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Gene: Csf1 MGI:1339753

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

colony stimulating factor 1 (macrophage)

Synonyms:

BAP025, Csfm, M-CSF, CSF-1, colony-stimulating factor-1

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 Csf1 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 Csf1 (0 diseases)
Human diseases predicted to be associated with Csf1 (2050 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Csf1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated circulating creatine kinase concentration	ORPHA:206599
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Abnormal cementum morphology, Mandibular osteomyelitis, Peri...	ORPHA:83451
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Mandibular osteomyelitis, Carious teeth, Extramedullary hematopoiesis, Cra...	OMIM:259710
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn...	ORPHA:1802
Osteopetrosis, Autosomal Recessive 1	Carious teeth, Failure to thrive, Flared metaphysis, Pathologic fracture, Osteomyelitis, Pancytop...	OMIM:259700
Osteopetrosis, Autosomal Dominant 1	Abnormal pelvic girdle bone morphology, Mandibular pain, Thickened cortex of long bones, Torus pa...	OMIM:607634
Osteochondrosis Of The Metatarsal Bone	Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o...	ORPHA:564003
Gnathodiaphyseal Dysplasia	Broad jaw, Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of lo...	ORPHA:53697
Osteopetrosis, Autosomal Dominant 2	Hip osteoarthritis, Bone marrow hypocellularity, Mandibular osteomyelitis, Abnormal pelvic girdle...	OMIM:166600
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Splenomegaly, Hepatomegaly, Osteopetrosis, Thrombocytopenia, Anemia	OMIM:615085
Intermediate Osteopetrosis	Abnormality of the dentition, Erlenmeyer flask deformity of the femurs, Dental malocclusion, Cort...	ORPHA:210110
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Hepatomegaly, Osteopetrosis, Thrombocytopenia, Anemia, Increased b...	OMIM:611490
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Toe clinodactyly, Dentinogenesis imperfecta, Limitation of joint mobility, Upper limb undergrowth...	ORPHA:166277
Eiken Syndrome	Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Decreased body weight, Mu...	OMIM:600002
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration	ORPHA:2843
Osteoglosphonic Dysplasia	Severe short stature, Rhizomelia, Delayed skeletal maturation, Tooth agenesis, Failure to thrive ...	ORPHA:2645
Pyle Disease	Mandibular prognathia, Carious teeth, Absent paranasal sinuses, Delayed eruption of teeth, Persis...	OMIM:265900
X-Linked Intellectual Disability, Van Esch Type	Coronal craniosynostosis, Male hypogonadism, Retrognathia, Failure to thrive, Absence of secondar...	ORPHA:163976
Hyperostosis Corticalis Generalisata	Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Diaphyseal u...	ORPHA:3416
Osteogenesis Imperfecta, Type Xxii	Dentinogenesis imperfecta, Slender long bone, Intrauterine growth retardation, Bowing of the long...	OMIM:619795
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Finger clinodactyly, Widely spaced teeth, Periapical tooth abscess, Enamel hy...	ORPHA:3352
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Abnormal cortical bone morphology, Torus palatinus, Generalized osteos...	ORPHA:2790
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormal cortical bone morphology, Splenomegaly, Abnormal limb bone morphology, Hepatomegaly, Inc...	ORPHA:2204
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Sclerosteosis	Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand, Abnormal corti...	ORPHA:3152
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Dentinogenesis imperfecta, Cone-shaped epiphysis, Delayed eruption of teeth, Short stature, Osteo...	ORPHA:71267
Normosmic Congenital Hypogonadotropic Hypogonadism	Sparse body hair, Non-obstructive azoospermia, Absence of pubertal development, Cryptorchidism, I...	ORPHA:432
Osteogenesis Imperfecta, Type V	Osteopenia, Dentinogenesis imperfecta, Abnormal pelvic girdle bone morphology, Anterior radial he...	OMIM:610967
Albers-Schönberg Osteopetrosis	Abnormality of the dentition, Short distal phalanx of finger, Mandibular osteomyelitis, Carious t...	ORPHA:53
Mazabraud Syndrome	Recurrent fractures, Fibrous dysplasia of the bones, Bone pain	ORPHA:57782
Osteopetrosis, Autosomal Recessive 9	Cortical sclerosis, Pathologic fracture, Postnatal growth retardation, Osteopetrosis, Anemia, Inc...	OMIM:620366
Premature Ovarian Failure 2B	Abnormality of the dentition, Female infertility, Premature ovarian insufficiency, Delayed pubert...	OMIM:300604
Osteogenesis Imperfecta, Type Xix	Severe short stature, Osteopenia, Dentinogenesis imperfecta, Rhizomelia, Bowing of the arm, Joint...	OMIM:301014
Osteopetrosis, Autosomal Recessive 6	Cortical sclerosis of the iliac wing, Erlenmeyer flask deformity of the femurs, Osteopetrosis, De...	OMIM:611497
Monosomy 5P	Small hand, Microretrognathia, Finger syndactyly, Intrauterine growth retardation, Joint hypermob...	ORPHA:281
Osteopetrosis, Autosomal Recessive 3	Dental malocclusion, Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Oste...	OMIM:259730
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteoporosis, Abnormality of the dentition, Hypogonadotropic hypogonadism, Osteopenia	OMIM:615269
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the distal phalanges ...	ORPHA:1879
Osteogenesis Imperfecta, Type Xii	Dentinogenesis imperfecta, Hypermobility of interphalangeal joints, Delayed eruption of teeth, Bo...	OMIM:613849
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Micrognathia, Hepatomegaly, Decre...	OMIM:259720
Marbach-Rustad Progeroid Syndrome	Growth delay, Eruption failure, Intrauterine growth retardation, Micrognathia, Narrow mouth, Dela...	OMIM:619322
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Osteopathia Striata-Cranial Sclerosis Syndrome	High, narrow palate, Bifid uvula, Severe short stature, High iliac wing, Coarse metaphyseal trabe...	ORPHA:2780
Regional Odontodysplasia	Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental...	ORPHA:83450
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Postnatal growth retardation, ...	ORPHA:289157
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:179494
Ck Syndrome	Dental crowding, Retrognathia, Slender build, Micrognathia, Abnormal cortical bone morphology, Ma...	OMIM:300831
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Sparse pubic hair, Decreased serum testosterone con...	ORPHA:52901
X-Linked Intellectual Disability, Cilliers Type	Coronal craniosynostosis, Male hypogonadism, Failure to thrive, Absence of secondary sex characte...	ORPHA:163971
Eiken Syndrome	Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Abnormal fingertip morpholo...	ORPHA:79106
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Osteopetrosis, Abnormal metaphysis morphology	ORPHA:1522
Pituicytoma	Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ...	ORPHA:251623
Odontochondrodysplasia 1	Dentinogenesis imperfecta, Metaphyseal cupping, Delayed eruption of teeth, Long philtrum, Irregul...	OMIM:184260
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Metaphyseal cupping, Elevated circulating parathyroid hormone level, Flared metaphysi...	OMIM:619073
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Growth delay, Intrauterine growth retardation, Splenomegaly, Osteopetrosis, Hepatomegaly, Short s...	OMIM:618541
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition, Cortical sclerosis	OMIM:125440
Short Stature, Dauber-Argente Type	Osteopenia, Delayed eruption of teeth, Decreased fibular diameter, Postnatal growth retardation, ...	OMIM:619489
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Micrognathia, Clinodactyly of the 5th finger, Decreased body weight, Osteopetrosis, Short stature...	OMIM:617306
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil...	ORPHA:90793
Familial Expansile Osteolysis	Pathologic fracture, Bone pain, Fragile teeth, Bowing of the long bones, Thin bony cortex, Osteol...	OMIM:174810
Grant Syndrome	Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Open bite, Micrognathia...	ORPHA:2097
Desmosterolosis	Severe short stature, Bifid uvula, Retrognathia, Failure to thrive, Intrauterine growth retardati...	ORPHA:35107
Dentin Dysplasia	Abnormal dental enamel morphology, Increased bone mineral density, Abnormal dental morphology	ORPHA:1653
Bdv Syndrome	Central hypothyroidism, Decreased serum testosterone concentration, Obesity, Micrognathia, Hyperi...	OMIM:619326
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Carious teeth, Fibular bowing, Hypophosphatemia, Secondary hyper...	OMIM:277440
Osseous Heteroplasia, Progressive	Ankylosis, Ectopic ossification in muscle tissue, Limb undergrowth	OMIM:166350
Osteosclerotic Metaphyseal Dysplasia	Failure to thrive, Dense metaphyseal bands, Clavicular sclerosis, Metaphyseal dysplasia, Increase...	OMIM:615198
Osteogenesis Imperfecta, Type Ix	Dentinogenesis imperfecta, Disproportionate short-limb short stature, Bowing of limbs due to mult...	OMIM:259440
Osteoglophonic Dysplasia	Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Broad phalanx, High palate, Short fo...	OMIM:166250
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Premature osteoa...	OMIM:130060
Mueller-Weiss Syndrome	Tibiofibular diastasis, Sclerosis of foot bone, Tibial torsion, Abnormality of the os naviculare ...	ORPHA:566943
Metaphyseal Chondrodysplasia, Spahr Type	Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Disproportionate shor...	ORPHA:2501
Proteus Syndrome	Mandibular hyperostosis, Facial hyperostosis, Open mouth, Splenomegaly, Thin bony cortex, Calvari...	OMIM:176920
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Male hypogonadism, Sparse pubic hair, Abnormality of the Leydig cells, Decreased circulating dihy...	OMIM:228300
Congenital Disorder Of Glycosylation, Type Iik	Failure to thrive, Malar flattening, Joint hypermobility, Elevated circulating creatine kinase co...	OMIM:614727
Gorham-Stout Disease	Osteopenia, Abnormal facial skeleton morphology, Abnormality of the temporomandibular joint, Cort...	ORPHA:73
Avascular Necrosis Of Femoral Head, Primary, 1	Generalized osteoporosis, Avascular necrosis of the capital femoral epiphysis	OMIM:608805
Familial Osteodysplasia, Anderson Type	Tooth malposition, Aplastic clavicle, Carious teeth, Failure of eruption of permanent teeth, Bifi...	ORPHA:2769
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn...	ORPHA:168563
Trichodentoosseous Syndrome	Taurodontia, Increased bone mineral density, Microdontia, Widely spaced teeth	OMIM:190320
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv...	ORPHA:166119
Autosomal Recessive Malignant Osteopetrosis	Abnormal epiphysis morphology, Delayed eruption of teeth, Growth delay, Premature loss of primary...	ORPHA:667
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Primary amenorrh...	ORPHA:2232
X-Linked Hypophosphatemia	Limitation of joint mobility, Genu valgum, Bowing of the long bones, Tooth abscess, Genu varum, V...	ORPHA:89936
Oligodontia	Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l...	ORPHA:99798
Metatropic Dysplasia	Severe short stature, Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Cam...	ORPHA:2635
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Fibular bowing, Hypophosphatemia, Secondary hyperparathyroidism,...	OMIM:264700
Weismann-Netter Syndrome	Severe short stature, Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip b...	ORPHA:3344
Leydig Cell Hypoplasia	Cryptorchidism, Male pseudohermaphroditism, Abnormal internal genitalia, Primary amenorrhea, Fema...	ORPHA:755
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Elevated circulating luteinizing hormone level, Sparse body hair, Decreased fertility, Cryptorchi...	ORPHA:90796
Chromosome Xq27.3-Q28 Duplication Syndrome	Sparse body hair, Hypogonadism, Decreased testicular size, Decreased serum testosterone concentra...	OMIM:300869
Mccune-Albright Syndrome	Increased circulating cortisol level, Increased circulating prolactin concentration, Osteomalacia...	ORPHA:562
Hypocalcemic Vitamin D-Resistant Rickets	Abnormality of the dentition, Hyperparathyroidism, Coarse metaphyseal trabecularization, Osteomal...	ORPHA:93160
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Rickets, Elevated circulating parathyroid hormone level, Osteomalac...	OMIM:307800
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Osteopenia, Delayed skeletal maturation, Postnatal growth retardation, Joint hypermobility, 2-3 t...	ORPHA:2324
Majeed Syndrome	Failure to thrive, Osteomyelitis, Leukocytosis, Splenomegaly, Increased susceptibility to fractur...	ORPHA:77297
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Abnormal epiphysis morphology, Abnormal hip bone morphology, Abnormal cortic...	ORPHA:970
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Splenomegaly, Femur fracture, Hepatomegaly, Osteopetrosis, A...	OMIM:612301
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay	Osteopenia, Recurrent fractures	OMIM:619884
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal...	ORPHA:90791
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Splenomegaly, Gingivitis, Hepatomegaly, Anemia, Recurrent fractures, Premature loss o...	OMIM:618107
Pycnodysostosis	Small hand, Carious teeth, Hypoplastic iliac wing, Hepatosplenomegaly, Micrognathia, Delayed erup...	ORPHA:763
49,Xxxyy Syndrome	Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De...	ORPHA:261534
Osteogenesis Imperfecta, Type Xiii	Dentinogenesis imperfecta, Long philtrum, Increased bone mineral density, Wide distal femoral met...	OMIM:614856
Osteogenesis Imperfecta, Type Iii	Dentinogenesis imperfecta, Wide anterior fontanel, Neonatal short-limb short stature, Disproporti...	OMIM:259420
Lethal Congenital Contracture Syndrome Type 1	Limitation of joint mobility, Slender long bone, Abnormal hip bone morphology, Micrognathia, Abno...	ORPHA:1486
46,Xy Sex Reversal 11	Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co...	OMIM:273250
Osteopetrosis With Renal Tubular Acidosis	Tooth malposition, Pancytopenia, Micrognathia, Narrow mouth, Elliptocytosis, Hepatomegaly, High p...	ORPHA:2785
Buschke-Ollendorff Syndrome	Joint stiffness, Osteopoikilosis, Flexion contracture	OMIM:166700
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test...	OMIM:614841
Winchester Syndrome	Carpal osteolysis, Gingival overgrowth, Osteolysis involving tarsal bones, Generalized osteoporos...	OMIM:277950
49,Xyyyy Syndrome	Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De...	ORPHA:99330
Flynn-Aird Syndrome	Carious teeth, Joint stiffness, Increased bone density with cystic changes, Osteoporosis, Increas...	OMIM:136300
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Lenz-Majewski Hyperostotic Dwarfism	Limitation of joint mobility, Finger syndactyly, Elbow ankylosis, Abnormal metacarpal morphology,...	ORPHA:2658
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen...	OMIM:614172
46,Xy Partial Gonadal Dysgenesis	Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnormal vagina morphology,...	ORPHA:251510
Hypophosphatasia, Adult	Carious teeth, Rickets, Osteomalacia, Pathologic fracture, Premature loss of primary teeth, Incre...	OMIM:146300
