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Gene: Tnfrsf11a MGI:1314891

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

tumor necrosis factor receptor superfamily, member 11a, NFKB activator

Synonyms:

TRANCE-R, Rank

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tnfrsf11a 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 Tnfrsf11a (5 diseases)
Human diseases predicted to be associated with Tnfrsf11a (2136 diseases)

The table below shows human diseases associated to Tnfrsf11a by orthology or direct annotation.

Disease	Matching phenotypes	Source
Familial Expansile Osteolysis	Bowing of the long bones, Osteolysis, Pathologic fracture, Premature loss of teeth, Thin bony cor...	OMIM:174810
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Hepatomegaly, Femur fracture, Splenomegaly, Osteopetrosis, A...	OMIM:612301
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Abnormal de...	ORPHA:1782
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Increased suscept...	OMIM:602080
Juvenile Paget Disease	Bowing of the long bones, Recurrent fractures, Abnormality of the dentition, Cranial hyperostosis...	ORPHA:2801

The table below shows human diseases predicted to be associated to Tnfrsf11a by phenotypic similarity.

Disease	Matching phenotypes	Source
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Osteosclerotic Metaphyseal Dysplasia	Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclero...	OMIM:615198
Osteopetrosis, Autosomal Recessive 6	Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero...	OMIM:611497
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Mandibular pain, Abnormal pelvic girdle bone morphology, Osteopetrosi...	OMIM:607634
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Buschke-Ollendorff Syndrome	Osteopoikilosis, Flexion contracture, Joint stiffness	OMIM:166700
Tricho-Dento-Osseous Syndrome	Increased bone mineral density, Dental enamel pits, Periapical tooth abscess, Enamel hypominerali...	ORPHA:3352
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone...	ORPHA:1879
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fract...	OMIM:259710
Dentin Dysplasia	Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density	OMIM:602475
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn...	ORPHA:1802
Eiken Syndrome	Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b...	ORPHA:79106
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenome...	OMIM:612840
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Hyperostosis Corticalis Generalisata	Mandibular prognathia, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone m...	ORPHA:3416
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Increased bone mineral density, Hepatomegaly, Recurrent fractures, Splenomegaly,...	OMIM:611490
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty...	ORPHA:3152
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Osteopetrosis, Autosomal Recessive 1	Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Femur fra...	OMIM:259700
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia	OMIM:183300
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia	OMIM:615085
Melorheostosis	Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in...	ORPHA:2485
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition	OMIM:125440
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Torus palatinus, Cl...	ORPHA:2790
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye...	OMIM:600785
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Gnathodiaphyseal Dysplasia	Osteopenia, Broad jaw, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, T...	ORPHA:53697
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis	ORPHA:1522
Pyle Disease	Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t...	OMIM:265900
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Tibiofibular diastasis...	ORPHA:566943
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Isolated Osteopoikilosis	Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m...	ORPHA:166119
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Limb undergrowth, Ab...	ORPHA:2204
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis	ORPHA:178377
Ribbing Disease	Diaphyseal sclerosis	OMIM:601477
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Obesity	OMIM:618406
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Re...	ORPHA:210110
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Osteoglosphonic Dysplasia	Anteverted nares, Choanal atresia, Craniosynostosis, Micrognathia, Abnormal form of the vertebral...	ORPHA:2645
Immunodeficiency 13	Lymphopenia, Nasal polyposis, Recurrent upper respiratory tract infections, T lymphocytopenia, B ...	OMIM:615518
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, He...	OMIM:259730
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Osteopenia And Sparse Hair	Osteopenia, Joint laxity	OMIM:259690
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in...	ORPHA:75508
Mazabraud Syndrome	Fibrous dysplasia of the bones, Recurrent fractures	ORPHA:57782
Flynn-Aird Syndrome	Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s...	OMIM:136300
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Increased bone mineral density, Micrognathia, Facial hyperostosis, Hig...	ORPHA:2780
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti...	ORPHA:2501
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o...	OMIM:600002
Familial Expansile Osteolysis	Bowing of the long bones, Osteolysis, Pathologic fracture, Premature loss of teeth, Thin bony cor...	OMIM:174810
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia	ORPHA:46532
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac...	ORPHA:90650
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture, Anemia	OMIM:620366
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr...	ORPHA:166277
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Microgn...	OMIM:259720
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Generalized hirsuti...	ORPHA:2222
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal ...	OMIM:144750
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Short long bone, Flared elbow...	ORPHA:1423
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy...	OMIM:231095
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Schnitzler Syndrome	Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthri...	ORPHA:37748
Peroxisome Biogenesis Disorder 10A (Zellweger)	Hepatomegaly, Micrognathia, Prominent nose, Epiphyseal stippling, High palate	OMIM:614882
Hereditary Sensory And Autonomic Neuropathy Type 2	Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal epiphysis...	ORPHA:970
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav...	ORPHA:2769
Brachyolmia Type 1, Hobaek Type	Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph...	OMIM:271530
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Clinodactyly of the 5th finger, Increased bone mineral density, Osteopetrosis, Micrognathia	OMIM:617306
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,...	ORPHA:231222
Spermatogenic Failure 81	Male infertility, Multiple non-erupting secondary teeth, Acrosomal hypoplasia, Oligozoospermia, R...	OMIM:620277
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M...	ORPHA:2972
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Extramedullary hematopoiesis, Hypoplastic ischia, Bowing of the legs, Mi...	ORPHA:313855
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Narrow mouth, Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelvi...	ORPHA:2370
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Delayed ossification of ...	OMIM:617974
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Short neck, Micrognathia, Downturned corners of mouth, Thoracic kyphosis, High palate, Abnormal b...	ORPHA:163649
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615269
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Thin upper lip vermilion, Short metacarpal, Dental crowding, Avascular necrosis of th...	OMIM:190351
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Osteoglophonic Dysplasia	Mandibular prognathia, Osteopenia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,...	OMIM:166250
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ...	OMIM:619795
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint...	ORPHA:93284
Beta-Thalassemia Major	Extramedullary hematopoiesis, Malar prominence, Hepatic fibrosis, Hyperplasia of the maxilla, Hep...	ORPHA:231214
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Hepatic fibrosis, Hyperplasia of th...	ORPHA:231226
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Craniofacial hyperostosis, Depressed nasal bridge, Cortical sclerosis, Cra...	OMIM:122860
Pycnodysostosis	Increased bone mineral density, Aplastic clavicle, Prominent nose, Micrognathia, Absent frontal s...	OMIM:265800
Caffey Disease	Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon...	OMIM:114000
Desmosterolosis	Increased bone mineral density, Depressed nasal bridge, Micromelia, Micrognathia, Metatarsus addu...	ORPHA:35107
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Prominent nasal bridge, Osteoporosis, Cone-shaped epiphysis, Platyspon...	ORPHA:71267
Pycnodysostosis	Obtuse angle of mandible, Prominent nose, Micrognathia, Generalized osteosclerosis, Hypoplasia of...	ORPHA:763
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Osteopetrosis, Hepatomegaly	OMIM:618541
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Joint stiffness, Cleft pal...	ORPHA:2635
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Abnormality of the dentition, ...	ORPHA:53
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Grant Syndrome	Bowing of the long bones, Micrognathia, Open bite, Joint hyperflexibility, Abnormal pelvic girdle...	ORPHA:2097
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Tented upper lip vermilion, Kyphosis, Increased skull ossification, Met...	OMIM:618476
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive	OMIM:600121
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Thin bony cortex, Coxa valg...	ORPHA:85184
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t...	ORPHA:2658
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ...	OMIM:600081
Trisomy 9P	Sacral dimple, Dental crowding, Short neck, Abnormal nasal morphology, Kyphosis, Non-midline clef...	ORPHA:236
Dysostosis, Stanescu Type	Short neck, Hypoplasia of the maxilla, Increased bone mineral density, Abnormal dental enamel mor...	ORPHA:1798
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Osteopenia, Dense metaphyseal bands, Small for gestational age, Slender long bones with narrow di...	ORPHA:50811
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Synophrys, Hirsutism, Gingival overgrowt...	ORPHA:2026
Ck Syndrome	Dental crowding, Micrognathia, Retrognathia, High palate, Malar flattening, Abnormal cortical bon...	OMIM:300831
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Hepatomegaly, Bowing of the long bones, Recurrent fractures, Premature...	ORPHA:667
Diastrophic Dysplasia	Bowing of the long bones, Increased bone mineral density, Depressed nasal bridge, Camptodactyly o...	ORPHA:628
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth, Hypoplastic nipples, Breast hypoplasia, Hypohidrosis	OMIM:129550
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Abnormal bo...	ORPHA:1952
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Hypercholanemia, Familial 1	Failure to thrive, Rickets	OMIM:607748
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Gaucher Disease Type 1	Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Hypersplenism, Kyphosis, ...	ORPHA:77259
Cranio-Osteoarthropathy	Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Clubbing of toes, Deviation of finger...	ORPHA:1525
Cleidocranial Dysplasia 2	Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Wid...	OMIM:620099
Hall-Riggs Syndrome	Metaphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Prominent nose, Kyphosis, Thick ...	OMIM:234250
Marbach-Rustad Progeroid Syndrome	Femur fracture, Delayed eruption of primary teeth, Micrognathia, Reduced bone mineral density, Er...	OMIM:619322
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth, Synostosis of car...	ORPHA:3238
Caffey Disease	Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios...	ORPHA:1310
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Hepatomegaly, Anteverted nares, Dental crowding, Kyphoscoliosis, Splen...	OMIM:616354
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormality of the dentition, Conical toot...	ORPHA:2228
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Synophrys, Gingiv...	ORPHA:2025
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk...	ORPHA:824
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate	OMIM:217150
Osseous Heteroplasia, Progressive	Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue	OMIM:166350
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Anemia	ORPHA:100024
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Small for gestational age, Reduced bone mineral density, Delayed ossification of carpal bones, Sh...	OMIM:618392
Chondrodysplasia, Blomstrand Type	Micromelia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Advanced ossifica...	OMIM:215045
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Hepatomegaly, Elevated circulating asp...	OMIM:614727
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:277440
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Hepatomegaly, Abnormal dental enamel morphology...	ORPHA:1133
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Hepatomegaly, Femur fracture, Splenomegaly, Osteopetrosis, A...	OMIM:612301
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis...	OMIM:612350
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay...	OMIM:300554
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Anemia, Lymphadenopathy	OMIM:312500
17Q21.31 Microduplication Syndrome	Toe syndactyly, Anteverted nares, Sandal gap, Micrognathia, Abnormality of the dentition, High pa...	ORPHA:217340
Congenital Amegakaryocytic Thrombocytopenia	Abnormal hemoglobin, Short neck, Thrombocytopenia, Abnormal form of the vertebral bodies, Scolios...	ORPHA:3319
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f...	OMIM:272460
Alpha-Mannosidosis	Mandibular prognathia, Craniofacial hyperostosis, Bowing of the long bones, Hepatomegaly, Depress...	ORPHA:61
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Camptodactyly of finger...	ORPHA:137834
Weismann-Netter Syndrome	Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Ho...	OMIM:112350
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Depressed nasal bridge, Recur...	OMIM:613849
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ...	ORPHA:337
Cherubism	Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl...	OMIM:118400
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Depressed nasal bridge, Ovoid vertebral bodies, Joint stiffness, Hyperl...	ORPHA:40
Winchester Syndrome	Kyphosis, Gingival overgrowth, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metaca...	OMIM:277950
Odontochondrodysplasia	Delayed eruption of teeth, Bowing of the long bones, Depressed nasal bridge, Coxa valga, Cone-sha...	ORPHA:166272
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:264700
Greenberg Dysplasia	Abnormal leukocyte morphology, Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathi...	ORPHA:1426
Diabetes Insipidus, Neurohypophyseal	Osteopenia, Wide nose, Short nose, Long philtrum	OMIM:125700
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Wide nose, Eosinophilia, Recurrent fractures, Persistence of primary teeth, Craniosyn...	OMIM:147060
Acromicric Dysplasia	Short metacarpal, Anteverted nares, Ovoid vertebral bodies, Joint stiffness, Narrow mouth, Bulbou...	ORPHA:969
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Wide dist...	OMIM:614856
Parastremmatic Dwarfism	Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis	OMIM:168400
Immunodeficiency 104	Hepatomegaly, Splenomegaly, Oral ulcer, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Malar flattening, Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb u...	OMIM:118651
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Thin upper lip vermilion, Anteverted nares, Short neck, Micrognathia, Cleft palate, Short nose, A...	ORPHA:2015
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Recurrent upper respira...	OMIM:617585
Osteoporosis	Osteoporosis	OMIM:166710
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic anemia, Splenomeg...	ORPHA:77297
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Tapered finger, Unilateral radial aplasia, Partial absence of thumb, Kyphosis, M...	ORPHA:476126
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus...	OMIM:166260
Mitochondrial Myopathy And Sideroblastic Anemia	Micrognathia, Kyphosis, High palate, Scoliosis, Long philtrum, Short nose, Anemia	ORPHA:2598
Neutropenia, Chronic Familial	Clubbing, Gingivitis, Clubbing of fingers, Periodontitis, Neutropenia, Premature loss of teeth	OMIM:162700
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib...	ORPHA:2751
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Micrognathia, Limitation of joint mobility, Slender long bone, Abnormal hip ...	ORPHA:1486
Gorham-Stout Disease	Osteopenia, Abnormality of the temporomandibular joint, Abnormal pelvis bone morphology, Osteomye...	ORPHA:73
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Abnormal de...	ORPHA:1782
Proteus Syndrome	Thin bony cortex, Depressed nasal bridge, Splenomegaly, Facial hyperostosis, Calvarial hyperostos...	OMIM:176920
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Recurrent fractures, Persistence of primary teeth, Micrognathia, Abno...	ORPHA:2785
Acrocephalopolydactyly	Short neck, Depressed nasal ridge, Hepatosplenomegaly, Short long bone, Short nose, Brachydactyly	ORPHA:221054
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ...	OMIM:241530
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra...	OMIM:146300
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow greater sciatic ...	OMIM:156530
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1248
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Hip osteoarthritis, Joint hyperflexibility, Hip dysplasia, Short middl...	ORPHA:63442
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Femoral bowing, Short 5th metacarpal, Short 4th metacarpal, Broad thumb, Thin bony co...	OMIM:619638
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Erlenmeyer flask deformity of the ...	OMIM:610539
Odontochondrodysplasia 1	Metaphyseal widening, Short phalanx of finger, Genu varum, Short metacarpal, Osteoporosis, Flat a...	OMIM:184260
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o...	OMIM:268305
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Everted upper lip vermilion, Hypohidrosis, Everted lower lip vermilion...	ORPHA:181
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Anteverted nares, Depres...	ORPHA:1458
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Vertebral clefting, Dental malocclusion, Short columella, Patchy distorti...	OMIM:155050
Lowry-Maclean Syndrome	Delayed eruption of teeth, Craniosynostosis, Cleft palate	OMIM:600252
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli...	OMIM:619126
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Anteverted nares, Thoracolumbar scolios...	OMIM:313420
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Rickets, Osteomalacia	OMIM:193100
Opsismodysplasia	Hepatomegaly, Abnormally ossified vertebrae, Depressed nasal bridge, Tapered finger, Joint stiffn...	ORPHA:2746
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Osteoarthritis, Short ...	OMIM:251450
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ...	OMIM:224300
Kimura Disease	Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp...	ORPHA:1452
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Ciliary Dyskinesia, Primary, 1	Nasal polyposis, Asplenia, Absent outer dynein arms, Absent frontal sinuses, Anosmia, Chronic rhi...	OMIM:244400
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia	ORPHA:3240
Tyrosinemia Type 1	Splenomegaly, Rickets of the lower limbs	ORPHA:882
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Micrognathia, Crowded maxillary incisors, Cryptorchidism, Narrow palate, Tooth agenesis, Multiple...	ORPHA:2063
Acrodysostosis	Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Depressed nasal ridge, Abnorm...	ORPHA:950
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi...	OMIM:307800
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Sparse scalp hair, Alopecia, Delayed eruption of teeth, Abnormal dental en...	ORPHA:2325
W Syndrome	Hypoplasia of the ulna, Radial bowing, Broad uvula, Metatarsus adductus, Submucous cleft hard pal...	ORPHA:2804
Short Stature, Dauber-Argente Type	Long toe, Osteopenia, Delayed eruption of teeth, Arachnodactyly, Decreased fibular diameter, Long...	OMIM:619489
Peutz-Jeghers Syndrome	Pancreatic adenocarcinoma, Neoplasm of the nose, Nasal polyposis, Abnormality of the nose, Biliar...	ORPHA:2869
Primary Ciliary Dyskinesia	Nasal polyposis, Asplenia, Clubbing, Nasal congestion, Polysplenia, Chronic rhinitis, Chronic sin...	ORPHA:244
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Patchy alopecia, Nail dystrophy, H...	OMIM:226650
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Micro...	ORPHA:2484
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Micrognathia, Bulbous nose, Deep philtrum, Wide nasal bridge, Thr...	ORPHA:1237
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short neck, Short metatarsal...	OMIM:612463
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair, Advanced eruption of teeth	ORPHA:2266
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center	OMIM:235550
Roifman Syndrome	Thin upper lip vermilion, Short metacarpal, Hip contracture, Hepatomegaly, Eosinophilia, Antevert...	OMIM:616651
Gapo Syndrome	Hepatomegaly, Anteverted nares, Depressed nasal bridge, Micrognathia, Wide anterior fontanel, Hig...	OMIM:230740
Intellectual Developmental Disorder, X-Linked 91	Macrodontia, Small hand, Short foot, Short 5th finger, High palate, Clinodactyly, Short nose	OMIM:300577
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone ...	ORPHA:289157
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, O...	ORPHA:289176
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Roifman Syndrome	Narrow nasal bridge, Thin upper lip vermilion, Hip contracture, Epiphyseal dysplasia, Eosinophili...	ORPHA:353298
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hepatomegaly, Recurrent fractures, Splenomegaly, Gingivitis, Premature loss of teeth,...	OMIM:618107
Rothmund-Thomson Syndrome	Osteopenia, Aplastic anemia, Selective tooth agenesis, Reduced bone mineral density, Neutropenia,...	ORPHA:2909
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Autosomal Recessive Primary Microcephaly	Thin upper lip vermilion, Abnormal cortical bone morphology	ORPHA:2512
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Hepatomegaly, Allergic rhinitis, Anemia of inadequate production, Carious teeth, Sple...	OMIM:612714
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho...	OMIM:301078
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow extension, Wide ...	OMIM:614078
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Hypocalcemic Vitamin D-Resistant Rickets	Recurrent fractures, Osteomalacia, Bone cyst, Genu varum, Osteolysis, Genu valgum, Abnormal hip b...	ORPHA:93160
Bent Bone Dysplasia Syndrome 1	Natal tooth, Bent long bone, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Hepatospl...	OMIM:614592
Craniometaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Dental crowding, Metaphyseal widening, Cranial hyperostosis, Flared metaph...	OMIM:123000
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Dent Disease 1	Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay...	OMIM:300009
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Mandibular prognathia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thorac...	OMIM:271510
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Metaphyseal dysplasia, Abnormal nasopharynx morphology, Flared metaphysis,...	OMIM:218400
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Patchy alopecia, Short ...	OMIM:141300
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, R...	OMIM:150550
Camurati-Engelmann Disease	Mandibular prognathia, Increased bone mineral density, Carious teeth, Diaphyseal sclerosis, Genu ...	OMIM:131300
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Cleidocranial Dysplasia 1	Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, High, narrow palate...	OMIM:119600
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Anteverted nares, Depressed nasal bridge, Increased intervertebral space, Thoracic...	OMIM:618961
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Short clavicles, Multiple impacted teeth, Type E brachydactyl...	OMIM:113300
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Joint hypermobility, Diastema, Agenesis of molar, Supernumerary tooth, Osteoporosis, ...	OMIM:619718
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Failure to thrive, Rickets	OMIM:602722
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr...	OMIM:239000
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Arthritis, B lymphocytopenia,...	ORPHA:397596
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Recurrent sinusitis, Absent circulating ...	OMIM:620282
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Micrognathia, A...	OMIM:617952
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, Irregular vertebral endplates, High palate, Amelogenesis imp...	OMIM:618363
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr...	OMIM:603552
Temple-Baraitser Syndrome	Tented upper lip vermilion, Triangular shaped distal phalanx of the thumb, High palate, Thick nas...	ORPHA:420561
Zimmermann-Laband Syndrome 3	Broad nasal tip, Aplasia of the distal phalanx of the 5th toe, Kyphosis, Flexion contracture, Thi...	OMIM:618658
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Sinusitis, Absence of lymph node germinal center, Recurrent upper respiratory tract infections, T...	ORPHA:277
Craniometadiaphyseal Dysplasia	Osteopenia, Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Coxa valga, Ca...	OMIM:269300
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenom...	OMIM:615631
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Abnormal metaphysis morphology, Recurrent fractures, Hepatomegaly	ORPHA:417
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Spastic Paraplegia 18B, Autosomal Recessive	Kyphosis, Joint contracture, High palate, Scoliosis	OMIM:611225
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Cutaneous finger syndactyly, High palate, Bifid...	OMIM:211380
Immunodeficiency 27A	Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymph...	OMIM:209950
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Limitation of joint mobility, Abnormal limb bone morphology,...	ORPHA:85435
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal i...	ORPHA:457395
Non-Distal Duplication 10Q	Depressed nasal bridge, Micrognathia, Joint hyperflexibility, High palate, Everted lower lip verm...	ORPHA:1695
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Glossoptos...	OMIM:614876
Rothmund-Thomson Syndrome Type 2	Osteopenia, Aplastic anemia, Patellar hypoplasia, High palate, Neutropenia, Microdontia, Short ph...	ORPHA:221016
Ramon Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Narrow palat...	ORPHA:3019
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Oral ulcer, Lymphadenopathy	OMIM:618852
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ...	OMIM:212050
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Abnormality of bone mineral density	ORPHA:1114
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Recurrent upper respiratory tract infections, Lymphadenopathy, Hepatosplenomegaly, ...	OMIM:613101
