxity, Inguinal hernia, Arachnodactyly, Craniosynostosis, Micrognathia, Hypopl...	OMIM:182212
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets, Stage 5 chronic kidney disease, Proteinuria	OMIM:219900
Hypercholanemia, Familial, 2	Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged n...	OMIM:619256
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatr...	ORPHA:534
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteopenia, Osteoporosis, Hypogonadotropic hypogonadism	OMIM:615269
Blepharo-Cheilo-Odontic Syndrome	Carious teeth, Finger syndactyly, Bilateral cleft lip and palate, Conical tooth	ORPHA:1997
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor, Brachydactyly, Adducted thumb	OMIM:620062
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Arthritis, Recurrent bact...	OMIM:300310
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Hallermann-Streiff Syndrome	Natal tooth, Recurrent respiratory infections, Selective tooth agenesis, Micrognathia, High, narr...	OMIM:234100
Cranioectodermal Dysplasia 3	Joint laxity, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, Sagittal crani...	OMIM:614099
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con...	OMIM:606895
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Recurrent respiratory infections, Toe syndactyly, Abnormal dental morphology, ...	ORPHA:3253
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Tapered finger, Narrow palate, Hypoplasia of teeth, Wide mouth, Short philtrum, Thi...	OMIM:620250
Xfe Progeroid Syndrome	Premature loss of teeth, Absence of subcutaneous fat, Enamel hypoplasia, Corneal scarring	OMIM:610965
Ck Syndrome	Abnormal cortical bone morphology, Abnormal digit morphology, Joint hypermobility	OMIM:300831
Calciphylaxis	Ectopic ossification, Hyperphosphatemia, Stage 5 chronic kidney disease, Secondary hyperparathyro...	ORPHA:280062
Cockayne Syndrome Type 1	Mandibular prognathia, Foot joint contracture, Scarring, Delayed eruption of primary teeth, Abnor...	ORPHA:90321
Corneodermatoosseous Syndrome	Abnormal dental enamel morphology, Carious teeth, Abnormal finger morphology, Gingivitis, Short p...	ORPHA:3194
Congenital Myopathy 17	Mandibular prognathia, Tented upper lip vermilion, Overlapping toe, Tapered finger, Dental malocc...	OMIM:618975
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid h...	OMIM:603233
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste...	OMIM:607634
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hyperphosphaturia, Hypercalcemia, Recurrent fractures, Polyuria, Splenomegaly, Primar...	OMIM:239200
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Recurrent respiratory infections, Enamel hypoplasia	OMIM:243150
Short Syndrome	Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Abnormality of the dentition, ...	ORPHA:3163
Spondyloepiphyseal Dysplasia Congenita	Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Abnormal foot m...	ORPHA:94068
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Hypocalcemia, Autosomal Dominant 1	Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Nephrocalcinosi...	OMIM:601198
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Cleft palate, Hypoplasia of teeth, Recurrent otitis media, Widely spaced teeth, Microdontia	ORPHA:2728
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Epiphyseal dysplasia, Hyponatremia, Congenital hip dislocation, Calcinosis, Splenomeg...	OMIM:617913
Idiopathic Hypercalciuria	Osteopenia, Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalat...	ORPHA:2197
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Conical tooth, Invasive fungal infection, Recurrent mycobacterial infections, Severe ...	ORPHA:98813
Intellectual Disability, Birk-Barel Type	Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow palate, Incisor ma...	ORPHA:166108
Frank-Ter Haar Syndrome	Osteopenia, Thin upper lip vermilion, Bowing of the long bones, Cortical irregularity, Micrognath...	OMIM:249420
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ...	OMIM:101200
Cri-Du-Chat Syndrome	Microretrognathia, Syndactyly, Short metacarpal, Inguinal hernia, Metatarsus adductus, Thick lowe...	OMIM:123450
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Enamel hypoplasia, Chronic mucocutaneous candidiasis, Chronic oral candidiasis	OMIM:240300
Flynn-Aird Syndrome	Carious teeth, Bone cyst, Joint stiffness	ORPHA:2047
Autosomal Dominant Severe Congenital Neutropenia	Osteopenia, Recurrent sinopulmonary infections, Recurrent ear infections, Recurrent viral infecti...	ORPHA:486
Filippi Syndrome	2-4 toe syndactyly, Cutaneous syndactyly, Finger clinodactyly, Thin vermilion border, Short philt...	OMIM:272440
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Carious teeth, Reduced subcutaneous adipose tissue, Limb joint contracture, Hypodontia	OMIM:612079
Teebi Hypertelorism Syndrome 1	Omphalocele, Thin upper lip vermilion, Natal tooth, Dental crowding, Sagittal craniosynostosis, M...	OMIM:145420
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Delayed closure of the anterior fontanelle, Wide anterior fontanel...	OMIM:614886
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi...	OMIM:225500
Kilquist Syndrome	Mandibular prognathia, Coxa valga, 2-3 toe syndactyly, Hypoplasia of teeth, Wide mouth	OMIM:619080
Epiphyseal Dysplasia, Baumann Type	Carpal bone aplasia, Pes planus, Epiphyseal dysplasia, Joint laxity, Hypoplasia of the femoral he...	OMIM:610797
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Developmental And Epileptic Encephalopathy 100	Recurrent respiratory infections, Tented upper lip vermilion, Micrognathia, Protruding tongue, Bi...	OMIM:619777
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Bowing of the legs, Hypoplastic ilia, Dental ma...	ORPHA:1855
Knobloch Syndrome 2	Recurrent respiratory infections, Enamel hypoplasia, Micrognathia	OMIM:618458
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Infantile Myofibromatosis	Hypercalcemia, Abnormality of the kidney, Bone cyst, Limitation of joint mobility, Osteolysis, Ab...	ORPHA:2591
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Hiatus hernia, Persistence of primary teeth, Recurrent upper respiratory tract i...	OMIM:619769
Oslam Syndrome	Carious teeth, Radioulnar synostosis, Clinodactyly of the 5th finger	ORPHA:2760
Trisomy 9P	Dental crowding, Non-midline cleft lip, Impacted tooth, Downturned corners of mouth, Clinodactyly...	ORPHA:236
Atkin-Flaitz Syndrome	Thick vermilion border, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnor...	ORPHA:1193
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li...	OMIM:311200
Chime Syndrome	Abnormal dental morphology, Aplastic clavicle, Abnormality of the dentition, Supernumerary tooth,...	ORPHA:3474
Temtamy Preaxial Brachydactyly Syndrome	Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, D...	OMIM:605282
Immunodeficiency, Common Variable, 4	Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis	OMIM:613494
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Hypopl...	ORPHA:33364
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Ankylosis, Abnormal...	ORPHA:659
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Hypercalcemia, Renal hamartoma, Primary hyperparathyroidism, Osteoporosis, N...	ORPHA:99880
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly of the 5th fin...	ORPHA:2636
Hypophosphatasia	Bowing of the long bones, Hypercalcemia, Recurrent fractures, Craniosynostosis, Abnormal rib morp...	ORPHA:436
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Increased urine succinate level, Congestive heart failure, Decreased plasma free ca...	OMIM:619048
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Tapered finger, Supernumerary tooth, Thin vermilion border, Thick vermilion border, Malar flatten...	ORPHA:86818
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Progressive cervical vertebral spine fusion, Ectopic ossification in tendon tissue...	OMIM:135100
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Aplastic clavicle, Micrognathia, T...	ORPHA:85199
Rhyns Syndrome	Osteopenia, Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnor...	ORPHA:140976
Proteus Syndrome	Splenomegaly, Mandibular hyperostosis, Calvarial hyperostosis, Facial hyperostosis, Thin bony cortex	OMIM:176920
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Recurrent lower respiratory tract infections, Ankle flexion contracture, Micrognathia	OMIM:617802
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ...	OMIM:201000
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Genetic Recurrent Myoglobinuria	Elevated hepatic transaminase, Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise...	ORPHA:99845
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Abnormal dental enamel morphology, Joint stiffness, Hip dislocation, Short mid...	ORPHA:1005
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Splenomegaly, Leukocy...	OMIM:259720
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ...	ORPHA:85184
Hallermann-Streiff Syndrome	Natal tooth, Recurrent fractures, Tracheomalacia, Micrognathia, Abnormality of the dentition, Hig...	ORPHA:2108
Juvenile Nephropathic Cystinosis	Abnormal long bone morphology, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular...	ORPHA:411634
Parathyroid Carcinoma	Renal insufficiency, Hypercalcemia, Renal hamartoma, Primary hyperparathyroidism, Osteoporosis, N...	ORPHA:143
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, ...	OMIM:265000
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Inguinal hernia, Micrognathia, Absent frontal sinuses, Dental malocclus...	OMIM:102500
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Congenital hip dislocation, Micrognathia, Short...	OMIM:268400
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Alopecia Antibody Deficiency	Recurrent respiratory infections, Abnormality of dental color	ORPHA:1006
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, High palate, Cli...	OMIM:300373
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Hypoplastic cervical ve...	ORPHA:56304
Chronic Mucocutaneous Candidiasis	Recurrent respiratory infections, Recurrent urinary tract infections, Abnormal dental enamel morp...	ORPHA:1334
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Advanced eruption of teeth, High palate	OMIM:262190
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Abnormal dental enamel morphology	ORPHA:257
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Natal tooth, Hip dislocation, Oligodontia, Hypodontia	OMIM:614381
Takenouchi-Kosaki Syndrome	Thin upper lip vermilion, Inguinal hernia, Overlapping toe, Proximal placement of thumb, Tapered ...	OMIM:616737
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Vertebral fusion, Inguinal hernia, Down-sloping shoulders, Metatarsus adductus, Trism...	OMIM:227330
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ...	OMIM:616201
Femoral-Facial Syndrome	Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor...	ORPHA:1988
Diabetes Insipidus, Neurohypophyseal	Osteopenia, Decreased circulating osteocalcin level, Central diabetes insipidus	OMIM:125700
Rothmund-Thomson Syndrome Type 2	Osteopenia, Patellar hypoplasia, High palate, Microdontia, Short phalanx of finger, Genu varum, S...	ORPHA:221016
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, High palate, Widely spaced teeth, Advanced eruption of teeth, Short me...	ORPHA:192
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Foot joint contracture, Micrognathia, Tapered finger, Dental malocclusion, Alveo...	ORPHA:444072
Rothmund-Thomson Syndrome Type 1	Delayed eruption of teeth, Osteopenia, Short metacarpal, Abnormal trabecular bone morphology, Abn...	ORPHA:221008
Schimke Immuno-Osseous Dysplasia	Wide capital femoral epiphyses, Abnormal femoral head morphology, Abnormal primary molar morpholo...	ORPHA:1830
Metaphyseal Chondrodysplasia, Schmid Type	Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met...	OMIM:156500
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t...	ORPHA:2658
Intellectual Developmental Disorder, Autosomal Dominant 21	Narrow mouth, Cleft palate, Recurrent infections, Thin vermilion border, Long philtrum, Incisor m...	OMIM:615502
Paget Disease Of Bone 3	Fractures of the long bones, Elevated circulating alkaline phosphatase concentration, Osteolysis,...	OMIM:167250
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Carious teeth, Joint contracture of the 5th finger, Arachnodactyly, Camptodactyly of finger	ORPHA:1883
Hypoparathyroidism, Familial Isolated, 2	Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemia, Hypocalcemic se...	OMIM:618883
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o...	OMIM:204690
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Limitation of joint...	ORPHA:2619
Recon Progeroid Syndrome	Joint laxity, Prominence of the premaxilla, Dental crowding, Arachnodactyly, Proximal placement o...	OMIM:620370
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Hypogonadism, Arthrogryposi...	ORPHA:2671
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip contracture, Abnormality of the knee, Broad radial metaphysis, Protrusio acetabuli, Broad fem...	ORPHA:99642
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Recurrent respiratory infections, Protruding tongue, Persiste...	OMIM:610253
Junctional Epidermolysis Bullosa With Pyloric Atresia	Enamel hypoplasia, Oral mucosal blisters	ORPHA:79403
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Scarring alopecia of scalp, Short philtrum, Cleft palate	OMIM:617337
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Aplasia of the distal...	ORPHA:364577
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus...	OMIM:166260
Osteoglophonic Dysplasia	Mandibular prognathia, Osteopenia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,...	OMIM:166250
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Micrognathia, F...	OMIM:617952
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Increased bone mineral density, Aplastic...	ORPHA:50945