Melnick-Needles Syndrome	Tooth malposition, Craniofacial hyperostosis, Short distal phalanx of finger, Delayed eruption of...	ORPHA:2484
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val...	OMIM:600785
Progeria-Short Stature-Pigmented Nevi Syndrome	Insulin-resistant diabetes mellitus, Microcytic anemia, Hepatic steatosis, Low posterior hairline...	ORPHA:2959
Rothmund-Thomson Syndrome	Carious teeth, Aplastic anemia, Aplasia/Hypoplasia of the patella, Neutropenia, Leukemia, Osteope...	ORPHA:2909
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormality of iron homeostasis, Increased circulating ferritin concentration, Decreased serum te...	ORPHA:465508
Hypophosphatemic Rickets, Autosomal Dominant	Abnormality of the dentition, Rickets, Osteomalacia, Hypophosphatemic rickets, Hypophosphatemia, ...	OMIM:193100
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Osteogenesis Imperfecta, Type Xxiii	Osteopenia, Shallow acetabular fossae, Recurrent fractures, Genu valgum, Broad femoral head, Trun...	OMIM:620639
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Retrognathia, Abnormal number of incisors, Finger clinodactyly, Cryptorchidism, Bilateral talipes...	ORPHA:2958
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Failure to thrive, Growth delay, Enlargement of the wri...	OMIM:600081
Hypergonadotropic Hypogonadism-Cataract Syndrome	Secondary growth hormone deficiency, Absence of secondary sex characteristics, Increased circulat...	ORPHA:2410
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Osteomalacia, Hypocalcemia, Tooth abscess, Iron deficiency anemia, Hypophosphatemia, Gro...	ORPHA:89937
Forsythe-Wakeling Syndrome	Decreased body weight, Thrombocytopenia, Short stature, Osteoporosis, Growth delay	OMIM:613606
Hypophosphatasia	Abnormality of the dentition, Failure to thrive in infancy, Bowing of the long bones, Short statu...	ORPHA:436
Prieto Syndrome	Abnormality of the dentition, Retrognathia, Clinodactyly, Radial deviation of finger, 11 pairs of...	OMIM:309610
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia, Increased bone mine...	ORPHA:37748
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Broad jaw, Craniosynostosis, Increased bone mineral density	ORPHA:178377
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteoporosis, Osteopenia, Cleft lip, Delayed puberty	OMIM:615271
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Erlenmeyer flask deformity of the femurs, Craniofacial osteosclerosis, Increased skull ossificati...	OMIM:618476
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Obesity, Enamel hypoplasia, Brachydactyly, Short stature, Osteoporosis...	OMIM:612463
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Joint contracture of the hand, Bifid uvula, Dental malocclusion, Delayed eruption of ...	OMIM:612350
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Joint stiffness, Leukopenia, Postnatal growth retardation, Splenomegaly, Joint hyper...	OMIM:620210
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Decreased serum estradiol, Hypogonadism, Decreased testicular size, Reduced response to gonadotro...	OMIM:616030
Cranioectodermal Dysplasia	Abnormality of the dentition, Short distal phalanx of finger, Rhizomelia, Finger syndactyly, Abno...	ORPHA:1515
Fibrous Dysplasia Of Bone	Increased circulating cortisol level, Osteomalacia, Abnormal tibia morphology, Abnormality of the...	ORPHA:249
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Carious teeth, Micrognathia, Genu valgum, Hip contracture, Flattened epiphysis, High palate, Adva...	OMIM:618363
Pseudohypoparathyroidism, Type Ia	Hyperphosphatemia, Delayed eruption of teeth, Short toe, Short finger, Hypogonadism, Hypocalcemic...	OMIM:103580
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ...	OMIM:615285
Rothmund-Thomson Syndrome, Type 1	Conical tooth, Male hypogonadism, Premature ovarian insufficiency, Hypothyroidism, Short stature,...	OMIM:618625
Immunodeficiency 32B	Failure to thrive, Impaired oxidative burst, Splenomegaly, Sinusitis, Eosinophilia, Hepatomegaly,...	OMIM:226990
Autosomal Recessive Primary Microcephaly	Thin upper lip vermilion, Abnormal cortical bone morphology, Short stature, Growth delay	ORPHA:2512
Cole-Carpenter Syndrome 2	Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Dentinogenesis imperfecta, Mic...	OMIM:616294
Hall-Riggs Syndrome	Failure to thrive, Delayed skeletal maturation, Thick lower lip vermilion, Intrauterine growth re...	OMIM:234250
Panhypophysitis	Increased circulating prolactin concentration, Abnormal posterior pituitary morphogenesis, Decrea...	ORPHA:95513
Familial Hyperprolactinemia	Osteopenia, Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhe...	ORPHA:397685
Aredyld Syndrome	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal dental enamel morphol...	ORPHA:1133
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Decreased circulating parathyroid hormone level, Rickets, Failur...	OMIM:241530
Extensor Tendons Of Finger Anomalies	Osteoporosis, Limitation of joint mobility, Camptodactyly of finger	ORPHA:3294
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den...	OMIM:241520
Pseudohypoparathyroidism, Type Ic	Hyperphosphatemia, Delayed eruption of teeth, Elevated circulating parathyroid hormone level, Ele...	OMIM:612462
Ramon Syndrome	Delayed eruption of teeth, Failure to thrive, Abnormal dental enamel morphology, Narrow palate, G...	ORPHA:3019
Gm1-Gangliosidosis, Type Ii	Failure to thrive, Sea-blue histiocytosis, Joint stiffness, Gingival overgrowth, Narrow mouth, Sp...	OMIM:230600
12q14 microdeletion syndrome	Osteopoikilosis, Proportionate short stature	DECIPHER:76
Aggressive Systemic Mastocytosis	Decreased liver function, Pathologic fracture, Bone pain, Hepatosplenomegaly, Pancytopenia, Hyper...	ORPHA:98850
Bruck Syndrome 1	Ankle flexion contracture, Abnormality of the dentition, Elbow flexion contracture, Increased sus...	OMIM:259450
Gaucher Disease Type 1	Gingival bleeding, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Cirrhosis, Hepatomegaly, Oste...	ORPHA:77259
Dysosteosclerosis	Natal tooth, Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Absent frontal sinus...	OMIM:224300
Hypogonadotropic Hypogonadism 25 With Anosmia	Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-...	OMIM:618841
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Spermatogenic Failure 28	Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o...	OMIM:618086
Rothmund-Thomson Syndrome Type 2	Carious teeth, Aplastic anemia, Patellar aplasia, Aplasia/hypoplasia involving bones of the upper...	ORPHA:221016
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy, Anemia, Osteopor...	ORPHA:100024
Osteogenesis Imperfecta, Type Xi	Osteopenia, Dentinogenesis imperfecta, Increased susceptibility to fractures, Joint hypermobility...	OMIM:610968
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ...	OMIM:614897
Autosomal Dominant Severe Congenital Neutropenia	Osteopenia, Aplastic anemia, Periodontitis, Lymphopenia, Recurrent aphthous stomatitis, Oral ulce...	ORPHA:486
Dysosteosclerosis	Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Delayed eruption of teeth, Abnor...	ORPHA:1782
Hyaline Fibromatosis Syndrome	Osteopenia, Failure to thrive, Gingival overgrowth, Progressive flexion contractures, Osteoporosi...	OMIM:228600
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi...	OMIM:615206
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Osteoporosis, Short distal phalanx of finger, Brachydactyly, Joint hypermobility	ORPHA:2787
Dentinogenesis Imperfecta	Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ...	ORPHA:49042
Fgfr2-Related Bent Bone Dysplasia	Incomplete ossification of pubis, Osteopenia, Coronal craniosynostosis, Natal tooth, Extramedulla...	ORPHA:313855
Otopalatodigital Syndrome Type 1	Short distal phalanx of finger, Limitation of joint mobility, Synostosis of carpal bones, Short t...	ORPHA:90650
Frank-Ter Haar Syndrome	Delayed eruption of teeth, Camptodactyly of finger, Joint stiffness, Wide mouth, Gingival overgro...	ORPHA:137834
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Cortical sclerosis, Diaphyseal sclerosis,...	OMIM:122860
Multiple Epiphyseal Dysplasia Type 1	Delayed epiphyseal ossification, Disproportionate short stature, Limitation of joint mobility, Ar...	ORPHA:93308
Amelogenesis Imperfecta	Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior...	ORPHA:88661
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Pseudo-fractures, Delayed eruption of teeth, Osteomalacia, R...	ORPHA:289176
Adenohypophysitis	Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr...	ORPHA:95512
Ossification Of The Posterior Longitudinal Ligament Of Spine	Increased bone mineral density, Ectopic ossification	OMIM:602475
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso...	ORPHA:320401
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D...	OMIM:311300
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi...	ORPHA:3409
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Pathologic fracture, Osteopenia, Bone cyst	OMIM:618193
Rothmund-Thomson Syndrome Type 1	Carious teeth, Aplastic anemia, Patellar aplasia, Neutropenia, Leukemia, Short metacarpal, Genu v...	ORPHA:221008
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Bone pain, Recurrent fractures, Increased spinal bone density	ORPHA:329475
Lowry-Maclean Syndrome	Craniosynostosis, Intrauterine growth retardation, Delayed eruption of teeth, Cleft palate	OMIM:600252
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Isolated Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Cryptorchidism, Elevated circulating creatine kinase concentration, Sh...	ORPHA:408
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Abnormal lower limb bone morphology, Increased susceptibility to fractures, Joint hyp...	ORPHA:2788
Juvenile Paget Disease	Abnormality of the dentition, Coarse metaphyseal trabecularization, Cranial hyperostosis, Bowing ...	ORPHA:2801
Gnathodiaphyseal Dysplasia	Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, ...	OMIM:166260
Arthrogryposis, Distal, Type 12	Ankle flexion contracture, Absent distal interphalangeal creases, Dental crowding, Palmar hyperhi...	OMIM:620545
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Hypophosphatemia, Short stature, Bowing of the legs	OMIM:146350
Cole-Carpenter Syndrome 1	Osteopenia, Coronal craniosynostosis, Dentinogenesis imperfecta, Orbital craniosynostosis, Microg...	OMIM:112240
Lethal Recessive Chondrodysplasia	Micrognathia, Flared elbow metaphyses, Generalized osteosclerosis, Accelerated skeletal maturatio...	ORPHA:1423
Orofaciodigital Syndrome Ii	Postaxial foot polydactyly, Micrognathia, High palate, Syndactyly, Accessory oral frenulum, Hypop...	OMIM:252100
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Cone-shaped epiphyses of the middle phalanges of the hand, Dental crowding, Long phil...	OMIM:190351
Ane Syndrome	Alopecia, Carious teeth, Adrenocorticotropin deficient adrenal insufficiency, Decreased response ...	ORPHA:157954
Bent Bone Dysplasia Syndrome 1	Coronal craniosynostosis, Natal tooth, Hepatosplenomegaly, Micrognathia, Gingival overgrowth, Mal...	OMIM:614592
Metaphyseal Chondrodysplasia, Jansen Type	Severe short stature, Tooth malposition, Osteopenia, Metaphyseal cupping, Pathologic fracture, Mi...	OMIM:156400
Variant Abeta2M Amyloidosis	Arthralgia of the hip, Hepatic amyloidosis, Pathologic fracture, Wrist pain, Knee pain, Abnormal ...	ORPHA:314652
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Sparse pubic hair, Decreased serum testosterone concentration, Decreased testicula...	OMIM:308700
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni...	OMIM:618986
Trichothiodystrophy 6, Nonphotosensitive	Coronal craniosynostosis, Delayed skeletal maturation, Mild intrauterine growth retardation, Incr...	OMIM:616943
Mogs-Cdg	Hepatosplenomegaly, Overlapping fingers, Sensorineural hearing impairment, Hepatomegaly, Alopecia...	ORPHA:79330
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Clinodactyly, Failure to thrive, Delayed skeletal maturation, Postnata...	ORPHA:73272
Autosomal Recessive Spastic Paraplegia Type 26	Decreased serum testosterone concentration, Premature ovarian insufficiency, Pseudobulbar paralysis	ORPHA:101006
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Small hand, Disproportionate short-limb short stature, Hyperphos...	OMIM:618618
Orofaciodigital Syndrome Type 2	Natal tooth, Velopharyngeal insufficiency, Short tibia, Finger syndactyly, Micrognathia, Broad fi...	ORPHA:2751
Osteogenesis Imperfecta, Type Viii	Osteopenia, Dentinogenesis imperfecta, Disproportionate short-limb short stature, Radial bowing, ...	OMIM:610915
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Hypophosphatasia, Infantile	Unossified vertebral bodies, Abnormality of the dentition, Metaphyseal cupping, Disproportionate ...	OMIM:241500
Endosteal Hyperostosis, Autosomal Dominant	Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Dental maloccl...	OMIM:144750
Greenberg Dysplasia	Rhizomelia, Abnormal pelvis bone ossification, Micromelia, Micrognathia, Decreased skull ossifica...	ORPHA:1426
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Decreased circulating parathyroid hormone level, Growth delay, Increased circulating beta-C-termi...	ORPHA:157215
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Osteomalacia, Enlargement of the wrists, Hypophosphatem...	OMIM:300554
Cleft Lip/Palate	Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg...	ORPHA:199306
Optic Atrophy 8	Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia...	OMIM:616648
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Upper limb undergrowth, Aplasia/hypoplasia involving bones o...	ORPHA:75508
Marshall-Smith Syndrome	Retrognathia, Slender long bone, Failure to thrive, Gingival overgrowth, Open mouth, Increased su...	ORPHA:561
Cranio-Osteoarthropathy	Clubbing of toes, Deviation of finger, Abnormal tibia morphology, Joint stiffness, Abnormal corti...	ORPHA:1525
Cleidocranial Dysplasia	Hypoplastic scapulae, Carious teeth, Open bite, Micrognathia, Genu valgum, Decreased skull ossifi...	ORPHA:1452
Camurati-Engelmann Disease	Bone marrow hypocellularity, Mandibular prognathia, Carious teeth, Slender build, Sclerosis of sk...	OMIM:131300
Osteogenesis Imperfecta, Type Iv	Dentinogenesis imperfecta, Femoral bowing present at birth, straightening with time, Increased su...	OMIM:166220
Infantile Systemic Hyalinosis	Severe short stature, Osteopenia, Aplasia/Hypoplasia of the thymus, Failure to thrive, Osteomalac...	ORPHA:2176
Camurati-Engelmann Disease	Carious teeth, Limitation of joint mobility, Abnormal tibia morphology, Slender build, Genu valgu...	ORPHA:1328
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal diaphysis morphology, Short tu...	ORPHA:85184
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Talipes equinovarus, Ad...	OMIM:251450
Refractory Celiac Disease	Normocytic anemia, Hypoalbuminemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology...	ORPHA:398063
Solitary Bone Cyst	Abnormal ilium morphology, Pathologic fracture, Lytic defects of the radius, Abnormal tibia morph...	ORPHA:83468
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa...	ORPHA:231222