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Micrognathia, Osteoarthritis, Deep philtrum, Short metatarsal, Cone-shaped epiphyses ...	OMIM:190350
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone...	ORPHA:89936
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa...	OMIM:112250
Catifa Syndrome	Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Long philtrum, Tooth malp...	OMIM:618761
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume...	OMIM:611590
Hall-Riggs Syndrome	Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Joint stiffness, ...	ORPHA:2107
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick...	ORPHA:1328
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Anteverted nares, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, G...	OMIM:269920
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar...	ORPHA:93323
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Aplasia of the distal...	ORPHA:364577
Rothmund-Thomson Syndrome Type 1	Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Microdontia, Short phalanx of fing...	ORPHA:221008
Pai Syndrome	Median cleft lip, Depressed nasal bridge, Nasal polyposis, Cleft palate, Abnormal oral frenulum m...	ORPHA:1993
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Rocker bottom foot, Kyphoscoliosis, Coxa valga, Prominent nose, Promin...	OMIM:214150
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ...	OMIM:113000
Ollier Disease	Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis, Platyspond...	ORPHA:296
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Hepatosplenomegaly, Increased proportion of memory T cells, Lymphadenopathy, Clubbing of fingers,...	OMIM:618982
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
12Q14 Microdeletion Syndrome	Wide nose, Prominent nasal bridge, Micrognathia, Abnormality of the spleen, Osteopoikilosis, Down...	ORPHA:94063
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Mesomelia, Convex nasal ridge, Abnorm...	ORPHA:1277
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Thanatophoric Dysplasia, Glasgow Variant	Micromelia, Anemia, Hepatosplenomegaly	OMIM:273680
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Mandibular prognathia, Sacral dimple, Toe syndactyly, Anteverted nares, Camptodact...	ORPHA:1327
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Limitation of joint mobility, Lateral humeral condyle aplasi...	ORPHA:2741
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Hepatomegaly, Lumbar hyperlordosis, Short neck, Splenomegaly, Delayed epiphyseal os...	OMIM:602557
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Bowing of the legs, Rickets, Iron deficiency anemia, Tooth abscess	ORPHA:89937
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,...	OMIM:259600
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Persistence of primary teeth, Supernumerary tooth, Recurrent upper respiratory tract infections, ...	OMIM:619752
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,...	OMIM:253000
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Hip contracture, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Elbow flex...	OMIM:616809
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Flexion contracture, Hip dysplasia, Scoliosis, Short nose	OMIM:618379
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Lethal Osteosclerotic Bone Dysplasia	Anteverted nares, Micrognathia, Short neck, Depressed nasal ridge, Gingival fibromatosis, Gingiva...	ORPHA:1832
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Eosinophilic Granulomatosis With Polyangiitis	Arthritis, Nasal polyposis, Sinusitis, Eosinophilia	ORPHA:183
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Increased bone mineral density, Rhizomel...	ORPHA:50945
Pseudoachondroplasia	Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Fra...	OMIM:177170
Potocki-Shaffer Syndrome	Prominent nasal bridge, Underdeveloped nasal alae, Broad nasal tip, Micrognathia, Depressed nasal...	ORPHA:52022
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, O...	ORPHA:79301
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Cr...	ORPHA:2863
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cel...	ORPHA:98848
Agammaglobulinemia 8B, Autosomal Recessive	Everted upper lip vermilion, Pancytopenia, Depressed nasal bridge, Splenomegaly, Decreased propor...	OMIM:619824
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, De...	OMIM:617021
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Wide nose, Iliac crest serration, Anteverted nares, Depressed nasal bridge, Short neck, Wide dist...	OMIM:613320
14Q11.2 Microdeletion Syndrome	Toe syndactyly, Depressed nasal bridge, Exaggerated cupid's bow, Micrognathia, Narrow mouth, Deep...	ORPHA:261120
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Subperiosteal bone formation, Osteosclerosis of the base of the skull	OMIM:609993
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i...	OMIM:619220
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Rosaï-Dorfman Disease	Osteolysis, Anemia, Lymphadenopathy	ORPHA:158014
Cernunnos-Xlf Deficiency	Bulbous nose, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Convex nasal ridge, Thro...	ORPHA:169079
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy	ORPHA:157991
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Short humerus, Short metacarpal, Wide nose, Hyperlordosis, Depressed nasal...	ORPHA:2831
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures	OMIM:615066
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate...	OMIM:249710
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Nasal polyposis, Bile duct polyp, Clubbing, Biliary tract abnormality, ...	OMIM:175200
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Splenomegaly, Failure to thrive, Rickets	OMIM:211600
Fetal Akinesia Deformation Sequence 4	Rocker bottom foot, Short neck, Micrognathia, Kyphosis, Wide nasal bridge, High palate, Camptodac...	OMIM:618393
Fanconi Renotubular Syndrome 3	Rickets, Bowing of the legs	OMIM:615605
Sandhoff Disease	Splenomegaly, Kyphosis, Hepatomegaly	ORPHA:796
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Femoral bowing, Shor...	OMIM:616723
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density	ORPHA:172
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Depressed nasal bridge, Broad na...	OMIM:619736
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Sacral dimple, Sandal gap, Anteverted nares, Postaxial polydactyly, Hyp...	OMIM:615761
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Immunodeficiency 102	Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Aphthous ul...	OMIM:301082
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Anteverted nares, Prominent nasal bridge, Dental crowding, Tapered fin...	OMIM:618825
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Anosmia, Epiphyseal stippling, Abnormality of the vertebral column, Short...	OMIM:302950
Pitt-Hopkins Syndrome	Anteverted nares, Prominent nasal bridge, Tapered finger, Short neck, Triangular nasal tip, Broad...	ORPHA:2896
Lipoid Proteinosis	Nasal polyposis, Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip ver...	ORPHA:530
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent aphthous stomatitis	OMIM:611762
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis...	OMIM:104570
Ciliary Dyskinesia, Primary, 35	Nasal polyposis, Abdominal situs ambiguus, Chronic sinusitis, Chronic rhinitis	OMIM:617092
Coxoauricular Syndrome	Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe...	ORPHA:1508
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Short neck, Micrognathia, Hypoplasia of the ma...	OMIM:201000
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Joint stiffness, Splenomegaly, Cleft palate, Reduced bone mineral density, Leukopen...	OMIM:620210
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Thin upper lip vermilion, Kyphosis, Wide mouth, Short philtrum, Everted lo...	ORPHA:2429
Aarskog-Scott Syndrome	Delayed eruption of teeth, Finger syndactyly, Anteverted nares, Camptodactyly of finger, Short ne...	ORPHA:915
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Protruding tongue, Coxa valga, Splenomegaly, Joint stiffness, Gingival overgrowth, ...	OMIM:230600
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ...	OMIM:618986
Terminal Osseous Dysplasia	Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm...	OMIM:300244
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hepatomegaly, Dental crowding, Anteverted nares, Micrognathia, Persistence of primary teeth, Thic...	OMIM:618342
Diamond-Blackfan Anemia 8	Macrocytic anemia, Wide nasal bridge, Increased mean corpuscular volume, Neutropenia, Short nose,...	OMIM:612563
Cyclic Neutropenia	Premature loss of permanent teeth, Lymphopenia, Sinusitis, Cyclic neutropenia, Perianal abscess, ...	ORPHA:2686
Odontomicronychial Dysplasia	Short nail, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, Prematu...	ORPHA:1811
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Nasal polyposis, Median cleft lip, High palate, Bifid uvula	OMIM:155145
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Short nose, B...	OMIM:618618
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Sparse scalp hair, Natal tooth, Sparse eyelashes, Sparse eyebrow, Cranial hyperostosis, Hypoplast...	OMIM:601345
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Depressed nasal bridge, Short neck, Kyphosis, Hip dislocation, Hepatosplenomegaly, ...	OMIM:608776
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Thrombocytopenia, Recurrent upper res...	ORPHA:508542
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Rec...	OMIM:602450
Pierpont Syndrome	Wide nose, Short neck, Broad nasal tip, Long upper lip, Short toe, Short foot, Broad philtrum, Pr...	OMIM:602342
Rhizomelic Syndrome, Urbach Type	Brachydactyly, Depressed nasal bridge, Short neck, Abnormality of the humerus, Wide anterior font...	ORPHA:3098
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Anteverted nares, Rocker bottom foot, Exaggerated cupid's bow, Wide mouth, Delayed eruption of pe...	OMIM:618506
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Sandal gap, Micrognathia, Splenomegaly, Depressed nasal ridge, Thin vermilion border, Narrow mout...	ORPHA:1046
Mucopolysaccharidosis Type 4	Bowing of the long bones, Anteverted nares, Abnormal dental enamel morphology, Coxa valga, Short ...	ORPHA:582
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615270
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Macroglossia, Congenital hip dislocation, Anemia	OMIM:614450
3M Syndrome	Congenital hip dislocation, Short neck, Increased vertebral height, Clinodactyly of the 5th finge...	ORPHA:2616
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Short metacarpal, Anteverted nares, Depressed nasal bridge, Short metatars...	OMIM:614613
Marshall-Smith Syndrome	Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue,...	ORPHA:561
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnormal oral mucosa morphology, Sple...	ORPHA:507
Shaheen Syndrome	Carious teeth, Enamel hypoplasia, Hypohidrosis	OMIM:615328
Peroxisome Biogenesis Disorder 6A (Zellweger)	Epiphyseal stippling, Wide nasal bridge, Decreased liver function, Hepatomegaly	OMIM:614870
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Overlapping toe, Short thumb, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger	OMIM:618453
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac...	OMIM:253010
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Wide nose, Prominent nasal bridge, Hypoplasia of the maxilla, Carious ...	ORPHA:50814
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Micrognathia, Unilambdoid synostosis, Wide nasal bridge, Broad philtrum, Scolio...	OMIM:618577
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, High palate, Hepatom...	OMIM:226980
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, Lon...	ORPHA:508533
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Bulbous nose, Short foot, Periodontitis, Reduction of neutrophil motility, Brachyda...	OMIM:266265
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp...	OMIM:619846
Difference Of Sex Development-Intellectual Disability Syndrome	Short neck, Kyphosis, Reduced bone mineral density, Genu valgum, Downturned corners of mouth, Thi...	ORPHA:2983
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg...	ORPHA:90652
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa...	OMIM:613330
Granulomatosis With Polyangiitis	Sinusitis, Oral ulcer, Granulomatosis, Concave nasal ridge, Nasal mucosa vasculitis	OMIM:608710
Vitamin K Antagonist Embryofetopathy	Anteverted nares, Depressed nasal bridge, Choanal atresia, Short neck, Punctate vertebral calcifi...	ORPHA:1914
Raine Syndrome	Mandibular prognathia, Short neck, Micrognathia, Choanal stenosis, High palate, Microdontia, Long...	OMIM:259775
Bone Marrow Failure Syndrome 6	Osteopenia, Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean co...	OMIM:618849
Ciliary Dyskinesia With Defective Radial Spokes	Nasal polyposis, Sinusitis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis	OMIM:242670
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Sparse eyebrow, Abnormal soft palate morphol...	ORPHA:884
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Abnormal eyebrow morphology, Decreased fertility, Hypodontia, Generali...	ORPHA:1816
Congenital Atransferrinemia	Arthritis, Anemia, Abnormality of the pancreas	ORPHA:1195
Ring Chromosome 8 Syndrome	Deviation of finger, Short nose, Anteverted nares, Abnormal palate morphology	ORPHA:1450
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the...	OMIM:130060
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Joint hyperflexibility, Platyspondyly, A...	ORPHA:90653
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Hepatomegaly	OMIM:606445
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Cardiomegaly, Hypoplasia of the maxilla, Eruptio...	OMIM:182250
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Anteverted nares, Depressed...	OMIM:616331
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:607685
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose	ORPHA:1355
Immunodeficiency 33	Delayed eruption of teeth, Hypodontia, Conical tooth	OMIM:300636
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Osteomalacia, Bowing of the legs, Reduced bone mineral density, Hypophosphatemic rickets, Patholo...	ORPHA:157215
Distal Duplication 18Q	Arachnodactyly, Camptodactyly of finger, Anteverted nares, Short neck, Progressive intervertebral...	ORPHA:1716
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Abnormality of the philtrum, Camptodactyly of finger, Recurrent fractures, Short ...	ORPHA:3409
Achondrogenesis	Anteverted nares, Short neck, Abnormal enchondral ossification, Micrognathia, Abnormality of bone...	ORPHA:932
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Reduced bone miner...	ORPHA:848
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, High palate, Widely spaced teet...	ORPHA:192
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:618261
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Sialidosis Type 2	Hepatomegaly, Splenomegaly, Kyphosis, Flexion contracture, Osteoporosis, Ascites	ORPHA:87876
Specific Granule Deficiency 2	Osteopenia, Absent neutrophil specific granules, Brachydactyly, Sandal gap, Conical tooth, Thromb...	OMIM:617475
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Wide nose, Tapered finger, Kyphosis, Oligodontia, Everted lower lip vermilion, Scoliosis, Anodontia	ORPHA:276630
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Achondrogenesis Type 1A	Anteverted nares, Recurrent fractures, Short neck, Abnormal enchondral ossification, Micrognathia...	ORPHA:93299
Ciliary Dyskinesia, Primary, 42	Nasal polyposis, Chronic rhinitis, Recurrent sinusitis	OMIM:618695
Clark-Baraitser syndrome	Joint laxity, Exaggerated median tongue furrow, Anteverted nares, Tapered finger, Broad nasal tip...	OMIM:300602
Shwachman-Diamond Syndrome	Normocytic anemia, Osteopenia, Sinusitis, Aplastic anemia, Transient neutropenia, Metaphyseal cho...	ORPHA:811
Felty Syndrome	Hepatomegaly, Sinusitis, Splenomegaly, Thrombocytopenia, Limitation of joint mobility, Recurrent ...	ORPHA:47612
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali...	ORPHA:543
Acrocraniofacial Dysostosis	Micrognathia, Abnormal form of the vertebral bodies, Short philtrum, Triphalangeal thumb, Advance...	ORPHA:949
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Arthritis, Abnormal oral cavi...	ORPHA:42642
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os...	ORPHA:93357
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal dental morphology, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Malar prominence, ...	ORPHA:2522
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ...	OMIM:614172
Three M Syndrome 2	Prominent nasal tip, Delayed eruption of teeth, Lumbar hyperlordosis, Anteverted nares, Depressed...	OMIM:612921
Ciliary Dyskinesia, Primary, 30	Nasal congestion, Absent outer dynein arms, Nasal polyposis, Chronic sinusitis	OMIM:616037
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Hypoplasia of the maxilla, Depressed nasal ridge, Thick nasal alae, Hypoplasti...	ORPHA:79345
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, K...	OMIM:619797
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Osteoarthritis, Arthralgia of the hip, Abnormality of ...	ORPHA:166002
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Hepatomegaly, Rhizomelia, Anteverted nares, Micromelia, Abnormal thumb mor...	ORPHA:1842
Kniest Dysplasia	Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Tracheomalacia, Delayed epiphyseal ossifi...	OMIM:156550
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Ciliary Dyskinesia, Primary, 19	Rhinitis, Nasal polyposis, Recurrent sinusitis, Absent inner and outer dynein arms	OMIM:614935
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Osteopenia, Osteomyelitis, Eosinophilia, Recurrent fractures, Abnormal...	ORPHA:2314
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Short metacarpal, Kyphoscoliosis, Flexion contracture, Abnormal form o...	ORPHA:263463
Kenny-Caffey Syndrome, Type 2	Increased bone mineral density, Small for gestational age, Thickened cortex of long bones, Anemia...	OMIM:127000
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, O...	ORPHA:98850
Clark-Baraitser Syndrome	Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Sandal gap, Anteverted nares, ...	OMIM:617752
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ...	OMIM:259420
Laron Syndrome	Delayed eruption of teeth, Hypoplastic nasal bridge, Aplasia/Hypoplasia involving the nose, Micro...	ORPHA:633
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Prominent nose, Micrognathia, Hypoplasia of the maxilla, Short metatarsal,...	ORPHA:439822
Microcephalic Primordial Dwarfism, Montreal Type	Micrognathia, Open bite, Kyphosis, Carious teeth, Reduced bone mineral density, Vertebral segment...	ORPHA:2617
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, S...	ORPHA:583
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia	OMIM:613382
Intellectual Developmental Disorder, Autosomal Recessive 41	Mandibular prognathia, Hepatomegaly, Broad nasal tip, Splenomegaly, High palate, Clinodactyly of ...	OMIM:615637
Sarcoidosis	Hemolytic anemia, Hepatomegaly, Abnormal nasal mucosa morphology, Eosinophilia, Portal hypertensi...	ORPHA:797
Coffin-Siris Syndrome 3	Joint laxity, Wide nose, Depressed nasal bridge, Anteverted nares, Short distal phalanx of the 5t...	OMIM:614608
Vascular Malformation, Primary Intraosseous	Ectopic tooth eruption, Gingival bleeding, Hypochromic anemia	OMIM:606893
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Recurrent sinusitis, Decreased proportion of CD4-po...	OMIM:618204
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip	OMIM:616788
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Failure to thrive, Osteoporosis, Rickets	OMIM:560000
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Thin upper lip vermilion, Sandal gap, Anteverted nares, Dental crowding, Short toe, P...	OMIM:617877
Smith-Mccort Dysplasia 1	Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap...	OMIM:607326
Babesiosis	Hemolytic anemia, Hepatomegaly, Recurrent pharyngitis, Thrombocytopenia, Limitation of joint mobi...	ORPHA:108
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Splenomegal...	ORPHA:3035
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Bruck Syndrome 1	Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor...	OMIM:259450
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Recon Progeroid Syndrome	Joint laxity, Prominence of the premaxilla, Dental crowding, Arachnodactyly, Proximal placement o...	OMIM:620370
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Depressed nasal bridge, Kyphosis, Small hand, Hip dislocation, Short foot, Scoliosis	OMIM:300434
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o...	OMIM:616007
Bethlem Myopathy 2	Distal joint laxity, Kyphosis, Flexion contracture, Hip dislocation, Scoliosis	OMIM:616471
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Chung-Jansen Syndrome	Anteverted nares, Tapered finger, Micrognathia, Hip dysplasia, Thin vermilion border, High palate...	OMIM:617991
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio...	ORPHA:2712
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Multiple prenatal fractures, Kyphosis, Dentinogenesis imperfecta, Decreased ...	OMIM:259440
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short femur, Fractured radius, Anteverted nares, Decreased fibular diameter, Multiple...	OMIM:616897
Rhiny	Short nose, Thin vermilion border, Anteverted nares	OMIM:180360
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Cog7-Cdg	Elevated hepatic transaminase, Hepatomegaly, Short neck, Micrognathia, Long fingers, Jaundice, Ab...	ORPHA:79333
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Ciliary Dyskinesia, Primary, 2	Nasal polyposis, Sinusitis, Absent inner and outer dynein arms	OMIM:606763
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Verheij Syndrome	Joint laxity, Vertebral fusion, Branchial cyst, Thin upper lip vermilion, Anteverted nares, Short...	OMIM:615583
Bare Lymphocyte Syndrome, Type I	Nasal polyposis, Chronic sinusitis	OMIM:604571
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Cleft palate, Mesomelia, Thin vermilion border...	ORPHA:2631
Perlman Syndrome	Hepatomegaly, Anteverted nares, Micrognathia, High, narrow palate, Open mouth, Abnormal pancreas ...	ORPHA:2849
Tarp Syndrome	Finger syndactyly, Extramedullary hematopoiesis, Anteverted nares, Rocker bottom foot, Postaxial ...	ORPHA:2886
Ciliary Dyskinesia, Primary, 22	Nasal polyposis, Rhinitis, Recurrent sinusitis, Absent inner and outer dynein arms	OMIM:615444
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Intellectual Developmental Disorder, Autosomal Dominant 26	Prominent nasal tip, Anteverted nares, Depressed nasal bridge, Micrognathia, Kyphosis, Deep philt...	OMIM:615834
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Micrognathia, Splenomegaly, Flexion contracture, Thin vermilion border, Joint contr...	OMIM:608540
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly	OMIM:608898
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Ciliary Dyskinesia, Primary, 15	Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis, Chronic sinusitis	OMIM:613808
Achondrogenesis Type 1B	Anteverted nares, Short neck, Abnormal enchondral ossification, Micrognathia, Short foot, Long ph...	ORPHA:93298
Greenberg Dysplasia	Micromelia, Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Patchy variatio...	OMIM:215140
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Hepatomegaly, Sp...	OMIM:228000
Adenylosuccinate Lyase Deficiency	Thin upper lip vermilion, Anteverted nares, Long philtrum, Short nose, Smooth philtrum	ORPHA:46
Mulibrey Nanism	Hepatomegaly, Wide nose, Depressed nasal bridge, Dental crowding, Cardiomegaly, Absent frontal si...	OMIM:253250
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Short neck, Micrognathia, Reduced bone mineral density, Glosso...	ORPHA:94068
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxi...	OMIM:226990
Fibrochondrogenesis 2	Anteverted nares, Micrognathia, Hypoplastic ilia, Metaphyseal widening, Short nose, Hypoplastic p...	OMIM:614524
17P13.3 Microduplication Syndrome	Wide nose, Congenital hip dislocation, Short neck, High palate, Narrow mouth, Clinodactyly of the...	ORPHA:217385
Infantile Systemic Hyalinosis	Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Micromel...	ORPHA:2176
Hurler Syndrome	Short neck, Metaphyseal widening, Flexion contracture, Microdontia, Hepatomegaly, Hypoplasia of t...	OMIM:607014
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Flared m...	ORPHA:93352
Hutchinson-Gilford Progeria Syndrome	Short lingual frenulum, Dental crowding, Micrognathia, Osteoarthritis, Reduced bone mineral densi...	ORPHA:740
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Osteomalacia, Joint stiffness, Coxa valga, Avascular necrosis of the capital femoral ...	ORPHA:1901
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Scarring alopecia of scalp, Hypoplastic sweat glands, Cleft palate, Hypohidrosis, Sh...	OMIM:617337
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow pa...	OMIM:613684
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Craniolenticulosutural Dysplasia	Osteopenia, High palate, Bifid uvula, Joint laxity, Anteverted nares, Wide anterior fontanel, Wid...	OMIM:607812
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Hennekam Syndrome	Delayed eruption of teeth, Finger syndactyly, Lymphopenia, Abnormal dental morphology, Abnormal o...	ORPHA:2136
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Recurrent sinusitis, Thrombocytosis	OMIM:619281
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Brachydactyly, Abnormality of the dentition, Kyphosis, Dental malocclusion...	ORPHA:1858
Hurler-Scheie Syndrome	Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Limitation of joint mobility, Spinal cana...	ORPHA:93476
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Kyphosis, Osteoporosis, Macrovesicular hepatic steatosis, Scoliosis	OMIM:618234
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Craniosynosto...	ORPHA:171839
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short neck, Short toe, Short...	OMIM:103580
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Anterior wedging of L1, Hepato...	OMIM:253200
Baker-Gordon Syndrome	Joint laxity, Thin upper lip vermilion, Scoliosis, Prominent nasal tip, Short nose, Smooth philtrum	OMIM:618218
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Absence of lymph node ge...	OMIM:608184
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Craniosynostosis 2	Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Triphalangeal th...	OMIM:604757
Prolidase Deficiency	Hepatomegaly, Depressed nasal bridge, Elevated circulating aspartate aminotransferase concentrati...	OMIM:170100
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Eosinophilia, Micrognath...	OMIM:617237
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Osteomalacia, Rickets	OMIM:613388
Ruvalcaba Syndrome	Short metacarpal, Dental crowding, Underdeveloped nasal alae, Kyphosis, Limited elbow extension, ...	OMIM:180870
Ciliary Dyskinesia, Primary, 5	Nasal polyposis, Chronic rhinitis, Recurrent sinusitis	OMIM:608647
Zimmermann-Laband Syndrome	Hallux valgus, Hepatomegaly, Wide nose, Short neck, Micrognathia, Splenomegaly, Bulbous nose, Sup...	ORPHA:3473
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Osteolysis, Wei...	ORPHA:324964
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Nasal polyposis, Recurrent sinusitis	OMIM:620197
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Recurren...	ORPHA:169154
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral...	ORPHA:249