Lowry-Maclean Syndrome	Osteopenia, Inguinal hernia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the m...	ORPHA:2409
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short metatars...	OMIM:617102
Crisponi/Cold-Induced Sweating Syndrome 1	Short palm, Micrognathia, Carious teeth, Trismus, Tapered finger, Adducted thumb, Elbow flexion c...	OMIM:272430
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypospadias, Dilated cardiomyopathy, Flexion contracture, Micropenis, Bradycardia, Hypertrophic c...	OMIM:618815
Hypoparathyroidism, Familial Isolated, 1	Hypoparathyroidism, Decreased circulating parathyroid hormone level, Nephrocalcinosis, Hyperphosp...	OMIM:146200
Distal Duplication 18Q	Abnormal dental morphology, Arachnodactyly, Camptodactyly of finger, Micrognathia, Carious teeth,...	ORPHA:1716
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Increased skull ossification, Craniofacial osteosclerosis, Metaphyseal widening, Diaphyseal scler...	OMIM:618476
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn...	ORPHA:93333
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Recurrent fractures, Hypercalcemia, Cranio...	ORPHA:251004
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Splenomegaly, Abnormal rib morph...	ORPHA:667
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Elevated circulating creatine kinase concentration, Osteolysis, Increased susceptibility to fract...	ORPHA:52430
Gapo Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Joint hyperflexibility, Abnormal ...	ORPHA:2067
2P21 Microdeletion Syndrome	Nephrolithiasis, Hypogonadism, Hypocalcemia, Cystinuria	ORPHA:163693
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Aortic valve stenosis, Pulmonic stenosis, Po...	OMIM:615382
Pachyonychia Congenita	Advanced eruption of teeth, Natal tooth, Angular cheilitis, Oral leukoplakia	ORPHA:2309
Familial Multiple Lipomatosis	Odontogenic keratocysts of the jaw, Bowing of the long bones, Lipodystrophy, Increased adipose ti...	ORPHA:199276
Autosomal Dominant Hypocalcemia	Hypercalciuria, Reduced bone mineral density, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, ...	ORPHA:428
Agammaglobulinemia 4, Autosomal Recessive	Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Chronic sinusitis	OMIM:613502
Cockayne Syndrome A	Mandibular prognathia, Hip contracture, Reduced subcutaneous adipose tissue, Delayed eruption of ...	OMIM:216400
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Oligodontia, Hypodontia	ORPHA:447896
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Chronic sinusitis, Recurrent bronchitis, Recurrent Haemophilus influenzae infections	OMIM:300455
Cartilage-Hair Hypoplasia	Metaphyseal chondrodysplasia, Tibial bowing, Hypocalcemia, Short palm, Neutropenia, Abnormal bone...	ORPHA:175
Phelan-Mcdermid Syndrome	Micrognathia, Dental malocclusion, 2-3 toe syndactyly, Recurrent infections, High palate, Widely ...	OMIM:606232
Lipoyltransferase 1 Deficiency	Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Bradycardia, Pulmonary arterial h...	OMIM:616299
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, O...	ORPHA:98850
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Broad hallux, Overlapping toe, Micrognathia, Genu valgum, Broad thumb, Contracture of the proxima...	ORPHA:293967
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Pancytopenia, Elevated hepatic transaminase, Recurrent urinary tract in...	OMIM:613658
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin upper lip vermilion, Syndactyly, Brachydactyly, Velopharyngeal insufficiency, Submucous clef...	OMIM:614701
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi...	OMIM:618729
Congenital Disorder Of Glycosylation, Type Iim	Mandibular prognathia, Exaggerated cupid's bow, Recurrent infections, Fused teeth, High palate, S...	OMIM:300896
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Bradycardia, Mildly elevated creatine kinase	OMIM:620265
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Downturned corners of mouth, Everted lower lip vermilion, Widely spaced teeth, Advanced eruption ...	OMIM:617865
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi...	OMIM:613496
Arthrogryposis And Ectodermal Dysplasia	Abnormal dental enamel morphology, Cleft upper lip, Cleft palate, Orofacial cleft, Atypical scarr...	OMIM:601701
Immunodeficiency, Common Variable, 3	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Recurre...	OMIM:613493
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Arthropathy, Diabetes mellitus, Increased circulating ferritin con...	ORPHA:79230
Alpha-Heavy Chain Disease	Splenomegaly, Hypocalcemia, Anemia, Lymphadenopathy	ORPHA:100025
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Persistence of primary teeth, Carious teeth, ...	ORPHA:93325
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Elevated circulating alkaline phosphatase concentration, Paget disease of bone, Elevated circulat...	OMIM:615422
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Short palm, Micrognathia, Hypoplastic ilia, Patellar ...	ORPHA:85201
Ectodermal Dysplasia And Immunodeficiency 1	Severe cytomegalovirus infection, Conical incisor, Molluscum contagiosum, Recurrent bacterial inf...	OMIM:300291
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reacti...	OMIM:619381
Prolidase Deficiency	Recurrent respiratory infections, Recurrent cystitis, Arachnodactyly, Micrognathia, Carious teeth...	ORPHA:742
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short femur, Fractured radius, Decreased fibular diameter, Micrognathia, Multiple pre...	OMIM:616897
Melnick-Needles Syndrome	Delayed eruption of teeth, Obtuse angle of mandible, Short humerus, Hypoplastic scapulae, Omphalo...	OMIM:309350
Dyskeratosis Congenita	Recurrent respiratory infections, Recurrent fractures, Abnormality of the dentition, Hypoplasia o...	ORPHA:1775
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Anterior open-bite malocclusion	ORPHA:83601
Osteopetrosis With Renal Tubular Acidosis	Abnormal circulating enzyme concentration or activity, Pancytopenia, Recurrent fractures, Elevate...	ORPHA:2785
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o...	OMIM:268305
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Short palm, Dental crowding, Abnormality of the dentition, Micrognathia, Unilateral radial aplasi...	ORPHA:476126
Trichothiodystrophy 3, Photosensitive	Carious teeth, Natal tooth, Recurrent infections, Eclabion	OMIM:616395
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal met...	ORPHA:2370
Robinow Syndrome, Autosomal Dominant 3	Omphalocele, Syndactyly, Micrognathia, Cleft lip, Clinodactyly, Dental malocclusion, Gingival ove...	OMIM:616894
Costello Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, Thick lower lip vermilion, Narro...	ORPHA:3071
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Hallux valgus, Dental crowding, Broad hallux, S...	OMIM:614188
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Carious teeth, Deep philtrum, Thick lower lip vermilion, Thin vermilion border, Abnormal palate m...	ORPHA:2701
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercho...	OMIM:612526
Lethal Acantholytic Erosive Disorder	Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Clinodactyly of the 5th ...	ORPHA:158687
Atelis Syndrome 1	Carious teeth, Recurrent infections, High palate, Long philtrum	OMIM:620184
Hennekam Syndrome	Delayed eruption of teeth, Finger syndactyly, Recurrent respiratory infections, Abnormal dental m...	ORPHA:2136
Schwartz-Jampel Syndrome	Micrognathia, Coxa vara, High palate, Wrist flexion contracture, Pursed lips, Increased bone mine...	ORPHA:800
Camurati-Engelmann Disease	Delayed eruption of teeth, Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal mor...	ORPHA:1328
Pseudohypoparathyroidism Type 2	Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone...	ORPHA:94090
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath...	OMIM:203330
Noonan Syndrome 4	Wide mouth, Thick vermilion border, Dental malocclusion	OMIM:610733
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta...	OMIM:108720
Hyperparathyroidism, Transient Neonatal	Osteopenia, Hyperparathyroidism, Short femur, Wide cranial sutures, Recurrent fractures, Metaphys...	OMIM:618188
Camurati-Engelmann Disease	Mandibular prognathia, Reduced subcutaneous adipose tissue, Increased bone mineral density, Cario...	OMIM:131300
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Lipodystrophy, Micrognathia, Hypoplasia of the ...	OMIM:209885
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Brachydactyly, Delayed ossification of carpal bones, Short femoral neck, Reduced bone mineral den...	OMIM:618392
Orofaciodigital Syndrome Type 1	Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t...	ORPHA:2750
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max...	OMIM:211380
Duplication Of The Pituitary Gland	Abnormality of joint mobility, Supernumerary tooth, Abnormality of the tongue, Cleft palate, Wide...	ORPHA:314621
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Inguinal hernia, Tapered finger, Abnormality of the dentition, Thick lower lip vermi...	ORPHA:261652
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Hypoplasia of teeth	OMIM:234050
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Flexion contracture of finger, Brachydactyly, Lipoatrophy, Recurrent f...	OMIM:601812
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteopenia, Osteoporosis, Delayed puberty	OMIM:615271
Achondroplasia	Brachydactyly, Radial bowing, Rhizomelia, Short femur, Limited hip extension, Bowing of the legs,...	OMIM:100800
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Inguinal hernia, Sandal gap, Abnormal dental enamel morphology, Cleft palate, Abnormal fibula mor...	ORPHA:1812
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Erosion of oral mucosa, Foot joint contracture, Oral mucosal blisters, Carious teeth,...	ORPHA:79408
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Pachyonychia Congenita 2	Oral leukoplakia, Natal tooth, Angular cheilitis	OMIM:167210
Congenital Disorder Of Glycosylation, Type Iiy	Hip subluxation, Reduced bone mineral density	OMIM:620200
Hepatorenocardiac Degenerative Fibrosis	Portal hypertension, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstiti...	OMIM:619902
Selective Igm Deficiency	Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infecti...	ORPHA:331235
Immunodeficiency 12	Recurrent viral infections, Clubbing, Cheilitis, Osteoporosis, Recurrent bacterial infections, Re...	OMIM:615468
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Osteopenia, Proteinuria, Avascular necrosis of the capital femoral epiphysis, Renal hypoplasia, B...	OMIM:611555
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Conical tooth, Micrognathia, Supernumerary tooth, Widely spaced teeth, Hypodontia, Microdontia	ORPHA:90024
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Conical tooth, M...	ORPHA:1071
Generalized Pustular Psoriasis	Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive...	ORPHA:247353
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy, Failure to thrive	OMIM:618235
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Recurrent bacterial infections, Recurrent otitis media, Chronic sinusitis, R...	OMIM:612692
Au-Kline Syndrome	Overlapping toe, Postaxial polydactyly, Coxa valga, Sagittal craniosynostosis, Craniosynostosis, ...	OMIM:616580
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Clinodactyly, Thick vermilion border, Everted lower lip vermilion, Hig...	OMIM:615866
Hermansky-Pudlak Syndrome 2	Thin upper lip vermilion, Chronic oral candidiasis, Carious teeth, Recurrent pneumonia, Recurrent...	OMIM:608233
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa...	ORPHA:1860
Martin-Probst Syndrome	Micrognathia, Thick lower lip vermilion, Dental malocclusion, Wide mouth, Umbilical hernia, Malar...	OMIM:300519
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Joint laxity, Arachnodactyly, Broad hallux, Dental malocclusion, High palate, Short finger, Malar...	OMIM:601552
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Tapered finger, Flat capital femoral epiphysis, Flexion contracture, Flattened epiphy...	ORPHA:157965
8P Inverted Duplication/Deletion Syndrome	Micrognathia, High, narrow palate, Long fingers, Abnormality of dental eruption, Hip dislocation,...	ORPHA:96092
Acrofacial Dysostosis, Catania Type	Microretrognathia, Smooth philtrum, Finger syndactyly, Inguinal hernia, Abnormality of the dentit...	ORPHA:1786
Myopathy, Myofibrillar, 1	Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa...	OMIM:601419
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital...	ORPHA:2239
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Natal tooth, Omphalocele, Hamartoma of tongue, Postaxial polydactyly, Cleft li...	OMIM:616300
Pancreatic Triacylglycerol Lipase Deficiency	Iron deficiency anemia, Osteoporosis, Osteomalacia, Rickets	ORPHA:309031
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Abnormal pelvic girdle bone morphology, Paget disease of bone, Elevated alkaline phosphatase of b...	OMIM:167320
Immunodeficiency 110 With Lymphoproliferation	Recurrent viral infections, Recurrent upper respiratory tract infections, Recurrent pneumonia, Se...	OMIM:614868
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Microphthalmia, Lenz Type	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger...	ORPHA:568
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Inguinal hernia, Split hand, Thick lower lip vermilion, Flexion contra...	OMIM:309900
Lacrimoauriculodentodigital Syndrome 2	Duplication of thumb phalanx, Conical tooth, Carious teeth, Abnormal thumb morphology, Hypodontia...	OMIM:620192
Koolen-De Vries Syndrome	Vertebral fusion, Arachnodactyly, Abnormal dental enamel morphology, Abnormality of the dentition...	ORPHA:96169
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Abnormality of dental color, Recurrent fractures, Abnormal toe morphology, Abnormal f...	OMIM:163200