Diastrophic Dysplasia	Ulnar deviation of finger, Neonatal short-limb short stature, Abnormal epiphysis morphology, Camp...	ORPHA:628
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Delayed thelarche, Joint hypermobility, Delayed puberty, Hyperinsulinemic hypoglycemia, Primary a...	OMIM:616033
Achondrogenesis Type 1A	Severe short stature, Abnormal enchondral ossification, Long philtrum, Micrognathia, Short foot, ...	ORPHA:93299
Warburg Micro Syndrome 1	Wide nasal bridge, Failure to thrive, Overlapping toe, Micrognathia, Narrow mouth, Cryptorchidism...	OMIM:600118
Adult Idiopathic Neutropenia	Lymphopenia, Recurrent aphthous stomatitis, Neutropenia, Monocytosis, Monocytopenia	ORPHA:2688
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Femoral bowing, Increased susceptibility to fractures, Short stature, Recurrent fract...	OMIM:615066
Craniometadiaphyseal Dysplasia	Osteopenia, Carious teeth, Natal tooth, Absent paranasal sinuses, Dental crowding, Broad long bon...	OMIM:269300
Cerebrooculofacioskeletal Syndrome 1	Joint contracture of the hand, Carious teeth, Delayed eruption of teeth, Long philtrum, Failure t...	OMIM:214150
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Osteogenesis Imperfecta, Type Xvii	Dentinogenesis imperfecta, Hip dislocation, Thin metacarpal cortices, Joint hypermobility, Bowed ...	OMIM:616507
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Dentinogenesis imperfecta, Periodontitis, Retrognathia, Short toe, Growth delay, Obes...	OMIM:619269
Pseudohypoparathyroidism Type 1B	Pituitary resistance to thyroid hormone, Hyperphosphatemia, Delayed eruption of teeth, Elevated c...	ORPHA:94089
Melorheostosis	Failure to thrive, Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthriti...	ORPHA:2485
Osteogenesis Imperfecta, Type X	Osteopenia, Dentinogenesis imperfecta, Rhizomelia, Micrognathia, Genu valgum, Malar flattening, F...	OMIM:613848
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Hyperostosis cranialis interna, Leukopenia, Diaphyseal dysplasia, Th...	OMIM:231095
Weismann-Netter Syndrome	Severe short stature, Fibular bowing, Lateral femoral bowing, Calvarial hyperostosis, Squared ili...	OMIM:112350
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Gout, Type II diabetes mellitus, Hypertriglyceridemia, O...	OMIM:610947
Woodhouse-Sakati Syndrome	Osteopenia, Alopecia, Decreased serum estradiol, Insulin-resistant diabetes mellitus, Hypogonadis...	ORPHA:3464
Perrault Syndrome 1	Increased circulating gonadotropin level, Talipes equinovarus, Primary amenorrhea, Short stature,...	OMIM:233400
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Abnorma...	OMIM:614886
Aarskog-Scott Syndrome	Hypoplasia of the maxilla, Elevated circulating luteinizing hormone level, Failure to thrive, Cle...	OMIM:305400
Spondyloepimetaphyseal Dysplasia, Irapa Type	Synostosis of carpal bones, Limitation of joint mobility, Micromelia, Upper limb undergrowth, Dis...	ORPHA:93351
Linear Verrucous Nevus Syndrome	Hypophosphatemia, Toe syndactyly, Reduced bone mineral density, Short metacarpal	ORPHA:2611
Calvarial Doughnut Lesions With Bone Fragility	Severe short stature, Osteopenia, Carious teeth, Femoral bowing, Osteoporosis, Recurrent fractures	OMIM:126550
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Abnormality of the dentition, Osteopenia, Hypogonadism, Absence of pubertal development, Osteopor...	OMIM:615267
Pachydermoperiostosis	Small hand, Clubbing of toes, Limitation of joint mobility, Abnormal epiphysis morphology, Osteom...	ORPHA:2796
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture ...	ORPHA:93315
Dominant Beta-Thalassemia	Hypoplasia of the musculature, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of...	ORPHA:231226
Odontochondrodysplasia	Dentinogenesis imperfecta, Cone-shaped epiphysis, Square pelvis bone, Retrognathia, Delayed erupt...	ORPHA:166272
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Osteopenia, Abnormality of the dentition, Delayed eruption of teeth, Osteomyelitis, Joint hypermo...	ORPHA:2314
Pycnodysostosis	Narrow palate, Aplastic clavicle, Carious teeth, Persistence of primary teeth, Micrognathia, Dela...	OMIM:265800
Polyendocrine-Polyneuropathy Syndrome	Alopecia, Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicula...	ORPHA:453533
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi...	OMIM:259600
Spermatogenic Failure, X-Linked, 4	Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos...	OMIM:301077
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Pathologic fracture, Hepatic steatosis, Increased susceptibility to fractures, Abnormal long bone...	ORPHA:52430
Ruvalcaba Syndrome	Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Abnormal electroretino...	ORPHA:3121
Hjv Or Hamp-Related Hemochromatosis	Abnormality of iron homeostasis, Abnormality of endocrine pancreas physiology, Increased circulat...	ORPHA:79230
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Hepatic fibrosis, Portal fibrosis, Failure to thrive, Hyperlipidemia, Increased hepat...	ORPHA:369
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Abnormal epiphysis morphology, Delayed eruption of teeth, Short 1st metacarpa...	ORPHA:63442
Van Buchem Disease	Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis	OMIM:239100
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Fractures of the long bones, Abnormal dental morphology, Wide humerus, Micrognathia, ...	ORPHA:319195
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Cortical thickening of long b...	ORPHA:1310
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Bone pain, Leukocytosis, Splenomegaly, Increa...	ORPHA:98849
Familial Isolated Hyperparathyroidism	Osteopenia, Elevated circulating parathyroid hormone level, Hypophosphatemia, Parathyroid adenoma...	ORPHA:99879
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Bone pain, Sclerosis of skull base, Femoral bowing, Increased suscep...	OMIM:602080
Acrodysostosis 1 With Or Without Hormone Resistance	Hyperphosphatemia, Long hallux, Cryptorchidism, Decreased growth hormone responses to growth horm...	OMIM:101800
Raine Syndrome	Natal tooth, Arthrogryposis multiplex congenita, Long hallux, Micrognathia, Narrow mouth, Protrud...	OMIM:259775
Temple-Baraitser Syndrome	Short distal phalanx of finger, Broad thumb, Everted upper lip vermilion, Delayed eruption of tee...	ORPHA:420561
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Rhizomelia, Microretrognathia, Small for gestational age, Tooth agenesis, Joint hyper...	OMIM:616229
Bcard Syndrome	Osteopenia, Abnormality of the dentition, Contracture of the proximal interphalangeal joint of th...	OMIM:612394
Trichorhinophalangeal Syndrome, Type I	Carious teeth, Clinodactyly, Swelling of proximal interphalangeal joints, Micrognathia, Accelerat...	OMIM:190350
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Cleft mandible, Micrognathia, Narrow mouth, Talipes equinovarus, Short hallux, Small...	OMIM:268305
Mycetoma	Painless fractures due to injury, Pathologic fracture, Osteomyelitis, Abnormality of the lymphati...	ORPHA:2583
Osteoporosis	Osteoporosis	OMIM:166710
Congenital Bile Acid Synthesis Defect Type 1	Failure to thrive, Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, J...	ORPHA:79301
Osteosarcoma	Abnormal femoral metaphysis morphology, Pathologic fracture, Abnormal tibial metaphysis morpholog...	ORPHA:668
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Epiphyseal dysplasia, Osteopenia, Hypoplastic ilia, Flared metaphysis, Carpal synostosis, Dysplas...	OMIM:615349
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Bifid uvula, Patchy osteosclerosis, Small hand, Hyperphosphatemia, Long philtrum, Decreased respo...	OMIM:241410
Pseudoachondroplasia	Delayed epiphyseal ossification, Genu valgum, Wind-swept deformity of the knees, Shortening of al...	ORPHA:750
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Intestinal lymphangiectasia, Narrow mouth, Irregular dentition, Pulmonary lymphangiectasia, Campt...	OMIM:616006
Osteogenesis Imperfecta, Type I	Osteopenia, Dentinogenesis imperfecta, Femoral bowing, Increased susceptibility to fractures, Joi...	OMIM:166200
Beta-Thalassemia Major	Hypoplasia of the musculature, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of...	ORPHA:231214
Cystinosis	Type I diabetes mellitus, Rickets, Failure to thrive, Portal hypertension, Hypokalemia, Hypophosp...	ORPHA:213
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Abnormality of canine, Aplasia of the distal phalanx of the 5th finger, Microglossia, Aplasia of ...	ORPHA:364577
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Malar prominence, Intrauterine growth retardation, Micrognathia, Hypogonadotropic hypogonadism, F...	ORPHA:48431
Satb2-Associated Syndrome Due To A Pathogenic Variant	Osteopenia, Bifid uvula, Abnormality of the dentition, Broad thumb, Long philtrum, Postnatal grow...	ORPHA:576283
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Slender finger, Downturned corners of mouth, Long philtrum, Micrognathia, Delayed patellar ossifi...	ORPHA:163649
W Syndrome	Upper lip pit, Broad uvula, Radial bowing, Clinodactyly, Elbow dislocation, Submucous cleft hard ...	ORPHA:2804
Geroderma Osteodysplastica	Severe short stature, Hip dislocation, Abnormal epiphysis morphology, Growth delay, Malar flatten...	ORPHA:2078
Shwachman-Diamond Syndrome	Carious teeth, Aplastic anemia, Pancytopenia, Oral ulcer, Impaired neutrophil chemotaxis, Acute m...	ORPHA:811
Gracile Bone Dysplasia	Slender long bone, Flared metaphysis, Failure to thrive, Ankyloglossia, Decreased skull ossificat...	OMIM:602361
Chondrodysplasia, Blomstrand Type	Flared metaphysis, Micrognathia, Malar flattening, Generalized osteosclerosis, Accelerated skelet...	OMIM:215045
Acrodysostosis	Open bite, Open mouth, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphol...	ORPHA:950
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Severe short stature, Synostosis of carpal bones, Failure...	ORPHA:3238
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Small pituitary gland, Osteopenia, Decreased testicular size, Genu valgum, Cryptorchidism, Primar...	OMIM:614880
Ovarian Dysgenesis 1	Increased circulating gonadotropin level, Osteoporosis, Primary amenorrhea	OMIM:233300
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bone marrow hypocellularity, Oral leukoplakia, Pathologic fracture, Postnatal growth ...	OMIM:612199
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Broad thumb, Delayed skeletal maturation, Short 5th metacarpal, Femoral bowing, Short...	OMIM:619638
Xq12-Q13.3 Duplication Syndrome	Cutaneous finger syndactyly, Anterior creases of earlobe, Cryptorchidism, 2-3 toe syndactyly, Dec...	ORPHA:314389
Dysostosis, Stanescu Type	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Macroglossia, Hypoplasia ...	ORPHA:1798
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Small hand, Broad thumb, Postnatal growth retardation, Micrognathia, Narrow mouth, High palate, S...	ORPHA:251028
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral...	OMIM:166740
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Ophthalmomandibulomelic Dysplasia	Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Limitation of joint mobility...	ORPHA:2741
Mulibrey Nanism	Microglossia, Dental malocclusion, Dental crowding, Growth delay, Intrauterine growth retardation...	OMIM:253250
Singleton-Merten Syndrome 1	Carious teeth, Shallow acetabular fossae, Hypoplastic distal radial epiphyses, Genu valgum, Decre...	OMIM:182250
Cleidocranial Dysplasia 2	Osteopenia, Hypoplasia of the maxilla, Broad thumb, Short distal phalanx of finger, Aplastic clav...	OMIM:620099
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub...	OMIM:119600
Osteogenesis Imperfecta, Type Xviii	Abnormality of the dentition, Micrognathia, Femoral bowing, Joint hypermobility, Bowing of the lo...	OMIM:617952
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Failure to thrive, Hypogonadism, Decreased testicular size, Decreased serum testosterone concentr...	OMIM:201100
Krabbe Disease	Optic atrophy, Hearing impairment, Failure to thrive, Decreased nerve conduction velocity, EEG ab...	OMIM:245200
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Osteomalacia, Enlargement of the wrists, Fibular bowing...	OMIM:300009
Hamamy Syndrome	Hypochromic anemia, Microcytic anemia, Micrognathia, Everted lower lip vermilion, High palate, Sy...	OMIM:611174
45,X/46,Xy Mixed Gonadal Dysgenesis	Micrognathia, Streak ovary, Cryptorchidism, Abnormal scrotum morphology, Low posterior hairline, ...	ORPHA:1772
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Deep philtrum, Micrognathia, Thrombocytopenia	ORPHA:1237
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u...	ORPHA:2563
Sanjad-Sakati Syndrome	Abnormality of the dentition, Patchy osteosclerosis, Small hand, Hyperphosphatemia, Long philtrum...	ORPHA:2323
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Recurrent aphthous stomatitis, Au...	OMIM:301078
Cockayne Syndrome B	Dry hair, Square pelvis bone, Limitation of joint mobility, Abnormal hair morphology, Hypoplastic...	OMIM:133540
Cockayne Syndrome A	Dry hair, Square pelvis bone, Limitation of joint mobility, Hypoplastic iliac wing, Cryptorchidis...	OMIM:216400
Neonatal Severe Primary Hyperparathyroidism	Abnormal metaphysis morphology, Splenomegaly, Hepatomegaly, Short stature, Recurrent fractures	ORPHA:417
Diastrophic Dysplasia	Ulnar deviation of finger, Neonatal short-limb short stature, Disproportionate short-limb short s...	OMIM:222600
Bruck Syndrome 2	Osteopenia, Elbow flexion contracture, Femoral bowing, Increased susceptibility to fractures, Kne...	OMIM:609220
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Reduced natural killer cell count, Cutaneous abscess, Lymphopenia, Persistence of primary teeth, ...	OMIM:619752
Mohr-Tranebjaerg Syndrome	Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p...	ORPHA:52368
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Bone Marrow Failure Syndrome 3	Aplastic anemia, Persistence of hemoglobin F, Pancytopenia, Micrognathia, Oral ulcer, Acute myelo...	OMIM:617052
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Osteoporosis, Mandibular prognathia	OMIM:619971
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De...	OMIM:614839
Osteogenesis Imperfecta	Carious teeth, Abnormal tibia morphology, Micrognathia, Genu valgum, Decreased skull ossification...	ORPHA:666
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteoporosis, Osteopenia, Hypophosphatemia, Increased susceptibility to fractures	OMIM:612287
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Abnormality of the dentition, Secondary growth hormone deficiency, Absence of secondary sex chara...	ORPHA:2235
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo...	OMIM:201000
Delayed Puberty, Self-Limited	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre...	OMIM:619613
Geroderma Osteodysplasticum	Severe short stature, Osteopenia, Hypoplasia of the maxilla, Abnormality of the dentition, Period...	OMIM:231070
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Malar flattening, Short 4th ...	OMIM:118651
Achondrogenesis Type 2	Hypoplastic ilia, Absent vertebral body mineralization, Delayed pubic bone ossification, Delayed ...	ORPHA:93296