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers...	OMIM:610915
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Microgna...	OMIM:613848
X-Linked Intellectual Disability, Stocco Dos Santos Type	Congenital bilateral hip dislocation, Depressed nasal bridge, Kyphosis	ORPHA:85288
Poems Syndrome	Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Lymphadenopathy, Ascites, ...	ORPHA:2905
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Hypoplasi...	ORPHA:1529
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Hip dislocation, Wide nasal bridge, High palate, Neutropenia, Limb undergrowth, Joint...	OMIM:618005
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc...	OMIM:600175
C Syndrome	Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Anteverted nares, Hepatomeg...	OMIM:211750
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent...	ORPHA:1350
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morph...	ORPHA:93351
Asthma, Nasal Polyps, And Aspirin Intolerance	Nasal polyposis	OMIM:208550
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Spondylometaphyseal Dysplasia, Axial	Splenomegaly, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspondyly, Narrow greater...	OMIM:602271
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Dental crowding, Micrognathia, Kyphosis, Elevated ci...	OMIM:615381
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Spondylometaphyseal Dysplasia, Kozlowski Type	Depressed nasal bridge, Irregular, rachitic-like metaphyses, Short neck, Kyphoscoliosis, Hypoplas...	OMIM:184252
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Femoral-Facial Syndrome	Thin upper lip vermilion, Short femur, Micrognathia, Abnormal sacrum morphology, Abnormal fibula ...	ORPHA:1988
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Metaphyseal cupping of proximal phalanges, Depressed nasal ridge, Metaphyseal cupping of metacarp...	OMIM:300863
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Abnorm...	ORPHA:93360
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal...	OMIM:101800
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Abnormality of the dentition, Limitation of joint mobility, Epiphyseal stippling, Abn...	ORPHA:177
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Short neck, Spinal rigidity, Kyphosis, Micrognathia, Flexion contracture, Hip dislocati...	ORPHA:75840
Schwartz-Jampel Syndrome	Short neck, Micrognathia, Coxa vara, High palate, Wrist flexion contracture, Pursed lips, Increas...	ORPHA:800
Chromosome 6Q11-Q14 Deletion Syndrome	Joint laxity, Thin upper lip vermilion, Sacral dimple, Prominent nasal bridge, Broad nasal tip, S...	OMIM:613544
Progressive Pseudorheumatoid Dysplasia	Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joi...	OMIM:208230
Uruguay Faciocardiomusculoskeletal Syndrome	Hallux valgus, Elevated hepatic transaminase, Wide nose, Congenital hip dislocation, Left ventric...	OMIM:300280
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Osteopenia, Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Clubbing of fingers, Bone...	OMIM:614742
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Oral ulcer, Lymphadenopathy, Hepatospl...	OMIM:615122
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me...	OMIM:602875
48,Xxyy Syndrome	Delayed eruption of teeth, Broad jaw, Abnormal dental enamel morphology, Open bite, Carious teeth...	ORPHA:10
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Depressed nasal bridge, Short neck, Wide anterior fontanel, Thrombocy...	OMIM:606003
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Recurrent sinusitis, Absent circulating B cells	OMIM:619707
Char Syndrome	Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Depressed nasal bridge, P...	ORPHA:46627
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormally o...	ORPHA:1427
Immunodeficiency 68	Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural ...	OMIM:612260
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Thin upper lip vermilion, Micrognathia, ...	ORPHA:329178
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Abnormality of hair texture, Dental malocclusion, Thick vermi...	OMIM:601957
Anti-Glomerular Basement Membrane Disease	Arthritis, Anemia, Persistence of primary teeth	ORPHA:375
Autoimmune Hypoparathyroidism	Increased bone mineral density	ORPHA:36913
Pelger-Huet Anomaly	Depressed nasal bridge, Abnormality of neutrophils, Abnormality of the dentition, Kyphosis, Hypos...	OMIM:169400
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Kaposiform Lymphangiomatosis	Abnormal femur morphology, Abnormal form of the vertebral bodies, Abnormality of the cervical spi...	ORPHA:464329
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Micrognathia, Narrow mouth, Open mouth, Delayed eruption of permanent teeth, Sh...	OMIM:619356
Lathosterolosis	Bilobate gallbladder, Micrognathia, High palate, Thick upper lip vermilion, Anteverted nares, Inc...	OMIM:607330
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Craniosynostosis...	OMIM:614732
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Reduced bo...	ORPHA:1451
Stüve-Wiedemann Syndrome	Osteopenia, Bowing of the long bones, Camptodactyly of finger, Micromelia, Abnormality of the den...	ORPHA:3206
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m...	ORPHA:952
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Kyphosis, Small ha...	ORPHA:3121
Atelosteogenesis, Type Ii	Sandal gap, Depressed nasal bridge, Micromelia, Micrognathia, Bifid humerus, Flat acetabular roof...	OMIM:256050
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Anteverted nares, Depressed nasal bridge, Recurrent upper respiratory tract infections, B lymphoc...	OMIM:614069
Niemann-Pick Disease, Type A	Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Osteoporosis, Lymphadenopa...	OMIM:257200
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor...	ORPHA:1263
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares...	OMIM:612394
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Recurrent pharyng...	OMIM:308240
Immunodeficiency 62	Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Increased proportion o...	OMIM:618459
Schneckenbecken Dysplasia	Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i...	OMIM:269250
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Depressed nasal...	OMIM:608022
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Joint laxity, Thin upper lip vermilion, Wide nose, Anteverted nares, Down-sloping shoulders, Kyph...	ORPHA:391408
Cinca Syndrome	Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Arthritis, Anemia	OMIM:607115
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Thin upper lip vermilion, Short fourth metatarsal, Short fifth metatarsal,...	OMIM:619841
Peters-Plus Syndrome	Short lingual frenulum, Proximal placement of thumb, Micrognathia, Hypoplasia of the maxilla, Lim...	OMIM:261540
Agammaglobulinemia 3, Autosomal Recessive	Neutropenia, Absent circulating B cells, Abnormal T cell morphology	OMIM:613501
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:601859
Cole-Carpenter Syndrome	Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Recurrent fractures, Ab...	ORPHA:2050
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Clinodactyly, Decreased proportion o...	OMIM:618048
Bile Acid Synthesis Defect, Congenital, 1	Splenomegaly, Failure to thrive, Rickets	OMIM:607765
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili...	ORPHA:93296
Spinocerebellar Ataxia-Dysmorphism Syndrome	Anteverted nares, Reduced bone mineral density, Downturned corners of mouth, Slender long bone, J...	ORPHA:1185
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo...	ORPHA:2496
Cystic Fibrosis	Hepatomegaly, Nasal polyposis, Biliary cirrhosis, Hepatosplenomegaly, Clubbing of fingers, Cirrho...	OMIM:219700
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Anteverted nares, Micrognathia, Open mouth, Bulbous nose, Pierre-Robin ...	OMIM:613604
Kagami-Ogata Syndrome	Hepatomegaly, Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, ...	OMIM:608149
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon...	OMIM:605282
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Brachydactyly, Wide nose, Sandal gap, Anteverted nares, Depressed nasa...	OMIM:614607
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Increased suscept...	OMIM:602080
Oculodentodigital Dysplasia	Mandibular prognathia, Micrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal ...	ORPHA:2710
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Rhizomelia, Anteverted nares, Craniosynostosis, Micrognathia, ...	ORPHA:93329
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Eosinophilia, Kyphoscoliosis...	OMIM:617425
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Depressed nasal bridge, Postaxial polydactyly, Cario...	OMIM:617102
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Faciocardiomelic Syndrome	Osteopenia, Micrognathia, Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypopl...	OMIM:612731
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Dental crowding, Short neck, Micrognathia, Generalized joint laxity, Tibial bowing, H...	ORPHA:251028
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Underdeveloped nasal alae, Wide nasal bridge, Downturned corners...	OMIM:601224
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Arthrogryposis, Distal, Type 4	Osteopenia, 2-5 finger cutaneous syndactyly, Depressed nasal bridge, Kyphosis, Camptodactyly of 2...	OMIM:609128
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Wide nose, Depressed nasal bridge, Down-sloping...	ORPHA:96264
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Lymphadenopathy	OMIM:617772
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Recurrent upper respiratory tract infections, Enlarged tonsils, Chronic lymphatic l...	OMIM:616005
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Dental crowding, Short neck, Knee flexion contracture, High palate, Spina ...	OMIM:193700
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:603909
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Long nose, Hypoplasia of the maxilla, Hypoplasia of the primary te...	OMIM:257850
Tularemia	Brain abscess, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Leukocytosis, Thrombocytope...	ORPHA:3392
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Broad nasal tip, Malar flattening, Short nose, Retrognathia, Open mouth	OMIM:613670
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowin...	ORPHA:1652
Holoprosencephaly 9	Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Postaxial hand polydact...	OMIM:610829
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Gingival overgrow...	OMIM:614753
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Conical incisor, Oligodontia, Cutaneous finger syndactyly, Hypoplastic iliac wing, Short palm, Sp...	OMIM:235510
Adenocarcinoma Of The Esophagus	Clinodactyly of the 5th toe, Lymphadenopathy	ORPHA:99976
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Joint hypermobility	OMIM:618323
Pachydermoperiostosis	Hepatomegaly, Osteomyelitis, Splenomegaly, Limitation of joint mobility, Small hand, Osteoporosis...	ORPHA:2796
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Thin upper lip vermilion, Wide nasal bridge, T lymphocytopenia, B lymphocytopenia, Recurrent apht...	OMIM:615966
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	OMIM:615010
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia, Absence of lymph node germinal center	OMIM:606843
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Purulent rhinitis, T lymphocytopenia, B lymphocytopenia, Arthritis	OMIM:601457
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Momo Syndrome	Delayed eruption of teeth, Short neck, Thick lower lip vermilion, Dental malocclusion, Femoral bo...	ORPHA:2563
Peho-Like Syndrome	Short nose, Retrognathia, Open mouth, Tapered finger	OMIM:617507
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Osteopenia, Aplastic anemia, Eosinophilia, Oral ulcer, Gingivitis, Acute ...	ORPHA:486
Thrombocytopenia, Anemia, And Myelofibrosis	Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia	OMIM:617441
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Craniosynostosis, Micrognathia, Split hand, Cleft palate, Malar flattening, Sh...	ORPHA:2145
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Osteoporosis, Recurrent fractures, Femoral bowing	OMIM:126550
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Kyphoscoliosis, Joint stiffness, Splenomegaly, Recurrent upper respiratory tract in...	OMIM:252930
Leukodystrophy, Hypomyelinating, 24	Flexion contracture, B lymphocytopenia, Tongue fasciculations	OMIM:619851
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Short palm, Jo...	OMIM:601812
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Cleft palate, Radioulnar synostosis, Short middle phalanx of the 4th finger, Ne...	OMIM:616738
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Camptodactyly of finger, Micrognathia, Malar prominence, Kyphosis, Osteoporosis, Scoliosis, Abnor...	ORPHA:48431
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Joint stiffness, Splenomegaly, Recurrent upper respiratory tract infections, Ovoid ...	OMIM:252900
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Increased bone mineral density, Depressed nasal bridge, Cortical subpe...	ORPHA:94089
Acrootoocular Syndrome	Delayed eruption of teeth, Short metacarpal, Sandal gap, Abnormal finger flexion crease, Kyphosco...	ORPHA:2980
Achondroplasia	Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat...	ORPHA:15
Ohdo Syndrome	Joint laxity, Depressed nasal bridge, Anteverted nares, Micrognathia, Wide nasal bridge, Hypoplas...	OMIM:249620
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Depressed nasal bridge, Anteverted nares, Abnormality of the spleen, ...	ORPHA:85212
Trigonocephaly 1	Craniosynostosis, High, narrow palate, Wide nasal bridge, Lumbar hemivertebrae, Long philtrum, Sh...	OMIM:190440
Autism Spectrum Disorder Due To Auts2 Deficiency	Prominent nasal tip, Anteverted nares, Micrognathia, Kyphosis, Wide nasal bridge, Retrognathia, C...	ORPHA:352490
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate p...	OMIM:224120
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short neck, Short metatarsal...	OMIM:612462
Congenital Disorder Of Glycosylation, Type Iu	Elevated hepatic transaminase, Thin upper lip vermilion, Micrognathia, Congenital contracture, Hi...	OMIM:615042
Even-Plus Syndrome	Epiphyseal dysplasia, Short neck, Bifid nasal tip, Vertebral clefting, Depressed nasal ridge, Cor...	OMIM:616854
Lowry-Maclean Syndrome	Osteopenia, Choanal atresia, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Abnormali...	ORPHA:2409
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal...	OMIM:613011
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Joint stiffness, Micrognathia, Long fingers, Ulnar deviation o...	ORPHA:1895
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Periventricular Nodular Heterotopia 7	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverte...	OMIM:617201
Cenani-Lenz Syndrome	High, narrow palate, Abnormal form of the vertebral bodies, Foot oligodactyly, Short philtrum, Sy...	ORPHA:3258
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Autoimmune hemolytic anemia, Sinusitis, Aplasia of the thymus, Severe B lymphocytop...	OMIM:102700
Chime Syndrome	Abnormal dental morphology, Aplastic clavicle, Abnormality of the dentition, Supernumerary tooth,...	ORPHA:3474
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Joint stiffness, Cardiomegaly, Splenomegaly, Recurrent upper respiratory tract infe...	OMIM:252920
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Hepatomegaly, Tented upper lip vermilion, Overlapping toe, Anteverted nares,...	OMIM:619383
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Short neck, Micrognathia, Kyphosis, Hip dysplasia, High palate, Scoliosis, Ar...	OMIM:611890
Crisponi Syndrome	Wide nose, Anteverted nares, Camptodactyly of finger, Micrognathia, Kyphosis, Flexion contracture...	ORPHA:1545
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Bloom Syndrome	Syndactyly, Elevated hemoglobin A1c, Agenesis of maxillary lateral incisor, Hand polydactyly, Cli...	OMIM:210900
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Pigment gallstones, Microcytic anemia, Abnormal...	ORPHA:232
Metaphyseal Acroscyphodysplasia	Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga...	ORPHA:1240
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Smooth philtrum, Slender nose, Thin upper lip vermilion, Micrognathia, Wide mouth, Scoliosis, Joi...	OMIM:615419
Dpm1-Cdg	Hepatomegaly, Tented upper lip vermilion, Sandal gap, Depressed nasal bridge, Micrognathia, High,...	ORPHA:79322
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
48,Xxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Down-sloping shoulders, Abnormal dental enamel ...	ORPHA:96263
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Cryptorchidism, Submucous cleft hard palate, Cleft palate, Hypogonadism, Failure of eruption of p...	ORPHA:2250
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Prominent nasal bridge, Short toe, Cone-shaped epiphyses of the phalanges of the hand...	OMIM:619269
Immunodeficiency 32A	Lymphadenitis, Granuloma, Lymphadenopathy	OMIM:614893
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec...	OMIM:618935
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Microcytic anemia, Short neck, D...	OMIM:619750
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Depressed nasal ridge, Tibial bowing, Neutropenia, Abno...	ORPHA:175
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph...	ORPHA:54251
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Prominent nasal bridge, Short neck, Kyphosis, Flexion contracture, High palate, Scoliosis, Arthro...	ORPHA:178148
Fatty Acyl-Coa Reductase 1 Deficiency	Thin upper lip vermilion, Depressed nasal bridge, Long philtrum, Short nose, Smooth philtrum	ORPHA:438178
Miller-Dieker Syndrome	Sacral dimple, Anteverted nares, Abnormal upper lip morphology, Clinodactyly of the 5th finger, S...	ORPHA:531
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foo...	OMIM:206920
Mcdonough Syndrome	Mandibular prognathia, Underdeveloped nasal alae, Prominent nose, Kyphosis, Micrognathia, Open bi...	ORPHA:2471
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Split hand, Flexion ...	OMIM:309900
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto...	OMIM:614700
Burn-Mckeown Syndrome	Prominent nasal bridge, Wide nasal bridge, Bilateral choanal atresia, Short nose, Abnormal palate...	ORPHA:1200
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Elevated hepatic transaminase, Hepatomegaly, Anteverted nares, Micrognathia, Metaphyseal widening...	ORPHA:73230
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Scoliosis	OMIM:300718
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Conv...	OMIM:610333
Filippi Syndrome	2-4 toe syndactyly, Cutaneous syndactyly, Finger clinodactyly, Thin vermilion border, Short philt...	OMIM:272440
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:620010
Gray Platelet Syndrome	Splenomegaly, Epistaxis, Thrombocytopenia	ORPHA:721
Myopathic Ehlers-Danlos Syndrome	Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Ankle flexion ...	ORPHA:536516
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Prominent nasal bridge, Rocker bottom foot, Anisocytosis, Micrognathia, Flexion con...	OMIM:604273
Down Syndrome	Joint laxity, Sandal gap, Depressed nasal bridge, Short neck, Protruding tongue, Abnormality of t...	ORPHA:870
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Camptodactyly of finger, Micrognathia, Avascular necrosis of the capital femora...	ORPHA:77258
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Anterior atlanto-occ...	ORPHA:536467
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Short toe, Leukocytosis, Lymphadenopathy, Abnormal meta...	ORPHA:39041
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Pathologic ...	OMIM:230800
Poikiloderma With Neutropenia	Joint laxity, Depressed nasal bridge, Underdeveloped nasal alae, Joint stiffness, Splenomegaly, M...	OMIM:604173
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Absent peripheral lymph nodes in presence of infection, Conical tooth, Increased T ce...	ORPHA:98813
Stuve-Wiedemann Syndrome 1	Short neck, Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contracture, Smooth tongue,...	OMIM:601559
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Asc...	ORPHA:858
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly	OMIM:269840
Dermotrichic Syndrome	Anemia, Depressed nasal bridge, Abnormal vertebral morphology, Short nose	ORPHA:99688
Hurler-Scheie Syndrome	Hepatomegaly, Depressed nasal bridge, Camptodactyly of finger, Joint stiffness, Micrognathia, Con...	OMIM:607015
Pseudohypoparathyroidism Type 1C	Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Short metatarsal, Obesi...	ORPHA:79444
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, 11 pairs of ribs, Severe B lymphocytopenia, Depressed nasal bridge, Portal hype...	OMIM:620005
Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Abnormality of the dentition, Pituitary adenoma, Supernumerary tooth, ...	ORPHA:733
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Hemivertebrae, Short palm,...	OMIM:268310
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Arachnodactyly, Abnormality of the dentition, Joint stiffness, Kyphosis, Scoliosis	ORPHA:1548
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Short neck, Tapered finger, Micrognathia, Narrow mouth, Wide nasal bridge, Narrow palate, Hypopla...	OMIM:620250
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Glossoptosis, Vertebral segmentation de...	OMIM:611209
Chand Syndrome	Short fifth metatarsal, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphol...	ORPHA:1401
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Wide anterior fontanel, Wide nasal bridge, Epiphyseal stippling	OMIM:614859
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Hepatomegaly, Neutrophilia, Osteomyelitis, Abscess, Splenomegaly, Periostitis, Osteol...	OMIM:612852
Astley-Kendall Dysplasia	Epiphyseal stippling, Micromelia	ORPHA:85175
Cdkl5-Deficiency Disorder	Hallux valgus, Broad proximal phalanges of the hand, Kyphosis, Deep philtrum, Thick vermilion bor...	ORPHA:505652
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat...	OMIM:271700
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly, Pancytopenia, Abnormal limb bone morphology, Downturned corners of mouth, Epiphysea...	ORPHA:251009
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Osteolysis, Weight loss, Abnormal epiphysis morpho...	ORPHA:35687
Juvenile Paget Disease	Bowing of the long bones, Recurrent fractures, Abnormality of the dentition, Cranial hyperostosis...	ORPHA:2801
Teebi Hypertelorism Syndrome 1	Thin upper lip vermilion, Natal tooth, Depressed nasal bridge, Anteverted nares, Sagittal cranios...	OMIM:145420
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Ti...	OMIM:223800
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Microg...	OMIM:301045
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Cartilage...	ORPHA:829
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Camptodactyly of finger, Micrognathia, Narrow mouth, Short nose, Abnormal palate morphology	ORPHA:1495
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz...	OMIM:618019
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Abnormal intervertebral disk morphology, Anteverted nares, Carious teeth, Deep philtrum, Thick lo...	ORPHA:2701
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Osteoporosis	ORPHA:2786
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Ovoid vertebra...	OMIM:260400
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
4H Leukodystrophy	Delayed eruption of teeth, Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Decr...	ORPHA:289494
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Everted upper lip vermilion, Depressed nasal bridge, Anteverted nares, Cardiomegaly...	OMIM:608013
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Bowing of the legs, Short neck, Micrognathia, Depressed nasal ridge, Triangular shaped distal pha...	OMIM:271665
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc...	OMIM:301040
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Micromelia, Micrognathia, Bowing of the legs, Deep philtrum, Metaphys...	OMIM:255800
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Osteolysis, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:391
Fetal Valproate Spectrum Disorder	Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Narrow mouth, Short no...	ORPHA:1906
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Short neck, Hypoplasia of the maxilla, Short palm, Joint...	OMIM:305400
Macrocephaly/Autism Syndrome	Joint laxity, Hepatomegaly, Depressed nasal bridge, Splenomegaly, High palate, Long philtrum, Sho...	OMIM:605309
Bruck Syndrome	Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon...	ORPHA:2771
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Osteoporosis, Portal fibrosis, Hepatic f...	ORPHA:369
Sialuria	Neuropathic spinal arthropathy, Hepatomegaly, Elevated hepatic transaminase, Smooth philtrum, Thi...	ORPHA:3166
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Depressed nasal bridge, Dumbbell-shaped long bone, Hypoplastic ischia,...	OMIM:151210
Autoinflammatory Disease, Systemic, X-Linked	Osteomyelitis, Conical tooth, Hepatosplenomegaly, B lymphocytopenia, Neutropenia	OMIM:301081
Odontomicronychial Dysplasia	Premature eruption of permanent teeth, Short nail	OMIM:601319
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hallux valgus, Thoracic kyphoscoliosis, Pancytopenia, Lumbar hyperlordosis, Hepatomegaly, Choanal...	OMIM:613385
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
14Q24.1Q24.3 Microdeletion Syndrome	Joint laxity, Limited elbow extension and supination, Thin upper lip vermilion, Prominent nasal b...	ORPHA:401935
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Geleophysic Dysplasia 1	Short palm, Osteopenia, Hepatomegaly, Smooth philtrum, Anteverted nares, Camptodactyly of finger,...	OMIM:231050
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Werner Syndrome	Increased bone mineral density, Rocker bottom foot, Joint stiffness, Small hand, Osteoporosis, Sl...	ORPHA:902
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Smith-Magenis Syndrome	Mandibular prognathia, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Tented upper lip...	ORPHA:819
Gapo Syndrome	Mandibular prognathia, Delayed eruption of teeth, Thick nasal alae, Anteverted nares, Depressed n...	ORPHA:2067
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Increased mean pl...	OMIM:314050
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Micrognathia, Leukocytosis, Wide nasal bridge, Lymphadenopathy, Acute...	ORPHA:99812
Myofibrillar Myopathy 10	Mandibular prognathia, Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture...	OMIM:619040
Stickler Syndrome, Type I	Micrognathia, Osteoarthritis, Bifid uvula, Arachnodactyly, Anteverted nares, Depressed nasal brid...	OMIM:108300
Wilson Disease	Back pain, Hepatomegaly, Acute hepatitis, Acute hepatic failure, Elevated hepatic transaminase, S...	ORPHA:905
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Broad metacarpals, Hypo...	ORPHA:56304
Gaucher Disease Type 3	Hepatomegaly, Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Increased s...	ORPHA:77261
Sanjad-Sakati Syndrome	Depressed nasal bridge, Abnormal dental enamel morphology, Patchy osteosclerosis, Micrognathia, A...	ORPHA:2323
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the dentition, Supernumerary tooth, Oligodontia, Short 5th metacarpal, Brachydactyly	ORPHA:1264
Nance-Horan Syndrome	Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incis...	OMIM:302350
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Trichothiodystrophy 3, Photosensitive	Natal tooth, Carious teeth, Abdominal adhesions, Neutropenia, Eclabion, Lymphopenia	OMIM:616395