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal blood ion concentration, Iron deficiency anemia, Tubulointerstitial nephritis, Hypoalbum...	ORPHA:37042
Severe Generalized Junctional Epidermolysis Bullosa	Erosion of oral mucosa, Recurrent urinary tract infections, Abnormal oral mucosa morphology, Abno...	ORPHA:79404
Hypergonadotropic Hypogonadism-Cataract Syndrome	Hypergonadotropic hypogonadism, Recurrent fractures, Increased circulating gonadotropin level, Ab...	ORPHA:2410
Singleton-Merten Syndrome 1	Osteopenia, Thin upper lip vermilion, Hypoplastic distal radial epiphyses, Recurrent respiratory ...	OMIM:182250
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars...	ORPHA:93307
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Proteinuria, Abnormal circulating fatty-acid concentration, Hyperi...	ORPHA:263455
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Idiopathic Congenital Hypothyroidism	Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Bradycardia, Neonatal hyperbi...	ORPHA:95717
Emanuel Syndrome	Broad jaw, Chronic oral candidiasis, Inguinal hernia, Congenital hip dislocation, Dental crowding...	OMIM:609029
Usher Syndrome	Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology	ORPHA:886
Lacrimoauriculodentodigital Syndrome	Micrognathia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnormal digit mo...	ORPHA:2363
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Inguinal hernia, Exaggerated cupid's bow, Arachnodactyly, Camptodactyly of fin...	ORPHA:2215
Immunodeficiency, Common Variable, 2	Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent otitis media,...	OMIM:240500
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Renal insufficiency, Proteinuria, Ankle swelling, Wrist swelling, Stage 5 chronic kid...	OMIM:166300
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Carious teeth, Downturned corners of mouth, Hypoplasia of the zygomatic bo...	ORPHA:1110
Treacher-Collins Syndrome	Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, H...	ORPHA:861
Mucolipidosis Type Iii	Craniofacial hyperostosis, Joint stiffness, Reduced bone mineral density, Abnormal hip bone morph...	ORPHA:577
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Knee flex...	OMIM:608836
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Abnormal dental enamel ...	ORPHA:464
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiac ...	OMIM:212138
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Congestive heart failure, Myocarditis, Hypovolemia, Abnormal b...	ORPHA:31824
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Hernia, Finger syndactyly, Abnormal dental morphology, Abnormal ...	ORPHA:2092
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Osteopenia, Hypogonadotropic hypogonadism	OMIM:615266
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Open bite, Abnormality of the ...	OMIM:115150
Emanuel Syndrome	Delayed eruption of teeth, Broad jaw, Inguinal hernia, Congenital hip dislocation, Dental crowdin...	ORPHA:96170
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Osteomyelitis, Thrombocytopenia, Hepatitis, Arthritis, Hyp...	ORPHA:47
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Prolonged QT interval, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elevat...	OMIM:613327
Pachydermoperiostosis	Osteomyelitis, Elevated circulating growth hormone concentration, Splenomegaly, Limitation of joi...	ORPHA:2796
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi...	ORPHA:1507
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia...	ORPHA:199302
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Short palm, Hypoplastic iliac wing, Spina bifida occulta, Gingival ove...	OMIM:235510
Turnpenny-Fry Syndrome	Mandibular prognathia, Dental crowding, Prominent interphalangeal joints, Downturned corners of m...	OMIM:618371
Stickler Syndrome	Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Reduced bone mineral density, Glossoptos...	ORPHA:828
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Diffuse Cutaneous Systemic Sclerosis	Carious teeth, Flexion contracture, Osteolysis, Arthritis, Narrow foramen obturatorium	ORPHA:220393
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morpho...	ORPHA:1896
Distal Duplication 5Q	Hypoplasia of the ulna, Brachydactyly, Craniosynostosis, Micrognathia, Carious teeth, Absent thum...	ORPHA:96097
Mu-Heavy Chain Disease	Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteolysis, Lymphaden...	ORPHA:100024
Oculoskeletodental Syndrome	Renal agenesis, Hypercalcemia, Splenomegaly, Elbow flexion contracture, Hypercalciuria, Mucopolys...	OMIM:618440
Shwachman-Diamond Syndrome	Delayed eruption of teeth, Osteopenia, Sinusitis, Osteomyelitis, Recurrent viral infections, Cari...	ORPHA:811
Andersen-Tawil Syndrome	Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathi...	ORPHA:37553
Blue Diaper Syndrome	Elevated hepatic transaminase, Hypercalcemia, Elevated circulating thyroid-stimulating hormone co...	ORPHA:94086
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Lipodystrophy, Cellulitis, Advanced er...	ORPHA:2348
Immunodeficiency 49	Natal tooth, Umbilical hernia, Short philtrum, Micrognathia	OMIM:617237
Gorlin Syndrome	Mandibular prognathia, Vertebral fusion, Arachnodactyly, Carious teeth, Brachydactyly	ORPHA:377
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Increased susceptibility to fractures, Recurrent fractures, Femoral bowing	OMIM:615066
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thin upper lip vermilion, Inguinal hernia, Tented upper lip vermilion, Overlapping toe, Proximal ...	ORPHA:487796
Familial Adenomatous Polyposis 1	Carious teeth, Supernumerary tooth, Eruption failure, Multiple lipomas, Odontoma, Keloids	OMIM:175100
Wild Type Attr Amyloidosis	Abnormal EKG, Hepatomegaly, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive h...	ORPHA:330001
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia	OMIM:618782
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Cockayne Syndrome B	Mandibular prognathia, Reduced subcutaneous adipose tissue, Delayed eruption of primary teeth, Ca...	OMIM:133540
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Elevated circulating alkaline phosphatase concentration, Osteoporosis	ORPHA:529665
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,...	ORPHA:85445
Multiple Myeloma	Osteopenia, Hypercalcemia, Splenomegaly, Nephropathy, Elevated circulating creatinine concentrati...	ORPHA:29073
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bow...	OMIM:602111
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Short femur, Foot oligodactyly, Amelia	OMIM:601357
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Nephrolith...	OMIM:606407
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia, Elevated leukocyte alkaline phosphatase	OMIM:162830
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl...	ORPHA:60041
Estrogen Resistance Syndrome	Osteopenia, Elevated tissue non-specific alkaline phosphatase, Increased circulating gonadotropin...	ORPHA:785
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Abnormalit...	ORPHA:783
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Brachydactyly, Dental crowding, Persistence of primary teet...	ORPHA:97360
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Osteoarthritis of the small joints of the hand, Inguinal hernia, Arachnodactyly, Pr...	ORPHA:284984
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Cardiomegaly, Hyperammonemia, Bradycardia, Hyperalaninemia, Hypertroph...	OMIM:614702
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Hepatomegaly, Failure to thrive, Enlarged kidney	OMIM:615285
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Overlapping toe, Micr...	OMIM:619148
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,...	OMIM:145600
Focal Dermal Hypoplasia	Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata, Short metatarsa...	OMIM:305600
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Inguinal hernia, Large for gestational age, Umbilical hernia, Nephroblastoma, Enlarged kidney	OMIM:618272
Orofaciodigital Syndrome Xix	Toe syndactyly, Broad hallux, Cleft soft palate, Accessory oral frenulum, Type A brachydactyly, C...	OMIM:620107
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
De Barsy Syndrome	Delayed eruption of teeth, Osteopenia, Inguinal hernia, Congenital hip dislocation, Lipodystrophy...	ORPHA:2962
Rubinstein-Taybi Syndrome 1	Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Flexion contractur...	OMIM:180849
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ...	OMIM:614372
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Metaphyseal wid...	ORPHA:93357
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy...	OMIM:231095
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, High, narrow palate, Downturned corners of mouth, Bifid uvula, Joint laxity, Exaggera...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, High, narrow palate, Downturned corners of mouth, Bifid uvula, Joint laxity, Exaggera...	ORPHA:352665
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Renal insufficiency, Hypocalcemia, Nephropathy, Hypothyroidism, Short distal ...	ORPHA:1563
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Holoprosencephaly 9	Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Postaxial hand polydact...	OMIM:610829
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Hamartoma of tongue, Micrognathia, Postaxial polydactyly, Cleft lip, Wide anterior f...	OMIM:617925
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Conical incisor, Radial deviation of the 3rd finge...	OMIM:149730
Bosma Arhinia Microphthalmia Syndrome	Inguinal hernia, Paranasal sinus hypoplasia, Cleft lip, Dental malocclusion, Cleft palate, Hypopl...	OMIM:603457
Opsismodysplasia	Short metacarpal, Anterior rib cupping, Squared iliac bones, Hypoplastic pubic bone, Flat acetabu...	OMIM:258480
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Epiphyseal dysplasia, Inguinal hernia, Joint stiffness, Carious teeth,...	OMIM:253200
Bacterial Toxic-Shock Syndrome	Renal insufficiency, Osteomyelitis, Recurrent urinary tract infections, Elevated circulating crea...	ORPHA:36234
Late-Onset Isolated Acth Deficiency	Hyponatremia, Normocytic anemia, Macrocytic anemia, Decreased circulating cortisol level, Hypopar...	ORPHA:199299
Johanson-Blizzard Syndrome	Microdontia, Oligodontia, Abnormality of the dentition, Delayed eruption of teeth	ORPHA:2315
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Thin upper lip vermilion, Joint hypermobility, Carious teeth, High palate, Long philtrum, Smooth ...	OMIM:620191
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617182
Ring Chromosome 10 Syndrome	Renal hypoplasia/aplasia, Sandal gap, Hypocalcemia, Tapered finger	ORPHA:1438
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res...	OMIM:608022
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndact...	ORPHA:87
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Proteinuria, Cardiac ...	ORPHA:439232
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased serum insulin-like growth factor 1, Ulnar deviation of the wrist, Elbow contracture, Pa...	OMIM:618162
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Hyperphosphaturia, Calcification of the auricular cartilage, Elevated al...	ORPHA:51608
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S...	OMIM:608728
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border	OMIM:620114
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors	OMIM:610706
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalc...	OMIM:601678
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentr...	ORPHA:94093
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection...	ORPHA:275
Monosomy 18P	Micrognathia, Carious teeth, Cleft palate, Downturned corners of mouth, Short philtrum, Hypodonti...	ORPHA:1598
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616276
Chand Syndrome	Short fifth metatarsal, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphol...	ORPHA:1401
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Capitat...	ORPHA:289
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Tented upper lip vermilion, Tapered finger, Long fingers, Calcaneovalgus d...	ORPHA:521445
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill...	OMIM:614022
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Median cleft lip, Accessory oral frenulum, Postaxial polydactyly, Supernumerary tooth, Postaxial ...	OMIM:617088
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Hyperpepsinogenemia I, Cardiom...	OMIM:615745
Dyskeratosis Congenita, Autosomal Recessive 6	Carious teeth, Premature loss of teeth, Oral leukoplakia	OMIM:616353
Timothy Syndrome	Prolonged QT interval, Cardiomegaly, Ventricular tachycardia, Atrioventricular block, Bradycardia...	OMIM:601005
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Omphalocele, Micrognathia, ...	OMIM:247200
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th...	ORPHA:2502
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Joint dislocation, Recurrent urinary tract infections, Joint stiffness, Splenomegaly, Reduced bon...	OMIM:620210
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Recurrent upper respiratory tract inf...	ORPHA:508542
Sotos Syndrome	Mandibular prognathia, Joint laxity, High, narrow palate, Long metacarpals, Narrow jaw, Narrow pa...	OMIM:117550
7Q11.23 Microduplication Syndrome	Thin upper lip vermilion, Inguinal hernia, Short lingual frenulum, Craniosynostosis, Micrognathia...	ORPHA:96121
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Flexion contracture, Tibial bowing, Shoulder dislocation, High palate, Wid...	OMIM:143095
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Hyperlipidemia, Osteoporosis, Nephrolithiasis, Gout, Hypertension, Foc...	OMIM:232200
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Cystic Echinococcosis	Elevated hepatic transaminase, Eosinophilia, Abscess, Jaundice, Bone cyst, Renal cyst, Membranous...	ORPHA:400