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Rickets, Elevated circulating parathyroid hormone level, Hypophosphatemic ri...	OMIM:612089
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Hepatosp...	OMIM:215140
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Low-set ears, Alopecia, Abnormal electroretinogram, Abnormality of pattern visual evoked potentia...	ORPHA:166035
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Unilateral cleft lip, Flared metaphysis, Decreased fibular diameter, Intrauterine gro...	OMIM:616897
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Goiter...	OMIM:274300
Craniometaphyseal Dysplasia, Autosomal Recessive	Flared metaphysis, Facial hyperostosis, Delayed eruption of permanent teeth, Patchy sclerosis of ...	OMIM:218400
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Finger swelling, Limitation of joint mobility, Premature osteoarthritis, Dys...	ORPHA:93284
Auditory Neuropathy, Autosomal Dominant 1	Abnormal auditory evoked potentials, Sensorineural hearing impairment	OMIM:609129
Optic Atrophy 5	Optic atrophy, Abnormality of pattern visual evoked potentials, Optic disc pallor	OMIM:610708
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Carious teeth, Failure to thrive, Delayed skeletal maturation, Exocrine pancreatic in...	OMIM:612714
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Intrauterine growth retardation, Narrow mouth, Abnormal metaphysis morphology, Abnormal metacarpa...	ORPHA:2370
Tooth Agenesis, Selective, X-Linked, 1	Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ...	OMIM:313500
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Toe syndactyly, Elbow flexion contracture, Knee flexion contracture, Hip contracture,...	OMIM:616809
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets, Elevated circulating parathyroid hormone level, Osteomalacia, Hypophosphatem...	OMIM:613388
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Diastema, Bicoronal synostosis, Agenesis of molar, Cryptorchidism, Microdontia, Joint...	OMIM:619718
Partial Chromosome Y Deletion	Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal...	ORPHA:1646
Roifman Syndrome	Epiphyseal dysplasia, Downturned corners of mouth, Long philtrum, Short toe, Postnatal growth ret...	ORPHA:353298
Acrootoocular Syndrome	Micrognathia, Anodontia, Small thenar eminence, Short foot, Short metacarpal, High, narrow palate...	ORPHA:2980
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Tooth agenesis, Micrognathia, Abnormal femur morphology, Abnormal palate morphology, Multiple une...	ORPHA:2063
Bloom Syndrome	Postnatal growth retardation, Azoospermia, Clinodactyly of the 5th finger, Intrauterine growth re...	OMIM:210900
Hutchinson-Gilford Progeria Syndrome	Limitation of joint mobility, Limited hip movement, Ankyloglossia, Micrognathia, Short lingual fr...	ORPHA:740
Temtamy Preaxial Brachydactyly Syndrome	Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Nar...	ORPHA:363417
Hypothyroidism, Congenital, Nongoitrous, 6	Congenital hip dislocation, Delayed eruption of teeth, Delayed skeletal maturation, Increased bod...	OMIM:614450
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Cleft lip, Clinodactyly, Decreased testicular size, Hypogonadotropic hypogonadism, Osteoporosis, ...	OMIM:614838
12Q14 Microdeletion Syndrome	Downturned corners of mouth, Failure to thrive, Abnormality of the spleen, Intrauterine growth re...	ORPHA:94063
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob...	OMIM:114000
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Limitation of joint mobility, Hypoplasia of the zygomatic bone, Micrognathia, Dela...	ORPHA:3145
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteoporosis, Osteopenia, Hypophosphatemia, Increased susceptibility to fractures	OMIM:612286
Fanconi-Bickel Syndrome	Osteopenia, Rickets, Failure to thrive, Abnormal hepatic glycogen storage, Hepatocellular carcino...	ORPHA:2088
Non-Functioning Pituitary Adenoma	Hypopituitarism, Central adrenal insufficiency, Anemia of inadequate production, Decreased fertil...	ORPHA:91349
Boomerang Dysplasia	Finger syndactyly, Micromelia, Abnormal tibia morphology, Decreased response to growth hormone st...	ORPHA:1263
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Dyskeratosis Congenita	Carious teeth, Periodontitis, Cirrhosis, Hepatomegaly, Hypoplasia of the maxilla, Coarse metaphys...	ORPHA:1775
Autosomal Dominant Optic Atrophy Plus Syndrome	Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op...	ORPHA:1215
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Aplasia/hypoplasia involving bones of the extremities, Carious teeth, Flared metaphysis, Delayed ...	ORPHA:93346
Chondrodysplasia With Joint Dislocations, Gpapp Type	Wide nasal bridge, Coronal craniosynostosis, Short toe, Short nose, Micrognathia, Limited elbow e...	OMIM:614078
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Carious teeth, Postnatal growth retardation, Dysplasia of the femoral head, Micrognathia, Arachno...	ORPHA:536467
Autosomal Dominant Kenny-Caffey Syndrome	Carious teeth, Growth delay, Delayed skeletal maturation, Postnatal growth retardation, Persisten...	ORPHA:93325
Kenny-Caffey Syndrome, Type 2	Severe short stature, Hyperphosphatemia, Hypocalcemia, Abnormality of the medullary cavity of the...	OMIM:127000
Peroxisomal Acyl-Coa Oxidase Deficiency	Low-set ears, Optic atrophy, Abnormal electroretinogram, Sensorineural hearing impairment, EEG ab...	ORPHA:2971
Schwartz-Jampel Syndrome, Type 1	Joint contracture of the hand, Pursed lips, Micrognathia, Narrow mouth, Hip contracture, Bowing o...	OMIM:255800
Maffucci Syndrome	Osteolysis, Short stature, Multiple enchondromatosis, Growth delay, Recurrent fractures, Bone pain	ORPHA:163634
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Conical tooth, Failure to thrive, Absent peripheral lymph nodes in presence of infect...	ORPHA:98813
Brachydactyly, Type E1	Type E brachydactyly, Multiple impacted teeth, Short clavicles, Brachydactyly, Short metatarsal, ...	OMIM:113300
H Syndrome	Cleft upper lip, Osteolysis, Microcytic anemia, Delayed skeletal maturation, Hepatosplenomegaly, ...	ORPHA:168569
Spermatogenic Failure 84	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe...	OMIM:620409
Retinal Dystrophy With Or Without Extraocular Anomalies	Premature ovarian insufficiency, Secondary amenorrhea, Goiter	OMIM:617175
Spermatogenic Failure 65	Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph...	OMIM:619712
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Pseudohypoparathyroidism Type 1C	Pituitary resistance to thyroid hormone, Ectopic ossification, Hyperphosphatemia, Delayed eruptio...	ORPHA:79444
Metaphyseal Chondrodysplasia, Schmid Type	Radial metaphyseal irregularity, Genu varum, Disproportionate short-limb short stature, Obesity, ...	ORPHA:174
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteoporosis, Osteopenia, Delayed puberty, Hypogonadism	OMIM:615270
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Abnormality of the dentition, Dental crowding, Eruption failure, Long philtrum, Unilateral radial...	ORPHA:476126
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen...	OMIM:601455
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Carious teeth, Periodontitis, Hepatic steatosis, Oral ulcer, Hepatomegaly, Chronic neutropenia, O...	ORPHA:79259
Functioning Gonadotropic Adenoma	Ovarian cyst, Oligozoospermia, Osteopenia, Decreased response to growth hormone stimulation test,...	ORPHA:91348
Microcephalic Primordial Dwarfism, Toriello Type	Severe short stature, Abnormal epiphysis morphology, Downturned corners of mouth, Delayed skeleta...	ORPHA:2643
Canavan Disease	Optic atrophy, EEG abnormality, Abnormality of visual evoked potentials, Hearing impairment	ORPHA:141
Bone Marrow Failure Syndrome 6	Osteopenia, Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemogl...	OMIM:618849
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Multiple prenatal fractures, Bowing of limbs due to multiple fractures, Disproportionate short-li...	OMIM:259410
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Growth delay, Abnormal dental morphology, Hypophosphatemic rickets, Abnormal finger m...	OMIM:163200
Oculodentodigital Dysplasia	Carious teeth, Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Short hallux, Non-m...	ORPHA:2710
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Failure to thrive, Increased bone mineral density, Short humerus, Lateral femoral bow...	OMIM:239000
Primary Non-Essential Cutis Verticis Gyrata	Abnormality of pattern visual evoked potentials, Gliosis	ORPHA:357225
Woodhouse-Sakati Syndrome	Alopecia, Elevated circulating thyroid-stimulating hormone concentration, Fine hair, Decreased se...	OMIM:241080
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Avascular necrosis of the capi...	OMIM:619377
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Short stature, Osteoporosis	ORPHA:2786
Stüve-Wiedemann Syndrome	Osteopenia, Abnormality of the dentition, Limitation of joint mobility, Smooth tongue, Camptodact...	ORPHA:3206
Combined Oxidative Phosphorylation Deficiency 55	Hypomagnesemia, Mildly elevated creatine kinase, Hypophosphatemic rickets, Open mouth, Single tra...	OMIM:619743
Spinal muscular atrophy, type I, with congenital bone fractures	Osteopenia, Congenital hip dislocation, Arachnodactyly, Multiple prenatal fractures, High palate,...	OMIM:271225
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Abnormal electroretinogram, Abnormality of visual evoked pot...	ORPHA:1933
Spermatogenic Failure 44	Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size...	OMIM:619044
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Reduced bone mineral density, Decreased body weight, Brachydactyly, Short stature, Short femoral ...	OMIM:618392
Spermatogenic Failure 56	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:619515
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating renin level	OMIM:605115
Osteogenesis Imperfecta, Type Vii	Osteopenia, Dentinogenesis imperfecta, Wide anterior fontanel, Rhizomelia, Long philtrum, Crumple...	OMIM:610682
Spermatogenic Failure 63	Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia	OMIM:619689
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology, Sensorineural hearing impairment	ORPHA:2690
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Retrognathia, Small epiphyses, Joint hypermobility, Coxa valga, Adducted thumb, Short long bone, ...	OMIM:620269
Oculocerebrorenal Syndrome Of Lowe	Carious teeth, Periodontitis, Osteomalacia, Open bite, Micrognathia, Open mouth, Cryptorchidism, ...	ORPHA:534
Astley-Kendall Dysplasia	Epiphyseal stippling, Disproportionate short-limb short stature, Micromelia	ORPHA:85175
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myelofibrosis, Myelop...	OMIM:254450
Al-Gazali Syndrome	Osteopenia, Broad distal phalanx of finger, Proximal radio-ulnar synostosis, Failure to thrive, M...	OMIM:609465
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets, Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Short stature, Decreased mean co...	OMIM:611590
Terminal Osseous Dysplasia	Toe clinodactyly, Clinodactyly, Short toe, Camptodactyly of finger, Mesomelic leg shortening, Mal...	OMIM:300244
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Severe short stature, Osteoporosis	OMIM:204730
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Hypoplasia of the maxilla, Flared metaphysis, Short 5th metacarpal, Short middle phalanx of the 2...	OMIM:156510
Elsahy-Waters Syndrome	Shortening of all phalanges of fingers, Cutaneous finger syndactyly, High palate, Hypoplasia of t...	OMIM:211380
Filippi Syndrome	Wide nasal bridge, 2-4 toe syndactyly, Finger clinodactyly, Serrated incisors, Abnormal dental mo...	OMIM:272440
Porphyria, Congenital Erythropoietic	Osteopenia, Joint contracture of the hand, Cholelithiasis, Pathologic fracture, Erythrodontia, Sp...	OMIM:263700
Autosomal Recessive Kenny-Caffey Syndrome	Small hand, Carious teeth, Delayed skeletal maturation, Postnatal growth retardation, Intrauterin...	ORPHA:93324
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Anemia, Short philt...	ORPHA:2325
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv...	OMIM:615897
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs...	OMIM:301059
Spermatogenic Failure 51	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea...	OMIM:619177
Bruck Syndrome	Joint stiffness, Bowing of the long bones, Short stature, Osteoporosis, Arthrogryposis multiplex ...	ORPHA:2771
Classic Galactosemia	Cryptorchidism, Premature ovarian insufficiency, Hepatomegaly, Jaundice, Decreased fertility in f...	ORPHA:79239
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Short stature, Reduced bone mineral density, Genu varum, Delayed ossificat...	OMIM:617974
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Dental malocclusion, Dental crowding, Failure to thrive, Growth delay, Patholo...	OMIM:614008
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Hepatom...	OMIM:614470
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Pathologic fracture, Bone cyst	OMIM:221770
Hajdu-Cheney Syndrome	Periodontitis, Open bite, Micrognathia, Narrow mouth, Decreased skull ossification, Absent fronta...	ORPHA:955
Gaucher Disease Type 3	Delayed skeletal maturation, Pancytopenia, Splenomegaly, Increased susceptibility to fractures, H...	ORPHA:77261
Orofacial Cleft 15	Palate fistula, Cryptorchidism, Single transverse palmar crease, Bilateral cleft palate, Bilatera...	OMIM:616788
Craniolenticulosutural Dysplasia	Hypoplasia of the maxilla, Carious teeth, High iliac wing, Delayed eruption of teeth, Long philtr...	ORPHA:50814
Lowry-Maclean Syndrome	High, narrow palate, Osteopenia, Hypoplasia of the maxilla, Abnormality of the abdominal organs, ...	ORPHA:2409
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Absence of pubertal development, Obesity, Decreased testicular size, Cryptorchidism, Hypogonadotr...	OMIM:610628
Niemann-Pick Disease, Type A	Failure to thrive, Sea-blue histiocytosis, Microcytic anemia, Splenomegaly, Prolonged neonatal ja...	OMIM:257200
Ruijs-Aalfs Syndrome	Clinodactyly, Elbow flexion contracture, Hypogonadism, Micrognathia, Single transverse palmar cre...	OMIM:616200
Trichorhinophalangeal Syndrome Type 2	Wide nasal bridge, Abnormality of the dentition, Long philtrum, Avascular necrosis of the capital...	ORPHA:502
Trichothiodystrophy 2, Photosensitive	Short stature, Agenesis of maxillary lateral incisor	OMIM:616390
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory...	OMIM:125250
Asherman Syndrome	Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O...	ORPHA:137686
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Osteopathia striata, Genu valgum, Hyp...	ORPHA:93357
Oncogenic Osteomalacia	Pathologic fracture, Abnormality of the tarsal bones, Abnormal femur morphology, Fibrous dysplasi...	ORPHA:352540
Developmental And Epileptic Encephalopathy 3	EEG with burst suppression, Abnormality of visual evoked potentials	OMIM:609304
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Osteogenesis Imperfecta, Type Ii	Abnormal pelvic girdle bone morphology, Small for gestational age, Disproportionate short-limb sh...	OMIM:166210
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Obesity	OMIM:618406