Codas Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse...	OMIM:600373
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thin upper lip vermilion, Sandal gap, Depressed nasal bridge, Dental crowding, Tapered finger, Mi...	OMIM:617061
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Broad nasal tip, Open mouth, Flexion contracture, Recurrent upper respirat...	ORPHA:391372
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t...	OMIM:183900
Aspartylglucosaminuria	Mandibular prognathia, Hepatomegaly, Abnormal morphology of ulna, Joint stiffness, Abnormality of...	ORPHA:93
Fibrochondrogenesis 1	Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v...	OMIM:228520
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Hepatomegaly, Depressed nasal bridge, Anteverted nares, Denta...	OMIM:619005
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis, Hip dysplasia, Tongue fasciculations, Narrow mouth	OMIM:620007
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Sparse eyelashes, Abnormal dental enamel morphology, Supernumerary nip...	ORPHA:1071
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Bowi...	ORPHA:1855
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Recurrent fractures, Absent ossification of calvaria, Mult...	OMIM:166210
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Abnormality of the tonsils, Abnormality of neut...	ORPHA:229717
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Jaundice, Cho...	ORPHA:59303
Gm1 Gangliosidosis	Mandibular prognathia, Coarse metaphyseal trabecularization, Depressed nasal bridge, Camptodactyl...	ORPHA:354
Immunodeficiency 27B	Generalized lymphadenopathy, Salmonella osteomyelitis, Osteomyelitis	OMIM:615978
Infantile Liver Failure Syndrome 1	Long toe, Hepatomegaly, Macrocytic anemia, Acute hepatic failure, Elevated hepatic transaminase, ...	OMIM:615438
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Joint stiffness, Metaphyseal widening, Dental malocclusion, Coxa va...	OMIM:608940
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormal acetabulum morpholog...	OMIM:618641
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endpla...	OMIM:143095
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Gm1-Gangliosidosis, Type I	Hepatomegaly, Short neck, Joint stiffness, Kyphosis, Splenomegaly, Vacuolated lymphocytes, Depres...	OMIM:230500
Macrophage Activation Syndrome	Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Ju...	ORPHA:158061
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Cold Agglutinin Disease	Back pain, Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:56425
Trichorhinophalangeal Syndrome Type 2	Thin upper lip vermilion, Abnormality of the dentition, Avascular necrosis of the capital femoral...	ORPHA:502
Pachyonychia Congenita 2	Sparse scalp hair, Dry hair, Natal tooth, Angular cheilitis, Sparse eyebrow, Palmoplantar hyperhi...	OMIM:167210
Diamond-Blackfan Anemia 11	Bilateral cleft palate, Hypoplasia of the ulna, Anemia of inadequate production, Absent thumb, Un...	OMIM:614900
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hyp...	OMIM:616367
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Hepatomegaly	ORPHA:79238
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Congenital Disorder Of Glycosylation, Type Ie	Short palm, Hepatomegaly, Elevated hepatic transaminase, Depressed nasal bridge, Ankle flexion co...	OMIM:608799
Congenital Myopathy 22B, Severe Fetal	Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Flexio...	OMIM:620369
8P Inverted Duplication/Deletion Syndrome	Anteverted nares, Short neck, Micrognathia, Long fingers, High, narrow palate, Hip dislocation, W...	ORPHA:96092
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ...	ORPHA:83
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Hypopl...	ORPHA:33364
Trisomy 20P	Short neck, Micrognathia, Abnormal form of the vertebral bodies, Reduced bone mineral density, Do...	ORPHA:261318
Kyphomelic Dysplasia	Bowing of the long bones, Micromelia, Joint stiffness, Micrognathia, Missing ribs, Limitation of ...	ORPHA:1801
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets	OMIM:612089
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Limitation of join...	OMIM:313400
Familial Isolated Hypoparathyroidism	Hypoparathyroidism, Abnormal dental enamel morphology, Delayed eruption of teeth	ORPHA:2238
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Sinusitis, Splenomegaly, Thrombocytopenia, Flexion contracture, Lymphadenopathy, Ar...	OMIM:617591
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta	OMIM:615905
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Depressed n...	ORPHA:163966
Stickler Syndrome	Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge, Abnormal form of ...	ORPHA:828
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Achilles tendon contracture, Dental maloccl...	OMIM:619719
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Long nose, Downtur...	OMIM:618590
Immunodeficiency, Common Variable, 2	Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Recurrent sinusitis	OMIM:240500
Fibular Aplasia-Complex Brachydactyly Syndrome	Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Abnorma...	ORPHA:2639
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Sinusitis, Recurrent bacterial upper respiratory tract infections, Rhinitis, B lymphocytopenia, R...	ORPHA:70593
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Mesenteric cyst, Thin upper lip vermilion, Overlapping toe, Anteverted nares, Depressed...	OMIM:618316
Pseudohypoparathyroidism Type 1A	Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Broad 1st metacarpal, S...	ORPHA:79443
Prolidase Deficiency	Hepatomegaly, Arachnodactyly, Depressed nasal bridge, Micrognathia, Carious teeth, Splenomegaly, ...	ORPHA:742
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Abnormality of neutr...	ORPHA:235
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Hepatomegaly, Limb joint contracture, Tapered finger, Splenomegaly, Mi...	OMIM:301072
Borjeson-Forssman-Lehmann Syndrome	Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Short toe, Shortenin...	OMIM:301900
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Knee flexion contracture, ...	OMIM:615290
Hypophosphatasia, Infantile	Craniosynostosis, Bowing of the legs, Abnormality of the dentition, Micromelia, Increased suscept...	OMIM:241500
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Nail dystrophy, Hypodontia	OMIM:616029
Lathosterolosis	Abnormal thoracic spine morphology, Hepatomegaly, Toe syndactyly, Anteverted nares, Micrognathia,...	ORPHA:46059
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal dysplasia, Narrow nose, Short iliac bones, Metaphyseal sclerosis, Autoimmune thromboc...	OMIM:607944
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph...	ORPHA:331206
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Finger syndactyly, Micrognathia, Short nose, Spina bifida occulta	ORPHA:1514
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Recurrent fractures, ...	OMIM:231070
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Frank-Ter Haar Syndrome	Osteopenia, Micrognathia, High palate, Short palm, Short phalanx of finger, Cortical irregularity...	OMIM:249420
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets, Large for gestational age	OMIM:616026
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, 2-3 toe syndactyly, Downturne...	OMIM:613443
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Syndactyly, Depressed nasal bridge, Short neck, Open mouth, Bulbous nose, ...	ORPHA:369891
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru...	OMIM:137550
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:609981
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Underdeveloped nasal alae, Abnormality of the dentition, Abnormality o...	ORPHA:2315
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Recurrent aphthous stomatitis, Neutropenia, Monocytopenia...	ORPHA:2688
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Hepatomegaly	OMIM:616622
Gaucher Disease Type 2	Splenomegaly, Flexion contracture, Hepatomegaly	ORPHA:77260
Familial Adenomatous Polyposis 1	Eruption failure, Supernumerary tooth, Carious teeth, Odontoma	OMIM:175100
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia	OMIM:616873
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Epiphys...	OMIM:256550
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Hyperextensibility of the finger joints, Hepatomegaly, Delayed eruption of...	OMIM:135500
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Anteverted nares, Depressed nasal bridge, Abnormality of the ...	OMIM:615398
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T...	ORPHA:494444
Cockayne Syndrome Type 2	Mandibular prognathia, Hepatomegaly, Delayed eruption of primary teeth, Kyphosis, Flexion contrac...	ORPHA:90322
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Agammaglobulinemia 6, Autosomal Recessive	B lymphocytopenia, Chronic sinusitis, Abnormal T cell morphology	OMIM:612692
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depress...	ORPHA:93258
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly	OMIM:611263
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Micrognathia, Osteoporosis, Concave nasal ridge, Clinodactyly of the 5...	ORPHA:73272
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp...	OMIM:616828
Immunodeficiency 10	Amelogenesis imperfecta, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Bicoronal synostosis, Everted upper lip vermilion, Sandal gap, Rocker bottom foot,...	OMIM:619951
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Epistaxis, Elevated circulating aspartate aminotransferase concen...	OMIM:614034
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Recurrent u...	OMIM:616100
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Short palm, Thin upper lip vermilion, Depressed nasal bridge, Convex nasal ridge, Patchy osteoscl...	OMIM:241410
Intellectual Disability, Birk-Barel Type	Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow palate, Incisor ma...	ORPHA:166108
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Depressed nasal bridge, Sclerotic scapulae, 2-3 finger syndact...	OMIM:269500
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Absent frontal sinuses, Micrognathia, Downturned corners of mouth, Period...	ORPHA:955
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Intermittent jaundice, Reticulocytosis	OMIM:179700
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Sacral dimple, Anteverted nares, Depressed nasal bridge, Micrognathia, Wide anterior fontanel, Ky...	OMIM:618272
Robinow Syndrome, Autosomal Recessive 2	Broad hallux, Sandal gap, Anteverted nares, Broad nasal tip, Micrognathia, Cleft soft palate, Abn...	OMIM:618529
Cystinosis	Failure to thrive, Rickets	ORPHA:213
Cohen Syndrome	Short metacarpal, Tapered finger, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, S...	OMIM:216550
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Tapered finger, Flexion contracture, Hyperextensibility at wrists, Hip dyspl...	ORPHA:544503
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, L...	OMIM:615866
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Hepatomegaly, Thin upper lip vermilion, Depressed nasal bridge, Thoracolumbar scolios...	OMIM:610199
Peroxisome Biogenesis Disorder 12A (Zellweger)	Wide anterior fontanel, Prominence of the premaxilla, Abnormal cortical bone morphology	OMIM:614886
Distal Duplication 5Q	Hypoplasia of the ulna, Prominent nasal bridge, Craniosynostosis, Absent thumb, Micrognathia, Car...	ORPHA:96097
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:619868
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Congenital hip dislocation, Depressed nasal bri...	OMIM:268400
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Thin upper lip vermilion, Anteverted nares, Velopharyngeal insufficiency, Vertebral c...	OMIM:614701
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Abnorm...	OMIM:214500
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:278000
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Persistence of primary teeth, Recurrent upper respiratory tract infections, Pers...	OMIM:619769
Immunodeficiency 70	Decreased proportion of CD4-positive helper T cells, B lymphocytopenia, Recurrent sinusitis	OMIM:618969
Kenny-Caffey Syndrome, Type 1	Carious teeth, Small hand, Short foot, Slender long bone, Short palm, Decreased skull ossificatio...	OMIM:244460
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Prominent nasal bridge, Tapered finge...	ORPHA:2215
Mucopolysaccharidosis, Type Vii	Short neck, Flexion contracture, Narrow greater sciatic notch, Widely spaced teeth, Anterior beak...	OMIM:253220
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Hypoplastic nasal bridge, Hypoplastic scapulae, Hypoplast...	OMIM:200600
Mietens Syndrome	Hypoplasia of the ulna, Wide nose, Coxa valga, Metatarsus adductus, Avascular necrosis of the cap...	ORPHA:2557
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tapered finger, Hypoplasia of the maxilla, Long fingers, Flexion contracture, 2-3 toe syndactyly,...	OMIM:218000
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative...	OMIM:619463
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Hyperextensibility of the finger joints, Smooth philtrum, Dental crowding,...	OMIM:309583
Fanconi-Bickel Syndrome	Osteopenia, Bowing of the long bones, Failure to thrive, Rickets	ORPHA:2088
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ...	OMIM:101200
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,...	ORPHA:352540
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Depressed nasal bridge,...	ORPHA:2062
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Schimke Immunoosseous Dysplasia	Osteopenia, Pancytopenia, Lumbar hyperlordosis, Depressed nasal bridge, Ovoid vertebral bodies, S...	OMIM:242900
Desmosterolosis	Rhizomelia, Generalized osteosclerosis, Joint contracture of the hand, Bilateral talipes equinova...	OMIM:602398
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Tapered finger, High, narrow palate, Bulbous nose, 2-3 toe syndactyly, Abnormal in...	ORPHA:485405
Mucopolysaccharidosis Type 7	Anterior beaking of lower thoracic vertebrae, Joint stiffness, Metatarsus adductus, Short neck, S...	ORPHA:584
Congenital Heart Defects And Skeletal Malformations Syndrome	Smooth philtrum, Arachnodactyly, Sandal gap, Narrow nose, Dental crowding, Long nose, Kyphosis, C...	OMIM:617602
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Narrow nasal bridge, Broad hallux phalanx, Mandibular prognathia, Toe syndactyly, Metatarsus valg...	ORPHA:3082
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormal metacarpophalangeal joint morphology, Abnormality of the temporomandibular joint, Abnorm...	ORPHA:85408
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis	OMIM:300635
Intellectual Developmental Disorder, X-Linked 30	Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, High palate, Prominent finger...	OMIM:300558
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Micrognathia...	ORPHA:536471
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Thin upper lip vermilion, Brachydactyly, Joint stiffness, Anosmia, Genu valgum, Hypoplasia of the...	ORPHA:1295
Oculodentodigital Dysplasia	Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Microdontia, Prematur...	OMIM:164200
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Micrognathia, High, narrow palate, Supernumerary tooth, Small hand, Oligodonti...	ORPHA:1787
Wieacker-Wolff Syndrome	Anteverted nares, Proximal placement of thumb, Short neck, Hyperlordosis, Kyphosis, Micrognathia,...	OMIM:314580
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Cervical kyphosis, Micrognathia, Abnormal tibia morpholo...	ORPHA:666
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Kyphosis, Lumbar hyperlordosis, Hip dislocation, Scoliosis	OMIM:616756
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Osteoarthritis, Abnormal femur mo...	ORPHA:429
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Micrognathia, Underdeveloped nasal alae, Kyphosis, Deep philtrum, Depressed nasal ridge, Wide nas...	ORPHA:77300
Harel-Yoon Syndrome	Mandibular prognathia, Micrognathia, Hip dysplasia, Scoliosis, Short nose	OMIM:617183
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bow...	OMIM:602111
Gaucher Disease	Osteopenia, Hepatomegaly, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent ...	ORPHA:355
Meckel Syndrome, Type 8	Short neck, Cleft upper lip, Depressed nasal ridge, Cleft palate, Polydactyly, Short nose, Enlarg...	OMIM:613885
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Micrognathia, High palate, Short philtrum, Clinodactyly of the 5th finger, Hepatomegaly, Antevert...	OMIM:618443
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
15Q24 Microdeletion Syndrome	Joint laxity, Depressed nasal bridge, Prominent nasal bridge, Proximal placement of thumb, Abnorm...	ORPHA:94065
Acute Erythroid Leukemia	Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia	ORPHA:318
Cystic Fibrosis	Osteopenia, Sinusitis, Nasal polyposis, Osteoporosis, Abnormality of the liver, Cirrhosis, Exocri...	ORPHA:586
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Short Fifth Metacarpals-Insulin Resistance Syndrome	Nasal congestion, Splenomegaly, Spherocytosis, Short 5th metacarpal	ORPHA:66518
Thoracomelic Dysplasia	Abnormal fibula morphology, Genu valgum, Joint hyperflexibility, Abnormal pelvic girdle bone morp...	ORPHA:1803
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia, Recurrent sinusitis	ORPHA:217390
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Short neck, Micrognathia, Orofacial cleft, Downturned co...	OMIM:180700
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Hallermann-Streiff Syndrome	Natal tooth, Recurrent fractures, Tracheomalacia, Micrognathia, Abnormality of the dentition, Hig...	ORPHA:2108
Agammaglobulinemia 2, Autosomal Recessive	Absent circulating B cells, Abnormal T cell morphology	OMIM:613500
Smith-Kingsmore Syndrome	Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Short proximal phalanx of fing...	OMIM:616638
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, T...	OMIM:619644
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Protrusio acetabuli, Recurrent fractures, Kyphoscoliosis, Coxa vara, In...	OMIM:610968
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Short neck, Postaxial hand polydactyly, Hepa...	OMIM:200995
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Zimmermann-Laband Syndrome 2	Underdeveloped nasal alae, Bifid nasal tip, Kyphosis, Short neck, Deep philtrum, Gingival overgro...	OMIM:616455
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Open mouth, Short nose, Joint...	OMIM:300143
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Ectopi...	ORPHA:2919
Bone Marrow Failure Syndrome 3	Congenital hip dislocation, Aplastic anemia, Micrognathia, Pancreatic steatosis, Oral ulcer, Redu...	OMIM:617052
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Overlapping toe, Choa...	OMIM:619148
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Anemia	ORPHA:75563
Nabais Sa-De Vries Syndrome, Type 1	Sacral dimple, Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Prolonged neonatal j...	OMIM:618828
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Prominent nose, Underdeveloped nasal alae, Wide nasal bridge, Coxa vara, Tooth agenes...	ORPHA:2637
Sotos Syndrome	Joint laxity, Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Broad nasal tip, H...	OMIM:117550
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Coxa vara, Tibial bowing, Reduced bone mineral density, Iron deficiency anemia, High palate, Abno...	ORPHA:93315
Mandibuloacral Dysplasia With Type B Lipodystrophy	Dental crowding, Narrow nasal ridge, Micrognathia, Narrow mouth, Flexion contracture, Premature l...	OMIM:608612
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Wide nose, Short neck, Thrombocytopenia, Metaphyseal widening, Flexion contracture,...	OMIM:617303
Muckle-Wells Syndrome	Hepatomegaly, Camptodactyly of finger, Abnormality of the nose, Splenomegaly, Abnormal palate mor...	ORPHA:575
Acute Promyelocytic Leukemia	Pancytopenia, Epistaxis, Thrombocytopenia, Leukocytosis, Gingival overgrowth, Lymphadenopathy, Le...	ORPHA:520
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Downturned corners of mouth, Wide mouth, Widely spaced teeth, Everted l...	OMIM:618067
Hallermann-Streiff Syndrome	Natal tooth, Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, S...	OMIM:234100
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Splenomegaly, Advanced eruption of teeth, Hepatic steatosis, Pancreatitis	ORPHA:2348
Oculoskeletodental Syndrome	Hepatomegaly, Splenomegaly, Elbow flexion contracture, Wide nasal bridge, Macroglossia, Oligodont...	OMIM:618440
Al-Raqad Syndrome	Joint laxity, Thin upper lip vermilion, Sandal gap, Narrow mouth, Short nose, Brachydactyly	OMIM:616459
Gardner Syndrome	Neoplasm of the pancreas, Abnormality of the dentition, Supernumerary tooth, Odontoma, Multiple u...	ORPHA:79665
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia	ORPHA:309031
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy...	ORPHA:64743
Short-Rib Thoracic Dysplasia 12	Natal tooth, Brachydactyly, Median cleft lip, Hypoplastic scapulae, Hepatomegaly, Hamartoma of to...	OMIM:269860
Hemochromatosis, Type 4	Hepatomegaly, Osteoarthritis, Cirrhosis, Hepatic steatosis, Anemia	OMIM:606069
Subaortic Stenosis-Short Stature Syndrome	Anteverted nares, Short neck, Micrognathia, Kyphosis, Biliary tract abnormality, Scoliosis, Micro...	ORPHA:3191
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia, Arthritis, Coombs-...	OMIM:304790
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Persistence of primary teeth, Carious teeth, ...	ORPHA:93325
Cornelia De Lange Syndrome 1	Proximal placement of thumb, Micrognathia, Micromelia, High, narrow palate, Downturned corners of...	OMIM:122470
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Scoliosis	OMIM:617087
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Brachydactyly, Sandal gap, Broad hallux, Conical tooth, Persistence of primary teeth, Dental malo...	OMIM:618727
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,...	ORPHA:86843
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of...	OMIM:615630
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral density, Incre...	OMIM:166220
Hypomelanosis Of Ito	Syndactyly, Kyphosis, Thick lower lip vermilion, Irregularly spaced teeth, Hand polydactyly, Scol...	OMIM:300337
Peroxisome Biogenesis Disorder 7A (Zellweger)	Hepatomegaly, Wide anterior fontanel, Jaundice, Epiphyseal stippling, High palate, Long philtrum	OMIM:614872
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Cli...	OMIM:300373
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G...	OMIM:300106
Sialuria	Hepatomegaly, Thin upper lip vermilion, Splenomegaly, Wide nasal bridge, 2-3 toe syndactyly, Macr...	OMIM:269921
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Hepatomegaly, Neutrophilia, Severe periodontitis, Overlapping toe, Depress...	ORPHA:99843
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Tapered finger, Thick low...	OMIM:619854
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Wide nose, Elevated circulating aspartate aminotransferase concentration, Short nec...	OMIM:608779
Facial Paresis, Hereditary Congenital, 3	Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Open mouth, D...	OMIM:614744
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S...	OMIM:608728
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Short palm, Wide nose, Prominent nasal bridge, Microg...	ORPHA:85201
Neuronal Intestinal Pseudoobstruction	Natal tooth	ORPHA:99811
Momo Syndrome	Delayed eruption of teeth, Short neck, Thick lower lip vermilion, Dental malocclusion, Wide nasal...	OMIM:157980
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia...	OMIM:616300
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Cholangitis, Leukocytosis, Decreased proportion of class-switched me...	OMIM:619652
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Micrognathia, Flexion contrac...	ORPHA:1865
Short Syndrome	Joint laxity, Enlarged epiphyses, Delayed eruption of teeth, Underdeveloped nasal alae, Micrognat...	OMIM:269880
Fountain Syndrome	Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Kyphosis,...	ORPHA:3219
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Th...	ORPHA:158057
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcification of dental enamel...	ORPHA:169090
Pallister-Hall-Like Syndrome	Toe syndactyly, Depressed nasal bridge, Median cleft lip, Micrognathia, Postaxial hand polydactyl...	OMIM:241800
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally formed scapulae, R...	ORPHA:140
Robinow Syndrome, Autosomal Dominant 3	Short neck, Micrognathia, Downturned corners of mouth, Short phalanx of finger, Syndactyly, Antev...	OMIM:616894
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Abnormal oral mucosa morphology, Micromelia, Abnormality of the dentit...	ORPHA:289
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Joint hypermob...	OMIM:300990
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Joint laxity, Arachnodactyly, Dental crowding, Narrow mouth, Long philtrum, High palate, Camptoda...	OMIM:615539
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Andersen-Tawil Syndrome	Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathi...	ORPHA:37553
Histiocytosis-Lymphadenopathy Plus Syndrome	Cardiomegaly, Joint contracture of the 5th finger, Pancreatic hypoplasia, Hepatomegaly, Anteverte...	OMIM:602782
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Arachnodactyly, Micromelia, Anteverted nares, Genu valgum, Joint hyperflexibility, Hi...	ORPHA:1035
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Thin upper lip vermilion, Depressed nasal bridge, Br...	OMIM:232400
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Thin lower lip vermilion, ...	ORPHA:221139
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Hepatomegaly, Abnormality of the philtrum, Micromelia, Aplasia/H...	ORPHA:1597
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Camptodactyly of finger, Micrognathia, Limitation of joint mobility, Symphalangism affecting the ...	ORPHA:2547
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Recurrent fractures, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Free Sialic Acid Storage Disease	Hepatomegaly, Splenomegaly, Ascites, Reduced bone mineral density	ORPHA:834
Hemochromatosis, Type 2A	Splenomegaly, Arthritis, Cirrhosis, Hepatomegaly	OMIM:602390
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Limitation of joint mobility, Congenital foot contractures, Scoliosis, Clinodactyly of ...	ORPHA:3454
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce...	OMIM:619705
Mucolipidosis Ii Alpha/Beta	Osteopenia, Cardiomegaly, Micrognathia, Metaphyseal widening, Progressive alveolar ridge hypertro...	OMIM:252500
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Hypopl...	OMIM:609616
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Depressed nasal bridge, Anteverted nares, Micrognathia, Protruding tongue, T lymphocyt...	OMIM:242860
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cupid's bow, Coxa valga, Microgna...	OMIM:619833
Congenital Rubella Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Anemia, Abnormal metaphysis morphology, Thrombocytopenia	ORPHA:290
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Sandal gap, Tapered...	OMIM:618430
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Postaxial polydactyly, Microg...	ORPHA:404440
Schaaf-Yang Syndrome	Mandibular prognathia, Abnormality of the philtrum, Rocker bottom foot, Tapered finger, Kyphosis,...	OMIM:615547
Mucopolysaccharidosis Type 1	Sinusitis, Depressed nasal bridge, Abnormality of the tonsils, Joint stiffness, Abnormal nasal mo...	ORPHA:579