Autosomal Dominant Robinow Syndrome	Micrognathia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Downturned corners of m...	ORPHA:3107
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr...	OMIM:601494
Tetanus	Tachycardia, Stiff neck, Elevated circulating creatine kinase concentration, Elevated urinary nor...	ORPHA:3299
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Immunodeficiency, Common Variable, 1	Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent otitis media,...	OMIM:607594
Cohen Syndrome	Short metacarpal, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Tapered finger, S...	OMIM:216550
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
Gardner Syndrome	Abnormality of the dentition, Supernumerary tooth, Odontoma, Multiple unerupted teeth, Lipoma, Ke...	ORPHA:79665
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,...	ORPHA:280365
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616277
Familial Thyroid Dyshormonogenesis	Delayed proximal femoral epiphyseal ossification, Bradycardia, Umbilical hernia, Abnormal circula...	ORPHA:95716
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav...	ORPHA:101016
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Elevated hepatic iron con...	ORPHA:231222
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Overlapping toe, Craniosynostosis, Gingival overgrowth, Narrow palate, High palate, ...	OMIM:123790
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Hyperalaninemia, Bradycardia	OMIM:614654
Cutis Laxa, Autosomal Recessive, Type Iia	Inguinal hernia, Congenital hip dislocation, Lipodystrophy, Carious teeth, Narrow mouth, Wide ant...	OMIM:219200
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Recurrent urinary tract infections, Amelogenesis imperfecta	OMIM:248190
Lelis Syndrome	Mandibular prognathia, Carious teeth, Hypodontia, Furrowed tongue	ORPHA:140936
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, ...	OMIM:303600
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, High palate, Clinoda...	ORPHA:235
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Hypocalcemia, Neutropenia, Hyp...	ORPHA:699
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections	OMIM:308220
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the ma...	OMIM:305100
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Large for gestational age, Delayed epiphyseal ossification, Bradycardia, Umbilical hernia, Absent...	ORPHA:226313
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Gm1-Gangliosidosis, Type Ii	Coxa valga, Joint stiffness, Splenomegaly, Patent ductus arteriosus, Decreased beta-galactosidase...	OMIM:230600
Barber-Say Syndrome	Delayed eruption of teeth, Wide mouth	ORPHA:1231
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Diffuse Neonatal Hemangiomatosis	Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Patent ductus arteriosus, Anemia, T...	ORPHA:2123
Lead Poisoning	Delayed eruption of teeth, Cranial hyperostosis	ORPHA:330015
Chromosome 19Q13.11 Deletion Syndrome, Distal	Reduced subcutaneous adipose tissue, Inguinal hernia, Overlapping toe, Micrognathia, Carious teet...	OMIM:613026
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
Coxoauricular Syndrome	Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology, Reduced bone ...	ORPHA:1508
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Recurrent viral infections, Recurrent pneumonia, Recurrent ba...	OMIM:243700
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Rocker bottom foot, Micrognathia, Carious teeth, Tapered finger, Alveolar ridge overgrowth, Downt...	OMIM:620070
Wrinkly Skin Syndrome	Delayed eruption of teeth, Osteopenia, Inguinal hernia, Congenital hip dislocation, Lipodystrophy...	ORPHA:2834
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Recurrent respiratory infections, Tented upper ...	ORPHA:261494
Glutamine Deficiency, Congenital	Hypoglutaminemia, Flexion contracture, Hyperammonemia, Bradycardia, Camptodactyly	OMIM:610015
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Beta-Thalassemia	Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytop...	ORPHA:848
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Short palm, Duplication of the distal ...	OMIM:268310
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Sandal gap, Hypospadias, Patent ductus arteriosus, Hypoplasia of the ...	OMIM:607143
Johnson Neuroectodermal Syndrome	Carious teeth, Preaxial hand polydactyly, Cleft palate, Hand polydactyly, Everted lower lip vermi...	ORPHA:2316
Analbuminemia	Patent ductus arteriosus, Osteoporosis, Elevated circulating transferrin concentration, Increased...	OMIM:616000
Ane Syndrome	Multiple joint contractures, Lipoatrophy, Carious teeth, Hypodontia, Premature loss of teeth	ORPHA:157954
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Joint laxity, Natal tooth, Recurrent urinary tract infections, Recurrent respiratory infections, ...	ORPHA:353281
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Broad hallux, Sandal gap, Persistence of primary teeth, Supernumerary ...	OMIM:300166
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Joint laxity, Narrow palate, Recurrent infections, Short upper lip, Thick ...	ORPHA:364028
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Splenomegaly, Hyperlipidemia, Osteoporosis, Nephrolithiasis, Gout, Hyp...	OMIM:232220
Adamantinoma	Pathologic fracture, Hypercalcemia	ORPHA:55881
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent respiratory infections, Recurrent herpes, Sinusitis, Recurrent viral infections, Recurr...	ORPHA:572
H Syndrome	Hypertriglyceridemia, Lipodystrophy, Recurrent fractures, Abnormality of the kidney, Abnormal car...	ORPHA:168569
Hypercalcemia, Infantile, 1	Polyuria, Hypercalcemia, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hyperc...	OMIM:143880
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Micrognathia, ...	OMIM:300990
Mannosidosis, Alpha B, Lysosomal	Mandibular prognathia, Inguinal hernia, Gingival overgrowth, Femoral bowing, Macroglossia, Recurr...	OMIM:248500
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Congestive heart failure, Splenomegaly, Flexion contracture, Nephrotic...	OMIM:617303
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,...	OMIM:116920
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marro...	OMIM:278000
Tyrosinemia, Type I	Hypertyrosinemia, Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Elevated circul...	OMIM:276700
Spondyloepimetaphyseal Dysplasia, X-Linked	Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Sh...	OMIM:300106
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el...	OMIM:261740
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Orofacial cleft, Joint hyperflexib...	ORPHA:77301
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Carious teeth, Osteoporosis, Oral ulcer, Gingivitis, Increased susceptibility to frac...	ORPHA:79259
Carpenter Syndrome 2	High, narrow palate, Preaxial polydactyly, Coxa vara, Knee flexion contracture, Cutaneous finger ...	OMIM:614976
Poikiloderma With Neutropenia	Joint laxity, Micrognathia, Carious teeth, Joint stiffness, Recurrent bronchopulmonary infections...	OMIM:604173
Dyskeratosis Congenita, Autosomal Recessive 1	Microdontia, Carious teeth, Oral leukoplakia, Osteoporosis	OMIM:224230
Rhyns Syndrome	Osteopenia, Renal insufficiency, Radial bowing, Decreased response to growth hormone stimulation ...	OMIM:602152
Wrinkly Skin Syndrome	Microretrognathia, Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Inguinal he...	OMIM:278250
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Sinusitis,...	ORPHA:83471
Chromomycosis	Ankylosis, Osteolysis, Atypical scarring of skin, Recurrent bacterial infections, Abnormal oral c...	ORPHA:182
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Failure to thrive, Joint contracture of the 5th finger, Bradycardia, Atrioventricular block	OMIM:614407
Endocrine-Cerebroosteodysplasia	Natal tooth, Syndactyly, Median cleft lip, Bowed forearm bones, Bilateral cleft lip, Sandal gap, ...	OMIM:612651
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potass...	ORPHA:79102
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Precocious...	ORPHA:369837
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
Kindler Epidermolysis Bullosa	Finger syndactyly, Abnormal dental enamel morphology, Premature loss of primary teeth, Camptodact...	ORPHA:2908
Stuve-Wiedemann Syndrome 1	Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Smooth tongue, Short tibia...	OMIM:601559
Meckel Syndrome, Type 8	Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Ramon Syndrome	Delayed eruption of teeth, Juvenile rheumatoid arthritis, Gingival fibromatosis, Narrow palate	OMIM:266270
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu...	OMIM:618849
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Delayed eruption of teeth, Hyperextensibility of the finger joints, Short ...	OMIM:135500
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Low neutrophil al...	OMIM:245480
Cockayne Syndrome Type 3	Carious teeth, Enamel hypoplasia, Flexion contracture	ORPHA:90324
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula...	ORPHA:730
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Elevated circulating alkaline phosphatase concentration, Renal cyst, Increased total bilirubin	OMIM:174050
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis	OMIM:613789
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Limb joint contracture, Tapered finger, Flexion contracture, Alveolar ...	OMIM:301072
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Osteopenia, Hypogonadism, Osteoporosis, Absence of pubertal development	OMIM:615267
Cln3 Disease	Left ventricular hypertrophy, T-wave inversion, Urinary bladder sphincter dysfunction, Bradycardia	ORPHA:228346
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop...	OMIM:617222
Paget Disease Of Bone 6	Elevated circulating alkaline phosphatase concentration, Nephrocalcinosis, Osteoarthritis, Recurr...	OMIM:616833
Congenital Disorder Of Glycosylation, Type Iif	Recurrent bacterial infections, Clinodactyly, Short philtrum	OMIM:603585
Myelolymphatic Insufficiency	Recurrent bacterial infections, Recurrent viral infections	OMIM:310350
Bloom Syndrome	Syndactyly, Recurrent upper respiratory tract infections, Agenesis of maxillary lateral incisor, ...	OMIM:210900
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Recurrent bacterial infections	OMIM:613495
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia, Coxa valga	OMIM:191420
Stüve-Wiedemann Syndrome	Osteopenia, Flexion contracture of finger, Bowing of the long bones, Recurrent fractures, Camptod...	ORPHA:3206
Apc-Related Attenuated Familial Adenomatous Polyposis	Odontoma, Supernumerary tooth, Lipoma	ORPHA:247806
Nasu-Hakola Disease	Bone cyst, Limitation of joint mobility, Acute leukemia, Reduced bone mineral density, Abnormal e...	ORPHA:2770
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Absent leukocyte alkaline phosphatase	OMIM:242880
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent bacterial infections, Recurrent candida infections	OMIM:242870
Distal Deletion 12Q	Median cleft lip, Broad hallux, Overlapping toe, Micrognathia, High, narrow palate, Supernumerary...	ORPHA:96149
Hereditary Fructose Intolerance	Renal insufficiency, Reduced circulating aldolase concentration, Jaundice, Chronic kidney disease...	ORPHA:469
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Abnormal dental morphology, Delayed eruption of primary teet...	ORPHA:191
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thyroid lymphangiectasia, Splenomegaly, Postaxial hand polydactyly, Hypocalcemia, Micropenis, Hep...	OMIM:235255
Orofaciodigital Syndrome Type 14	Microretrognathia, Broad hallux, Deviation of the hallux, Hamartoma of tongue, Accessory oral fre...	ORPHA:434179
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent ear infection...	ORPHA:221139
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Epiphyseal dysplasia, Deep philtrum, High palate, Open mouth, Retrogna...	ORPHA:1675
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Osteopenia, Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Clubbing of fingers, Bone...	OMIM:614742
Illum Syndrome	Calcinosis, Arthrogryposis multiplex congenita, Bradycardia	OMIM:208155
Gapo Syndrome	Micrognathia, High, narrow palate, Wide anterior fontanel, Thick lower lip vermilion, Eruption fa...	OMIM:230740
Estrogen Resistance	Osteopenia, Increased circulating osteocalcin level, Elevated alkaline phosphatase of bone origin...	OMIM:615363
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteopenia, Hypogonadism, Osteoporosis, Delayed puberty	OMIM:615270
Congenital Myopathy 22A, Classic	Hip contracture, Tricuspid regurgitation, Achilles tendon contracture, Osteoporosis, Bradycardia,...	OMIM:620351
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Recurrent infections, Recurrent bacterial infections, Recurrent fu...	ORPHA:2688
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Recurrent en...	OMIM:307200
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Addison Disease	Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi...	ORPHA:85138
Rabson-Mendenhall Syndrome	Mandibular prognathia, Reduced subcutaneous adipose tissue, Dental crowding, Abnormality of the d...	ORPHA:769
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Iron deficiency anemia, Tub...	ORPHA:358
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Reduced bone mineral density, Abnorm...	ORPHA:1414
Monosomy 22Q13.3	Dental crowding, Dental malocclusion, Umbilical hernia, Clinodactyly of the 5th finger, Malar fla...	ORPHA:48652
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Joint laxity, Duplicated collecting system, Elevated circulating aspartate aminotransferase conce...	OMIM:617093