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Short stature, Jaundice...	ORPHA:172
Hemochromatosis, Type 1	Increased circulating iron concentration, Increased circulating ferritin concentration, Azoosperm...	OMIM:235200
Xp22.13P22.2 Duplication Syndrome	Small hand, High anterior hairline, Hearing impairment, Congenital diaphragmatic hernia, Polycyst...	ORPHA:284180
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Osteoporosis, Macrovesicular hepatic steatosis, Failure to thrive	OMIM:618234
Tyrosinemia Type 1	Acute hepatic failure, Rickets of the lower limbs, Splenomegaly, Hepatomegaly, Hepatocellular car...	ORPHA:882
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Decreased testicular size, Abnormality of the ovary, Joint hypermobility	ORPHA:1875
Stuve-Wiedemann Syndrome 1	Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal rarefaction, Bowing of the lon...	OMIM:601559
Brachyolmia Type 1, Hobaek Type	Osteopenia, Short iliac bones, Flattened proximal radial epiphyses, Disproportionate short-trunk ...	OMIM:271530
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Cholelithiasis, Rickets, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic cho...	OMIM:211600
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials	OMIM:617523
Failure Of Tooth Eruption, Primary	Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth	OMIM:125350
Cantu Syndrome	Wide nasal bridge, Erlenmeyer flask deformity of the femurs, Broad hallux, Long philtrum, Thick l...	OMIM:239850
Familial Thyroid Dyshormonogenesis	Thyroid defect in oxidation and organification of iodide, Neonatal hyperbilirubinemia, Elevated c...	ORPHA:95716
Warburg Micro Syndrome 2	Undetectable visual evoked potentials, Small scrotum, Optic atrophy, Polymicrogyria, Postnatal gr...	OMIM:614225
Late Infantile Neuronal Ceroid Lipofuscinosis	Abnormal amplitude of flash visual evoked potentials, EEG with spike-wave complexes, EEG with pho...	ORPHA:168491
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Disproportionate short-limb short stature, Intrauterine growth retardation, Joint hypermobility, ...	ORPHA:2772
Rothmund-Thomson Syndrome, Type 2	Small hand, Micrognathia, Cryptorchidism, Talipes equinovarus, High palate, Short foot, Short nos...	OMIM:268400
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Rickets, Large for gestational age, Hepatomegaly, Hypophosphatemia, Short stature, ...	OMIM:616026
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Sparse pubic hair, Hypoplasia of the maxilla, Elevated circulating luteinizing hormone level, Typ...	ORPHA:3044
Osteogenesis Imperfecta, Type Xxi	Disproportionate short-limb short stature, Bowing of the arm, Joint hypermobility, Coxa vara, Ost...	OMIM:619131
Sialidosis Type 2	Splenomegaly, Hepatomegaly, Short stature, Osteoporosis, Flexion contracture	ORPHA:87876
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	EEG with abnormally slow frequencies, EEG with generalized epileptiform discharges, Abnormality o...	ORPHA:1947
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnor...	ORPHA:289548
Splenogonadal Fusion With Limb Defects And Micrognathia	Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors	OMIM:183300
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnor...	ORPHA:168558
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Male hypogonadism, Dental crowding, Micrognathia, Narrow mouth, Cryptorchidism, Hepatic steatosis...	OMIM:615381
Müllerian Aplasia And Hyperandrogenism	High anterior hairline, Hypoplasia of the uterus, Frontal balding, Abnormal vagina morphology, Ab...	ORPHA:247768
Trisomy 9P	Dental crowding, Downturned corners of mouth, Impacted tooth, Brachydactyly, Clinodactyly of the ...	ORPHA:236
Spermatogenic Failure 25	Cryptozoospermia, Decreased testicular size, Non-obstructive azoospermia, Spermatocyte maturation...	OMIM:617960
Frontometaphyseal Dysplasia 1	Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e...	OMIM:305620
Tsh-Secreting Pituitary Adenoma	Increased circulating prolactin concentration, Central adrenal insufficiency, Decreased fertility...	ORPHA:91347
Micro Syndrome	Lissencephaly, Optic atrophy, Macrotia, Low-set, posteriorly rotated ears, Cryptorchidism, Abnorm...	ORPHA:2510
Spermatogenic Failure 40	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia, Hypokalemia, Hypophosphatemia, Short stature	OMIM:134600
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Increased mean corpuscular volume, Extramedullary hematopoiesis, Decreased liver function, Sidero...	OMIM:617021
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,...	OMIM:620222
Spermatogenic Failure 76	Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs...	OMIM:620084
Zimmermann-Laband Syndrome	Bifid uvula, Growth delay, Micrognathia, Wide mouth, Splenomegaly, Supernumerary tooth, Joint hyp...	ORPHA:3473
Morgagni-Stewart-Morel Syndrome	Obesity, Abnormality of the thyroid gland, Hyperuricemia, Hypothyroidism, Hypercholesterolemia, O...	ORPHA:77296
Faciocardiomelic Syndrome	Osteopenia, Dental malocclusion, Slender long bone, Hyperplasia of the maxilla, Long philtrum, La...	OMIM:612731
Acrocraniofacial Dysostosis	Short distal phalanx of finger, Ulnar deviation of finger, Broad thumb, Short 1st metacarpal, Abn...	ORPHA:949
Mesomelic Limb Shortening And Bowing	Retrognathia, Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the arm,...	OMIM:249710
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Parathyroid agenesis, Congenital hypoparathyroid...	ORPHA:2239
Gigantiform Cementoma, Familial	Tooth malposition, Cementoma, Multiple impacted teeth	OMIM:137575
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Clinodactyly, Failure to thrive, Postnatal growth retardation,...	ORPHA:2169
Kenny-Caffey Syndrome, Type 1	Small hand, Carious teeth, Slender long bone, Delayed skeletal maturation, Intrauterine growth re...	OMIM:244460
Peho Syndrome	Undetectable visual evoked potentials, Optic atrophy, Polymicrogyria, Hypsarrhythmia, Pachygyria	OMIM:260565
Perrault Syndrome 4	Decreased serum estradiol, Increased circulating gonadotropin level, Obesity, Cubitus valgus, Hyp...	OMIM:615300
Celiac Disease, Susceptibility To, 1	Type I diabetes mellitus, Rickets, Failure to thrive, Infertility, Recurrent aphthous stomatitis,...	OMIM:212750
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	High, narrow palate, Bifid uvula, Dental crowding, Thick lower lip vermilion, Long hallux, Smooth...	OMIM:309583
Brittle Cornea Syndrome	Abnormality of the dentition, Abnormal epiphysis morphology, Increased susceptibility to fracture...	ORPHA:90354
46,Xx Sex Reversal 2	Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu...	OMIM:278850
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl...	OMIM:619585
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Open mouth, Everted lower lip vermilion, High palate, Short metacarpal...	ORPHA:192
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Limitation of joint mobility, Progress...	OMIM:252500
Lead Poisoning	Delayed eruption of teeth, Imbalanced hemoglobin synthesis, Cranial hyperostosis, Delayed skeleta...	ORPHA:330015
Hypochondroplasia	Disproportionate short-limb short stature, Flared metaphysis, Limited elbow extension, Malar flat...	OMIM:146000
Gapo Syndrome	High, narrow palate, Eruption failure, Long philtrum, Thick lower lip vermilion, Delayed skeletal...	OMIM:230740
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Lymphangioma, Reduced bone mineral density, Recurrent fractures	ORPHA:137608
Pseudohypoparathyroidism Type 1A	Hyperphosphatemia, Calcinosis, Short metacarpal, Broad distal phalanx of the thumb, Ectopic ossif...	ORPHA:79443
Premature Aging Syndrome, Penttinen Type	Short distal phalanx of finger, Hypoplasia of the maxilla, Delayed eruption of teeth, Retrognathi...	OMIM:601812
Spermatogenic Failure 39	Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f...	OMIM:618643
Spinocerebellar Ataxia, Autosomal Recessive 20	Dental crowding, Delayed eruption of teeth, Long philtrum, Clinodactyly, Splenomegaly, Hepatomega...	OMIM:616354
Parathyroid Carcinoma	Polydipsia, Parathyroid carcinoma, Elevated circulating parathyroid hormone level, Pancreatic ade...	ORPHA:143
Hyperparathyroidism, Neonatal Severe	Elevated circulating parathyroid hormone level, Failure to thrive, Hypercalcemia, Splenomegaly, H...	OMIM:239200
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology, Obesity, Episodic hemolytic anemia, Delayed puberty, Short sta...	ORPHA:251004
Immunodeficiency 12	Recurrent aphthous stomatitis, Decreased body weight, Abnormal lymphocyte count, Short stature, O...	OMIM:615468
Spermatogenic Failure 77	Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor...	OMIM:620103
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Hypophosphatemia, Weight loss, Dysphagia, Male inf...	OMIM:219800
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Oocyte/Zygote/Embryo Maturation Arrest 8	Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level	OMIM:619009
Neurodegeneration With Brain Iron Accumulation 2A	Optic atrophy, Hearing impairment, Decreased nerve conduction velocity, Gliosis, Abnormality of v...	OMIM:256600
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Male hypogonadism, Small hand, Obesity, Wrist flexion contracture, EEG with generalized slow acti...	OMIM:300055
Spermatogenic Failure 47	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Low-set ears, Elevated circulating luteinizing hormone level, Hypoplastic scapulae, Limitation of...	ORPHA:95699
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, R...	ORPHA:79303
Charcot-Marie-Tooth Disease, Type 4B1	Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy	OMIM:601382
Familial Peripheral Male-Limited Precocious Puberty	Precocious puberty, Long penis, Abnormal hair morphology, Oligozoospermia, Macroorchidism, Male i...	ORPHA:3000
Fanconi Renotubular Syndrome 5	Genu valgum, Hypophosphatemia, Hypophosphatemic rickets	OMIM:618913
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c...	ORPHA:139507
Achondrogenesis	Severe short stature, Micromelia, Abnormal enchondral ossification, Long philtrum, Micrognathia, ...	ORPHA:932
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa...	OMIM:112250
Aspartylglucosaminuria	Abnormality of the dentition, Carious teeth, Delayed skeletal maturation, Joint stiffness, Gingiv...	ORPHA:93
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Block vertebrae, Abnormal pelvic girdle bone morphology, Failure of eruptio...	OMIM:272460
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Craniofacial osteosclerosis, Abnormal epiphysis morphology, Osteomyelitis, Hyperostosis, Abnormal...	ORPHA:324964
Achondrogenesis Type 1B	Severe short stature, Disproportionate short stature, Abnormal enchondral ossification, Long phil...	ORPHA:93298
Ciliary Dyskinesia, Primary, 37	Hypothyroidism, Female infertility, Right aortic arch, Goiter	OMIM:617577
Hyperparathyroidism, Transient Neonatal	Osteopenia, Fractured rib, Metaphyseal spurs, Femoral bowing, Splenic cyst, Patent ductus arterio...	OMIM:618188
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Optic atrophy, Decreased motor nerve conduction velocity, Mild neurosensory hearing impairment, T...	OMIM:601152
Congenital Disorder Of Glycosylation, Type Iig	Small hand, Shallow acetabular fossae, Giant platelets, Postnatal growth retardation, Micrognathi...	OMIM:611209
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Enlarged metaphyses, Micrognathia, Narrow mouth, Genu valgum, Radioulnar synostosis, Broad distal...	OMIM:245600
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Abnormality of visual evoked potentials	ORPHA:1389
Craniolenticulosutural Dysplasia	Osteopenia, Bifid uvula, Carious teeth, High iliac wing, Delayed eruption of teeth, Long philtrum...	OMIM:607812
Thyroid Hormone Resistance, Generalized, Autosomal Dominant	Goiter, Increased circulating free T3, Attention deficit hyperactivity disorder, Increased circul...	OMIM:188570
Graves Disease	Graves disease, Goiter, Increased circulating free T3, Polyphagia, Weight loss, Increased circula...	OMIM:275000
Lysinuric Protein Intolerance	Hemophagocytosis, Failure to thrive, Delayed skeletal maturation, Leukopenia, Splenomegaly, Hepat...	OMIM:222700
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Contracture of the proximal interphalangeal joint of the 2nd finger, Narrow mouth, Cryptorchidism...	OMIM:300998
Insulin-Like Growth Factor I Deficiency	Osteopenia, Delayed skeletal maturation, Postnatal growth retardation, Intrauterine growth retard...	OMIM:608747
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Micrognathia, Genu valgum, Decreased body...	OMIM:271640
Macs Syndrome	Wide nasal bridge, Long philtrum, Recurrent aphthous stomatitis, Micrognathia, Gingival overgrowt...	OMIM:613075
Immunodeficiency 15B	Reduced natural killer cell count, Failure to thrive, Agammaglobulinemia, Monocytosis, Decreased ...	OMIM:615592
Fanconi-Bickel Syndrome	Hypouricemia, Intrahepatic cholestasis, Rickets, Failure to thrive, Osteomalacia, Postnatal growt...	OMIM:227810
Peroxisome Biogenesis Disorder 3B	Failure to thrive, Hypocholesterolemia, Elevated circulating phytanic acid concentration, Malar f...	OMIM:266510
Spermatogenic Failure 15	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin...	OMIM:616950
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Delayed epiphyseal ossification, Elevated circulating thyroid-stimulating hormone concentration, ...	ORPHA:226313
Gaucher Disease	Gingival bleeding, Pancytopenia, Cirrhosis, Hepatomegaly, Abnormal bone structure, Osteopenia, Ch...	ORPHA:355
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Dubowitz Syndrome	Small hand, Toe syndactyly, Broad thumb, Postnatal growth retardation, Micrognathia, Aplasia/Hypo...	ORPHA:235
Rhizomelic Chondrodysplasia Punctata	Abnormality of the dentition, Rhizomelia, Limitation of joint mobility, Growth delay, Epiphyseal ...	ORPHA:177
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi...	OMIM:617297
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Carpal osteolysis, Osteolysis involving tarsal bones, Increased susceptibility to fra...	ORPHA:371428
White-Sutton Syndrome	Low-set ears, Broad thumb, Failure to thrive, Abnormal electroretinogram, Obesity, Intrauterine g...	OMIM:616364
Mirage Syndrome	Radial club hand, Lymphopenia, Leukopenia, Overlapping fingers, Intrauterine growth retardation, ...	OMIM:617053
Mucopolysaccharidosis, Type Iva	Carious teeth, Hypoplasia of the odontoid process, Widely spaced teeth, Grayish enamel, Wide mout...	OMIM:253000
Blomstrand Lethal Chondrodysplasia	Synostosis of joints, Aplastic clavicle, Metaphyseal cupping, Rhizomelia, Natal tooth, Abnormal e...	ORPHA:50945
Mucopolysaccharidosis, Type Ivb	Carious teeth, Hypoplasia of the odontoid process, Widely spaced teeth, Hypoplasia of the capital...	OMIM:253010
Late-Infantile/Juvenile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ...	ORPHA:206443
Sim1-Related Prader-Willi-Like Syndrome	Premature adrenarche, Small hand, Absence of pubertal development, Type II diabetes mellitus, Cry...	ORPHA:398079
Hennekam Syndrome	Abnormal oral mucosa morphology, Finger syndactyly, Delayed eruption of teeth, Retrognathia, Camp...	ORPHA:2136