Weill-Marchesani Syndrome 1	Joint stiffness, Broad metatarsal, Hypoplasia of the maxilla, Narrow palate, Broad phalanges of t...	OMIM:277600
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly, Depressed nasal bridge, Thrombocytopenia, High palate, Bone marrow hypocellularity, N...	OMIM:614520
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Joint laxity, Mandibular prognathia, Sandal gap, Depressed nasal bridge, Kyphosis, Bulbous nose, ...	OMIM:300354
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Prominent nose, Micrognathia, Hemivertebrae, Depressed nasal ridge, Downtu...	OMIM:156200
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Autosomal Dominant Omodysplasia	Short humerus, Depressed nasal bridge, Micrognathia, Short palm, Malar flattening, Short nose, Sh...	ORPHA:93328
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Shorten...	OMIM:615716
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta...	OMIM:214900
Mucolipidosis Iii Gamma	Joint stiffness, Flat capital femoral epiphysis, Short neck, Hyperlordosis, Kyphosis, Genu valgum...	OMIM:252605
Emanuel Syndrome	Delayed eruption of teeth, Broad jaw, Sacral dimple, Multiple joint contractures, Congenital hip ...	ORPHA:96170
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Prolonged neonatal jaundice, Tapered finger	OMIM:618512
Gomez-Lopez-Hernandez Syndrome	Anteverted nares, Craniosynostosis, Wide anterior fontanel, Thin vermilion border, High palate, M...	OMIM:601853
Fucosidosis	Cervical platyspondyly, Hepatomegaly, Wide nose, Lumbar hyperlordosis, Depressed nasal bridge, Ov...	OMIM:230000
Cardioacrofacial Dysplasia 2	Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Deep p...	OMIM:619143
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Kyphosis, Bulbous nose...	ORPHA:261144
Hermansky-Pudlak Syndrome 2	Thin upper lip vermilion, Absent platelet dense granules, Hepatomegaly, Carious teeth, Splenomega...	OMIM:608233
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Thrombocytosis, Fa...	OMIM:212750
Achondrogenesis, Type Ib	Micromelia, Hypoplastic ilia, Short ribs, Absent or minimally ossified vertebral bodies, Malar fl...	OMIM:600972
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Tapered finger, Micrognathia, Kyphosis, Wide nasal bridge, Joint hyperflexibility, Hi...	ORPHA:2479
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Abnormality of the dentition, Carious teeth, Small hand, Ab...	ORPHA:1786
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Neutropenia, Clinod...	ORPHA:193
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Ascites, Anemia	ORPHA:75233
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:79312
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Arachnodactyly, Kyphosis, High, narrow palate, Joint hyperflexibility, Shoulder dislocation, Scol...	ORPHA:2181
Cartilage-Hair Hypoplasia	Joint laxity, Metaphyseal dysplasia, Lymphopenia, Lumbar hyperlordosis, Macrocytic anemia, Impair...	OMIM:250250
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis, Thin upper lip vermilion	OMIM:609384
Cutis Laxa, Autosomal Recessive, Type Iia	Congenital hip dislocation, Anteverted nares, Carious teeth, Wide anterior fontanel, High palate,...	OMIM:219200
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Narrow nasal ridge, Micrognathia, Splenomegaly, Pancreatitis, Osteolytic defects of...	ORPHA:280365
Atelosteogenesis, Type I	Short neck, Micrognathia, Short metatarsal, Tibial bowing, Vertebral hypoplasia, Short metacarpal...	OMIM:108720
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Median cleft lip, Absent thumb, Aplasia/Hypoplasia of the dist...	ORPHA:1234
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Recurrent fractures, Rocker bottom foot, Micrognathia, Prominent nose, Tibial bowi...	ORPHA:453510
Fanconi Anemia, Complementation Group R	Radial dysplasia, Absent thumb, Agenesis of permanent teeth, Bone marrow hypocellularity, Scolios...	OMIM:617244
Harrod Syndrome	Arachnodactyly, Long nose, Kyphosis, Dental malocclusion, Abnormal shoulder morphology, Joint hyp...	ORPHA:2115
Non-Distal Duplication 13Q	Arachnodactyly, Micrognathia, Abnormality of the dentition, Postaxial hand polydactyly, Thin verm...	ORPHA:1702
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Hip contracture, Generalized lymphadenopathy, Ankle flexion contracture, Knee flexion contracture...	OMIM:620232
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Short neck, Micrognathia, Orofacial cleft, Downturned corners of mout...	ORPHA:1507
Harderoporphyria	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice	OMIM:618892
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Abnormal dental morphology, Supernume...	ORPHA:3353
Familial Papillary Or Follicular Thyroid Carcinoma	Recurrent fractures, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Fg Syndrome 5	Depressed nasal bridge, Anteverted nares, Diastema, Long philtrum, Short nose	OMIM:300581
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density	OMIM:259900
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Calvarial osteosclerosis, Metacarpal periosteal thickening	OMIM:617994
4Q21 Microdeletion Syndrome	Toe syndactyly, Depressed nasal bridge, Short neck, Abnormality of the dentition, Kyphosis, Small...	ORPHA:238750
Pachyonychia Congenita	Natal tooth, Alopecia, Angular cheilitis, Palmoplantar hyperhidrosis, Nail dystrophy, Advanced er...	ORPHA:2309
Osteogenesis Imperfecta, Type Xvi	Microretrognathia, Angulated humerus, Bowing of the long bones, Osteopenia, Rhizomelia, Recurrent...	OMIM:616229
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Joint laxity, Anteverted nares, Monkey wrench femoral neck, Micromelia, Depres...	OMIM:618870
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Musculocontractural Ehlers-Danlos Syndrome	Microretrognathia, Thin upper lip vermilion, Cervical kyphosis, Craniosynostosis, Tapered finger,...	ORPHA:2953
19P13.12 Microdeletion Syndrome	Short palm, Finger syndactyly, Narrow nasal bridge, Sandal gap, Anteverted nares, Craniosynostosi...	ORPHA:254346
Geleophysic Dysplasia 2	Hepatomegaly, Thin upper lip vermilion, Ovoid vertebral bodies, Joint stiffness, Limitation of jo...	OMIM:614185
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Metaphyseal widening, Limit...	OMIM:224400
Familial Benign Copper Deficiency	Deep philtrum, Diaphyseal thickening, Wide nasal bridge, Anemia	ORPHA:1551
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Diastema, Postaxial polydactyl...	OMIM:619142
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Kyphosis...	ORPHA:2916
Masa Syndrome	Kyphosis, Hyperlordosis, Adducted thumb	OMIM:303350
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Anteverted nares, Depressed nasal bridge, Sh...	OMIM:115150
Cole-Carpenter Syndrome 2	Osteopenia, Microretrognathia, Recurrent fractures, Kyphosis, Platyspondyly, High palate, Lambdoi...	OMIM:616294
Hurler Syndrome	Hepatomegaly, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Short neck, Abno...	ORPHA:93473
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Increased density of long bones, Tibial bowing, Hypoplasia of fi...	OMIM:269150
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Duplication of thumb phalanx, Short thumb, Anemia, Bone mar...	OMIM:616435
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Fine hair	OMIM:272300
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Recurrent upper respiratory tract infections, Anemia, Hepatomegaly	OMIM:620296
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis	OMIM:617404
Emanuel Syndrome	Broad jaw, Sacral dimple, Congenital hip dislocation, Dental crowding, Delayed eruption of primar...	OMIM:609029
Opsismodysplasia	Short metacarpal, Anteverted nares, Depressed nasal bridge, Short neck, Hypoplasia of the odontoi...	OMIM:258480
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Mandibular prognathia, Joint laxity, Rhizomelia, Metaphyseal widening, Irregular epiphyses, Absen...	OMIM:612813
Nablus Mask-Like Facial Syndrome	Short neck, Hypoplasia of the maxilla, High palate, Anteverted nares, Depressed nasal bridge, Sho...	OMIM:608156
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Limb undergrowth, Limited elbow extension, Bowing of the legs	ORPHA:156728
Bent Bone Dysplasia Syndrome 2	Osteopenia, Hepatomegaly, Bowed humerus, Depressed nasal bridge, Short neck, Ulnar bowing, Femora...	OMIM:620076
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Distal widening of m...	OMIM:602535
Glutamine Deficiency, Congenital	Depressed nasal bridge, Anteverted nares, Flexion contracture, Wide nasal bridge, Thin vermilion ...	OMIM:610015
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Postaxial hand polydactyly, Long philtrum, Short nose, Abnormal palate morphology	ORPHA:1389
Essential Thrombocythemia	Myelofibrosis, Splenomegaly, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Wieacker-Wolff Syndrome, Female-Restricted	Microretrognathia, Hip contracture, Anteverted nares, Rocker bottom foot, Short neck, Kyphosis, A...	OMIM:301041
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic...	ORPHA:198
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Micrognathia, Flexion contracture, Osteoporosis, Scoliosis, Short nose	OMIM:615851
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Sandal gap, Micromelia, Hyposegmentation of neutrophil nuclei, Thin ver...	OMIM:614800
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal metaphysis morphology, Abnormal form of the vertebral bodies	ORPHA:1354
Developmental And Epileptic Encephalopathy 41	Delayed eruption of teeth, Flexion contracture, Kyphoscoliosis	OMIM:617105
Marshall Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Abnormality of...	ORPHA:560
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Depressed nasal bridge, Short nose, Polydactyly, Hypoplastic ischia	OMIM:616910
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,...	ORPHA:93259
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Abnormal dental enamel ...	ORPHA:464
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Tapered finger, Broa...	OMIM:239300
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Micrognathia, Cleft upper lip, Absent thumb, Hypoplasia of the radiu...	OMIM:602418
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Benign Schwannoma	Abnormality of the liver, Nasal polyposis, Abnormal parotid gland morphology, Abnormal fibula mor...	ORPHA:252164
Jeune Syndrome	Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Thin bony cortex, Thick upper lip vermilion, Thick lower lip vermilion, Br...	OMIM:619727
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing, Lung abscess, B lymphocytopenia, Reduced natural killer ce...	OMIM:241600
Gm1-Gangliosidosis, Type Iii	Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypo...	OMIM:230650
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hepatomegaly, Chronic neutropenia, Epistaxis, Carious teeth, Osteoporosis, Oral ulcer...	ORPHA:79259
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Frontal open bite, Micrognathia, Wide anterior fontanel, Short toe, Gin...	OMIM:225410
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Aplasia/Hypoplasia of the ribs, Iliac crest serr...	ORPHA:168549
Distal Deletion 10Q	Prominent nose, Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, High palate, Clinod...	ORPHA:96148
Flynn-Aird Syndrome	Joint stiffness, Carious teeth, Kyphosis, Bone cyst, Scoliosis	ORPHA:2047
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Abnormal carp...	ORPHA:85166
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Natal tooth, Depressed nasal bridge, Postaxial polydactyly, Short neck, Micro...	OMIM:617925
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Osteoporosis, Cirrhosis,...	OMIM:235200
Short Stature, Microcephaly, And Endocrine Dysfunction	Prominent nasal bridge, Broad nasal tip, Long nose, Tooth malposition, Limb undergrowth, Clinodac...	OMIM:616541
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m...	ORPHA:1422
Macrocephaly-Intellectual Disability-Autism Syndrome	Depressed nasal bridge, Preaxial hand polydactyly, Foot polydactyly, Short nose, Hepatic steatosis	ORPHA:210548
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly	ORPHA:163596
Robinow Syndrome	Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Syndacty...	ORPHA:97360
Microphthalmia, Lenz Type	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger...	ORPHA:568
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Micromelia, Fused teeth, High palate, Hepatic fibrosis, Microdontia, Synd...	OMIM:614091
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi...	OMIM:225500
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Tetrasomy 18P	Thin vermilion border, Scoliosis, Narrow mouth, Short nose, Long philtrum	ORPHA:3307
Rhabdoid Tumor	Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy	ORPHA:69077
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndact...	ORPHA:87
Koolen-De Vries Syndrome	Vertebral fusion, Arachnodactyly, Prominent nasal bridge, Abnormal dental enamel morphology, Unde...	ORPHA:96169
Short Stature With Microcephaly And Distinctive Facies	Osteopenia, Syndactyly, Microretrognathia, Anteverted nares, Depressed nasal bridge, Proximal pla...	OMIM:615789
H Syndrome	Hallux valgus, Recurrent fractures, Cleft upper lip, Microcytic anemia, Recurrent pharyngitis, Gi...	ORPHA:168569
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Choanal atresia, Short thumb, Osteoporosis, Cleft palate, Increase...	OMIM:612562
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure	ORPHA:75234
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Prominent nasal bridge, Camptodactyly of finger, Short neck, Underdeveloped nasal alae, Micrognat...	ORPHA:2083
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Sparse scalp hair, Natal tooth, Sparse eyelashes, Sagittal craniosynostosis, Micrognathia, Sparse...	OMIM:616901
Joubert Syndrome 37	Hepatomegaly, Wide nose, Lumbar hyperlordosis, Anteverted nares, Postaxial polydactyly, Wide nasa...	OMIM:619185
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Abnormality of the dentition, Osteoporosis, Leukopenia, Hepatic fi...	OMIM:613989
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Congenital hip dislocation, Femur fracture, Multiple joint contractures, Micrognat...	OMIM:618291
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Downturned corners of mouth, Everted lower lip vermilion, Widely spaced t...	OMIM:617865
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Hepatomegaly, Anteverted nares, Depressed nasal bridge, Limited elbow movem...	OMIM:617809
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, Abnormal pelvic ...	ORPHA:2928
Graft Versus Host Disease	Dupuytren contracture, Limited elbow movement, Trismus, Jaundice, Stiff interphalangeal joints, O...	ORPHA:39812
Lead Poisoning	Delayed eruption of teeth, Cranial hyperostosis, Imbalanced hemoglobin synthesis, Abnormal T cell...	ORPHA:330015
5Q14.3 Microdeletion Syndrome	Toe syndactyly, Anteverted nares, Short philtrum, Short nose, Open mouth	ORPHA:228384
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Spl...	ORPHA:398124
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Pure red cell aplasia, Autoimmune thrombocytopenia, Splen...	OMIM:613179
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Thoracic scoliosis, Pilonidal sinus, Anteverted nares, Depressed nasal brid...	OMIM:252940
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Mandibular prognathia, Kyphosis, Cleft palate, Short philtrum, Scoliosis	ORPHA:85317
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Reduced bone mineral density, Long fibula, Abnormal metaphysis morphology, Lymphopenia, Anemia	ORPHA:935
Nance-Horan Syndrome	Mandibular prognathia, Short metacarpal, Supernumerary tooth, Abnormality of the dentition	ORPHA:627
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Mandibular prognathia, Foot joint contracture, Delay...	ORPHA:90321
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphoscoliosis, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Fle...	OMIM:618484
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Hypoplasia of the...	ORPHA:3145
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Hepatomegaly, Erythrodontia, Splenomegaly, Jaundice, Osteolysis, Pa...	OMIM:263700
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Anteverted nares, Short neck, Cleft upper lip, Duplication of phalanx o...	OMIM:243310
Trisomy 12P	Micrognathia, Short neck, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Everted l...	ORPHA:1699
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Prominent nasal bridge, Hypoplasia of the maxilla, Kyphosis, High palate, ...	OMIM:300676
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures	ORPHA:85193
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Hepatomegaly, Dental crowding, Down-sloping shoulders, Narrow nasal ridge, Coxa valga...	OMIM:248370
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
3C Syndrome	Finger syndactyly, Depressed nasal bridge, Short neck, Micrognathia, Kyphosis, High, narrow palat...	ORPHA:7
Thanatophoric Dysplasia	Depressed nasal bridge, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hy...	ORPHA:2655
Fetal Alcohol Syndrome	Thin upper lip vermilion, Anteverted nares, Micrognathia, Joint stiffness, Non-midline cleft lip,...	ORPHA:1915
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count	OMIM:618394
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,...	OMIM:609945
Orofaciodigital Syndrome Type 10	Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ...	ORPHA:2756
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Coxa vara, Cone-s...	ORPHA:63446
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormal dental morphology, Swelling of proximal interphalangeal joints, Interphalangeal joint co...	ORPHA:69087
Sézary Syndrome	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Au-Kline Syndrome	Downturned corners of mouth, Vertebral segmentation defect, Oligodontia, High palate, Clinodactyl...	OMIM:616580
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose, Thick vermilion border, Long philtrum	ORPHA:833
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Overlapping toe, Short neck, Cleft lip, Bulbous nose, Deep philtrum, Wide nasa...	OMIM:618571
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Immunodeficiency 57 With Autoinflammation	Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia	OMIM:618108
Developmental And Epileptic Encephalopathy 75	Anteverted nares, Wide nasal bridge, Short philtrum, Decreased liver function, Prolonged neonatal...	OMIM:618437
Cockayne Syndrome A	Mandibular prognathia, Hip contracture, Slender nose, Hepatomegaly, Delayed eruption of primary t...	OMIM:216400
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Thin upper lip vermilion, Short neck, Thyroid lymphangiectasia, Splenomegaly, Posta...	OMIM:235255
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Elevated hepatic transaminase, Epistaxis, Epiphyseal stippling, Short nose, Joint hemorrhage, Sho...	OMIM:277450
Scheie Syndrome	Hepatomegaly, Joint stiffness, Splenomegaly, Limitation of joint mobility, Wide mouth, Rhinitis, ...	ORPHA:93474
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Persistence of primary teeth, Protruding tongue, Cryptorchidi...	OMIM:610253
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly	OMIM:231000
Multiple Sulfatase Deficiency	Broad hallux phalanx, Hepatomegaly, Depressed nasal bridge, Anteverted nares, Joint stiffness, Sp...	ORPHA:585
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol...	ORPHA:3429
Kabuki Syndrome 2	Joint laxity, Natal tooth, Micrognathia, Broad nasal tip, Lower lip pit, Dental malocclusion, Hip...	OMIM:300867
Idiopathic Aplastic Anemia	Pancytopenia, Epistaxis, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Gingiv...	ORPHA:88
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Cholangitis, Short neck, Micrognathia, Short metatarsal, Hepatic fibrosis, Widely spa...	OMIM:266920
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Tented upper lip vermilion, Anteverted nares, Broad hallux, Depressed nasal bridge, Bulbous nose,...	OMIM:614105
Schinzel-Giedion Syndrome	Short neck, Micrognathia, Abnormality of the gingiva, Tibial bowing, Choanal stenosis, Short phil...	ORPHA:798
Hyper-Igd Syndrome	Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Oral ulcer, Lymphadenopathy, Hepatosplen...	OMIM:260920
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, O...	ORPHA:534
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Recurrent fractures, Abnormality of neutrophils, Abnormal...	ORPHA:1775
Amyloidosis, Familial Visceral	Splenomegaly, Cholestasis, Hepatomegaly	OMIM:105200
Melnick-Needles Syndrome	Delayed eruption of teeth, Short humerus, Obtuse angle of mandible, Hypoplastic scapulae, Anterio...	OMIM:309350
Mannosidosis, Alpha B, Lysosomal	Mandibular prognathia, Hepatomegaly, Increased vertebral height, Splenomegaly, Vacuolated lymphoc...	OMIM:248500
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Elbow contracture, Allergic rhinitis, Annular pancreas, 2-3 toe syndactyly, Knee flex...	OMIM:618162
Endocrine-Cerebroosteodysplasia	Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, Thick upper lip vermilion, Median ...	OMIM:612651
Autosomal Dominant Robinow Syndrome	Short neck, Micrognathia, High, narrow palate, Abnormality of the gingiva, Hemivertebrae, Coxa va...	ORPHA:3107
Sialidosis Type 1	Splenomegaly, Kyphosis, Thick lower lip vermilion, Wide nasal bridge, Abnormal form of the verteb...	ORPHA:812
Chromosome 19Q13.11 Deletion Syndrome, Distal	Anteverted nares, Overlapping toe, Underdeveloped nasal alae, Micrognathia, Carious teeth, Wide n...	OMIM:613026
Intellectual Disability-Strabismus Syndrome	Depressed nasal bridge, Rocker bottom foot, Narrow nasal ridge, Short neck, Prominent nose, Micro...	ORPHA:363528
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Short neck, Mi...	OMIM:217980
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Tarsal synostosis, Camptodactyly of finger, Micro...	ORPHA:2633
Sjögren-Larsson Syndrome	Kyphosis, Abnormal dental enamel morphology, Scoliosis, Joint stiffness	ORPHA:816
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Deep ...	ORPHA:96334
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Carious teeth, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Leukopenia, Inc...	OMIM:127550
20Q11.2 Microduplication Syndrome	Sacral dimple, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Tented philt...	ORPHA:363659
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Dentinogenesis imperfecta, Hip ...	OMIM:616507
Spondylometaphyseal Dysplasia, A4 Type	Limitation of joint mobility, Micromelia, Coxa vara, Short palm	ORPHA:168555
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Prominent nasal bridge, Tapered finger, Bulbous nose, Flexion contracture, Interphalangeal thumb ...	OMIM:613870
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Splenomegaly, Erythroid hypoplasia...	OMIM:612541
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Lymphadenopathy	OMIM:619183
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Ulnar deviated club hands, Temporomandibular joint ankylosis, Lateral ...	OMIM:164900
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Joint stiffness, Metatarsus adductus, H...	ORPHA:2249
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Short neck, Cholestasis, Anemia, Decreased liver function, Camptodactyly, Ascites, ...	OMIM:608104
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Joint hyperflexibility, Kyphosis	ORPHA:1875
Cronkhite-Canada Syndrome	Hepatomegaly, Tapered finger, Splenomegaly, Hypogeusia, Furrowed tongue, Anemia	ORPHA:2930
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi...	OMIM:618729
Spondyloocular Syndrome	Long toe, Osteopenia, Overlapping toe, Arachnodactyly, Femur fracture, Abnormality of the dentiti...	OMIM:605822
Cockayne Syndrome B	Mandibular prognathia, Slender nose, Hepatomegaly, Prominent nasal bridge, Delayed eruption of pr...	OMIM:133540
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node...	ORPHA:79124
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Arachnodactyly, Camptodactyly of finger, Carious teeth, Kyphosis, Joint contracture of the 5th fi...	ORPHA:1883
Cog5-Cdg	Elevated hepatic transaminase, Hepatomegaly, Camptodactyly of finger, Short neck, Prominent nose,...	ORPHA:263487
Leukodystrophy, Hypomyelinating, 10	Anteverted nares, Arachnodactyly, Bulbous nose, Thin vermilion border, Long philtrum, Malar flatt...	OMIM:616420
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Natal tooth, Hypogonadotropic hypogonadism, Oligodontia, Hypodontia	OMIM:614381
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Eosinophilia, Hepati...	ORPHA:400
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem...	ORPHA:514
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Gray Platelet Syndrome	Myelofibrosis, Epistaxis, Abnormal number of alpha granules, Splenomegaly, Thrombocytopenia	OMIM:139090
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Reduced natural killer cell count, ...	OMIM:620133
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Proximal placement of thumb, Micrognathia, Prominent nose, High, narrow pa...	ORPHA:435638
Fetal Trimethadione Syndrome	Depressed nasal bridge, Micrognathia, High palate, Scoliosis, Short nose	ORPHA:1913
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Advanced eruption of teeth, High palate, Hypertrichosis	OMIM:262190
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Microretrognathia, Depressed nasal bridge, Splenomegaly, Microves...	OMIM:619418
Microcephaly-Micromelia Syndrome	Wide nose, Craniosynostosis, Micrognathia, Absent thumb, Absent radius, Micromelia, Humeroradial ...	OMIM:251230
Familial Tumoral Calcinosis	Hepatomegaly, Abnormality of the dentition, Splenomegaly, Abnormality of the gingiva, Gingivitis,...	ORPHA:53715
Bainbridge-Ropers Syndrome	Dental crowding, Micrognathia, Contracture of the proximal interphalangeal joint of the 4th finge...	OMIM:615485
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati...	OMIM:250220
Mccune-Albright Syndrome	Pancytopenia, Recurrent fractures, Osteomalacia, Fibrous dysplasia of the bones, Abnormal femur m...	ORPHA:562
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Split hand, Humeroradi...	ORPHA:2019
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy...	OMIM:206100
Congenital Myopathy 22A, Classic	Hip contracture, Thoracic scoliosis, Dental crowding, Spinal rigidity, Micrognathia, Kyphosis, Ac...	OMIM:620351
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Micrognathia, Hip dysplasia, Scoliosis, Short nose	ORPHA:496790
Atelosteogenesis, Type Iii	Radial bowing, Sandal gap, Rhizomelia, Micrognathia, Tombstone-shaped proximal phalanges, Hypopla...	OMIM:108721
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Broad nasal tip, Small hand, Spina bifida occulta, Broad columella, Depressed nasal t...	ORPHA:488434
Cardiofacioneurodevelopmental Syndrome	Micrognathia, Asplenia, Kyphosis, Cleft lip, Cleft palate, Abdominal situs inversus, Camptodactyl...	OMIM:619123
Cranioectodermal Dysplasia 2	Cholangitis, Micrognathia, Fused teeth, High palate, Widely spaced teeth, Microdontia, Joint laxi...	OMIM:613610
Orofaciodigital Syndrome Iii	Kyphosis, Postaxial hand polydactyly, Bulbous nose, Supernumerary tooth, Tongue nodules, Postaxia...	OMIM:258850
Thrombocytopenia 5	Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia...	OMIM:616216
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Short nose	OMIM:617802
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Joint stiffness, Splenomegaly, Mediastinal lymphadenopathy, Osteo...	ORPHA:809
Weill-Marchesani Syndrome 2	Short metacarpal, Thin bony cortex, Joint stiffness, Hypoplasia of the maxilla, Short metatarsal,...	OMIM:608328
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Absent nipple, Sparse eyelashes, Micrognathia, ...	OMIM:209885