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Clubbing, Hypokalemia, Clubbing of fingers, Hypocalcemia, Hypomagnesemia, Anemia	OMIM:175500
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated hepatic transaminase, Hypercalcemia, Exercise-induced myoglobinuria, Abnormal lactate de...	ORPHA:284426
Tuberous Sclerosis 1	Dental enamel pits, Gingival fibromatosis, Shagreen patch	OMIM:191100
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, Advanced eruption of ...	ORPHA:818
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaund...	OMIM:214900
Adnp Syndrome	Joint laxity, Thin upper lip vermilion, Inguinal hernia, Recurrent urinary tract infections, Broa...	ORPHA:404448
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Proteinuria, Joint stiffness, Heparan sulfate excretion in ...	ORPHA:505248
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Broad hallux, Hamartoma of tongue, Micrognathia, Cleft lip, Super...	OMIM:615948
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, High, narrow palate, Thick l...	ORPHA:369950
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Inguinal hernia, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teet...	ORPHA:2250
Congenital Heart Defects And Skeletal Malformations Syndrome	Dental crowding, Arachnodactyly, Sandal gap, Joint hypermobility, Carious teeth, Congenital diaph...	OMIM:617602
Dubowitz Syndrome	Delayed eruption of teeth, Syndactyly, Inguinal hernia, Micrognathia, Carious teeth, Velopharynge...	OMIM:223370
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Osteopenia, Pancytopenia, Portal hypertension, Bone marrow hypocellularity, Abnormally low T cell...	OMIM:617341
Primary Intestinal Lymphangiectasia	Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia...	ORPHA:90362
Cinca Syndrome	Joint dislocation, Elevated circulating C-reactive protein concentration, Abnormality of neutroph...	ORPHA:1451
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c...	OMIM:613095
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Rhabdoid Tumor	Renal neoplasm, Hypercalcemia, Lymphadenopathy, Anemia, Hematuria, Thrombocytopenia	ORPHA:69077
Mucolipidosis Ii Alpha/Beta	Osteopenia, Aortic regurgitation, Hepatomegaly, Inguinal hernia, Increased serum beta-hexosaminid...	OMIM:252500
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Osteoporosis, Genu valgum, Small pituitary gland, Micropenis	OMIM:614880
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Limb joint contracture, Bradycardia	OMIM:619814
Blue Diaper Syndrome	Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Recurrent respiratory infections, Recurrent herpes, Recurrent urinary tract infections, Recurrent...	ORPHA:183675
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Splenomegaly, Postaxial hand polydactyly, Abnormal renal morphology, Hepatosplenomegaly, Hypocalc...	ORPHA:1655
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Joint laxity, Thick lower lip vermilion, Rec...	ORPHA:1465
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Hypercalcemia, Hurthle cell thyroid adenoma, Nephrolithiasis, Papillary rena...	OMIM:145001
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Low alkaline phosphatase, Brachydactyly	OMIM:618879
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Long philtrum, Thick lower lip vermilion, Mesiodens, Narrow mouth	ORPHA:314647
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Recurrent urinary tract infections, Abnormality of the dentition	ORPHA:2036
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu...	ORPHA:70592
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Short fourth metatarsal, Micrognathia, Widely spaced teeth, Short philtrum...	OMIM:619841
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Neutrophilia, Abscess, Elevated circulating C-reactive protein concent...	OMIM:612852
Bruck Syndrome 2	Osteopenia, Wormian bones, Flexion contracture, Elbow flexion contracture, Knee flexion contractu...	OMIM:609220
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Hypospadias, Abnormality of the kidney, Maturit...	OMIM:137920
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections	OMIM:616022
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Inguinal hernia, Joint contracture, Bradycardia	OMIM:614498
Cornelia De Lange Syndrome 1	Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, High, narrow palate, ...	OMIM:122470
Linear Skin Defects With Multiple Congenital Anomalies 3	Delayed eruption of primary teeth	OMIM:300952
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Elevated circulating thyroid-stimulating hormone co...	OMIM:618183
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Hyperextensibility of the finger joints, Hypospadias, Rocker bottom foot, Thrombocytope...	ORPHA:163979
Congenital Disorder Of Glycosylation, Type Iiw	Inguinal hernia, Micrognathia, Supernumerary tooth, Osteoporosis, Recurrent otitis media, Ankylog...	OMIM:619525
Short-Rib Thoracic Dysplasia 12	Omphalocele, Natal tooth, Brachydactyly, Median cleft lip, Hypoplastic scapulae, Inguinal hernia,...	OMIM:269860
Primary Biliary Cholangitis	Portal hypertension, Conjugated hyperbilirubinemia, Abnormality of the thyroid gland, Jaundice, O...	ORPHA:186
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, High palate, Joint laxity, Syndactyly, Broad hallux, Supernumerary...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, High palate, Joint laxity, Syndactyly, Broad hallux, Supernumerary...	ORPHA:353277
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Recurrent viral infections, Recurrent mycobacterial infectio...	ORPHA:911
Seizures-Scoliosis-Macrocephaly Syndrome	Overlapping toe, Abnormality of the kidney, Reduced bone mineral density	ORPHA:466926
Peroxisome Biogenesis Disorder 5A (Zellweger)	Persistent open anterior fontanelle, Conjugated hyperbilirubinemia, Renal cyst, Elevated gamma-gl...	OMIM:614866
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Lathosterolosis	Elevated hepatic transaminase, Toe syndactyly, Increased mean platelet volume, Acanthocytosis, In...	OMIM:607330
Senior-Loken Syndrome 9	Osteopenia, Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Tubulointerstitial ne...	OMIM:616629
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening...	OMIM:610984
Richards-Rundle Syndrome	Reduced bone mineral density, Ketonuria, Hypergonadotropic hypogonadism, Joint stiffness	ORPHA:1399
Familial Adenomatous Polyposis	Abnormality of the dentition, Supernumerary tooth, Eruption failure, Odontoma, Lipoma, Abnormal c...	ORPHA:733
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Elevated alkali...	OMIM:616828
Pitt-Hopkins Syndrome	Tapered finger, Hiatus hernia, Broad fingertip, Short metatarsal, Small hand, Wide mouth, Finger ...	ORPHA:2896
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primary teeth, High palate, ...	ORPHA:438216
Restrictive Dermopathy 1	Natal tooth, Limb joint contracture, Rocker bottom foot, Micrognathia, Wide anterior fontanel, An...	OMIM:275210
Cholera	Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo...	ORPHA:173
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Multiple rib fractures, Femur fracture, Splenomegaly, Anemia...	OMIM:612301
Mitochondrial Complex I Deficiency, Nuclear Type 37	Inguinal hernia, Hypospadias, Bradycardia, Pulmonary arterial hypertension, Failure to thrive	OMIM:619272
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Internally rotat...	OMIM:619503
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Finger syndactyly, Short toe, Orofacial cleft, Thin vermilion border, Everted lower ...	ORPHA:1519
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Autosomal Recessive Spastic Paraplegia Type 77	Macrodontia of permanent maxillary central incisor, Hip dysplasia, Retrognathia	ORPHA:466722
Aspartylglucosaminuria	Mandibular prognathia, Recurrent respiratory infections, Inguinal hernia, Abnormal morphology of ...	ORPHA:93
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve...	ORPHA:247598
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Lymphoid Interstitial Pneumonia	Hepatomegaly, Raynaud phenomenon, Weight loss, Pulmonary venous hypertension, Abnormality of conn...	ORPHA:79128
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Brain abscess, Diabetes mellitus, Anuria, Leukocytosis, Hyperkale...	ORPHA:544482
Dyskeratosis Congenita, Autosomal Dominant 1	Carious teeth, Premature loss of teeth, Osteoporosis, Oral leukoplakia	OMIM:127550
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Malignant Hyperthermia Of Anesthesia	High-output congestive heart failure, Myoglobinuria, Hyperkalemia, Ventricular tachycardia, Prema...	ORPHA:423
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Increased circ...	ORPHA:26793
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia	ORPHA:542306
Purine Nucleoside Phosphorylase Deficiency	Recurrent urinary tract infections, Sinusitis, Recurrent viral infections, Recurrent opportunisti...	OMIM:613179
Felty Syndrome	Recurrent urinary tract infections, Splenomegaly, Thrombocytopenia, Limitation of joint mobility,...	ORPHA:47612
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Epistaxis, Fractures of the long bones, Splenomegaly, Osteolysis, Hepatosple...	ORPHA:464329
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Noonan Syndrome 1	Micrognathia, High, narrow palate, Dental malocclusion, Cleft palate, Synovitis, High palate, Rad...	OMIM:163950
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
D-Glyceric Aciduria	Nonketotic hyperglycinemia, Aminoaciduria, Bradycardia, Micropenis, Failure to thrive	OMIM:220120
Difference Of Sex Development-Intellectual Disability Syndrome	Hypoplasia of penis, Genu valgum, Reduced bone mineral density, Hypogonadism, Spina bifida occulta	ORPHA:2983
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Elevated hepatic transaminase, Metaphyseal widening, Triangular shaped distal phalanges of the ha...	ORPHA:73230
Double Outlet Right Ventricle	Hypoparathyroidism, Abnormality of cartilage of external ear, Hypocalcemia, Truncus arteriosus, A...	ORPHA:3426
Free Sialic Acid Storage Disease	Splenomegaly, Nephrotic syndrome, Proteinuria, Reduced bone mineral density	ORPHA:834
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Primary Hyperoxaluria	Recurrent fractures, Abnormality of the dentition, Generalized osteosclerosis, Rootless teeth, Ab...	ORPHA:416
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Splenomegaly, Osteolysis, Lymphadenopathy	ORPHA:391
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Transient aminoaciduria, Hyperphosphaturia, Jaundice, Bicarbonatur...	OMIM:229600
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Prominent fingertip pads, M...	OMIM:615873
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy	Elevated circulating alkaline phosphatase concentration	OMIM:616917
Proximal Renal Tubular Acidosis	Enamel hypomineralization, Reduced bone mineral density	ORPHA:47159
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bon...	OMIM:301078
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Coxa vara, Limb und...	OMIM:602557
Werner Syndrome	Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate ...	OMIM:277700
Campomelic Dysplasia	Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patel...	OMIM:114290
Spinocerebellar Ataxia-Dysmorphism Syndrome	Genu recurvatum, Reduced bone mineral density, Joint hyperflexibility, Slender long bone, Cubitus...	ORPHA:1185
Classic Galactosemia	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Decreased s...	ORPHA:79239
Cerebrocostomandibular Syndrome	Short humerus, Congenital hip dislocation, Calcaneal epiphyseal stippling, Cleft soft palate, Mic...	OMIM:117650
Peters-Plus Syndrome	Short lingual frenulum, Proximal placement of thumb, Micrognathia, Hypoplasia of the maxilla, Lim...	OMIM:261540
Graft Versus Host Disease	Elevated hepatic transaminase, Dupuytren contracture, Acute hepatitis, Limited elbow movement, Ja...	ORPHA:39812
Weill-Marchesani Syndrome 1	Thin bony cortex, Joint stiffness, Patent ductus arteriosus, Broad phalanges of the hand, Broad r...	OMIM:277600
Cooper-Jabs Syndrome	Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Redu...	ORPHA:1488
46,Xx Gonadal Dysgenesis	Osteopenia, Streak ovary, Arachnodactyly, Increased circulating gonadotropin level, Reduced bone ...	ORPHA:243
Hermansky-Pudlak Syndrome	Abnormal dental enamel morphology	ORPHA:79430
Schinzel-Giedion Syndrome	Micrognathia, Abnormality of the gingiva, Tibial bowing, Short philtrum, High palate, Wide anteri...	ORPHA:798
Sepsis In Premature Infants	Hepatomegaly, Tachycardia, Small for gestational age, Elevated circulating C-reactive protein con...	ORPHA:90051
Liver Disease, Severe Congenital	Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, Elevated hepatic iron concentration, Join...	OMIM:619991
Loeys-Dietz Syndrome 3	Joint laxity, Uterine prolapse, Inguinal hernia, Arachnodactyly, Protrusio acetabuli, Craniosynos...	OMIM:613795
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Aortic valve stenosis, Pulmonic stenosis, Hypertrophic cardiomyopathy, Cystic renal...	OMIM:615415
Opitz Gbbb Syndrome	Omphalocele, Natal tooth, Inguinal hernia, Craniosynostosis, Micrognathia, Congenital diaphragmat...	ORPHA:2745
22Q11.2 Deletion Syndrome	Hypoplasia of the thymus, Hypocalcemia, Vesicoureteral reflux, Hypothyroidism, Hypoparathyroidism...	ORPHA:567
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Hypercalcemia, Elevated urinary norepinephrine level, Elevated ur...	ORPHA:94080
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac...	OMIM:609162
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hype...	ORPHA:73224
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Diabetes mellitus, Unilateral renal age...	ORPHA:2237
Griscelli Syndrome, Type 2	Recurrent bacterial infections	OMIM:607624
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cardiomyopathy, Arrhythmia, Bradycardia	OMIM:609286
Porphyria, Congenital Erythropoietic	Osteopenia, Erythrodontia, Osteolysis, Corneal scarring, Atypical scarring of skin, Pathologic fr...	OMIM:263700