Cohen Syndrome	Micrognathia, Open mouth, Genu valgum, Narrow palm, Neutropenia, Short metacarpal, High, narrow p...	OMIM:216550
Spermatogenic Failure 30	Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility	OMIM:618110
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Wide nasal bridge, Osteopenia, Retrognathia, Failure to thrive, Intrauterine growth retardation, ...	OMIM:618005
Heart-Hand Syndrome Type 2	Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Micromelia, Short 5th metacarpal,...	ORPHA:1350
Weill-Marchesani Syndrome 1	Tooth malposition, Hypoplasia of the maxilla, Broad phalanges of the hand, Abnormal dental morpho...	OMIM:277600
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Micrognathia, Narrow mouth, Arachnodactyly, Radioulnar synostosis, Bowing of the long bones, Disl...	OMIM:130070
Frank-Ter Haar Syndrome	Micrognathia, Bowing of the long bones, Prominent coccyx, High palate, Osteopenia, Cortical irreg...	OMIM:249420
Spermatogenic Failure 2	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm...	OMIM:108420
Luscan-Lumish Syndrome	Irregular menstruation, High anterior hairline, Obesity, Malar flattening, Polycystic ovaries, Hi...	OMIM:616831
Gapo Syndrome	Abnormal pelvic girdle bone morphology, Growth delay, Delayed eruption of teeth, Long philtrum, D...	ORPHA:2067
Spermatogenic Failure 79	Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia	OMIM:620196
Hyperparathyroidism-Jaw Tumor Syndrome	Polydipsia, Elevated circulating parathyroid hormone level, Pancreatic adenocarcinoma, Abnormal p...	ORPHA:99880
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Generalized osteoporosis, Hypermethioninemia, Limitation of joint mobility, Dental crowding, Fail...	OMIM:236200
Rhyns Syndrome	Osteopenia, Radial bowing, Decreased response to growth hormone stimulation test, Anterior hypopi...	OMIM:602152
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hirsutism, Primary amenorrhea, Hypercholesterolem...	OMIM:612526
Ovarian Fibrothecoma	Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Hirsutism, Abnormal endometrium mo...	ORPHA:314478
Ovarian Dysgenesis 8	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Eunuchoid habitus, Ele...	OMIM:618187
Prader-Willi Syndrome	Small hand, Carious teeth, Clinodactyly, Hyperinsulinemia, Genu valgum, Type II diabetes mellitus...	OMIM:176270
Dermatosparaxis Ehlers-Danlos Syndrome	Severe short stature, Osteopenia, Rickets, Retrognathia, Osteomalacia, Joint stiffness, Micrognat...	ORPHA:1901
Dyskeratosis Congenita, Autosomal Dominant 2	Abnormality of the dentition, Hepatic fibrosis, Bone marrow hypocellularity, Aplastic anemia, Ora...	OMIM:613989
Post-Traumatic Pituitary Deficiency	Osteopenia, Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased ...	ORPHA:95619
Tarp Syndrome	Optic atrophy, Prominent antihelix, Hearing impairment, Extramedullary hematopoiesis, Failure to ...	ORPHA:2886
Optic Atrophy 1	Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials	OMIM:165500
Autosomal Recessive Omodysplasia	Rhizomelia, Micromelia, Long philtrum, Elbow dislocation, Short nose, Micrognathia, Abnormal femu...	ORPHA:93329
Multiple Enchondromatosis, Maffucci Type	Pathologic fracture, Multiple enchondromatosis	OMIM:614569
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Cranial hyperostosis, Oligodontia, Hypodontia, Short stature	OMIM:601345
Pitt-Hopkins Syndrome	Tooth malposition, Small hand, Failure of eruption of permanent teeth, Failure to thrive, Finger ...	ORPHA:2896
19P13.3 Microduplication Syndrome	Precocious puberty, Clinodactyly, Unilateral cryptorchidism, Intrauterine growth retardation, Mic...	ORPHA:447980
Holoprosencephaly 9	Hypoplasia of the premaxilla, Cryptorchidism, Bilateral cleft palate, Short hard palate, Anterior...	OMIM:610829
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen...	OMIM:616000
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Camptodactyly of finger, Tooth agenesis, Micrognathia, Patent ductus a...	ORPHA:2863
Spermatogenic Failure 1	Cryptozoospermia, Male infertility, Oligozoospermia	OMIM:258150
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:612997
Clark-Baraitser syndrome	Obesity, Genu valgum, Joint hypermobility, Macroorchidism, Short palm, Tapered finger	OMIM:300602
Spermatogenic Failure 41	Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility	OMIM:618670
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Shortening of all middle phalanges of the fingers, Hypoplasia of the odontoid process, Type I dia...	OMIM:226980
Lathosterolosis	2-3 toe cutaneous syndactyly, Intrahepatic cholestasis, Elevated circulating lathosterol concentr...	OMIM:607330
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Broad thumb, Hearing impairment, Clinodactyly, Lymphopenia, Hepatosplenomegaly, Cryptorchidism, M...	OMIM:612541
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Enlarged metaphyses, Severe short stature, Lower-limb metaphyseal irregularity, Postnatal growth ...	OMIM:618728
Congenital Syphilis	Periostitis, Optic atrophy, Hearing impairment, Extramedullary hematopoiesis, Hepatosplenomegaly,...	ORPHA:499009
Camptodactyly Syndrome, Guadalajara Type 1	Short distal phalanx of finger, Toe syndactyly, Dental malocclusion, Downturned corners of mouth,...	ORPHA:1327
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Metaphyseal cupping, Delayed skeletal maturation, Wide distal fe...	OMIM:613320
Propionic Acidemia	Failure to thrive, Pancytopenia, Hyperglycinemia, Hyperammonemia, Hepatomegaly, Pancreatitis, Thr...	OMIM:606054
Megalencephaly	Genu valgum, Macroorchidism, Long penis, Truncal obesity	ORPHA:2477
Progressive Pseudorheumatoid Dysplasia	Joint contracture of the hand, Camptodactyly of finger, Joint stiffness, Enlarged interphalangeal...	OMIM:208230
Schimke Immunoosseous Dysplasia	Osteopenia, Shallow acetabular fossae, Hypoplasia of the capital femoral epiphysis, Lymphopenia, ...	OMIM:242900
Cerebrotendinous Xanthomatosis	Tendon xanthomatosis, Abnormal motor evoked potentials, Abnormal tibia morphology, Abnormal finge...	ORPHA:909
Campomelic Dysplasia	Small abnormally formed scapulae, Hip dislocation, Tracheomalacia, Micrognathia, Femoral bowing, ...	ORPHA:140
Osteogenesis Imperfecta, Type Vi	Dentinogenesis imperfecta, Bowing of the arm, Increased susceptibility to fractures, Joint hyperm...	OMIM:613982
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Genu valgum, Malar flattening, Hypodontia,...	ORPHA:2972
Familial Papillary Or Follicular Thyroid Carcinoma	Follicular thyroid carcinoma, Goiter, Abnormal lymph node morphology, Chronic noninfectious lymph...	ORPHA:319487
2P21 Microdeletion Syndrome	Hypogonadism, Long eyelashes, Hypocalcemia, Failure to thrive	ORPHA:163693
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus...	OMIM:125500
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Short stature, Reduced bone mineral density, Recurrent fractures, Joint hypermobility	OMIM:619115
Bangstad Syndrome	Severe short stature, Retrognathia, Insulin-resistant diabetes mellitus, Goiter, Pancytopenia, Pr...	OMIM:210740
46,Xx Gonadal Dysgenesis	Osteopenia, Sparse pubic hair, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Gonad...	ORPHA:243
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Type I diabetes mellitus, Pituitary adenoma, Graves disease, Adrenocorticotrop...	ORPHA:199299
Complete Androgen Insensitivity Syndrome	Sparse pubic hair, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Abno...	ORPHA:99429
Hallermann-Streiff Syndrome	High, narrow palate, Abnormality of the dentition, Small hand, Natal tooth, Tracheomalacia, Abdom...	ORPHA:2108
Chilton-Okur-Chung Neurodevelopmental Syndrome	Ankyloglossia, Micrognathia, Cryptorchidism, Chordee, Anterior pituitary hypoplasia, Slender fing...	OMIM:619841
47,Xyy Syndrome	Low-set ears, Varicocele, Finger clinodactyly, Azoospermia, Cryptorchidism, Micropenis, Increased...	ORPHA:8
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Fragmentation of the metacarpal epiphyses, Reduced arm span, Abnormality of the epiphyses of the ...	ORPHA:166002
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the dentition, Short 5th metacarpal, Oligodontia, Abnormality of the hand, Brachyd...	ORPHA:1264
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Overlapping toe, Genu valgum, Carpal bone hypoplasia, Disproportionate short-trunk short stature,...	ORPHA:457395
Incontinentia Pigmenti	Deviation of finger, Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Abnor...	ORPHA:464
Catifa Syndrome	Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Increased overbite, Campt...	OMIM:618761
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Undetectable visual evoked potentials, Optic atrophy, Progressive sensorineural hearing impairmen...	OMIM:601338
Infantile Neuroaxonal Dystrophy	Optic atrophy, Abnormality of peripheral nerve conduction, Abnormal autonomic nervous system phys...	ORPHA:35069
Sickle Cell Anemia	Hypochromic anemia, Persistence of hemoglobin F, Microcytic anemia, Abnormality of the spleen, Fi...	ORPHA:232
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Misalignment of incisors, Postnatal growth retardation, Joint stiffness, Bicoron...	OMIM:619184
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Antley-Bixler Syndrome	Hypoplasia of the zygomatic bone, Long philtrum, Camptodactyly of finger, Joint stiffness, Femora...	ORPHA:83
Xp21 Deletion Syndrome	Growth delay, Finger clinodactyly, Adrenal insufficiency, Primary adrenal insufficiency, Joint hy...	ORPHA:261476
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Tooth agenesis, Micrognathia, Abnormal palate morphology, Brachydactyly, Mesomelia	ORPHA:1277
Aromatase Deficiency	Delayed epiphyseal ossification, Osteopenia, Female infertility, Ambiguous genitalia, female, Obe...	ORPHA:91
Meningioma	Secondary growth hormone deficiency, Decreased serum estradiol, Hypothalamic hypothyroidism, Pitu...	ORPHA:2495
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Premature adrenarche, Small hand, Decreased circulating T4 concentration, Central adrenal insuffi...	ORPHA:98754
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Goiter, Leukocytosis, Hyponatremia, Hashimoto thyroiditis, Hypothyroidism, Thrombocytopenia, Ante...	ORPHA:83601
Diamond-Blackfan Anemia 7	Osteopenia, Small hypothenar eminence, Increased mean corpuscular volume, Short thumb, Intrauteri...	OMIM:612562
Spondylodysplastic Ehlers-Danlos Syndrome	Subluxation of the small joints of the hand, Micrognathia, Narrow mouth, Dysplasia of the femoral...	ORPHA:536471
Pseudoachondroplasia	Delayed epiphyseal ossification, Radial metaphyseal irregularity, Genu valgum, Carpal bone hypopl...	OMIM:177170
Spondyloepiphyseal Dysplasia Congenita	Aplasia/hypoplasia involving bones of the extremities, Growth delay, Short femoral neck, Upper li...	ORPHA:94068
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Metacarpal periost...	OMIM:617994
Peters-Plus Syndrome	Postnatal growth retardation, Micrognathia, Short lingual frenulum, Cryptorchidism, Limited elbow...	OMIM:261540
C Syndrome	Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Micrognathia, Cryptorchidism, Thick ant...	OMIM:211750
Hajdu-Cheney Syndrome	Micrognathia, Narrow mouth, Genu valgum, Fibular bowing, Absent frontal sinuses, Crowded carpal b...	OMIM:102500
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges of the hand,...	ORPHA:73230
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Rickets, Elevated circulating he...	OMIM:607765
Rajab Interstitial Lung Disease With Brain Calcifications 1	Cholestasis, Slender build, Pancytopenia, Hepatic steatosis, Cirrhosis, High palate, Bile duct pr...	OMIM:613658
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Joint contracture of the hand, Small hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, N...	OMIM:235510
X Small Rings	Toe syndactyly, Growth delay, Long philtrum, Upper limb undergrowth, Clinodactyly of the 5th fing...	ORPHA:96201
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Spinocerebellar Ataxia Type 1	Abnormal nerve conduction velocity, Optic atrophy, Abnormal flash visual evoked potentials, Abnor...	ORPHA:98755
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Cholestasis, Hepatic steatosis, Dysmenorrhea, Increased body weight, Polycystic ovaries, Cirrhosi...	ORPHA:264580
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Osteomalacia, Hypophosphatemia, Pancreatitis, Hypercalcemia, Primary hyperparath...	OMIM:600740
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Nodular regenerative hyperplasia of liver, Tarsal sclerosis, Congenital hip dislocation, Elevated...	ORPHA:404454
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Premature adrenarche, Small hand, Decreased circulating T4 concentration, Central adrenal insuffi...	ORPHA:177901
Craniosynostosis 2	Unicoronal synostosis, Cleft soft palate, Bicoronal synostosis, Triphalangeal thumb, Brachydactyl...	OMIM:604757
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Osteoarthritis of the elbow, Wrist swelling, Short femoral neck, Camptodactyly of finger, Camptod...	ORPHA:2848
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Low-set ears, Small hand, Clinodactyly, Oligozoospermia, Sparse hair, Short foot, Short metacarpa...	OMIM:614813
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Short stature, Osteoporosis, Eosinophilia	OMIM:620532
Stargardt Disease	Abnormality of visual evoked potentials	ORPHA:827
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperparathyroidism, Hyperphosphatemia, Hyperostosis, Taurodontia, Pulp calcification, Enamel hyp...	OMIM:211900
Trichorhinophalangeal Syndrome Type 1	Abnormality of the dentition, Short distal phalanx of finger, Long philtrum, Camptodactyly of fin...	ORPHA:77258
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Premature adrenarche, Small hand, Decreased circulating T4 concentration, Central adrenal insuffi...	ORPHA:98793
Axial Osteomalacia	Increased bone mineral density, Polycystic liver disease, Osteomalacia	OMIM:109130
De Barsy Syndrome	Osteopenia, Congenital hip dislocation, Delayed eruption of teeth, Failure to thrive, Delayed ske...	ORPHA:2962
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Low-set ears, Undetectable visual evoked potentials, Macrotia, Attached earlobe	ORPHA:436245
Schwartz-Jampel Syndrome	Elbow dislocation, Pursed lips, Micrognathia, Narrow mouth, Genu valgum, Hip contracture, Decreas...	ORPHA:800
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Fibular overgrowth, Disproportionate short-limb short stature, M...	OMIM:602557
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Small hand, Lymphopenia, Micrognathia, Patent ductus arteriosus, Severe postnatal growth retardat...	OMIM:620005
Laron Syndrome	Severe short stature, Delayed eruption of teeth, Short toe, Tooth agenesis, Delayed skeletal matu...	ORPHA:633
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Optic atrophy, Prominent fingertip pads, Abnormal electroretinogram, Low anterior hairline, Limb ...	OMIM:616875
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, Leukocytosis, M...	OMIM:619281
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Premature adrenarche, Small hand, Decreased circulating T4 concentration, Central adrenal insuffi...	ORPHA:177904