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o...	OMIM:204690
Dubowitz Syndrome	Delayed eruption of teeth, Syndactyly, Aplastic anemia, Prominent nasal bridge, Micrognathia, Car...	OMIM:223370
Acrofrontofacionasal Dysostosis	Brachydactyly, Camptodactyly of finger, Micromelia, Broad nasal tip, Non-midline cleft lip, Cleft...	ORPHA:1784
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Joint laxity, Micrognathia, Dental malocclusion, Localized hypoplasia of dental ename...	ORPHA:73223
Alg9-Cdg	Short neck, Micrognathia, Narrow greater sciatic notch, Abnormal bone ossification, Bifid uvula, ...	ORPHA:79328
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Mandibuloacral Dysplasia With Type B Lipodystrophy	Convex nasal ridge, Abnormal fingertip morphology, Micrognathia, Abnormality of the dentition, Os...	ORPHA:90154
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Abnormal dental enamel morphology, Joint stiffness, Prominent nose, Kyphosis, ...	ORPHA:1005
Alveolar Echinococcosis	Low back pain, Abnormal pelvis bone morphology, Liver abscess, Eosinophilia, Cholangitis, Portal ...	ORPHA:284
Boutonneuse Fever	Leukopenia, Cervical lymphadenopathy, Thrombocytopenia, Lymphadenopathy	ORPHA:83313
Spondyloepiphyseal Dysplasia, Kimberley Type	Osteoarthritis, Abnormal epiphysis morphology, Micromelia	ORPHA:93283
Laron Syndrome	Limb undergrowth, Short long bone	OMIM:262500
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Anteverted nares, E...	ORPHA:261494
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Overlapping toe, Anteverted nares, Craniosynostosis, Depressed nasal bridge, Choanal...	OMIM:123790
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Cholestatic liver disease, Hemopha...	ORPHA:540
Primary Hyperoxaluria	Generalized osteosclerosis, Failure to thrive, Recurrent fractures	ORPHA:416
Acro-Renal-Mandibular Syndrome	Short neck, Micrognathia, Hemivertebrae, Orofacial cleft, High palate, Short philtrum, Hypoplasia...	ORPHA:958
Genitopalatocardiac Syndrome	Micrognathia, Kyphosis, Postaxial hand polydactyly, Abnormal mesentery morphology, Abnormality of...	ORPHA:2075
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Ost...	ORPHA:139507
Holt-Oram Syndrome	Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Joint stiffn...	ORPHA:392
16Q24.3 Microdeletion Syndrome	Smooth philtrum, Anteverted nares, Proximal placement of thumb, Micrognathia, Kyphosis, Wide mout...	ORPHA:261250
Microcephaly-Capillary Malformation Syndrome	Wide nose, Hypoplasia of the maxilla, Cleft palate, Right ventricular hypertrophy, Clinodactyly, ...	OMIM:614261
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Myeloprolifer...	ORPHA:79456
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Rocker bottom foot, Micrognathia, Calcaneovalgus deformity, Recurrent...	ORPHA:3078
Doors Syndrome	Short lingual frenulum, Abnormal finger morphology, Downturned corners of mouth, Widely spaced te...	ORPHA:79500
X-Linked Intellectual Disability, Cabezas Type	Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Short neck, Prominen...	ORPHA:85293
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement ...	ORPHA:261211
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Congenital hip dislocation, Short neck, High, narrow palate, Vertebral seg...	ORPHA:373
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Cheilitis, Cholestasis, Lymphadenopathy, Neutropenia	ORPHA:293173
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Smooth philtrum, Thin upper lip vermilion, Kyphosco...	ORPHA:263508
Glycogen Storage Disease Ixb	Splenomegaly, Increased hepatic glycogen content, Hepatomegaly	OMIM:261750
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Triploidy	Hepatomegaly, Finger syndactyly, Short neck, Micrognathia, Abnormality of the pancreas, Non-midli...	ORPHA:3376
Marden-Walker Syndrome	Arachnodactyly, Anteverted nares, Short neck, Micrognathia, Wide anterior fontanel, Kyphosis, Hig...	OMIM:248700
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Ascites, Anemia, Hepatomegaly	ORPHA:2123
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat...	ORPHA:83469
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly	OMIM:612526
Coffin-Siris Syndrome	Joint laxity, Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Depressed na...	ORPHA:1465
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Advanced eruption of teeth,...	OMIM:615873
Oculocerebral Hypopigmentation Syndrome, Cross Type	Anteverted nares, Arachnodactyly, Depressed nasal bridge, Abnormal thumb morphology, Limitation o...	ORPHA:2719
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Depressed nasal bridge, Joint stiffness, Hypoplastic ilia,...	ORPHA:1860
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Sacral dimple, Anteverted nares, Micrognathi...	OMIM:247200
Castleman Disease	Myelofibrosis, Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal l...	ORPHA:160
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Depressed nasal bridge, Aplasia of the thymus, Short neck, Broad nasal tip, Kyphosis, Cleft lip, ...	OMIM:618223
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract...	ORPHA:3103
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire...	OMIM:233710
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Flexion contracture	OMIM:618237
Farber Disease	Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Short toe, Flexion contracture...	ORPHA:333
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Lymph node hypoplasia, T lymphocytopenia, B lymp...	OMIM:300755
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Oligodontia, Hypogonadotropic hypogonadism, Hypodontia	ORPHA:447896
Psoriasis 14, Pustular	Neutrophilia, Cholangitis, Leukocytosis, Oligoarthritis, Furrowed tongue, Geographic tongue	OMIM:614204
Carey-Fineman-Ziter Syndrome	Anteverted nares, Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin sequence, Cleft pa...	ORPHA:1358
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Thin upper lip vermilion, Dental crowding, Anteverted n...	ORPHA:261323
Hypertrichosis Cubiti	Joint hyperflexibility, Rhizomelia, Prominent nasal bridge, Micromelia	ORPHA:2220
Arthrogryposis, Distal, Type 5	Arachnodactyly, Limited wrist extension, Kyphosis, Absent phalangeal crease, Distal arthrogryposi...	OMIM:108145
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Lumbar hyperlordosis, Short neck, Joint stiffness, Thrombocytopenia, Flexion contracture, Enlarge...	ORPHA:505248
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli...	ORPHA:440354
Pontocerebellar Hypoplasia, Type 10	Thin upper lip vermilion, Kyphoscoliosis, Short neck, Tapered finger, Underdeveloped nasal alae, ...	OMIM:615803
Oslam Syndrome	Clinodactyly, Radioulnar synostosis, Anemia, Radial deviation of finger	OMIM:165660
Brachycephaly, Trichomegaly, And Developmental Delay	Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde...	OMIM:617412
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Recurrent upper respiratory...	ORPHA:391487
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Shox-Related Short Stature	Micrognathia, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, High palate, Lower lim...	ORPHA:314795
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, High, narrow palate, Taurodonti...	ORPHA:3214
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Microretrognathia, Anteverted nares, Splenomegaly, J...	OMIM:251290
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, O...	OMIM:607626
Fanconi-Bickel Syndrome	Failure to thrive, Rickets, Osteomalacia	OMIM:227810
Alg12-Cdg	Thin upper lip vermilion, Wide nose, Sandal gap, Prominent nasal bridge, Proximal placement of th...	ORPHA:79324
Den Hoed-De Boer-Voisin Syndrome	Smooth philtrum, Delayed eruption of teeth, Sandal gap, Carious teeth, Small hand, 2-3 toe syndac...	OMIM:619229
Prader-Willi Syndrome Due To Translocation	Short neck, Prominent nose, Micrognathia, Downturned corners of mouth, High palate, Clinodactyly ...	ORPHA:177907
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Cutaneous...	ORPHA:93322
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	ORPHA:3261
Shashi-Pena Syndrome	Thin upper lip vermilion, Short metacarpal, Broad nasal tip, Kyphosis, Osteoporosis, Scoliosis, C...	OMIM:617190
Weiss-Kruszka Syndrome	Anteverted nares, Exaggerated cupid's bow, Proximal placement of thumb, Clinodactyly of the 5th f...	OMIM:618619
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Kyphosis, Splenomegaly, Jaundice, Normoch...	OMIM:615512
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Severe B lymphocytopenia, Arachnodactyly, Overlapping toe, Micrognathia, Biliary hy...	ORPHA:83617
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Abnormal intervertebral disk morphology, Anteverted nares, Camptodactyly of fi...	ORPHA:2311
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Postaxial polydactyly, Micrognathia, Micromelia, Missing...	OMIM:617866
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Juvenile rheumatoid arthritis, Lymphadenopathy	ORPHA:85414
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger, Hepatomegaly, Depressed nasa...	OMIM:280000
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Stomatitis, Thrombocytopenia	OMIM:246400
Propionic Acidemia	Hepatomegaly, Pancytopenia, Osteoporosis, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	OMIM:606054
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor, Brachydactyly, Adducted thumb	OMIM:620062
Typical Nemaline Myopathy	Short neck, Hyperlordosis, Kyphosis, Spinal rigidity, Flexion contracture, Hip dislocation, Micro...	ORPHA:171436
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormal metacarpophalangeal joint morphology, Hepatomegaly, Cholangiocarcinoma, Portal hypertens...	ORPHA:465508
Distal Renal Tubular Acidosis	Hemolytic anemia, Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mine...	ORPHA:18
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Calcification of the auricular cartilage, Kyphosis, Flexion contracture, Bone cy...	ORPHA:3042
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Short neck, Kyphosis, Narrow mouth...	ORPHA:77301
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire...	OMIM:233690
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau...	OMIM:603903
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia	ORPHA:27
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Vertebral fusion, Anteverted nares, Down-sloping shoulders, Prominent nasal bridge, M...	OMIM:227330
Tooth Agenesis, Selective, 3	Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia	OMIM:604625
Srd5A3-Cdg	Elevated hepatic transaminase, Microcytic anemia, Kyphosis, Abnormal sacrum morphology, Oligodontia	ORPHA:324737
Peho Syndrome	Tented upper lip vermilion, Tapered finger, Short nose, Retrognathia, Open mouth	OMIM:260565
Hypocalciuric Hypercalcemia, Familial, Type Iii	Osteomalacia	OMIM:600740
Mevalonic Aciduria	Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuating hepatomegaly, Thrombocytopen...	OMIM:610377
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Short neck, Micrognathia, Hypoplasia of the maxilla, Hem...	OMIM:213980
Myelofibrosis	Myelofibrosis, Splenomegaly, Myeloproliferative disorder	OMIM:254450
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Allergic rhinitis, Autoimmune thrombocytopenia, Lym...	ORPHA:331235
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Leukopenia, Hemophagocyt...	OMIM:267700
Acromesomelic Dysplasia 4	Mandibular prognathia, Broad toe, Short metacarpal, Radial bowing, Sandal gap, Prominent deltoid ...	OMIM:619636
Khan-Khan-Katsanis Syndrome	Sacral dimple, Tented upper lip vermilion, Postaxial polydactyly, Micrognathia, Triangular mouth,...	OMIM:618460
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Aphthous ulcer, Leukocytosis, Oral...	OMIM:615688
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Short neck, Splenomegaly, Jaundice, Elevated circulating alanine...	OMIM:611881
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,...	ORPHA:93260
Linear Skin Defects With Multiple Congenital Anomalies 2	Short nose, Sandal gap, Long philtrum	OMIM:300887
Deeah Syndrome	Prominent nasal tip, Decreased hemoglobin concentration, Cervical hemivertebrae, Hepatomegaly, Sh...	OMIM:619004
Campomelic Dysplasia	Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patel...	OMIM:114290
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hepatosple...	OMIM:603553
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Kyphosis, Split hand, High, narrow palate, Scoliosis	OMIM:618124
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Short neck, Micrognathia, Flexion contracture, Knee flexion contract...	OMIM:265000
Barber-Say Syndrome	Delayed eruption of teeth, Wide mouth, Sparse or absent eyelashes, Breast aplasia, Hypoplastic ni...	ORPHA:1231
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Depressed nasal bridge, Choanal atresia, Short neck, Choanal stenosis, Lumbar h...	OMIM:619859
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Micrognathia, Hepatic steatosis, Hepatomegaly, Elevated circulating aspartate ...	OMIM:619525
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Chronic Granulomatous Disease	Hepatomegaly, Sinusitis, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lym...	ORPHA:379
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene...	OMIM:609441
2Q31.1 Microdeletion Syndrome	Short neck, Micrognathia, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, ...	ORPHA:251014
De Barsy Syndrome	Osteopenia, Delayed eruption of teeth, Congenital hip dislocation, Kyphoscoliosis, Generalized jo...	ORPHA:2962
Micro Syndrome	Anteverted nares, Joint stiffness, Micrognathia, Kyphosis, Wide nasal bridge, High palate, Short ...	ORPHA:2510
3Q29 Microdeletion Syndrome	Dental crowding, Prominent nasal bridge, Tapered finger, Abnormality of the dentition, Orofacial ...	ORPHA:65286
Peroxisome Biogenesis Disorder 3B	Depressed nasal ridge, Osteoporosis, Malar flattening, Hepatomegaly	OMIM:266510
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Bone cyst, Anemia	ORPHA:2668
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol...	ORPHA:1106
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Joint hyperflexibility, Decreased calvarial ossification, Recurrent fractures, Micromelia	ORPHA:2772
Kleefstra Syndrome 2	Kyphosis, Everted lower lip vermilion, Bifid uvula, Scoliosis	OMIM:617768
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Micromelia, Flexion contracture, Osteoporosis, Rickets, Large hands, Ar...	ORPHA:2671
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Tetrasomy 5P	Overlapping toe, Anteverted nares, Short hallux, Short neck, Micrognathia, Wide anterior fontanel...	ORPHA:3309
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Micrognathia, Downturned corners of mouth, Choanal stenosis, Bifid uvula, Broad h...	OMIM:620186
Cebalid Syndrome	Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, High palate, Short nose	OMIM:618774
Thanatophoric Dysplasia Type 2	Depressed nasal bridge, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platyspon...	ORPHA:93274
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Ost...	ORPHA:264580
Chops Syndrome	Anteverted nares, Splenomegaly, High, narrow palate, Downturned corners of mouth, Long philtrum, ...	OMIM:616368
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Autosomal Recessive Spastic Paraplegia Type 53	Joint hyperflexibility, Kyphosis	ORPHA:319199
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Dend Syndrome	Anteverted nares, Elevated hemoglobin A1c, Downturned corners of mouth, Long philtrum, Clinodacty...	ORPHA:79134
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Thick nasal septum, High palate, ...	OMIM:303600
Alkuraya-Kucinskas Syndrome	Overlapping toe, Anteverted nares, Depressed nasal bridge, Micrognathia, Cutaneous syndactyly, Hi...	OMIM:617822
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormally ossified vertebrae, Brachydactyly, Abnormal distal phalanx morphology of f...	ORPHA:2636
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Tented upper lip vermilion, Broad hallux, Broad nasal tip, Wide nasal bridge, Shortening of all d...	OMIM:614749
Pediatric Systemic Lupus Erythematosus	Oral ulcer, Lymphadenopathy, Leukopenia, Arthritis, Ascites, Microangiopathic hemolytic anemia, L...	ORPHA:93552
Warburg Micro Syndrome 3	Kyphoscoliosis, Micrognathia, Flexion contracture, Narrow palate, Downturned corners of mouth, Cl...	OMIM:614222
Cranioectodermal Dysplasia 1	High, narrow palate, Hepatic fibrosis, High palate, Widely spaced teeth, Microdontia, Anodontia, ...	OMIM:218330
X-Linked Charcot-Marie-Tooth Disease Type 1	Kyphosis, Scoliosis	ORPHA:101075
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia	OMIM:616084
Osteootohepatoenteric Syndrome	Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Microvesicular hepatic ...	OMIM:619377
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Thin upper lip vermilion, Bulbous nose, Wide nasal bridge, Short nose	OMIM:620292
Adams-Oliver Syndrome 6	Syndactyly, Portal hypertension, Splenomegaly, Foot oligodactyly, Hepatic fibrosis, Brachydactyly	OMIM:616589
Peho Syndrome	Anteverted nares, Tapered finger, Open mouth, Flexion contracture, Limitation of joint mobility, ...	ORPHA:2836
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Depressed nasal bridge, Malar flattening, Tapered finger, Hyperlordosis, Cleft lip,...	OMIM:301066
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Short neck, Micrognathia, Tracheobroncho...	OMIM:613458
Craniosynostosis And Dental Anomalies	Hallux valgus, Mandibular prognathia, Delayed eruption of teeth, Broad hallux, Dental crowding, S...	OMIM:614188
Meckel Syndrome, Type 1	Micrognathia, Asplenia, Lobulated tongue, Accessory spleen, Syndactyly, Malformation of the hepat...	OMIM:249000
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrah...	OMIM:613812
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Short neck, Micrognathia, Abnormal form of the vertebral bodies, Adv...	ORPHA:818
Intellectual Developmental Disorder, Autosomal Dominant 21	Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Incisor macrodontia	OMIM:615502
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Mandibular prognathia, Joint laxity, Rhizomelia, Absent nasal bridge, Mesomelia, Broad thumb, Bra...	ORPHA:171866
15Q14 Microdeletion Syndrome	Prominent nasal bridge, Abnormality of the dentition, Kyphosis, Cleft palate, Short philtrum, Sco...	ORPHA:261190
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Thin upper lip vermilion, Broad nasal tip, Short neck, Splenomegaly, Postaxial hand...	ORPHA:1655
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Short nose, Thick nasal alae, Retrognathia, Micrognathia	ORPHA:163961
Lateral Meningocele Syndrome	Smooth philtrum, Vertebral fusion, Dental crowding, Short neck, Micrognathia, Kyphosis, Cleft pal...	OMIM:130720
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Portal hyperte...	OMIM:619487
Omodysplasia 1	Short humerus, Increased fibular diameter, Depressed nasal bridge, Malar flattening, Short neck, ...	OMIM:258315
Image Syndrome	Metaphyseal dysplasia, Depressed nasal bridge, Micromelia	ORPHA:85173
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Micrognathia, Flexion contracture, High palate, Macrovesicular hepatic steatosis, Sho...	OMIM:619127
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy	OMIM:617099
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Anteverted nares, Portal hypertension, Splenomegaly,...	OMIM:216360
Absent Eyebrows And Eyelashes With Mental Retardation	Short nose, Convex nasal ridge	OMIM:200130
Relapsing Fever	Neutrophilia, Epistaxis, Leukocytosis, Jaundice, Anemia, Leukopenia, Thrombocytopenia	ORPHA:91547
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Bi...	OMIM:601356
Baller-Gerold Syndrome	Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Prominent nasal b...	ORPHA:1225
Peroxisome Biogenesis Disorder 4A (Zellweger)	Epiphyseal stippling, Depressed nasal bridge, Hepatomegaly	OMIM:614862
Stormorken Syndrome	Howell-Jolly bodies, Epistaxis, Prominent nose, Asplenia, Thrombocytopenia, Short philtrum, Hypop...	OMIM:185070
Xylt1-Cdg	Joint laxity, Hepatomegaly, Coxa valga, Flared metaphysis, Cleft palate, Short long bone, Thick v...	ORPHA:370930
Hereditary Orotic Aciduria	Splenomegaly, Hip dysplasia, Wide nasal bridge, Anemia	ORPHA:30
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis...	OMIM:210250
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Mosaic Trisomy 9	Rocker bottom foot, Camptodactyly of finger, Micrognathia, Asplenia, Micromelia, Bulbous nose, Li...	ORPHA:99776
Jaberi-Elahi Syndrome	Depressed nasal bridge, Joint stiffness, Kyphosis, Triangular mouth, Scoliosis, Short nose, Joint...	OMIM:617988
Williams Syndrome	Osteopenia, Cardiomegaly, Micrognathia, Abnormal form of the vertebral bodies, Vertebral segmenta...	ORPHA:904
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macrog...	OMIM:606612
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bowing of the long bones, Metaphyseal sclerosis, Thrombocytopenia, Osteoporosis, Genu...	OMIM:612199
Waardenburg Syndrome Type 1	Mandibular prognathia, Tented upper lip vermilion, Underdeveloped nasal alae, Cleft upper lip, Wi...	ORPHA:894
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p...	OMIM:600802
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Portal hypertension, Anemia, Lymphopenia, Thrombocytopenia	OMIM:620365
Incontinentia Pigmenti	Delayed eruption of teeth, Alopecia, Supernumerary nipple, Conical tooth, Fine hair, Coarse hair,...	OMIM:308300
Atypical Werner Syndrome	Sclerosis of hand bone, Short palm, Increased bone mineral density, Rocker bottom foot, Limitatio...	ORPHA:79474
Myopathy, Centronuclear, 2	Hyperlordosis, Kyphosis, Flexion contracture, High palate, Scoliosis	OMIM:255200
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Legionnaires Disease	Splenomegaly, Jaundice, Recurrent pharyngitis, Hepatitis, Lymphadenopathy, Bone marrow hypocellul...	ORPHA:549
Campomelia, Cumming Type	Hepatomegaly, Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Pancreatic cys...	ORPHA:1318
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Atkin-Flaitz Syndrome	Thick vermilion border, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnor...	ORPHA:1193
D-Bifunctional Protein Deficiency	Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Depressed nasal bridge, Fetal ascites, M...	OMIM:261515
Wrinkly Skin Syndrome	Osteopenia, Microretrognathia, Smooth philtrum, Congenital hip dislocation, Delayed eruption of t...	OMIM:278250
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Thoracic scoliosis, Equinus calcaneus, Micrognathia, Shoulder dislocation, High palat...	ORPHA:536532
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Anteverted nares, Prominent nasal bridge, Portal hyp...	ORPHA:1454
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, High, narrow palate, Short philtrum, Finger sy...	ORPHA:464738
Ullrich Congenital Muscular Dystrophy 1	Joint laxity, Spinal rigidity, Distal joint laxity, Kyphosis, Flexion contracture, Hip dislocatio...	OMIM:254090
Brachyolmia Type 3	Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Short femoral nec...	OMIM:113500
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Mandibulofacial Dysostosis-Microcephaly Syndrome	Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Clef...	ORPHA:79113
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenitis, Cholestas...	OMIM:615895
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Mandibular prognathia, Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Tented upper lip vermilion, Rocker bottom foot, Microgna...	ORPHA:521426
Pallister-Hall Syndrome	Natal tooth, Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, ...	OMIM:146510
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Hypoplasia of the zygomatic bone, Malar flattening, Short nose, Depressed nasal bridge	ORPHA:2835
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid...	ORPHA:2502
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Hyperlordosis, Spinal rigidity, Splenome...	OMIM:613327
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Flexion contracture, Femoral bowing, Choanal stenosis, Elbow ankylosis, Abno...	ORPHA:95699
Hypomandibular Faciocranial Dysostosis	Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Cleft palate, Choanal steno...	ORPHA:1790
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Sandal gap, Macrodactyly, Splenomegaly, Cranial hyperostosis, Scoliosis	OMIM:612918
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Wide nasal bridge, Epiphyseal stippling, Hepatic fibrosis, Cirrhosis, Convex nasal ...	OMIM:601539
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Aplasia of the ulna, Short neck, Micrognathia, Abnormal ...	ORPHA:2879
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Epistaxis, Abnormality of neutrophils, Splenomegaly, Lymphadenop...	ORPHA:33226
Polycythemia Vera	Myelofibrosis, Hepatomegaly, Epistaxis, Portal hypertension, Portal vein thrombosis, Splenomegaly...	ORPHA:729
Cerebrooculonasal Syndrome	U-Shaped upper lip vermilion, Anteverted nares, Prominent nasal bridge, Craniosynostosis, Probosc...	OMIM:605627
X-Linked Intellectual Disability, Cantagrel Type	Short nose, Tented upper lip vermilion, Short philtrum	ORPHA:85277
Degcags Syndrome	Osteopenia, Prominent nose, Micrognathia, Leukopenia, Iron deficiency anemia, High palate, Syndac...	OMIM:619488
Restrictive Dermopathy 1	Natal tooth, Limb joint contracture, Rocker bottom foot, Kyphoscoliosis, Narrow nasal ridge, Depr...	OMIM:275210
Nicolaides-Baraitser Syndrome	Short lingual frenulum, High, narrow palate, Short metatarsal, Prominent interphalangeal joints, ...	OMIM:601358
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog...	ORPHA:1836
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Thrombocytopen...	ORPHA:50918
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Anteverted nares, Underdeveloped nasal alae, Congenital hepatic fibrosis, Glossoptosis, Clinodact...	ORPHA:2031
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Splenomegaly, Hepatomegaly	OMIM:306000
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Osteoporosis, Oral ulc...	OMIM:232220
Congenital Disorder Of Glycosylation, Type Iib	Hepatomegaly, Thoracic scoliosis, Wide nose, Recurrent fractures, Elevated circulating aspartate ...	OMIM:606056
Developmental Delay With Or Without Dysmorphic Facies And Autism	Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Prominent na...	OMIM:618454
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Short t...	ORPHA:968
Weaver Syndrome	Mandibular prognathia, Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing,...	OMIM:277590
Grant Syndrome	Micrognathia, Down-sloping shoulders, Tibial bowing	OMIM:138930
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa...	OMIM:617604
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Sinusitis, Sandal gap, Choanal atresia, Malar prominence, Cleft uppe...	OMIM:251260
Baralle-Macken Syndrome	Kyphosis, High, narrow palate, Tapered finger	OMIM:619255
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Anteverted nares, Down-sloping shoulders, Prominent nasal bridge, Micrognathia...	ORPHA:1974
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Clubbing, Iron deficiency anemia, Clubbing of fingers, Thrombocytosis, Intestinal l...	OMIM:226300
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Atelis Syndrome 2	Sacral dimple, Prominent nose, Micrognathia, Kyphosis, Bulbous nose, Thrombocytopenia, Diastema, ...	OMIM:620185
Immunodeficiency With Hyper-Igm, Type 2	Recurrent upper and lower respiratory tract infections, Lymphadenopathy	OMIM:605258
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Joint hypermobi...	OMIM:300972
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Cleft upp...	OMIM:211350