Immunodeficiency With Hyper-Igm, Type 1	Sepsis, Oral ulcer, Gingivitis, Recurrent bacterial infections, Chronic oral candidiasis, Stomati...	OMIM:308230
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Pallister-Hall Syndrome	Natal tooth, Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, ...	OMIM:146510
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Elevated circulating alkaline phosphatase concentration, Elevated circulating creatine kinase con...	OMIM:615424
Osteootohepatoenteric Syndrome	Proteinuria, Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Grade II v...	OMIM:619377
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Proteinuria, Abnormal T cell morphology, Nephrotic syndrome, Mucopolysacchariduria, Generalized b...	OMIM:215250
Adrenomyodystrophy	Abnormality of the urinary system, Primary adrenal insufficiency, Megacystis, Reduced bone minera...	ORPHA:977
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis...	ORPHA:340
Adult-Onset Still Disease	Elevated hepatic transaminase, Generalized lymphadenopathy, Neutrophilia, Elevated circulating C-...	ORPHA:829
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Small for gestational age, Elevated circulating creatine kinase con...	OMIM:618775
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula...	ORPHA:470
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Elevated circu...	ORPHA:263501
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Delayed proximal femoral epiphyseal ossification, Brad...	ORPHA:90673
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Congenital diaphragmatic hernia, Narrow greater sciatic notch, Short palm,...	OMIM:312870
Incontinentia Pigmenti	Delayed eruption of teeth, Scarring, Conical tooth, Oligodontia, Hypodontia	OMIM:308300
Hutchinson-Gilford Progeria Syndrome	Short lingual frenulum, Dental crowding, Micrognathia, Osteoarthritis, Reduced bone mineral densi...	ORPHA:740
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Chronic hepatic failure, Hypocalcemia, Equinus calcaneus	ORPHA:746
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Joint stiffness, Flexion contracture, Reduced bone mineral density, Type I diabetes mellitus, Abn...	ORPHA:1979
Pseudo-Torch Syndrome 2	Hepatomegaly, Abnormal renal corticomedullary differentiation, Bradycardia, Cerebral hemorrhage	OMIM:617397
Williams-Beuren Syndrome	Hallux valgus, Osteopenia, Joint laxity, Inguinal hernia, Recurrent urinary tract infections, Dow...	OMIM:194050
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis	OMIM:239199
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Delayed eruption of teeth, Inguinal hernia, Broad 2nd toe, Cleft lip, Clinodactyly, Thick lower l...	OMIM:280000
Craniofacioskeletal Syndrome	Hypospadias, Patent ductus arteriosus, Small hand, Short foot, Hypocalcemia, Short palm, Clinodac...	OMIM:300712
Necrotizing Enterocolitis	Hyponatremia, Shock, Small for gestational age, Bradycardia, Hypotension	ORPHA:391673
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Dental crowding, Cleft upper lip, Aplasia/Hypoplasia of the phal...	OMIM:219000
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Doors Syndrome	Short lingual frenulum, Abnormal finger morphology, Downturned corners of mouth, Widely spaced te...	ORPHA:79500
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Broad hallux, Vesicoureteral reflux, Shortening of all distal phalanges of the fingers, Elevated ...	OMIM:614749
8Q24.3 Microdeletion Syndrome	Branchial cyst, Congenital hip dislocation, Cleft maxillary alveolar ridge, Finger clinodactyly, ...	ORPHA:508488
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Nephrocal...	OMIM:614473
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Hip contracture, Generalized lymphadenopathy, Ankle flexion contracture, Reduced bone mineral den...	OMIM:620232
Vici Syndrome	Recurrent respiratory infections, Everted upper lip vermilion, Median cleft lip, Cleft upper lip,...	OMIM:242840
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Say-Barber-Miller Syndrome	Craniosynostosis, Micrognathia, Carious teeth, Hip dislocation, Elbow flexion contracture, Patell...	ORPHA:3132
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Splenomegaly, Jaundice, Intrahepatic cholestasis, Elevated circula...	OMIM:235555
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Tetrasomy 9P	Recurrent urinary tract infections, Median cleft lip and palate, Dental crowding, Abnormal dental...	ORPHA:3310
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Inguinal hernia, Recurrent urinary tract infections, Cleft soft palate, Tapered fi...	ORPHA:268261
Ethylene Glycol Poisoning	Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfunction, ...	ORPHA:31826
Isolated Thyroid-Stimulating Hormone Deficiency	Failure to thrive, Delayed proximal femoral epiphyseal ossification, Umbilical hernia, Bradycardi...	ORPHA:90674
Pgm3-Cdg	Recurrent respiratory infections, Osteomyelitis, Recurrent viral infections, Recurrent pneumonia,...	ORPHA:443811
Hepatoerythropoietic Porphyria	Osteopenia, Recurrent bacterial skin infections, Erythrodontia, Scarring, Scarring alopecia of sc...	ORPHA:95159
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, 11 pairs of ribs, Severe B lymphocytopenia, Dela...	OMIM:620005
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia...	OMIM:194080
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact...	OMIM:210710
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Elevated circulating creatine kinase concentration, Sinus bradycardia, Second degree atrioventric...	OMIM:616812
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Short femur, Talipes equinovarus	OMIM:620306
Fraser Syndrome	Omphalocele, Finger syndactyly, Toe syndactyly, Dental crowding, Cleft upper lip, Dental malocclu...	ORPHA:2052
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Metaphyseal chondrodysplasia, Enlargement of the wrists, Large knee, Reduced bone mineral density	ORPHA:83629
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Xp21 Deletion Syndrome	Joint laxity, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine ...	ORPHA:261476
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula...	OMIM:605814
Greenberg Dysplasia	Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomel...	OMIM:215140
Proteus Syndrome	Hallux valgus, Finger syndactyly, Abnormal dental enamel morphology, Macrodactyly, Metatarsus val...	ORPHA:744
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Angulated humerus, Bowing of the long bones, Multiple rib fractures, Recurrent fractu...	OMIM:616229
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Tapered finger, Short toe, Abnormal renal morphology, Elevated circulating alkaline phosphatase c...	OMIM:239300
Williams Syndrome	Osteopenia, Micrognathia, Microdontia, Clinodactyly of the 5th finger, Spina bifida occulta, Join...	ORPHA:904
Alg9-Cdg	Omphalocele, Hepatomegaly, Hypoplasia of the bladder, Tricuspid regurgitation, Lipodystrophy, Ure...	ORPHA:79328
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Sinusitis, Recurrent viral infections, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Re...	OMIM:102700
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits...	ORPHA:449395
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Joint hypermobility, Genu valgum	OMIM:617798
Senior-Boichis Syndrome	Elevated hepatic transaminase, Thickening of the tubular basement membrane, Portal hypertension, ...	ORPHA:84081
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Intellectual Developmental Disorder, Autosomal Dominant 54	Dental crowding, Widely spaced teeth, Delayed eruption of primary teeth	OMIM:617799
Immunodeficiency 23	Recurrent respiratory infections, Recurrent staphylococcal infections, Severe varicella zoster in...	OMIM:615816
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Sepsis, Short philtrum, Joint contracture of the 5th finger, Prominent fingertip pads...	ORPHA:363611
Ficolin 3 Deficiency	Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre...	OMIM:613860
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ...	ORPHA:2235
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concen...	OMIM:610489
Whim Syndrome	Sinusitis, Severe periodontitis, Recurrent upper respiratory tract infections, Recurrent pneumoni...	ORPHA:51636
Catel-Manzke Syndrome	Joint laxity, Short humerus, Short metacarpal, Short femur, Micrognathia, Short toe, Genu valgum,...	OMIM:616145
Lujo Hemorrhagic Fever	Shock, Renal insufficiency, Stiff neck, Elevated circulating C-reactive protein concentration, My...	ORPHA:319213
Xq12-Q13.3 Duplication Syndrome	Decreased serum insulin-like growth factor 1, Elevated circulating creatine kinase concentration,...	ORPHA:314389
Aplasia Of Lacrimal And Salivary Glands	Carious teeth	OMIM:180920
Small Cell Carcinoma Of The Bladder	Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia	ORPHA:284400
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Scarring, Abnormality of the dentition, Carious teeth, A...	ORPHA:158668
Weill-Marchesani Syndrome 2	Short metacarpal, Joint stiffness, Broad metatarsal, Patent ductus arteriosus, Elbow flexion cont...	OMIM:608328
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis	OMIM:613779
Myeloproliferative Disease, Autosomal Recessive	Reduced leukocyte alkaline phosphatase, Myeloproliferative disorder	OMIM:254700
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Recurrent joint dislocation, Recurrent fractures, Joint hypermobility, Reduced bone mineral density	OMIM:619115
Acrocephalopolydactylous Dysplasia	Omphalocele, Hepatomegaly, Craniosynostosis, Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Boudin-Mortier Syndrome	Joint laxity, Mallet finger, Long toe, Arachnodactyly, Elevated alkaline phosphatase of bone orig...	OMIM:619543
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Recurrent fractures, Long fingers, Osteoporosis, Long ha...	OMIM:309583
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Coxa vara, Reduced bone mineral density, Tibial bowing, Iron deficiency anemia, Hypoplastic iliac...	ORPHA:93315
Tooth Agenesis, Selective, 4	Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ...	OMIM:150400
Restrictive Dermopathy	Osteopenia, Natal tooth, Multiple joint contractures, Camptodactyly of finger, Micrognathia, Subm...	ORPHA:1662
Cholestasis, Progressive Familial Intrahepatic, 8	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro...	OMIM:619662
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney	ORPHA:90301
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Diabetes mellitus, Increased circulating thyroglobulin level, Sagittal craniosynostos...	OMIM:610199
Igg4-Related Thyroid Disease	Nodular goiter, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Thyroidi...	ORPHA:64744
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy...	ORPHA:466650
Dyskeratosis Congenita, Autosomal Dominant 3	Urethral stricture, Pancytopenia, Aplastic anemia, Avascular necrosis of the capital femoral epip...	OMIM:613990
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Conical tooth, Prominent interphalangeal joints, Short philtrum,...	OMIM:135900
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ...	OMIM:601495
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Partial development of the penile shaft, Bradycardia	OMIM:608800
Phakomatosis Pigmentovascularis	Reduced bone mineral density	ORPHA:2875
Pelvis-Shoulder Dysplasia	Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Camptodactyly of...	ORPHA:2839
Floating-Harbor Syndrome	Short middle phalanx of the 2nd finger, Downturned corners of mouth, Short philtrum, Clinodactyly...	OMIM:136140
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Hydronephrosis, Enlarged kidney	OMIM:314390
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Recurrent mycobacterial infections, Clubbing, Recurrent otiti...	ORPHA:244
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Neonatal sepsis, Recurrent respiratory infections, Inguinal hernia, Recurrent urinary tract infec...	OMIM:612541
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, ...	ORPHA:508
Congenital Disorder Of Glycosylation, Type Im	Failure to thrive, Dilated cardiomyopathy, Bradycardia, Increased circulating free fatty acid level	OMIM:610768
Pallister-Killian Syndrome	Tented upper lip vermilion, Congenital hip dislocation, Congenital diaphragmatic hernia, Microgna...	OMIM:601803
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Elevated ...	OMIM:619484
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Alveolar ridge overgrowth, Corneal scarring, Painless fractures due to ...	ORPHA:642
Glycosylphosphatidylinositol Biosynthesis Defect 25	Low alkaline phosphatase, Ankle flexion contracture	OMIM:619985
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Primary hyp...	OMIM:145981
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Omphalocele, Recurrent respiratory infections, Inguinal hernia, Abnormal pelvis bone morphology, ...	ORPHA:2273
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Broad femoral neck, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull...	OMIM:619727
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Neoplasm of the thyroid gland, Recurrent fractures, Reduced bone mineral density	ORPHA:137608
Leukocyte Adhesion Deficiency, Type Iii	Recurrent bacterial infections, Sepsis, Osteopetrosis	OMIM:612840
Hyperparathyroidism 1	Primary hyperparathyroidism, Hypercalcemia	OMIM:145000
Odontoonychodermal Dysplasia	Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary...	OMIM:257980
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Renal insufficiency, Hyper...	ORPHA:95409
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Portal hypertension, Splenomegaly, Ureteral atresia, Stage 5 c...	OMIM:208540
Leukocyte Adhesion Deficiency	Recurrent urinary tract infections, Sinusitis, Severe periodontitis, Osteomyelitis, Recurrent sta...	ORPHA:2968