Ollier Disease	Precocious puberty, Micromelia, Joint stiffness, Anemia, Lymphangioma, Abnormal metaphysis morpho...	ORPHA:296
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Severe short stature, Fibular overgrowth, Abnormal epiphysis mor...	ORPHA:93352
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Dental crowding, Retrognathia, Thick lower lip vermilion, Persistence of primary teeth, Micrognat...	OMIM:618342
48,Xxyy Syndrome	Broad jaw, Carious teeth, Delayed eruption of teeth, Thick lower lip vermilion, Open bite, Abnorm...	ORPHA:10
Estrogen Resistance	Osteopenia, Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Polycystic ovaries, Incr...	OMIM:615363
Robinow Syndrome, Autosomal Dominant 2	Broad thumb, Clinodactyly, Micrognathia, Cleft soft palate, Cryptorchidism, Short nose, Oligodont...	OMIM:616331
Hermansky-Pudlak Syndrome	Menometrorrhagia, Long eyelashes, Weight loss, Neutropenia, Hypopigmentation of hair, Abnormality...	ORPHA:79430
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Carpal synostosis, Fibular aplasia, Micrognathia, Narrow mouth, Anodo...	ORPHA:90652
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
Menkes Disease	Metaphyseal spurs, Intrauterine growth retardation, Joint hypermobility, Metaphyseal widening, Sh...	OMIM:309400
Spondyloocular Syndrome	Osteopenia, Abnormality of the dentition, Overlapping toe, Decreased body weight, Arachnodactyly,...	OMIM:605822
Lujan-Fryns Syndrome	Low-set ears, Camptodactyly of finger, Joint hypermobility, Arachnodactyly, Protruding ear, Brach...	ORPHA:776
Codas Syndrome	Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology...	ORPHA:1458
Congenital Generalized Lipodystrophy	Clitoral hypertrophy, Precocious puberty in females, Failure to thrive, Hypertrichosis, Overgrowt...	ORPHA:528
Prolactinoma	Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon...	ORPHA:2965
Idiopathic Juvenile Osteoporosis	Osteoporosis, Recurrent fractures, Bone pain	ORPHA:85193
Seckel Syndrome 1	Ivory epiphyses, Postnatal growth retardation, Pancytopenia, Micrognathia, Dislocated radial head...	OMIM:210600
Rubinstein-Taybi Syndrome 2	Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Broad thumb, Short 5th toe, Prom...	OMIM:613684
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic atrophy, Decreased nerve conduction velocity, Hypsarrhythmia, EEG abnormality, Optic disc p...	ORPHA:485421
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism, Limited elbow extension, Tapered finger	OMIM:300706
Dent Disease	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Bone pain, Sparse bone...	ORPHA:1652
Autoimmune Hypoparathyroidism	Hyperphosphatemia, Hypocalcemic tetany, Autoimmune hypoparathyroidism, Hypocalcemia, Coronary art...	ORPHA:36913
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Thick upper lip vermilion, Hypoplastic iliac wing, Postnatal gro...	OMIM:611717
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Carious teeth, Aplastic anemia, Increased mean corpuscular volume, O...	OMIM:127550
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type	Bilateral sensorineural hearing impairment, Macroorchidism, Obesity, Macrotia	OMIM:300238
Prader-Willi Syndrome	Osteopenia, Abnormality of the dentition, Small hand, Periodontitis, Downturned corners of mouth,...	ORPHA:739
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Polycystic ovaries, Oligomenorrhea, Hypertriglyceridemia, Abnormal circulating ...	ORPHA:280356
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Failure ...	OMIM:619644
Robinow Syndrome	Tooth malposition, Small scrotum, Ankyloglossia, Marked delay in eruption of permanent teeth, Mic...	ORPHA:97360
Aarskog-Scott Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Small hand, Delayed eruption of teeth, L...	ORPHA:915
Multiple Endocrine Neoplasia Type 1	Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma...	ORPHA:652
Addison Disease	Adrenal calcification, Weight loss, Anorexia, Hypoparathyroidism, Premature ovarian insufficiency...	ORPHA:85138
Hall-Riggs Syndrome	Abnormal epiphysis morphology, Delayed eruption of teeth, Downturned corners of mouth, Failure to...	ORPHA:2107
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Intrauterine growth retardation, Micrognathia, Malar flattening, B...	ORPHA:2145
Branchioskeletogenital Syndrome	Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Abnormality of the dentition, Downturned c...	ORPHA:1299
Isolated Thyroid-Stimulating Hormone Deficiency	Increased pituitary glycoprotein hormone alpha subunit level, Abnormal epiphysis morphology, Fail...	ORPHA:90674
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Short stature, Macroorchidism, Obesity, Focal EEG discharges with secondary generalization	ORPHA:3077
Poems Syndrome	Polycythemia, Sclerosis of foot bone, Sclerosis of hand bone, Sclerosis of skull base, Metaphysea...	ORPHA:2905
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Broad thumb, Postnatal growth retardation, Advanced ossification of carpal ...	OMIM:615777
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Premature adrenarche, Clitoral hypertrophy, Polycystic ovaries, Decreased circulating renin level...	ORPHA:90795
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Lambdoidal craniosynostosis, Abnormality of the dentition, Osteopenia, Downturned corners of mout...	OMIM:615398
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism	Severe short stature, Hip dislocation, Carious teeth, Generalized hypoplasia of dental enamel, Cu...	OMIM:203550
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Irregular menstruation, Hepatic fibrosis, Postnatal growth retardation, Splenomegaly, Dysmenorrhe...	ORPHA:79240
Paget Disease Of Bone 3	Patchy osteosclerosis, Fractures of the long bones, Osteolysis, Bone pain	OMIM:167250
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia	OMIM:616871
Fragile X Syndrome	Metacarpophalangeal joint hyperextensibility, Joint hypermobility, Macroorchidism, postpubertal, ...	OMIM:300624
Kniest Dysplasia	Delayed epiphyseal ossification, Enlarged metaphyses, Disproportionate short stature, Dumbbell-sh...	ORPHA:485
Morbid Obesity And Spermatogenic Failure	Azoospermia, Obesity, Type II diabetes mellitus, Hepatic steatosis, Oligozoospermia, Infertility	OMIM:615703
Glass Syndrome	Conical tooth, Dental crowding, Long philtrum, Micrognathia, Narrow mouth, Malar flattening, Ging...	OMIM:612313
Weill-Marchesani Syndrome 2	Tooth malposition, Hypoplasia of the maxilla, Narrow palate, Broad phalanges of the hand, Delayed...	OMIM:608328
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis, Retrognathia, Micrognathia, Decreased skull ossification, Smooth philtrum, N...	OMIM:263210
Mccune-Albright Syndrome	Pathologic fracture, Craniofacial hyperostosis, Polyostotic fibrous dysplasia	OMIM:174800
Trisomy 20P	Finger syndactyly, Abnormal antihelix morphology, Cryptorchidism, Low posterior hairline, Hypospa...	ORPHA:261318
Pediatric-Onset Graves Disease	Polydipsia, Graves disease, Failure to thrive, Goiter, Puberty and gonadal disorders, Splenomegal...	ORPHA:525731
Erdheim-Chester Disease	Abnormal epiphysis morphology, Osteomyelitis, Bone pain, Weight loss, Anemia, Increased bone mine...	ORPHA:35687
Partial Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Increased serum estradiol, ...	ORPHA:90797
Werner Syndrome	Small hand, Secondary amenorrhea, Neoplasm of the oral cavity, Hypogonadism, Slender build, Joint...	ORPHA:902
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Goiter, Chronic noninfectious lymphadenopathy, Papillary thyroid ...	ORPHA:97290
Dyskeratosis Congenita, Autosomal Dominant 3	Osteopenia, Bone marrow hypocellularity, Aplastic anemia, Oral leukoplakia, Growth delay, Pancyto...	OMIM:613990
Dermatitis Herpetiformis	Dental enamel pits, Delayed eruption of teeth, Microcytic anemia, Erosion of oral mucosa, Recurre...	ORPHA:1656
Trichothiodystrophy	High, narrow palate, Osteopenia, Carious teeth, Increased mean corpuscular hemoglobin concentrati...	ORPHA:33364
Intellectual Developmental Disorder, X-Linked 2	Short stature, Macroorchidism	OMIM:300428
Fibular Hemimelia	Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger...	ORPHA:93323
Acrofacial Dysostosis, Palagonia Type	High, narrow palate, Small hand, Unilateral cleft lip, Finger syndactyly, Micrognathia, Malar fla...	ORPHA:1787
Atkin-Flaitz Syndrome	Short stature, Macroorchidism, Obesity, Macrotia	ORPHA:1193
Satoyoshi Syndrome	Alopecia universalis, Abnormality of the uterus, Abnormal hair morphology, Abnormality of the ova...	ORPHA:3130
Neu-Laxova Syndrome	Bifid uvula, Osteopenia, Rickets, Retrognathia, Micromelia, Osteomalacia, Hypogonadism, Intrauter...	ORPHA:2671
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:619828
Oculocutaneous Albinism Type 1	Abnormality of visual evoked potentials	ORPHA:352731
Idiopathic Hypercalciuria	Osteoporosis, Osteopenia	ORPHA:2197
Hemochromatosis, Type 3	Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen...	OMIM:604250
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Abnormality of the dentition, Recurrent tonsillitis, Joint stiffness, ...	ORPHA:581
Hutchinson-Gilford Progeria Syndrome	Micrognathia, Malar flattening, Generalized osteoporosis, Growth delay, Osteolysis	OMIM:176670
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Fifth finger distal phalanx clinodactyly, Multiple suture craniosynostosis, Broad secondary alveo...	ORPHA:3369
Mesomelia-Synostoses Syndrome	Synostosis of joints, Synostosis of carpal bones, Aplasia/Hypoplasia of the uvula, Abnormal tibia...	ORPHA:2496
Arthrogryposis, Distal, Type 2A	Joint contracture of the hand, Pursed lips, Postnatal growth retardation, Narrow mouth, Hip contr...	OMIM:193700
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Aplasia/Hypoplasia of the distal phalanges of the han...	OMIM:113000
Mepan Syndrome	Optic atrophy, Abnormality of visual evoked potentials	ORPHA:508093
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Low-set ears, Undetectable visual evoked potentials, Posteriorly rotated ears	ORPHA:163961
Cranioectodermal Dysplasia 1	Clinodactyly, Anodontia, Broad distal phalanges of all fingers, Everted lower lip vermilion, Broa...	OMIM:218330
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Abnormally low T cell receptor excision circle level, Osteopenia, Bone marrow hypocellularity, He...	OMIM:617341
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormality of the dentition, Carious teeth, Yellow-brown discoloration of the teeth, Interphalan...	ORPHA:69087
Ataxia With Vitamin E Deficiency	Abnormality of visual evoked potentials	ORPHA:96
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Short stature, Natal tooth, Micrognathia, Sagittal craniosynostosis	OMIM:616901
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Congenital hip dislocation, Delayed eruption of teeth, Widely spaced teeth, Thick lower lip vermi...	OMIM:619797
Pearson Syndrome	Postnatal growth retardation, Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hyp...	ORPHA:699
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Epiphyseal dysplasia, Osteopenia, Delayed skeletal maturation, Postnatal growth retardation, Intr...	OMIM:614732
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia, Failure to thrive	OMIM:616963
Progressive Pseudorheumatoid Arthropathy Of Childhood	Joint contracture of the hand, Infancy onset short-trunk short stature, Limitation of joint mobil...	ORPHA:1159
Hypotonia-Cystinuria Syndrome	Failure to thrive, Decreased response to growth hormone stimulation test, Long eyelashes, Tented ...	OMIM:606407
Teebi Hypertelorism Syndrome 1	Coronal craniosynostosis, Small hand, Natal tooth, Dental crowding, Long philtrum, Micrognathia, ...	OMIM:145420
Distal Renal Tubular Acidosis	Rickets, Failure to thrive, Growth delay, Osteomalacia, Reduced bone mineral density, Increased s...	ORPHA:18
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Disproportionate short stature, Hypoplasia of the capital femoral epiphysis...	OMIM:617425
Pseudohypoparathyroidism Type 2	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypocalce...	ORPHA:94090
Sapho Syndrome	Craniofacial osteosclerosis, Osteomyelitis, Recurrent fractures, Hyperostosis, Synovitis, Abnorma...	ORPHA:793
Amelogenesis Imperfecta, Type Ie	Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp...	OMIM:301200
Spermatogenic Failure 64	Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe...	OMIM:619696
Pontocerebellar Hypoplasia, Type 2E	Failure to thrive, Micrognathia, Short stature, Osteoporosis, Flexion contracture, Short nose	OMIM:615851
Achalasia-Addisonianism-Alacrima Syndrome	Optic atrophy, Adrenal insufficiency, Decreased circulating cortisol level, Decreased circulating...	OMIM:231550
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Abnormality of visual evoked potentials	OMIM:614457
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shortening of limbs, ...	OMIM:300863
Opsismodysplasia	Rhizomelia, Hypoplasia of the odontoid process, Metaphyseal cupping, Disproportionate short-limb ...	OMIM:258480
Trichothiodystrophy 3, Photosensitive	Carious teeth, Natal tooth, Failure to thrive, Lymphopenia, Intrauterine growth retardation, Neut...	OMIM:616395
Bile Acid Conjugation Defect 1	Hepatic failure, Rickets, Elevated circulating aspartate aminotransferase concentration, Elevated...	OMIM:619232
Partington Syndrome	Macroorchidism, EEG abnormality	ORPHA:94083
Coffin-Siris Syndrome 3	Long philtrum, Delayed skeletal maturation, Intrauterine growth retardation, Wide mouth, Joint hy...	OMIM:614608
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, ...	OMIM:615830
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Natal tooth, Lymphopenia, Micrognathia, Eos...	OMIM:617237
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Pathologic...	ORPHA:905
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Wide nasal bridge, Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Sandal ga...	OMIM:617102
Spondylo-Ocular Syndrome	Long philtrum, Joint hypermobility, Disproportionate short-trunk short stature, Thin vermilion bo...	ORPHA:85194
Magel2-Related Prader-Willi-Like Syndrome	Small hand, Absence of pubertal development, Type II diabetes mellitus, Cryptorchidism, Increased...	ORPHA:398069
Spermatogenic Failure 22	Cryptozoospermia, Non-obstructive azoospermia, Male infertility	OMIM:617706
Steinert Myotonic Dystrophy	Oral-pharyngeal dysphagia, Hyperinsulinemia, Decreased fertility, Obsessive-compulsive trait, Sec...	ORPHA:273
Codas Syndrome	Congenital hip dislocation, Absent epiphyses, Delayed eruption of teeth, Delayed skeletal maturat...	OMIM:600373
Pallister-Hall Syndrome	Toe syndactyly, Natal tooth, Postaxial foot polydactyly, Distal shortening of limbs, Cryptorchidi...	OMIM:146510
Spermatogenic Failure 8	Cryptozoospermia, Azoospermia, Oligozoospermia	OMIM:613957
Coffin-Siris Syndrome 2	Short distal phalanx of finger, Delayed eruption of teeth, Long philtrum, Thick lower lip vermili...	OMIM:614607
Coxoauricular Syndrome	Short stature, Abnormal femur morphology, Reduced bone mineral density, Micromelia	ORPHA:1508
Spermatogenic Failure 14	Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho...	OMIM:615842
Hallermann-Streiff Syndrome	High, narrow palate, Narrow palate, Decreased number of sternal ossification centers, Natal tooth...	OMIM:234100