Kinsship Syndrome	Mandibular prognathia, Thin upper lip vermilion, Osteopenia, Micrognathia, Coxa valga, Bulbous no...	OMIM:619297
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Pancytopenia, Epistaxis, Splenomegaly, Thrombocytopenia, Vacuolate...	ORPHA:167
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Syndactyly, Clinodactyly, Short nose	OMIM:618087
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Microretrognathia, Sacral dimple, Thin upper lip vermilion, Anteverted nares, Short n...	OMIM:300966
Noonan Syndrome 14	Prominent nasal bridge, Short neck, Kyphosis, High, narrow palate, Wide mouth, Prominent nasolabi...	OMIM:619745
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Pancytopenia, Small for gestational age, Rickets, Reduced bone mineral ...	OMIM:613658
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Osteoporosis, Hepatocellular adenoma, ...	ORPHA:79240
Trichohepatoneurodevelopmental Syndrome	Dental crowding, Downturned corners of mouth, High palate, Widely spaced teeth, Bilateral coxa va...	OMIM:618268
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy	OMIM:617827
Fetal Hydantoin Syndrome	Depressed nasal ridge, Cleft palate, Wide mouth, Everted lower lip vermilion, Triphalangeal thumb...	ORPHA:1912
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Thin upper lip vermilion, Depressed nasal bridge, Rocker bottom foot, Tapered finger, Narrow mout...	OMIM:601353
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Enanthema, Hepatitis, Lymphadenopathy, Lymphocytosis	ORPHA:139402
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Tapered finger, Supernumerary tooth, Thin vermilion border, Thick vermilion border, Elliptocytosi...	ORPHA:86818
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Short neck, Aplasia/Hypoplasia of the gallb...	ORPHA:264450
Sapho Syndrome	Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Craniofacial osteoscler...	ORPHA:793
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Arthritis, Abnormality ...	ORPHA:91138
Cerebellofaciodental Syndrome	Tapered finger, Dental malocclusion, Shortening of all distal phalanges of the fingers, Genu valg...	OMIM:616202
X-Linked Charcot-Marie-Tooth Disease Type 4	Kyphosis, Scoliosis	ORPHA:101078
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Downturned corners of mouth, Hypoplasia of the thymus, Genu va...	OMIM:264090
Frontofacionasal Dysplasia	Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, Depressed nasal ...	ORPHA:1791
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco...	OMIM:274000
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Acetabular dysplasia, Anemia	OMIM:618313
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire...	OMIM:306400
Mgat2-Cdg	Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Dental crowding, Kyphosis...	ORPHA:79329
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Short philtrum, Joint contracture of the 5th finger, Clinodactyly of the 5th finger, ...	ORPHA:363611
Toluene Embryopathy	Micrognathia, Tapered finger, Thin vermilion border, Hypoplasia of the zygomatic bone, Short nose...	ORPHA:1920
Ogden Syndrome	Congenital hip dislocation, Short neck, Cardiomegaly, Microvesicular hepatic steatosis, Micrognat...	OMIM:300855
Infantile Nephropathic Cystinosis	Failure to thrive, Rickets	ORPHA:411629
Distal Deletion 9P	Short neck, Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, S...	ORPHA:1642
Microform Holoprosencephaly	Narrow nasal bridge, Tented upper lip vermilion, Midnasal stenosis, Anteverted nares, Choanal atr...	ORPHA:280200
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Dental crowding, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Hi...	ORPHA:2789
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Follicular hyperplasia, Splen...	OMIM:619381
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Micrognathia, Recurrent upper respiratory tract infections, Wide nasal bridge, Decr...	OMIM:233600
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long fingers...	OMIM:617527
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Prominent nasal bridge, Proximal placement of thumb, Short neck, Tapered fi...	ORPHA:251071
Lopes-Maciel-Rodan Syndrome	Short foot, Kyphosis, Small hand, Scoliosis	OMIM:617435
Mucolipidosis Type Ii	Hip contracture, Depressed nasal bridge, Craniosynostosis, Limited wrist movement, Kyphosis, Sple...	ORPHA:576
Mandibulofacial Dysostosis, Guion-Almeida Type	Anteverted nares, Choanal atresia, Proximal placement of thumb, Micrognathia, Preaxial hand polyd...	OMIM:610536
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decrea...	ORPHA:300298
Proteus-Like Syndrome	Mandibular prognathia, Thymus hyperplasia, Anteverted nares, Open bite, Splenomegaly, Hyperostosis	ORPHA:2969
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Generalized lymphadenopathy, Swelling of proximal interphalangeal joints, Neutroph...	ORPHA:3260
X-Linked Intellectual Disability Due To Gria3 Mutations	Joint laxity, Mandibular prognathia, Kyphosis, Narrow palate, Short upper lip, Short philtrum, Th...	ORPHA:364028
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, He...	OMIM:235555
Tbck-Related Intellectual Disability Syndrome	Mandibular prognathia, Broad toe, 11 pairs of ribs, Tented upper lip vermilion, High, narrow pala...	ORPHA:488632
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Mandibular prognathia, Kyphosis, Scoliosis	OMIM:300861
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ...	OMIM:134780
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger...	OMIM:260660
Pterygium Colli, Isolated	Short nose	OMIM:177990
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Depressed nasal bridge, Anteverted nares, Elevated circu...	OMIM:618528
Intellectual Developmental Disorder, X-Linked 98	Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prom...	OMIM:300912
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Vertebral segmentation defect, Narrow greater sciatic notch, Short palm, H...	OMIM:312870
Donnai-Barrow Syndrome	Wide anterior fontanel, Short nose, Depressed nasal bridge	ORPHA:2143
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Recurrent fractures, Splenomegaly, Metaphyseal irregularity, Anemia	OMIM:239200
Classic Homocystinuria	Elevated hepatic transaminase, Hepatomegaly, Arachnodactyly, Recurrent fractures, Dental crowding...	ORPHA:394
Mosaic Variegated Aneuploidy Syndrome 1	Wide nose, Anteverted nares, Depressed nasal bridge, Short neck, Micrognathia, Triangular mouth, ...	OMIM:257300
Jacobsen Syndrome	Short neck, Abnormal form of the vertebral bodies, Broad columella, Long hallux, Broad hallux pha...	ORPHA:2308
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Den...	OMIM:619503
Rabson-Mendenhall Syndrome	Mandibular prognathia, Enlarged ovaries, Dental crowding, Thick hair, Abnormality of the dentitio...	ORPHA:769
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Micromelia, Hypoplastic ilia, Hypoplas...	OMIM:617895
Fibrochondrogenesis	Hypoplastic scapulae, Anteverted nares, Camptodactyly of finger, Micromelia, Depressed nasal brid...	ORPHA:2021
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia...	ORPHA:199302
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Depressed nasal bridge, Choanal atresia, Absent cupid's bow, Bulbous nose, Short nose	ORPHA:284169
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Thrombocytopenia, Metaphyseal widening, Exocrine pancreatic insu...	OMIM:617941
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Shortening of all distal phalange...	OMIM:614207
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li...	OMIM:311200
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Anteverted nares, Jaundice, Macroglossia, Concave nasal ridge, Prolonged ...	OMIM:613038
19P13.13 Microdeletion Syndrome	Smooth philtrum, Thin upper lip vermilion, Sandal gap, Anteverted nares, Depressed nasal bridge, ...	ORPHA:357001
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Gingiv...	OMIM:153670
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Micrognathia, Flexion contracture, Oligodontia, High palate, Short philtrum, Depressed nasal brid...	OMIM:309590
Lethal Acantholytic Erosive Disorder	Natal tooth, Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Clinodacty...	ORPHA:158687
Meckel Syndrome, Type 9	Limb undergrowth, Talipes equinovarus	OMIM:614209
Monosomy 9P	Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Short neck, Abnormality of...	ORPHA:261112
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Mediastinal lymphadenopathy, Clubbing, Hepatomegaly	OMIM:612387
Microcephaly 26, Primary, Autosomal Dominant	Prominent nasal bridge, Protruding tongue, Wide nasal bridge, Gingival overgrowth, Scoliosis, Lon...	OMIM:619179
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ...	ORPHA:53035
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Anteverted nares, Short neck, Kyphosis, Cone-shaped epiphyse...	ORPHA:420794
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Congenital hip dislocation, Anteverted nares, Broad nasal tip, Carious teeth, Generalized joint l...	ORPHA:357074
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Protruding tongue	DECIPHER:52
Microphthalmia, Syndromic 1	Syndactyly, Dental crowding, Down-sloping shoulders, Cleft upper lip, High, narrow palate, Tooth ...	OMIM:309800
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Microm...	ORPHA:1675
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Prominent nasal bridge, Cleft upper lip, Kyphosis, Bulbous nose,...	OMIM:610443
Zttk Syndrome	Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Downturned corners of mouth, High ...	OMIM:617140
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Osteoporosis, In...	OMIM:259770
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Depressed nasal bridge, Sandal gap, Abnormal dental enamel morphology, Abnormal fibula morphology...	ORPHA:1812
Amish Lethal Microcephaly	Hepatomegaly, Cleft soft palate, Micrognathia, Limitation of joint mobility, Osteoporosis, Decrea...	ORPHA:99742
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis, High palate, Short philtrum, Proximal placement of thumb	OMIM:615433
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Aphthous ulcer, Peritonitis, Arthritis	OMIM:249100
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Downturned corners of mouth, Kyphosis, Hip dislocation, Scoliosis	ORPHA:464282
Aspartylglucosaminuria	Joint laxity, Hepatomegaly, Anteverted nares, Depressed nasal bridge, Kyphosis, Vacuolated lympho...	OMIM:208400
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Menke-Hennekam Syndrome 1	Micrognathia, Deep philtrum, Flexion contracture, Depressed nasal ridge, Cutaneous syndactyly of ...	OMIM:618332
Multiple Sulfatase Deficiency	Hepatomegaly, Anteverted nares, Broad hallux, Splenomegaly, Hypoplastic vertebral bodies, Broad t...	OMIM:272200
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Femoral bowing, He...	OMIM:615415
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Short neck, Deep philtrum, Knee flexion contracture, Microdontia, Prominent crus of helix, Thin l...	OMIM:619194
Alagille Syndrome	Hypoplasia of the ulna, Hepatomegaly, Micrognathia, Long nose, Abnormal form of the vertebral bod...	ORPHA:52
Trisomy 10P	Thumb contracture, Absent gallbladder, Anteverted nares, Depressed nasal bridge, Abnormality of t...	ORPHA:171929
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp...	ORPHA:35078
Multiple Myeloma	Osteopenia, Splenomegaly, Lymphadenopathy, Pathologic fracture, Vertebral compression fracture, A...	ORPHA:29073
Jacobsen Syndrome	U-Shaped upper lip vermilion, Anteverted nares, Depressed nasal bridge, Short neck, Micrognathia,...	OMIM:147791
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Reduced bone mineral density, Vertebr...	ORPHA:2911
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Osteomyelitis, Hypochromic microcytic anemia, Arthritis, Septic arthritis	OMIM:619423
Wilson Disease	Acute hepatic failure, Osteoarthritis, Hepatic steatosis, Hemolytic anemia, Hepatomegaly, Osteoma...	OMIM:277900
Spastic Paraplegia 53, Autosomal Recessive	Joint hyperflexibility, Kyphosis	OMIM:614898
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Deep philtrum...	ORPHA:314655
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Tibial bowing, Fem...	OMIM:304120
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Flexion co...	OMIM:619124
Cerebrofaciothoracic Dysplasia	Wide nose, Short neck, Cleft upper lip, Hemivertebrae, Cleft palate, Wide mouth, Vertebral segmen...	ORPHA:1394
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Dental crowding, Clinodactyly, Downturned corners of mouth, Short philtrum, Widely spaced teeth, ...	OMIM:301044
Meckel Syndrome, Type 3	Hepatomegaly, Malformation of the hepatic ductal plate, Postaxial hand polydactyly, Cleft palate,...	OMIM:607361
X-Linked Intellectual Disability, Snyder Type	Long toe, Mandibular prognathia, Arachnodactyly, Recurrent fractures, Kyphoscoliosis, Anteverted ...	ORPHA:3063
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Exag...	ORPHA:261236
Primary Sclerosing Cholangitis	Osteopenia, Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of ...	ORPHA:171
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Syndactyly, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5t...	OMIM:609638
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Wide anterior fontanel, Submucous cleft har...	ORPHA:457279
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Micromelia, Micrognathia, Wide nasal bridge, Short long bone, Talipes e...	OMIM:224410
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Anteverted nares, Polydactyly, Narrow mouth, Complete dupli...	ORPHA:59315
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal...	OMIM:163400
Alg1-Cdg	Kyphosis, Limitation of joint mobility, Decreased liver function, Scoliosis	ORPHA:79327
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Micrognath...	ORPHA:1908
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ...	OMIM:187601
Wolcott-Rallison Syndrome	Acute hepatic failure, Metaphyseal dysplasia, Hepatomegaly, Elevated hepatic transaminase, Jaundi...	ORPHA:1667
Arterial Tortuosity Syndrome	Arachnodactyly, Rocker bottom foot, Craniosynostosis, Coxa valga, Avascular necrosis of the capit...	ORPHA:3342
Primary Fanconi Renotubular Syndrome	Hypophosphatemic rickets, Weight loss, Osteomalacia, Increased susceptibility to fractures	ORPHA:3337
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Long philtrum, Short nos...	OMIM:616430
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperlordosis, Short toe, Kyphosis, Brachydactyly	ORPHA:3085
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Thin upper lip vermilion, Depressed nasa...	OMIM:212065
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal dental morphology, Tarsal synostosis, Aplastic clavicle, Micrognathia, Abnormal dental e...	ORPHA:85199
Trisomy 13	Median cleft lip, Abnormality of the dentition, Kyphosis, Postaxial hand polydactyly, High, narro...	ORPHA:3378
Cadds	Elevated hepatic transaminase, Cholangitis, Micrognathia, Cholestasis, Short nose	ORPHA:369942
Marfanoid Habitus With Situs Inversus	Mandibular prognathia, Hyperextensibility of the finger joints, Arachnodactyly, Kyphosis, Scoliosis	OMIM:609008
Kaufman Oculocerebrofacial Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Anteverted nares, Ovoid vertebral bodies, D...	OMIM:244450
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, Arachnodactyly, Prominent nasal bridge, Craniosynostosis...	OMIM:616914
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Median cleft lip, Depressed nasal bridge, Postaxial polydactyly, Accessory oral fre...	OMIM:617088
Marinesco-Sjogren Syndrome	Short metacarpal, Coxa valga, Kyphosis, Flexion contracture, Short metatarsal, Scoliosis	OMIM:248800
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Short tubular bones of the hand, Abnormality...	ORPHA:56305
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Splenomegaly, Fulminant hepatiti...	ORPHA:2137
Prader-Willi Syndrome	Osteopenia, Syndactyly, Narrow nasal bridge, Thin upper lip vermilion, Carious teeth, Kyphosis, A...	OMIM:176270
Wrinkly Skin Syndrome	Osteopenia, Delayed eruption of teeth, Congenital hip dislocation, Kyphoscoliosis, Broad nasal ti...	ORPHA:2834
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Contracture of the p...	OMIM:300166
Mogs-Cdg	Hepatomegaly, Thoracic scoliosis, Wide nose, Cardiomegaly, Hepatosplenomegaly, High palate, Left ...	ORPHA:79330
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset d...	ORPHA:158048
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Downturned corners ...	ORPHA:280
Agammaglobulinemia 1, Autosomal Recessive	B lymphocytopenia, Rectal abscess, Recurrent sinusitis, Neutropenia	OMIM:601495
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Abnormality of the ...	ORPHA:1572
Mosaic Variegated Aneuploidy Syndrome 2	Depressed nasal bridge, Craniosynostosis, Micrognathia, Bulbous nose, Narrow mouth, Clinodactyly ...	OMIM:614114
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality of the gingiva, D...	ORPHA:2753
Meier-Gorlin Syndrome 6	Microretrognathia, Sandal gap, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal ala...	OMIM:616835
Wolf-Hirschhorn Syndrome	Micrognathia, Abnormal form of the vertebral bodies, Orofacial cleft, Downturned corners of mouth...	OMIM:194190
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Tapered finger, Abnormality of the dentition, Thick lower lip vermilion, Tracheomalacia	ORPHA:261652
Chromosome 3Q29 Duplication Syndrome	Bulbous nose, Wide nasal bridge, Short nose	OMIM:611936
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia...	ORPHA:276
Focal Dermal Hypoplasia	Congenital hip dislocation, Cleft ala nasi, Osteopathia striata, Short metatarsal, Oligodontia, F...	OMIM:305600
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Kyphosis, Osteoporosis, Pancreatitis	OMIM:610475
Alstrom Syndrome	Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Abnormality of the dentiti...	OMIM:203800
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Mandibular prognathia, Hip contracture, Depressed nasal bridge, Kyphosis, Elbow flexion contractu...	OMIM:618493
Intellectual Developmental Disorder, Autosomal Dominant 57	Thin upper lip vermilion, Prominent nasal bridge, Craniosynostosis, Broad nasal tip, Kyphosis, Co...	OMIM:618050
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Osteoporosis	OMIM:601979
Trichohepatoenteric Syndrome 1	Hepatomegaly, Wide nose, Anteverted nares, Increased mean platelet volume, Avascular necrosis of ...	OMIM:222470
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Sinusitis, Aplasia of the thymus, Atypical or prolonged he...	ORPHA:83471
8P11.2 Deletion Syndrome	Hemolytic anemia, Sacral dimple, Depressed nasal bridge, Micrognathia, Splenomegaly, Spherocytosi...	ORPHA:251066
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Sacral dimple, Tapered finger, Wide nasal bridge, Short...	OMIM:613603
2P15P16.1 Microdeletion Syndrome	Sandal gap, Camptodactyly of finger, Prominent nasal bridge, Tapered finger, Metatarsus adductus,...	ORPHA:261349
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Camptodactyly of finger, Osteomalacia, Rickets, Hip dislocation, Genu valgum, ...	OMIM:309000
Ayme-Gripp Syndrome	Mandibular prognathia, Thin upper lip vermilion, Depressed nasal bridge, Tapered finger, Abnormal...	OMIM:601088
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose, Arachnodactyly, Micrognathia	ORPHA:1129
Hydrolethalus	Micromelia, Micrognathia, Postaxial hand polydactyly, Submucous cleft hard palate, Gingival cleft...	ORPHA:2189
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Arthritis, Ascites	ORPHA:36412
Ring Chromosome 7 Syndrome	Mandibular prognathia, Short philtrum, Clinodactyly of the 5th finger, Bifid uvula, Median cleft ...	ORPHA:1449
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Femoral retroversion, Kyphosis, Orofacial cleft, Macroglossia, Scoliosis	ORPHA:79107
Opitz Gbbb Syndrome	Natal tooth, Enlarged ovaries, Anteverted nares, Craniosynostosis, Micrognathia, Cleft lip, Wide ...	ORPHA:2745
Okamoto Syndrome	Exaggerated median tongue furrow, Tented upper lip vermilion, Anteverted nares, Depressed nasal b...	ORPHA:2729
Osteogenesis Imperfecta, Type Vii	Osteopenia, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversion, Bowing of...	OMIM:610682
Aymé-Gripp Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Rocker bottom foot, Craniosynostosis, Tapered f...	ORPHA:1272
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Adnp Syndrome	Joint laxity, Thin upper lip vermilion, Broad hallux, Sandal gap, Depressed nasal bridge, Abnorma...	ORPHA:404448
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Severe B lymphocytopenia, Autoimmune thrombocytopenia, Recurrent pharyngitis, Recurrent upper res...	ORPHA:293978
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Prominent nasal bridge, Broad nasal tip, Micrognathia, Wide nasal bridge, High palate, Scoliosis,...	OMIM:300749
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly...	OMIM:257220
Coccidioidomycosis	Osteomyelitis, Abscess, Eosinophilia, Abnormality of the spleen, Mediastinal lymphadenopathy, Per...	ORPHA:228123
Pyruvate Dehydrogenase E1-Alpha Deficiency	Limb undergrowth, Flexion contracture	ORPHA:79243
Distal 16P11.2 Microdeletion Syndrome	Kyphosis, Arachnodactyly, Prominent nasal bridge, Narrow mouth	ORPHA:261222
Lysinuric Protein Intolerance	Hepatomegaly, Recurrent fractures, Splenomegaly, Osteoporosis, Anemia, Leukopenia, Hemophagocytos...	OMIM:222700
Scapuloperoneal Spinal Muscular Atrophy	Hyperlordosis, Metatarsus adductus, Kyphosis, Small hand, Hip dysplasia, Scoliosis, Clinodactyly	OMIM:181405
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly, Anemia	ORPHA:85450
Coffin-Siris Syndrome 1	Conical tooth, Prominent interphalangeal joints, Short philtrum, High palate, Clinodactyly of the...	OMIM:135900
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:3386
Melkersson-Rosenthal Syndrome	Macroglossia, Furrowed tongue, Cheilitis, Lymphadenopathy	ORPHA:2483
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Joint laxity, Juvenile myelomonocytic leukemia, Anteverted nares, Depressed nasal bridge, Short n...	OMIM:613563
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Intellectual Developmental Disorder, Autosomal Dominant 54	Dental crowding, Widely spaced teeth, Delayed eruption of primary teeth, Neutropenia	OMIM:617799
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Splenomegaly, Leukocytosis, Abnormal sacroiliac joint morphology, Peritonitis, Recurrent pharyngi...	ORPHA:32960
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Tented upper lip vermilion, Tapered finger, Long fingers, Calcaneovalgus d...	ORPHA:521445
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macroglossia, Scoliosis	OMIM:607155
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia	ORPHA:1302
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Anteverted nares, Kyphosis, 2-3 toe syndactyly, Cleft palate, Furrowe...	OMIM:616449
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ...	OMIM:277170
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Micrognathia, Prominent nose, Delayed epiphyseal ossification, Flexion contracture, P...	OMIM:210710
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis, Lymphadenopathy	ORPHA:2221
Papa Syndrome	Arthritis, Limitation of joint mobility, Lymphadenopathy	ORPHA:69126
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Microvesicular hepat...	OMIM:618278
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Aplasia/Hypoplasia of the ulna	ORPHA:2491
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Smith-Lemli-Opitz Syndrome	Dental crowding, Proximal placement of thumb, Micrognathia, Micromelia, 2-3 toe cutaneous syndact...	OMIM:270400
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Scoliosis	OMIM:610743
Microlissencephaly-Micromelia Syndrome	Long philtrum, Short nose, Short neck, Adducted thumb	ORPHA:50810
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,...	OMIM:617821
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Hypohidrosis, Breast aplasia, Sparse hair	ORPHA:2036
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Microretrognathia, Thin upper lip vermilion, Tented upper lip vermilion, Proportionate shortening...	ORPHA:280633
Scrub Typhus	Splenomegaly, Lymphadenopathy	ORPHA:83317
Cockayne Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal dental morphology, Delayed eruption of prim...	ORPHA:191
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Hallux valgus, Joint laxity, Narrow nasal bridge, Dental crowding, Kyphoscoliosis, Prominent nose...	OMIM:300967
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Osteomyelitis, Splenomegaly, Hepatitis, Hepatospleno...	ORPHA:781
Distal Triplication 15Q	Arachnodactyly, Craniosynostosis, Micrognathia, Kyphosis, Flexion contracture, High palate, Scoli...	ORPHA:314588
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Joint stiffness, Short neck, Hyperlordosis, Achilles tendon contracture, Kyphosis, Elb...	ORPHA:98863
Bannayan-Riley-Ruvalcaba Syndrome	Wide nose, Anteverted nares, Micrognathia, Narrow palate, Joint hyperflexibility, Scoliosis, Long...	ORPHA:109
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Micrognathia, Kyphosis, Cleft lip, Spinal canal stenosi...	ORPHA:1724
Floating-Harbor Syndrome	Short neck, Long nose, Hypoplasia of the maxilla, Humeral pseudarthrosis, Oligodontia, Short phil...	ORPHA:2044
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Joint stiffness, Hyperlordosis, Kyphosis, Achilles tendon contracture, Spinal rigidity...	ORPHA:98855
Bartsocas-Papas Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hypoplastic iliac wing, Short phala...	OMIM:263650
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Atypical Rett Syndrome	Short foot, Kyphosis, Small hand, Scoliosis	ORPHA:3095
Occipital Horn Syndrome	Joint laxity, Short humerus, Pelvic bone exostoses, Coxa valga, Capitate-hamate fusion, Kyphosis,...	OMIM:304150
Familial Hypocalciuric Hypercalcemia	Osteomalacia	ORPHA:405
X-Linked Charcot-Marie-Tooth Disease Type 5	Kyphosis, Scoliosis	ORPHA:99014
Rubinstein-Taybi Syndrome 1	Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Flexion contractur...	OMIM:180849
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Brucellosis	Hepatomegaly, Liver abscess, Lung abscess, Osteomyelitis, Hypersplenism, Splenomegaly, Leukocytos...	ORPHA:1304
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Kyphosis, Elbow flexion contracture	OMIM:618138
Donnai-Barrow Syndrome	Depressed nasal bridge, Broad nasal tip, Wide anterior fontanel, Short sternum, Malar flattening,...	OMIM:222448
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Splenomegaly, Neutropeni...	ORPHA:37042
Herpes Simplex Virus Encephalitis	Leukocytosis, Neutrophilia	ORPHA:1930
Fucosidosis	Hepatomegaly, Cardiomegaly, Abnormality of the dentition, Kyphosis, Abnormality of the gallbladde...	ORPHA:349
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Joint laxity, Thin upper lip vermilion, Lumbar hyperlordosis, Progressive flexion contractures, E...	ORPHA:522077
Adenylosuccinase Deficiency	Thin upper lip vermilion, Anteverted nares, Wide mouth, Long philtrum, Short nose, Smooth philtrum	OMIM:103050
Warburg Micro Syndrome 2	Overlapping toe, Prominent nasal bridge, Flexion contracture, Short nose, Clinodactyly of the 4th...	OMIM:614225
Systemic Lupus Erythematosus	Hemolytic anemia, Cheilitis, Oral ulcer, Lymphadenopathy, Abnormal pigmentation of the oral mucos...	ORPHA:536
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Hepatomegaly, Congenital hip dislocation, Limb joint contracture, Coxa valga, Nodular regenerativ...	ORPHA:404454
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Cleft soft palate, Leukocytosis, Flexion contracture, Genu valgum, Downturned corners of mouth, S...	OMIM:619321
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Hepatic failure...	OMIM:276700