Acute Panmyelosis With Myelofibrosis	Myelofibrosis, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,...	ORPHA:86843
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti...	ORPHA:289548
Combined Oxidative Phosphorylation Defect Type 39	Bradycardia, Congenital foot contractures	ORPHA:565624
Ogden Syndrome	Global glomerulosclerosis, Inguinal hernia, Cardiomegaly, Ventricular tachycardia, Premature vent...	OMIM:300855
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Splenomegaly, Elevated circulating alkaline phosphatase concentrat...	OMIM:613489
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Micrognathia, High, narrow palate, Abnormal finger m...	ORPHA:3472
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thin upper lip vermilion, Natal tooth, Recurrent respiratory infections, Broad ha...	OMIM:620186
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Reduced bone minera...	ORPHA:168558
Cystic Fibrosis	Osteopenia, Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurr...	ORPHA:586
Immunodeficiency With Hyper-Igm, Type 2	Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre...	OMIM:605258
Spondyloocular Syndrome	Osteopenia, Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Long fingers, Thin bony co...	OMIM:605822
Lysosomal Acid Lipase Deficiency	Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia...	ORPHA:275761
Cd8 Deficiency, Familial	Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections	OMIM:608957
Meckel Syndrome, Type 1	Omphalocele, Thin upper lip vermilion, Natal tooth, Bowing of the long bones, Syndactyly, Camptod...	OMIM:249000
Charge Syndrome	Delayed eruption of teeth, Cleft upper lip, Abnormal soft palate morphology, Abnormal tibia morph...	ORPHA:138
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Proteinuria, Avascular necrosis of the capital femoral epiphysis, Elevated cir...	ORPHA:247691
Dyskeratosis Congenita, Autosomal Dominant 2	Urethral stricture, Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Bone marrow hypocell...	OMIM:613989
Marshall-Smith Syndrome	Bowing of the long bones, Craniosynostosis, Increased susceptibility to fractures, Reduced bone m...	ORPHA:561
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ...	OMIM:613500
Floating-Harbor Syndrome	Short metacarpal, Brachydactyly, Persistence of primary teeth, Hypoplasia of the maxilla, Carious...	ORPHA:2044
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Congenital hip dislocation, Micrognathia, Patellar ap...	OMIM:606170
Beckwith-Wiedemann Syndrome	Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, V...	ORPHA:116
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Parathyroid agenesis, Decreased circulating parathyroid hor...	OMIM:188400
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Bradycardia	ORPHA:40366
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevat...	ORPHA:276621
Bile Acid Synthesis Defect, Congenital, 3	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrahepatic cholest...	OMIM:613812
Cholestasis, Progressive Familial Intrahepatic, 2	Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Ele...	OMIM:601847
Glucose-Galactose Malabsorption	Renal insufficiency, Hypercalcemia, Nephrolithiasis, Hematuria, Hypernatremia	ORPHA:35710
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Downturned corners of mouth, Genu varum, Long toe, Absence of ...	OMIM:264090
Kindler Syndrome	Carious teeth, Periodontitis, Oral leukoplakia, Gingivitis	OMIM:173650
Sarcoidosis	Increased T cell count, Nephrocalcinosis, Leukopenia, Tubulointerstitial nephritis, Hypothyroidis...	ORPHA:797
Fanconi Anemia, Complementation Group R	Radial dysplasia, Absent thumb, Bone marrow hypocellularity, Pelvic kidney, Anemia	OMIM:617244
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Gastrointestinal hemorrhage, Renal insufficiency, Recurrent urinary tract infection...	ORPHA:731
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Limited hip extension, Flexion contracture, Retinal hemorrhage, Corneal scarring, Hy...	OMIM:614653
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Hemihyperplasia-Multiple Lipomatosis Syndrome	Lipoatrophy, Telangiectasia of the skin, Multiple lipomas, Nephroblastoma, Enlarged kidney	ORPHA:276280
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Recurrent bacterial infections, Recurrent lower respiratory tract infecti...	OMIM:613501
Multiple Endocrine Neoplasia Type 2	Joint laxity, Paraganglioma of head and neck, Elevated urinary catecholamine level, Hypercalcemia...	ORPHA:653
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevat...	ORPHA:29072
Parathyroid Carcinoma	Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia	OMIM:608266
Sheehan Syndrome	Hyponatremia, Orthostatic hypotension, Obesity, Hyposthenuria, Palpitations, Bradycardia	ORPHA:91355
Al-Gazali Syndrome	Osteopenia, Proximal radio-ulnar synostosis, Bowed humerus, Recurrent fractures, Broad distal pha...	OMIM:609465
Al Amyloidosis	Renal insufficiency, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnormal...	ORPHA:85443
Trichohepatoneurodevelopmental Syndrome	Joint laxity, Overlapping toe, Splenomegaly, Patent ductus arteriosus, Hip dislocation, Short foo...	OMIM:618268
Isotretinoin-Like Syndrome	Patent ductus arteriosus, Lymphopenia, Hypocalcemia	ORPHA:2306
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Tachycardia, Recurrent myoglobinuria, Elevated circulating creatine kinase concentrat...	ORPHA:368
Marburg Hemorrhagic Fever	Shock, Tachycardia, Pericarditis, Renal insufficiency, Elevated circulating creatine kinase conce...	ORPHA:99826
Primary Sclerosing Cholangitis	Osteopenia, Acute hepatic failure, Elevated hepatic transaminase, Abnormal eosinophil morphology,...	ORPHA:171
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Small hand, Abnormal rib morphology, Short foot, Micropenis, Spina bifida occulta, Th...	ORPHA:488434
Immunodeficiency 35	Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections...	OMIM:611521
Glossopharyngeal Neuralgia	Syncope, Jaw claudication, Bradycardia, Weight loss	ORPHA:221098
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Abnormal lef...	ORPHA:99827
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Portal hypertension, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia	OMIM:620365
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Reduced bone mineral density, Ureterocele, Vesicoureteral reflux...	ORPHA:2911
Encephalitis Lethargica	Urinary incontinence, Stiff neck, Bradycardia	ORPHA:83600
Chediak-Higashi Syndrome	Recurrent bacterial skin infections, Recurrent systemic pyogenic infections, Gingivitis, Recurren...	OMIM:214500
Proximal Spinal Muscular Atrophy	Multiple joint contractures, Flexion contracture, Elbow flexion contracture, Knee flexion contrac...	ORPHA:70
Cornelia De Lange Syndrome	Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, Downturned corners of...	ORPHA:199
Oculocerebral Hypopigmentation Syndrome, Preus Type	Arachnodactyly, Abnormality of neutrophils, Reduced bone mineral density, Abnormal hip bone morph...	ORPHA:2720
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciur...	OMIM:145980
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Knee dislocation, Hypoa...	OMIM:619534
Chédiak-Higashi Syndrome	Recurrent bacterial skin infections, Recurrent respiratory infections, Recurrent staphylococcal i...	ORPHA:167
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t...	OMIM:276820
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bowing of the long bones, Metaphyseal sclerosis, Thrombocytopenia, Osteoporosis, Incr...	OMIM:612199
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical ...	OMIM:130650
Immunodeficiency With Hyper-Igm, Type 4	Recurrent bacterial infections, Osteomyelitis, Recurrent infection of the gastrointestinal tract,...	OMIM:608184
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Increased circulating lactate dehydrogenase concentrat...	ORPHA:86841
Caroli Disease	Liver abscess, Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, In...	ORPHA:53035
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid...	ORPHA:319552
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Absent thumb, Short thumb, Hypothyroidism,...	OMIM:609053
Bent Bone Dysplasia Syndrome 2	Osteopenia, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowing, Thin ribs, Decreased calvar...	OMIM:620076
Microphthalmia, Syndromic 1	Syndactyly, Dental crowding, Down-sloping shoulders, Cleft upper lip, High, narrow palate, Clinod...	OMIM:309800
Charge Syndrome	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hand monodactyly,...	OMIM:214800
Cholestasis, Benign Recurrent Intrahepatic, 2	Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline ...	OMIM:605479
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Splenomegaly, Low alkaline phosphatase, Decreased serum zinc, Hypogonadism, Decreased serum testo...	OMIM:201100
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Micrognathia, Abnormal tibia morphology, Bone cyst, Genu valgum, Abnormality of the sp...	ORPHA:363700
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections	OMIM:233670
Yellow Fever	Shock, Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Supravent...	ORPHA:99829
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Downturned corners of mouth, Short philtrum, Premature loss of teeth, Loss of facial ...	ORPHA:3455
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Anemia of inadequate production, Absent thumb, Unilateral radial aplasia,...	OMIM:614900
Whim Syndrome 1	Recurrent bacterial infections, Recurrent upper respiratory tract infections	OMIM:193670
Developmental And Epileptic Encephalopathy 95	Joint laxity, Short fourth metatarsal, Multiple joint contractures, Brachydactyly, Low alkaline p...	OMIM:618143
Microphthalmia With Linear Skin Defects Syndrome	Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Micrognathia, Mandibular apla...	ORPHA:2556
Peripartum Cardiomyopathy	Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card...	ORPHA:563
Isolated Biliary Atresia	Elevated hepatic transaminase, Dark yellow urine, Conjugated hyperbilirubinemia, Splenomegaly, Ja...	ORPHA:30391
Amyotrophic Lateral Sclerosis 20	Elevated circulating alkaline phosphatase concentration	OMIM:615426
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of inadequate pro...	ORPHA:75564
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Elevated circulating alkaline phosphatase concentration, Shortening of all distal phalanges of th...	OMIM:615716
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Inc...	OMIM:241200
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Osteopenia, Micrognathia, Deep philtrum, Clinodactyly of the 5th finger, P...	OMIM:150230
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Polydactyly, Flexion contracture	ORPHA:17
Bohring-Opitz Syndrome	Cardiomegaly, Limitation of joint mobility, Bilateral wrist flexion contracture, Fixed elbow flex...	ORPHA:97297
Immunodeficiency With Hyper-Igm, Type 5	Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections	OMIM:608106
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Elevated hepatic transaminase, Portal hypertension, Increased circulating ferritin concentration,...	ORPHA:210136
Johanson-Blizzard Syndrome	Joint laxity, Diabetes mellitus, Hypospadias, Elevated circulating aspartate aminotransferase con...	OMIM:243800
Pheochromocytoma--Islet Cell Tumor Syndrome	Pheochromocytoma, Hypercalcemia, Elevated urinary norepinephrine level, Proteinuria	OMIM:171420
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Tibial bowing, Hypoplasia of first ribs, Broad ribs, Micropenis,...	OMIM:269150
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
Caroli Syndrome	Elevated hepatic transaminase, Liver abscess, Abnormality of the kidney, Portal hypertension, Hyp...	ORPHA:480520
Heterotaxy, Visceral, 1, X-Linked	Omphalocele, Hepatomegaly, Block vertebrae, Renal agenesis, Cardiomegaly, Horseshoe kidney, Pulmo...	OMIM:306955
X Small Rings	Joint laxity, Toe syndactyly, Tapered finger, Fetal pyelectasis, Osteoporosis, 2-3 toe syndactyly...	ORPHA:96201
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Hyperparathyroidism, Hypercalcemia, Pituitary null cell adenoma...	ORPHA:913
Alkaptonuria	Joint dislocation, Joint stiffness, Cartilage destruction, Osteoarthritis, Nephrolithiasis, Reduc...	ORPHA:56
Proteasome-Associated Autoinflammatory Syndrome 2	Lipodystrophy, Recurrent viral infections, Recurrent bacterial infections, Clinodactyly, Brachyda...	OMIM:618048
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Prima...	ORPHA:227990
Glycosylphosphatidylinositol Biosynthesis Defect 11	Elevated circulating alkaline phosphatase concentration	OMIM:616025
Immunodeficiency 84	Recurrent bacterial infections, Persistent EBV viremia	OMIM:619437
Pallister-Hall Syndrome	Bifid uvula, Microretrognathia, Mesoaxial polydactyly, Radial bowing, Accessory oral frenulum, Cl...	ORPHA:672
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Inguinal hernia, Large for gestational age, Camp...	ORPHA:500095
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, 4-hydroxyphenylacetic aciduria, Conjugated hyper...	OMIM:617156
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Aut...	ORPHA:227982
Vipoma	Diabetes mellitus, Hypercalcemia, Follicular thyroid carcinoma, Elevated circulating growth hormo...	ORPHA:97282
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration,...	ORPHA:69665
Mirage Syndrome	Recurrent urinary tract infections, Rocker bottom foot, Radial club hand, Sepsis, Recurrent bacte...	OMIM:617053
Velocardiofacial Syndrome	Hypoparathyroidism, Hypocalcemia	OMIM:192430
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Overweight, Delayed proximal femoral epiphyseal ossification, Bradycardia, Umbilical hernia, Abno...	ORPHA:226307
Immunodeficiency 27B	Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio...	OMIM:615978
Monosomy 13Q34	Hypercalcemia, Postaxial hand polydactyly, Fetal pyelectasis, Postaxial foot polydactyly, Osteoch...	ORPHA:96168