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Hypoplastic vertebral bodies, Downturned corners of mouth, Short philtrum, Premature ...	ORPHA:3455
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Ascites, Lymphadenopathy	ORPHA:26790
Proteasome-Associated Autoinflammatory Syndrome 1	Microcytic anemia, Prominent nose, Cardiomegaly, Flexion contracture, Hepatomegaly, Lymphadenopat...	OMIM:256040
Distal Deletion 12Q	Median cleft lip, Broad hallux, Overlapping toe, Micrognathia, Wide anterior fontanel, High, narr...	ORPHA:96149
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Depressed nasal bridge, Anteverted nares, Micrognathia, Cleft palate, Thin vermilion border, High...	OMIM:614080
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia	OMIM:275350
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology, Depressed nasal ridge	ORPHA:1861
Mucopolysaccharidosis Type 2	Irregularity of vertebral bodies, Wide nose, Hepatomegaly, Splenomegaly, Limitation of joint mobi...	ORPHA:580
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Cornelia De Lange Syndrome	Proximal placement of thumb, Micrognathia, Micromelia, Downturned corners of mouth, Widely spaced...	ORPHA:199
Cdags Syndrome	Sagittal craniosynostosis, Kyphosis, Cleft palate, Short clavicles, Lambdoidal craniosynostosis, ...	OMIM:603116
Mucopolysaccharidosis Type 2, Severe Form	Wide nose, Abnormal dental morphology, Camptodactyly of finger, Splenomegaly, Flexion contracture...	ORPHA:217085
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Enteroviral hepatitis, Sinusitis, Septic arthritis, Absent circulating B cells	OMIM:307200
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Narrow nasal bridge, Thin upper lip vermilion, Kyphosis, Flexion contracture, Small h...	ORPHA:398069
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Thin upper lip vermilion, Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodac...	OMIM:619557
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Spastic Paraplegia 46, Autosomal Recessive	Kyphosis, Scoliosis	OMIM:614409
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Kyphosis, Osteoporosis	OMIM:219080
Charge Syndrome	Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Cleft upper lip, Abnormal sof...	ORPHA:138
Emery-Dreifuss Muscular Dystrophy	Back pain, Joint stiffness, Hyperlordosis, Kyphosis, Achilles tendon contracture, Spinal rigidity...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Joint stiffness, Hyperlordosis, Kyphosis, Achilles tendon contracture, Spinal rigidity...	ORPHA:98853
Cardiofaciocutaneous Syndrome	Anteverted nares, Abnormal morphology of ulna, Depressed nasal bridge, Short neck, Submucous clef...	ORPHA:1340
Fontaine Progeroid Syndrome	Mandibular prognathia, Micrognathia, High, narrow palate, Oligodontia, Microdontia, Syndactyly, D...	OMIM:612289
Neurodegeneration With Brain Iron Accumulation 2A	Short nose, Micrognathia	OMIM:256600
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Limitation of joint mobility, Lymphadenopathy, Arthritis, Recurrent ap...	ORPHA:343
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Carious teeth, Conical incisor, Enamel hypoplasia	OMIM:614564
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Erythrodontia, Anisocytosis, Splenomegaly, Osteopo...	ORPHA:79277
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Micrognathia, Tapered finger, Dental malocclusion, Alveolar ridge overgro...	ORPHA:444072
Adams-Oliver Syndrome 5	Syndactyly, Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy, B...	OMIM:616028
Becker Nevus Syndrome	Kyphosis, Abnormal tibia morphology, Spina bifida occulta, Scoliosis	ORPHA:64755
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Prominent nasal bridge, Micrognathia, Kyphosis, High palate, Short philtrum, Radial deviation of ...	OMIM:609944
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Arboleda-Tham Syndrome	Microretrognathia, Mandibular prognathia, Brachydactyly, Thin upper lip vermilion, Sandal gap, De...	OMIM:616268
Witteveen-Kolk Syndrome	Proximal placement of thumb, High, narrow palate, Short philtrum, High palate, Short palm, Clinod...	OMIM:613406
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip, Hypoplasia of the premaxilla, Flat nasal alae, Bilatera...	OMIM:610828
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo...	OMIM:617718
Radio-Renal Syndrome	Depressed nasal bridge, Micromelia, Micrognathia, High, narrow palate, Hypoplasia of the radius, ...	ORPHA:3015
Mucopolysaccharidosis Type 2, Attenuated Form	Wide nose, Abnormal dental morphology, Camptodactyly of finger, Splenomegaly, Flexion contracture...	ORPHA:217093
Lymphatic Filariasis	Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Knee osteoarthritis, Lymph...	ORPHA:2035
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Epiphyseal dysplasia, Congenital hip dislocation, Micrognathia, Splenomegaly, High pa...	OMIM:617913
Staphylococcal Necrotizing Pneumonia	Leukopenia, Leukocytosis, Neutrophilia	ORPHA:36238
Slc39A8-Cdg	Osteopenia, Craniosynostosis, Elbow flexion contracture, Knee flexion contracture, Cutaneous synd...	ORPHA:468699
Trichothiodystrophy 4, Nonphotosensitive	Short nose, Retrognathia, Anteverted nares, Hypoplasia of teeth	OMIM:234050
Gaucher Disease, Type Ii	Hepatomegaly, Splenomegaly, Trismus, Anemia, Thrombocytopenia	OMIM:230900
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Joint laxity, Natal tooth, Broad hallux, Convex nasal ridge, Dental crowding, Avascular necrosis ...	ORPHA:353281
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Prominent nasal bridge, Short toe, Wide nasal bridge, Orofacial cleft, Thin ve...	ORPHA:1519
Van Esch-O'Driscoll Syndrome	Sacral dimple, Depressed nasal bridge, Retrognathia, Downturned corners of mouth, Wide mouth, Sho...	OMIM:301030
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short metacarpal, Sacral dimple, Anteverted nares, Depressed nasal bridge, Dental crowding, Short...	OMIM:617157
Proteus Syndrome	Neoplasm of the thymus, Abnormal finger morphology, Abnormal form of the vertebral bodies, Clinod...	ORPHA:744
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Hepatoerythropoietic Porphyria	Osteopenia, Hemolytic anemia, Erythrodontia, Splenomegaly, Osteoporosis, Osteolysis, Erythroid hy...	ORPHA:95159
Congenital Varicella Syndrome	Micromelia	ORPHA:291
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Cystinosis, Nephropathic	Failure to thrive in infancy, Splenomegaly, Metaphyseal widening, Rickets, Weight loss, Genu valg...	OMIM:219800
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, High, narrow palate, Thick l...	ORPHA:369950
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Brain abscess, Rhizomelia, Depressed nasal bridge, Wide anterior fontanel, Tibial bowing, Femoral...	OMIM:616482
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest...	ORPHA:30391
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Leukocytosis, Oligoarthritis, Chronic lymphatic leukemia, A...	ORPHA:3243
Igg4-Related Submandibular Gland Disease	Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Abnormal pancreas morphology, Lymphadenopath...	ORPHA:449432
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Abnormali...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Abnormali...	ORPHA:353277
C Syndrome	Sacral dimple, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Accessory oral frenulum,...	ORPHA:1308
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose	OMIM:122880
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro...	OMIM:557000
Wiedemann-Steiner Syndrome	Thin upper lip vermilion, Hyperextensibility at elbow, Sacral dimple, Tapered finger, Wide nasal ...	ORPHA:319182
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity	OMIM:615084
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis	OMIM:608885
Chromosome 14Q11-Q22 Deletion Syndrome	Depressed nasal bridge, Micrognathia, Wide nasal bridge, Macroglossia, High palate, Narrow mouth,...	OMIM:613457
White-Kernohan Syndrome	Joint laxity, Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Depressed n...	OMIM:619426
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Osteoporosis,...	ORPHA:77293
Autosomal Recessive Spastic Paraplegia Type 77	Macrodontia of permanent maxillary central incisor, Hip dysplasia, Retrognathia	ORPHA:466722
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Wide nose, Congenital hip dislocation, Prominent nasa...	OMIM:606170
Restrictive Dermopathy	Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia involving the nose, Multiple joint contra...	ORPHA:1662
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Bowing of the long bones	ORPHA:199276
Trisomy 18	Microretrognathia, Camptodactyly of finger, Choanal atresia, Postaxial hand polydactyly, Non-midl...	ORPHA:3380
Brain Malformations With Or Without Urinary Tract Defects	Thin upper lip vermilion, Short nose, Anteverted nares, Narrow mouth	OMIM:613735
Cowden Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, High palate, Scoliosis, Narro...	OMIM:158350
Primrose Syndrome	Hypoplasia of the maxilla, Flexion contracture, Knee flexion contracture, Reduced bone mineral de...	OMIM:259050
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Ulnar bowing, Aplasia/Hypoplasia of the radius, Microdontia	ORPHA:1765
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Thin upper lip vermilion, Tented upper lip vermilion, Prominent nose, Kyphosis, High palate, Shor...	OMIM:619244
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Thoracic scoliosis, Postaxial polydactyly, Knee flexion contracture	OMIM:603387
Alkaptonuria	Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Limited hip move...	OMIM:203500
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, Hypoplastic nasal bridge, Anteverted nares, Sagittal craniosyno...	OMIM:609942
Mend Syndrome	Sacral dimple, Broad hallux, Overlapping toe, Prominent nasal bridge, Micrognathia, Asymmetry of ...	ORPHA:401973
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morphology, Underdevelo...	OMIM:305100
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Calcaneovalgus deformity, Fl...	ORPHA:261537
Ramon Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Narrow palate, Juvenile rheumatoid arthritis, H...	OMIM:266270
Marfan Syndrome	Osteopenia, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limited elbow movement, De...	ORPHA:558
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Micrognathia, Kyphosis, Knee flexion contracture, Overlapping fingers, Lymphopenia, Absent uvula	OMIM:619708
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, High, narrow palate, Abnormal curvature of the vertebral column, Short philtrum, High ...	OMIM:619475
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal...	ORPHA:1333
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Cholangitis, Portal hypertension, Micrognathia, Hypersplenism, Splenomegaly, ...	ORPHA:731
Pallister-Hall Syndrome	Hemivertebrae, Depressed nasal ridge, Bifid uvula, Microretrognathia, Mesoaxial polydactyly, Radi...	ORPHA:672
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Anteverted nares, Kyphosis, Midline defect of the nose, Scoliosis, Short hard ...	ORPHA:1969
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Mediastinal lymphadenopath...	OMIM:181000
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Joint laxity, Mandibular prognathia, Arachnodactyly, Prominent nasal bridge, Hyperlordosis, Kypho...	OMIM:617011
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Hemivertebrae, Downturned corners of mouth, Short philtrum, Bifid uvul...	ORPHA:500150
8Q24.3 Microdeletion Syndrome	Congenital hip dislocation, Micromelia, Cleft maxillary alveolar ridge, Finger clinodactyly, Clin...	ORPHA:508488
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Osteomyelitis, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger	ORPHA:88628
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ...	ORPHA:85165
Carney Triad	Mediastinal lymphadenopathy, Ascites, Anemia, Lymphadenopathy	ORPHA:139411
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Kyphosis, Osteoporosis	OMIM:610489
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity	ORPHA:352447
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Sacral dimple, Prominent nasal bridge, Cleft soft palate, Tapered finger, Abnormal...	ORPHA:268261
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Calcaneovalgus deformity, Fl...	ORPHA:2152
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Vertebral compression fracture, Osteoporosis, Biconcave vertebral bodies	OMIM:219090
Kleefstra Syndrome Due To 9Q34 Microdeletion	Anteverted nares, Protruding tongue, Downturned corners of mouth, Macroglossia, Everted lower lip...	ORPHA:96147
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Kyphosis, Flexion contracture, Scoliosis	OMIM:609541
Koolen-De Vries Syndrome Due To A Point Mutation	Calcaneovalgus deformity, Prominent fingertip pads, Thick nasal alae, Joint laxity, Arachnodactyl...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Calcaneovalgus deformity, Prominent fingertip pads, Thick nasal alae, Joint laxity, Arachnodactyl...	ORPHA:363958
Mesomelic Dysplasia, Savarirayan Type	Hip dislocation, Fibular aplasia, Mesomelia, Short tibia, Dislocated radial head	OMIM:605274
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Cystic angiomatosis of bone, Hepatomegaly, Acute pancreatitis, Man...	OMIM:269700
Microcephalic Primordial Dwarfism, Dauber Type	Prominent nose, Abnormal carpal morphology, Hip dysplasia, Limb undergrowth, Clinodactyly of the ...	ORPHA:319675
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Anteverted nares, Micrognathia, Small hand, Fibular hypoplasia, Hypopla...	ORPHA:444077
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Duplication Of The Pituitary Gland	Abnormality of joint mobility, Supernumerary tooth, Abnormality of the tongue, Cleft palate, Wide...	ORPHA:314621
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Prominent nasal bridge, Underdeveloped nasal alae, Splenomegaly, Wide nasal bridge,...	ORPHA:163746
Mend Syndrome	Microretrognathia, Sacral dimple, Overlapping toe, Broad hallux, Prominent nasal bridge, Microgna...	OMIM:300960
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Short neck, Micrognathia, High, narrow palate, Reduced bone mineral density, Hepatic ...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Short neck, Micrognathia, High, narrow palate, Reduced bone mineral density, Hepatic ...	ORPHA:99228
Monosomy X	Osteopenia, Short neck, Micrognathia, High, narrow palate, Reduced bone mineral density, Hepatic ...	ORPHA:99226
Turner Syndrome	Osteopenia, Short neck, Micrognathia, High, narrow palate, Reduced bone mineral density, Hepatic ...	ORPHA:881
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Broad toe, Anteverted nares, Tapered finger, Long nose, Short thumb, Broad nasal tip, Bulbous nos...	OMIM:619522
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Calcaneovalgus deformity, Fl...	ORPHA:261552
Dystonia 1, Torsion, Autosomal Dominant	Kyphosis, Multiple joint contractures, Scoliosis, Hyperlordosis	OMIM:128100
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Pancytopenia, Neutrophilia, Acute pancreatitis, Stiff neck, Epistaxis, Splenomegaly...	ORPHA:99827
Toriello-Carey Syndrome	Short neck, Micrognathia, Wide anterior fontanel, Cleft palate, Abnormal palate morphology, High ...	ORPHA:3338
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Carious teeth, Splenomegaly, Kyphosis, Flexion contr...	ORPHA:90324
Rett Syndrome	Short foot, Kyphosis, Scoliosis, Abnormality of the dentition	OMIM:312750
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Joint laxity, Microretrognathia, Thin upper lip vermilion, Arachnodactyly, Generalized joint laxi...	OMIM:601776
Familial Mediterranean Fever	Splenomegaly, Peritonitis, Osteoarthritis, Lymphadenopathy, Arthritis, Oral leukoplakia, Ascites,...	ORPHA:342
Trichothiodystrophy 1, Photosensitive	Short nose, Flexion contracture, Retrognathia, Triangular mouth	OMIM:601675
Chikungunya	Epistaxis, Joint stiffness, Periostitis, Cervical lymphadenopathy, Osteolysis, Synovitis, Enthesi...	ORPHA:324625
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Thin upper lip vermilion, Lumbar hyperlordosis, Kyphosis, Osteoporosis, Triphalangeal...	ORPHA:2232
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Cystic angiomatosis of bone, Acute pancreatitis, Hepatomegaly, Man...	OMIM:608594
Williams-Beuren Syndrome	Osteopenia, Flexion contracture, Clinodactyly of the 5th finger, Microdontia, Joint laxity, Antev...	OMIM:194050
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
Multiple Endocrine Neoplasia, Type Iib	Joint laxity, Hyperlordosis, Kyphosis, High, narrow palate, Thick lower lip vermilion, High palat...	OMIM:162300
Schisis Association	Unilateral cleft lip, Cleft palate, Micromelia	ORPHA:63862
Renal And Mullerian Duct Hypoplasia	Short nose, Micrognathia	OMIM:266810
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Pancreatic fibrosis, Hamartoma of tongue, Preaxial hand polydactyly, Postaxial ...	OMIM:263520
Cowden Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, High palate, Scoliosis, Narro...	OMIM:615108
1P36 Deletion Syndrome	Depressed nasal bridge, Camptodactyly of finger, Joint stiffness, Kyphosis, Abnormality of the sp...	ORPHA:1606
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border	OMIM:620114
Orofaciodigital Syndrome Type 14	Microretrognathia, Broad hallux, Deviation of the hallux, Accessory oral frenulum, Hamartoma of t...	ORPHA:434179
Myasthenic Syndrome, Congenital, 20, Presynaptic	Arthrogryposis multiplex congenita, Kyphosis, Scoliosis	OMIM:617143
Pelizaeus-Merzbacher Disease	Kyphosis, Scoliosis, Joint stiffness	ORPHA:702
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Conical inciso...	OMIM:149730
Neu-Laxova Syndrome 1	Finger syndactyly, Wide nose, Toe syndactyly, Rocker bottom foot, Micromelia, Cleft upper lip, Sw...	OMIM:256520
Marden-Walker Syndrome	Arachnodactyly, Camptodactyly of finger, Joint stiffness, Metatarsus adductus, Kyphosis, Microgna...	ORPHA:2461
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Conical tooth, Splenomegaly, Concave nasal ridge, Hypodontia	OMIM:612132
Gaucher Disease, Type Iiic	Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly	OMIM:231005
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Wide nose, Depressed nasal bridge, Micromelia, Cleft upper lip, Micrognathia, Preaxial hand polyd...	ORPHA:93271
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Thrombocytopenia, Biliary cirrhosis, Lymphadenopathy...	ORPHA:289390
Cowden Syndrome 6	Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, High palate, Scoliosis, Narro...	OMIM:615109
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Kyphosis, Flexion contracture, Small hand, Short foot, Hip dysplasia, Scoliosis	ORPHA:500055
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis	ORPHA:500180
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip osteoarthritis	OMIM:106300
Phosphoribosylpyrophosphate Synthetase Superactivity	Depressed nasal bridge, Gout, Wide mouth, High palate, Short nose, Convex nasal ridge	OMIM:300661
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Anteverted nares, Cleft soft palate, Micrognathia, Short neck, Wide nasal bridge, Submucous cleft...	ORPHA:2282
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Joint laxity, Mandibular prognathia, Thin upper lip vermilion, Sandal gap, Short neck, Broad nasa...	OMIM:620330
Apolipoprotein C-Ii Deficiency	Splenomegaly, Pancreatitis, Hepatomegaly	OMIM:207750
Alexander Disease	Osteopenia, Hyperlordosis, Short neck, Kyphosis, High palate, Scoliosis	ORPHA:58
Blau Syndrome	Camptodactyly of finger, Splenomegaly, Limitation of joint mobility, Synovitis, Lymphadenopathy, ...	ORPHA:90340
Igg4-Related Ophthalmic Disease	Sinusitis, Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Lymphadenopathy, Abnormality of t...	ORPHA:449563
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Aplasia of the nasal bone, Kyphoscoliosis, Joint stiffness, Micrognathia, Long philtr...	OMIM:618820
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors	OMIM:610706
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Broad hallux, Hamartoma of tongue, Micrognathia, Cleft lip, Posta...	OMIM:615948
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Joint laxity, Mandibular prognathia, Lumbar hyperlordosis, Arachnodactyly, Prominent nasal bridge...	ORPHA:457359
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Short nose, Decreased liver function	OMIM:614863
1P21.3 Microdeletion Syndrome	Micrognathia, Broad nasal tip, Wide mouth, Short nose, Joint hypermobility	ORPHA:293948
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Depressed nasal bridge, Micrognathia, Humeroradial synostosis, H...	ORPHA:3404
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Conical tooth, Micrognathia, Supernumerary tooth, Widely spaced teeth, Hypodontia, Microdontia	ORPHA:90024
Yunis-Varon Syndrome	Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Micrognathia, Short metatar...	OMIM:216340
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestas...	OMIM:613471
Frontofacionasal Dysplasia	Underdeveloped nasal alae, Cleft upper lip, Orofacial cleft, Bifid nose, Midline defect of the no...	OMIM:229400
Linear Skin Defects With Multiple Congenital Anomalies 3	Delayed eruption of primary teeth, Thyroid C cell hyperplasia	OMIM:300952
Pontocerebellar Hypoplasia, Type 17	Microretrognathia, Kyphosis	OMIM:619909
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Depressed nasal bridge, Hamartoma of tongue, Aplastic clavicle, Accessory oral frenulum, Postaxia...	OMIM:616546
Odontoonychodermal Dysplasia	Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary...	OMIM:257980
Rett Syndrome, Congenital Variant	Thin upper lip vermilion, Depressed nasal bridge, Kyphosis, Bulbous nose, Scoliosis	OMIM:613454
Pallister-Killian Syndrome	Congenital hip dislocation, Tented upper lip vermilion, Short neck, Micrognathia, Flexion contrac...	OMIM:601803
Marburg Hemorrhagic Fever	Lymphopenia, Reticulocytosis, Jaundice, Neutrophilia in presence of infection, Lymphadenopathy, L...	ORPHA:99826
Branchiooculofacial Syndrome	Proximal placement of thumb, Short neck, Micrognathia, Clinodactyly of the 5th finger, Ectopic th...	OMIM:113620
Digeorge Syndrome	Pilonidal sinus, Micrognathia, Thrombocytopenia, Splenomegaly, High, narrow palate, Cleft palate,...	OMIM:188400
Acromegaly	Mandibular prognathia, Broad jaw, Wide nose, Macrodactyly, Tapered finger, Abnormality of the den...	ORPHA:963
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Multiple joint contractures, Narrow nasal tip, Pro...	ORPHA:464306
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic adenocarcinoma, Pancreatoblastoma, Neoplasm of the thymus, Intra-oral hyperpigmentatio...	ORPHA:99889
Somatomammotropinoma	Mandibular prognathia, Broad jaw, Wide nose, Macrodactyly, Tapered finger, Abnormality of the den...	ORPHA:314769
Brown-Vialetto-Van Laere Syndrome 1	Kyphosis, Tongue atrophy, Tongue fasciculations, Scoliosis	OMIM:211530
Peters Plus Syndrome	Thin upper lip vermilion, Sacral dimple, Toe syndactyly, Anteverted nares, Depressed nasal bridge...	ORPHA:709
Generalized Arterial Calcification Of Infancy	Failure to thrive in infancy, Osteomalacia, Stippled calcification of the shoulder, Abnormal calc...	ORPHA:51608
Glycogen Storage Disease Ic	Hepatomegaly, Stomatitis, Cyclic neutropenia, Chronic pancreatitis, Recurrent upper respiratory t...	OMIM:232240
Sotos Syndrome	Joint laxity, Hip contracture, Sacrococcygeal teratoma, Ankle flexion contracture, Craniosynostos...	ORPHA:821
Shprintzen Omphalocele Syndrome	Lumbar hyperlordosis, Kyphosis, Flared nostrils, Wide nasal bridge, Short columella, Thin vermili...	OMIM:182210
17Q11 Microdeletion Syndrome	Osteopenia, Depressed nasal bridge, Bowing of the legs, Kyphosis, Osteoporosis, Osteolysis, Diaph...	ORPHA:97685
Cowden Syndrome	Enlarged polycystic ovaries, Kyphosis, Bone cyst, Furrowed tongue, Macroglossia, High palate, Sco...	ORPHA:201
Postencephalitic Parkinsonism	Kyphosis, Open mouth, Camptocormia	ORPHA:97349
Toriello-Lacassie-Droste Syndrome	Brachydactyly, Anteverted nares, Short nose, Short palm	ORPHA:3339
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Short phalanx of finger, Micromelia, Brachydactyly	OMIM:600092
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Prominent nasal bridge, Ankle flexion contracture, Tapered finger, Kyphosis, Short toe, Short foo...	ORPHA:464311
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:100078
Cerebrocostomandibular Syndrome	Tracheomalacia, Micrognathia, Kyphosis, Cleft palate, Glossoptosis, Clinodactyly of the 5th finge...	ORPHA:1393
Igg4-Related Kidney Disease	Eosinophilia, Retroperitoneal fibrosis, Lymphadenitis, Abnormal mesentery morphology, Lymphadenop...	ORPHA:449395
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, High palate, High, narrow palate, Scoliosis	OMIM:177850
Neurofibromatosis Type 1	Recurrent fractures, Joint stiffness, Kyphosis, Genu valgum, Chronic myelogenous leukemia, Slende...	ORPHA:636
Behçet Disease	Splenomegaly, Oral ulcer, Lymphadenopathy, Arthritis, Recurrent aphthous stomatitis, Pancreatitis	ORPHA:117
Molybdenum Cofactor Deficiency, Complementation Group B	Short nose, Thick vermilion border, Long philtrum	OMIM:252160
Molybdenum Cofactor Deficiency, Complementation Group A	Short nose, Thick vermilion border, Long philtrum	OMIM:252150
Chromosome Xq26.3 Duplication Syndrome	Kyphosis, Widely spaced teeth	OMIM:300942
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Clubbing of fingers, Lymphadenopathy	ORPHA:199241
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Lymphadenopathy, Enlargement of parotid gland, Abnormal salivary gland ...	ORPHA:79078
Autosomal Recessive Ataxia, Beauce Type	Kyphosis, Scoliosis	ORPHA:88644
Viss Syndrome	Micrognathia, High, narrow palate, Generalized joint laxity, High palate, Broad uvula, Bifid uvul...	OMIM:619472
Pancreatoblastoma	Abnormal lymph node morphology	ORPHA:677
Mowat-Wilson Syndrome	Delayed eruption of teeth, Supernumerary nipple, Cryptorchidism, Submucous cleft hard palate, Cle...	OMIM:235730
Tooth Agenesis, Selective, 4	Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ...	OMIM:150400
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal pelvis bone morphology, Camptodactyly of finger, Choanal atresia, Abnormal dental enamel...	ORPHA:2273
Lymphedema-Distichiasis Syndrome	Kyphosis, Cleft palate, Cleft upper lip, Micrognathia	OMIM:153400
Apc-Related Attenuated Familial Adenomatous Polyposis	Odontoma, Supernumerary tooth	ORPHA:247806
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor	OMIM:300291
Yellow Fever	Acute pancreatitis, Neutrophilia, Jaundice, Leukocytosis, Pancreatic hyperplasia, Thrombocytopenia	ORPHA:99829
Leptospirosis	Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Thrombocytopenia	ORPHA:509
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Long philtrum, Thick lower lip vermilion, Mesiodens, Narrow mouth	ORPHA:314647
Alström Syndrome	Thoracic scoliosis, Abnormality of dental color, Gingivitis, Hepatic fibrosis, Hepatic steatosis,...	ORPHA:64
Lipodystrophy, Familial Partial, Type 7	Short nose, Recurrent pancreatitis, Narrow nasal ridge, Narrow mouth	OMIM:606721
Autosomal Recessive Spastic Paraplegia Type 35	Kyphosis	ORPHA:171629
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Scoliosis	OMIM:619482
Penile Agenesis	Short nose, Depressed nasal bridge	ORPHA:49

Histopathology

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

There is no histopathology data for Tnfrsf11a

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 Tnfrsf11a.

No publications found that use IMPC mice or data for Tnfrsf11a.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Tnfrsf11a^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, 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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