Immunodeficiency With Hyper-Igm, Type 3	Recurrent bacterial infections	OMIM:606843
Combined Oxidative Phosphorylation Deficiency 39	Flexion contracture, Sinus bradycardia, Congenital contracture, Arthrogryposis multiplex congenit...	OMIM:618397
Legionnaires Disease	Hyponatremia, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Hepatitis, Lymphadenopath...	ORPHA:549
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial skin infections, Recurrent herpes, Severe recurrent varicella, Recurrent oppo...	ORPHA:276
Bare Lymphocyte Syndrome, Type Ii	Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R...	OMIM:209920
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, ...	ORPHA:567983
Cernunnos-Xlf Deficiency	Recurrent bacterial infections, Recurrent viral infections	ORPHA:169079
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Lung abscess, Leukocytosis, Elevated circulating al...	ORPHA:67
Griscelli Syndrome	Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leukopenia, Bone ...	ORPHA:381
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Leukocytosis, Abnormal lactate dehydrogenase level, Bone marrow hypocellu...	ORPHA:98827
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Duplicated collecting system, Hip contracture, Bilateral fetal pyelectasis, Patent ductus arterio...	OMIM:300868
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Tapered finger	OMIM:618367
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Tachycardia, Palpitations, Weight loss	OMIM:188580
Multiple Endocrine Neoplasia, Type I	Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, ...	OMIM:131100
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Chronic noninfect...	ORPHA:100085
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Recurrent bacterial infections	OMIM:610738
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Reduced bone mineral density, Long fibula, Abnormal metaphysis morphology, Lymphopenia, Anemia	ORPHA:935
Mowat-Wilson Syndrome	Delayed eruption of teeth, Submucous cleft hard palate, Cleft palate, Widely spaced teeth, Recurr...	OMIM:235730
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Joint laxity, Sandal gap, Long fingers, Cutaneous syndactyly, Hypocalcemia, Toe clinodactyly, Hyd...	OMIM:620330
Fabry Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hyperlipidemia, Abnormal femur morphology, Redu...	ORPHA:324
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Duplication of thumb phalanx, Short thumb, Anemia, Bone mar...	OMIM:616435
Acute Erythroid Leukemia	Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia	ORPHA:318
Somatostatinoma	Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone concentration, Abnormality ...	ORPHA:97283
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1...	ORPHA:77293
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Fanconi Anemia, Complementation Group V	Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari...	OMIM:617243
Meacham Syndrome	Enlarged kidney, Aplasia of the left hemidiaphragm, Aplasia of the right hemidiaphragm, Horseshoe...	OMIM:608978
Developmental And Epileptic Encephalopathy 80	Increased urine alpha-ketoglutarate concentration, Tapered finger, Elevated circulating alkaline ...	OMIM:618580
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Patent ductus arteriosus, Reduce...	ORPHA:1556
Amed Syndrome, Digenic	Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytopenia, Leukopenia, Bone marrow hypocellula...	OMIM:619151
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Nephrocalcinosis, 3-Methylglutaco...	ORPHA:445038
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont...	ORPHA:261537
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Renal agenesis, Absen...	OMIM:227645
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity	OMIM:616871
Immunodeficiency, Common Variable, 13	Recurrent bacterial infections	OMIM:616873
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Pancytopenia, Renal artery aneurysm, Elevated circulating C-reacti...	OMIM:615688
Cardiac-Urogenital Syndrome	Tachycardia, Congenital diaphragmatic hernia, Enlarged kidney, Patent urachus, Tracheomalacia, Mi...	OMIM:618280
Hypothyroidism, Congenital, Nongoitrous, 2	Umbilical hernia, Increased circulating thyroglobulin level, Bradycardia, Hyperbilirubinemia	OMIM:218700
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Hepatomegaly, Failure to thrive, Right ventricula...	ORPHA:1329
Ppoma	Hypercalcemia, Elevated circulating growth hormone concentration, Abnormality of the thyroid glan...	ORPHA:97278
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Hyperphosphatasia-Intellectual Disability Syndrome	Shortening of all distal phalanges of the fingers, Hip dysplasia, Elevated circulating alkaline p...	ORPHA:247262
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Abnormal Hair, Joint Laxity, And Developmental Delay	Mitral regurgitation, Tricuspid regurgitation, Joint hypermobility, Sinus bradycardia	OMIM:261990
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypergonadotropic hypogonadism, Hypospadias, Elevated circulating luteinizing hormone level, Abse...	ORPHA:90796
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Recurrent bacterial infections	OMIM:202700
Glucagonoma	Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone concentration, Acanthocytos...	ORPHA:97280
Immunodeficiency 87 And Autoimmunity	Recurrent viral infections, Sepsis, Cleft palate, Persistent EBV viremia, Severe cytomegalovirus ...	OMIM:619573
Grfoma	Hypercalcemia, Elevated circulating growth hormone concentration, Neoplasm of the thymus, Abnorma...	ORPHA:97261
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Absent thumb, Short thumb, Thrombocytopeni...	OMIM:603467
Atypical Werner Syndrome	Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Finger clinodacty...	ORPHA:79474
Isovaleric Acidemia	Pancytopenia, Hyperglycinuria, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:243500
Pheochromocytoma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Pheochromocytoma, Renal artery...	OMIM:171300
Complement Factor B Deficiency	Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Fanconi Anemia, Complementation Group D2	Ectopic kidney, Aplasia of the 1st metacarpal, Reticulocytopenia, Neutropenia, Micropenis, Pelvic...	OMIM:227646
Autoimmune Lymphoproliferative Syndrome	Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD...	ORPHA:3261
Sotos Syndrome	Ureteral duplication, Flexion contracture, Vesicoureteral reflux, Hypothyroidism, Joint laxity, H...	ORPHA:821
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia	OMIM:126320
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Recurrent viral infections, Severe varicella zoster infection, ...	OMIM:606367
Hypocomplementemic Urticarial Vasculitis	Arthritis, Meningitis, Recurrent bacterial infections	ORPHA:36412
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont...	ORPHA:261552
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leukemia, Bone marr...	ORPHA:3226
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, C...	ORPHA:137675
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Vesicoureteral reflux, Wide anterior fontanel, Elevated circulating alkaline phosphatase concentr...	OMIM:618548
Mirizzi Syndrome	Elevated hepatic transaminase, Dark urine, Jaundice, Elevated circulating alkaline phosphatase co...	ORPHA:521219
3-Methylglutaconic Aciduria, Type Viii	Failure to thrive, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Bradycardia	OMIM:617248
Idiopathic Bronchiectasis	Recurrent lower respiratory tract infections, Clubbing, Recurrent Haemophilus influenzae infections	ORPHA:60033
Cutis Laxa, Autosomal Recessive, Type Ib	Inguinal hernia, Congenital diaphragmatic hernia, Bradycardia, Pulmonary insufficiency, Joint hyp...	OMIM:614437
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat...	OMIM:134780
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly, Ketonuria, Anemia, Aminoaciduria, Bone marrow hypocellularity, Neutropenia, Thrombocy...	OMIM:614520
Fanconi Anemia, Complementation Group D1	Acute myeloid leukemia, Short thumb, T-cell acute lymphoblastic leukemias, Bone marrow hypocellul...	OMIM:605724
Reynolds Syndrome	Calcinosis, Elevated hepatic transaminase, Splenomegaly, Jaundice, Elevated circulating alkaline ...	OMIM:613471
Bone Marrow Failure Syndrome 4	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:618116
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Leukemia, Myeloid leukemia	OMIM:614743
Bone Marrow Failure Syndrome 1	Pancytopenia, Aplastic anemia, Bone marrow hypocellularity	OMIM:614675
Neutropenia, Severe Congenital, X-Linked	Recurrent bacterial infections	OMIM:300299
X-Linked Severe Congenital Neutropenia	Recurrent bacterial infections	ORPHA:86788
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Granuloma...	ORPHA:562639
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Recurrent upper respiratory tract infections, Persistent EBV viremia, Rec...	OMIM:616005
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections, Recurren...	ORPHA:331206
Immunodeficiency 21	Osteomyelitis, Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Rec...	OMIM:614172
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Hypospadias, Phimosis, Thrombocytopenia, Urethral stenosis,...	OMIM:305000
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Elevated circulating alkaline phosphatase concentration, Shortening of all distal phalanges of th...	OMIM:614207
Gallbladder Disease 1	Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration	OMIM:600803
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated hepatic transaminase, Lacticaciduria, Tubulointerstitial nephritis, El...	OMIM:124000
Aplastic Anemia	Aplastic anemia, Bone marrow hypocellularity	OMIM:609135
Fanconi Anemia, Complementation Group J	Short thumb, Bone marrow hypocellularity	OMIM:609054
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S...	OMIM:233710
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S...	OMIM:233690
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
17Q11 Microdeletion Syndrome	Osteopenia, Bowing of the legs, Precocious puberty, Osteoporosis, Osteolysis, Renovascular hypert...	ORPHA:97685
Granulomatous Disease, Chronic, X-Linked	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S...	OMIM:306400
Postinfectious Vasculitis	Persistent human papillomavirus infection, Severe varicella zoster infection, Invasive fungal inf...	ORPHA:48435
Omenn Syndrome	Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections	OMIM:603554
Complement Component 5 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:609536
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c...	OMIM:619767
Idiopathic Aplastic Anemia	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia	ORPHA:88
Immunodeficiency 47	Recurrent bacterial infections, Joint hypermobility, Recurrent infections	OMIM:300972
Agammaglobulinemia 9, Autosomal Recessive	Recurrent bacterial infections	OMIM:619693
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Recurrent bacterial infections	OMIM:615895
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Testicular atrophy, Bone marrow hypocellularity, Thrombocytopenia	OMIM:613987
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Urinary incontinence, Sinus bradycardia	OMIM:619482
Immunodeficiency 67	Recurrent streptococcal infections, Recurrent staphylococcal infections	OMIM:607676
Leukemia, Chronic Myeloid	Reduced leukocyte alkaline phosphatase, Ph-positive acute lymphoblastic leukemia, Chronic myeloge...	OMIM:608232
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Multicystic kidney dysplasia, Missing ri...	ORPHA:2308
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity	OMIM:620133
Dyskeratosis Congenita, Autosomal Recessive 5	Leukopenia, Bone marrow hypocellularity	OMIM:615190
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Intermittent jaundice, Elevated gamma-glutamyltransferase ...	ORPHA:100086
Dyskeratosis Congenita, Autosomal Dominant 6	Pancytopenia, Aplastic anemia, Bone marrow hypocellularity	OMIM:616553
Dyskeratosis Congenita, Autosomal Recessive 3	Pancytopenia, Bone marrow hypocellularity	OMIM:613988
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Absent thumb, Absent radius, Renal hypoplasia, Bone marrow hypocellula...	OMIM:614083
Sickle Cell Disease	Recurrent bacterial infections	OMIM:603903
Atrial Septal Defect, Coronary Sinus Type	Recurrent bacterial infections	ORPHA:99104
Atrial Septal Defect, Ostium Secundum Type	Recurrent bacterial infections	ORPHA:99103

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.

Phenotype	Allele	Zygosity	Life Stage
Knee joint - MPATH pathological process term inflammation	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult
Femur - MPATH pathological process term hyperplasia	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult
Femur - MPATH pathological process term sclerosis	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult
Femur - MPATH pathological process term dysplasia	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult
Knee joint - MPATH pathological process term sclerosis	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult

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 Dmp1.

No publications found that use IMPC mice or data for Dmp1.

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MGI Allele	Allele Type	Produced
Dmp1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Dmp1^{tm1.1(KOMP)Vlcg}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice, Tissue
Dmp1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Dmp1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, 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: Dmp1 MGI:94910

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Adult LacZ

Histopathology

Human diseases caused by Dmp1 mutations

Histopathology

IMPC related publications

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