Xp22.3 Microdeletion Syndrome	Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries	ORPHA:1643
Apert Syndrome	Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b...	OMIM:101200
Estrogen Resistance Syndrome	Delayed epiphyseal ossification, Osteopenia, Absence of secondary sex characteristics, Breast hyp...	ORPHA:785
Pelizaeus-Merzbacher Disease	Optic atrophy, Hearing impairment, Failure to thrive in infancy, Joint stiffness, Cachexia, Short...	ORPHA:702
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, ...	OMIM:610475
Mpdu1-Cdg	Decreased response to growth hormone stimulation test, Undetectable visual evoked potentials, Hyp...	ORPHA:79323
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Abnormal B cell coun...	OMIM:617514
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Abnormal B cell count	OMIM:613495
Spondyloenchondrodysplasia With Immune Dysregulation	Rheumatoid arthritis, Short iliac bones, Lymphopenia, Sclerosis of skull base, Metaphyseal sclero...	OMIM:607944
Immunodeficiency 115 With Autoinflammation	Decreased circulating IgG level, Skeletal muscle atrophy, Lower limb muscle weakness, Intestinal ...	OMIM:620632
Amed Syndrome, Digenic	Bone marrow hypocellularity, Failure to thrive, Leukopenia, Long thumb, Acute myeloid leukemia, A...	OMIM:619151
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Gingival overgrowth, Exaggerated cupid's b...	ORPHA:2025
Multiple Myeloma	Osteopenia, Pathologic fracture, Splenomegaly, Weight loss, Lymphadenopathy, Anemia, Bone pain	ORPHA:29073
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Obesity, Hypocalcemia, Pseudoh...	OMIM:603233
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Brachydactyly, Broad palm, Postaxial hand polydactyly, Short foot, Short metacarpal, ...	OMIM:611263
Langer Mesomelic Dysplasia	Severe short stature, Ulnar deviation of finger, Disproportionate short-limb short stature, Micro...	ORPHA:2632
Roifman Syndrome	Downturned corners of mouth, Long philtrum, Short toe, Postnatal growth retardation, Irregular fe...	OMIM:616651
Anti-Glomerular Basement Membrane Disease	Anemia, Persistence of primary teeth, Arthritis	ORPHA:375
Dyskeratosis Congenita, Autosomal Recessive 1	Hepatic fibrosis, Bone marrow hypocellularity, Carious teeth, Aplastic anemia, Oral leukoplakia, ...	OMIM:224230
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Failure to thrive, Splenomegaly, Chronic sinusitis, Lymphadenopathy, Arthr...	ORPHA:397596
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Genu valgum, Neutropenia, Genu varum, Short nose, Short dental root, Osteopenia, Disproportionate...	OMIM:271510
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Optic atrophy, Prominent fingertip pads, Low anterior hairline, Limb hypertonia, EEG abnormality,...	ORPHA:480898
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Delayed eruption of teeth, Rhizomelic arm shortening, Lymphopenia, L...	ORPHA:508542
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Velopharyngeal insufficiency, Clinodactyly of the 2nd finger, Micrognathia, Diaphyseal undertubul...	OMIM:620663
Immunodeficiency 27A	Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hypoplasia of the...	OMIM:209950
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Ectopic accessory finger-like appendage, Postaxial foot polydac...	ORPHA:2919
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Goiter, Decreased thyroid-stimulating hormone level, Hypokalemia, Weight loss, Increased circulat...	OMIM:613239
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Micrognathia, Cryptorchidism, Generalized joint hypermobility, Cervical C2/C3 vertebr...	OMIM:618000
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Type I diabetes mellitus, Rickets, Failure to thrive, Hepatomegaly, Osteoporosis	OMIM:560000
Acrocephalopolydactyly	Hepatosplenomegaly, Limb undergrowth, Brachydactyly, Short nose	ORPHA:221054
Mitochondrial Complex I Deficiency, Nuclear Type 1	Undetectable visual evoked potentials, Hepatic failure, Hypospadias, Skeletal muscle atrophy, Fai...	OMIM:252010
Otodental Dysplasia	Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ...	OMIM:166750
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Genu valgum, Flattened epiphysis, Dislocated radial head, High palate, Short metacarpal, Delayed ...	OMIM:143095
Infantile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De...	ORPHA:206436
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Retrognathia, Elbow dislocation, Camptodactyly of finger, Abnormal metaphysis morphology, Bowing ...	ORPHA:2631
Infantile Nephropathic Cystinosis	Rickets, Failure to thrive, Abnormality of thyroid physiology, Hypokalemia, Hypophosphatemia, Abn...	ORPHA:411629
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Increased circulating cortisol level, Decreased circulating ACTH concentration, Macro...	OMIM:219080
Autosomal Recessive Robinow Syndrome	Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Broad thumb, Elbow dislocation, Op...	ORPHA:1507
Kallmann Syndrome	Delayed skeletal maturation, Tooth agenesis, Obesity, Delayed puberty, Reduced bone mineral densi...	ORPHA:478
Pendred Syndrome	Thyroid carcinoma, Compensated hypothyroidism, Increased circulating thyroglobulin concentration,...	OMIM:274600
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Nonarteritic anterior ischemic optic neuropathy, Abnormal electroretinogram, Abnormality of visua...	OMIM:125310
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Metaphyseal chondrodysplasia, Hypoplasia of the thymus	OMIM:200900
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Recurrent fractures	ORPHA:2773
Chime Syndrome	Abnormality of the dentition, Acute leukemia, Aplasia/Hypoplasia of the phalanges of the toes, Cl...	ORPHA:3474
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Failure to thrive, Lymphopenia, B lymphocytopenia, Sinusit...	ORPHA:277
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Premature adrenarche, Clitoral hypertrophy, Frontal balding, Decreased fertility, Weight loss, Hy...	ORPHA:90794
Congenital Myopathy 22A, Classic	Wide nasal bridge, Dental crowding, Micrognathia, Open mouth, Hip contracture, Achilles tendon co...	OMIM:620351
Metaphyseal Dysplasia Without Hypotrichosis	Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Joint hypermobility, ...	OMIM:250460
Osteopathia Striata With Cranial Sclerosis	Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Arachnodactyly, High p...	OMIM:300373
Tbck-Related Intellectual Disability Syndrome	High, narrow palate, Wide nasal bridge, Clinodactyly, Long philtrum, Abnormal circulating lipid c...	ORPHA:488632
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Broad middle phalanx of finger, Osteopenia, Reduced natural killer cell count, Short distal phala...	ORPHA:221139
Developmental And Epileptic Encephalopathy 66	Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Downturned corners of mout...	OMIM:618067
Cowden Syndrome 1	Varicocele, Hypoplasia of the maxilla, Thyroid adenoma, Goiter, Furrowed tongue, Lymphopenia, Mic...	OMIM:158350
Immunodeficiency 114, Folate-Responsive	Carious teeth, Lymphopenia, Postnatal growth retardation, Aphthous ulcer, Lip fissure, Splenomega...	OMIM:620603
Ruvalcaba Syndrome	Small hand, Dental crowding, Micromelia, Limited elbow extension, Cryptorchidism, Short phalanx o...	OMIM:180870
Tetrasomy 12P	Downturned corners of mouth, Delayed eruption of teeth, Long philtrum, Thick upper lip vermilion,...	ORPHA:884
Hypertrichosis Lanuginosa Congenita	Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth	ORPHA:2222
Vascular Malformation, Primary Intraosseous	Gingival bleeding, Hypochromic anemia, Ectopic tooth eruption	OMIM:606893
Intellectual Developmental Disorder, X-Linked 21	Joint hypermobility, Macroorchidism, Uplifted earlobe, Synophrys	OMIM:300143
Achondrogenesis, Type Ii	Microretrognathia, Disproportionate short-limb short stature, Long philtrum, Broad long bones, Sh...	OMIM:200610
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:620277
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Irregular menstruation, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine n...	ORPHA:189427
Gingival Fibromatosis-Hypertrichosis Syndrome	Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth	ORPHA:2026
Otospondylomegaepiphyseal Dysplasia	Bifid uvula, Disproportionate short stature, Limitation of joint mobility, Dumbbell-shaped femur,...	ORPHA:1427
Intermediate Generalized Junctional Epidermolysis Bullosa	Anemia, Growth delay, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79402
Amish Lethal Microcephaly	Limitation of joint mobility, Cleft soft palate, Micrognathia, Decreased skull ossification, Hepa...	ORPHA:99742
Andersen Cardiodysrhythmic Periodic Paralysis	Small hand, Toe syndactyly, Micrognathia, High palate, Short foot, Short metacarpal, Hypoplasia o...	OMIM:170390
17Q11.2 Microduplication Syndrome	Short stature, Macroorchidism, Sparse eyebrow, Sparse eyelashes	ORPHA:139474
Kyphomelic Dysplasia	Disproportionate short stature, Limitation of joint mobility, Micromelia, Joint stiffness, Microg...	ORPHA:1801
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Natal tooth, Short tibia, Flat acetabular roof, Patent ductus arteriosus, Cleft lip, Hamartoma of...	OMIM:616300
Calciphylaxis	Ectopic ossification, Hyperphosphatemia, Secondary hyperparathyroidism	ORPHA:280062
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Delayed eruption of permanent teeth, Exaggerated cupid's bow, Thick vermilion border, Clinodactyl...	OMIM:618506
Hypercholanemia, Familial 1	Rickets, Failure to thrive	OMIM:607748
Immunodeficiency 102	Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio...	OMIM:301082
ERI1-related disease	Osteopenia, Velopharyngeal insufficiency, Failure to thrive, Dislocated radial head, Slender meta...	OMIM:608739
Spastic Paraplegia 79B, Autosomal Recessive	Optic atrophy, Abnormality of visual evoked potentials	OMIM:615491
Recon Progeroid Syndrome	Dental crowding, Growth delay, Long thumb, Prominence of the premaxilla, Joint hypermobility, Smo...	OMIM:620370
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Disproportionate short stature, Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of th...	OMIM:609616
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Ankle flexion contracture, Distal amyotrophy, Sensorineural hearing impairment, Weakness of facia...	OMIM:617519
Spondyloepiphyseal Dysplasia, Maroteaux Type	Genu valgum, Short stature, Generalized osteoporosis, Small joint hypermobilty, Short femoral nec...	OMIM:184095
Friedreich Ataxia	Optic atrophy, Decreased sensory nerve conduction velocity, Decreased amplitude of sensory action...	OMIM:229300
Brachycephaly, Trichomegaly, And Developmental Delay	Bifid uvula, Prominent fingertip pads, Thick lower lip vermilion, Open mouth, Submucous cleft har...	OMIM:617412
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Abnormal lymph node morphology, Hypogonadism, Hepatosplenomegaly, Myopa...	ORPHA:85450
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Abnormal metaphysis morphology, Long fibula, Anemia, Reduced bone mineral density, A...	ORPHA:935
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Severe short stature, Joint contracture of the hand, Neonatal short-limb short stature, Limitatio...	OMIM:224400
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Undetectable visual evoked potentials	OMIM:619051
Alg12-Cdg	Elevated circulating hepatic transaminase concentration, Sandal gap, Failure to thrive, Overlappi...	ORPHA:79324
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Lymphopenia, Portal hypertension, Thrombocytopenia, Anemia	OMIM:620365
Primary Hyperoxaluria	Abnormality of the dentition, Abnormal dental pulp morphology, Elevated circulating hepatic trans...	ORPHA:416
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Abnormal macrophage morphology, Hypopl...	ORPHA:2585
Hypodontia-Dysplasia Of Nails Syndrome	Abnormality of the dentition, Conical tooth, Delayed eruption of teeth, Agenesis of permanent tee...	ORPHA:2228
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteomalacia, Micrognathia, Cryptorchidism, Bilateral single transverse palmar creases, Abnormal ...	ORPHA:2636
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Intrauterine growth retardation, Mi...	ORPHA:2050
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT...	OMIM:615954
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Dysplasia Epiphysealis Hemimelica	Abnormal femoral neck morphology, Abnormal epiphysis morphology, Irregular epiphyses, Joint stiff...	ORPHA:1822
Stickler Syndrome	Open bite, Slender build, Micrognathia, Genu valgum, Arachnodactyly, Short hard palate, Cachexia,...	ORPHA:828
Lissencephaly Syndrome, Norman-Roberts Type	Microretrognathia, Intrauterine growth retardation, Adducted thumb, Rocker bottom foot, Hypoplast...	ORPHA:89844
Brittle Cornea Syndrome 1	Dentinogenesis imperfecta, Congenital hip dislocation, Joint hypermobility	OMIM:229200
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Decreased circulating dehydroepiandrosterone concentration, Increased circulating cor...	OMIM:610489
Dent Disease 2	Short stature, Hypophosphatemia, Elevated circulating creatine kinase concentration	OMIM:300555
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Brachydactyly, Metaphyseal widening, Short long bone, Squar...	OMIM:618961
Craniotubular Dysplasia, Ikegawa Type	Broad femoral neck, Long philtrum, Thick lower lip vermilion, Thick upper lip vermilion, Sclerosi...	OMIM:619727
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Low-set ears, Undetectable visual evoked potentials, Intrauterine growth retardation, Sensorineur...	ORPHA:423479
Fragile X Syndrome	Otitis media, Joint hypermobility, Protruding ear, Macroorchidism, Chronic otitis media, Macrotia	ORPHA:908
Cherubism	Dental malocclusion, Multiple impacted teeth, Alveolar ridge overgrowth, Oligodontia, Jaw swellin...	OMIM:118400
Bloom Syndrome	Abscess, Sparse eyelashes, Abnormal proportion of CD8-positive T cells, Acute myeloid leukemia, O...	ORPHA:125
Three M Syndrome 2	Short 5th finger, Severe short stature, Dental malocclusion, Delayed eruption of teeth, Long phil...	OMIM:612921
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia, Brachydactyly, Short stature, Short metatarsal, Short met...	OMIM:613382
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Peripapillary atrophy, Abnormal flash visual evoked potentials	OMIM:618195
Abcd Syndrome	Abnormal auditory evoked potentials, Polycythemia, Hearing impairment, Large for gestational age,...	OMIM:600501
Autosomal Recessive Cutis Laxa Type 2A	Congenital hip dislocation, Long philtrum, Postnatal growth retardation, Intrauterine growth reta...	ORPHA:357058
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Ulnar deviation of finger, Micromelia, Camptodactyly of finger, Furrowed tongue, Brachydactyly, T...	ORPHA:2928
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteoporosis, Osteopenia	ORPHA:529665
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Growth delay	OMIM:619164
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets, Failure to thrive, Growth delay	OMIM:602722
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the ovary, Polycystic ovaries, Hirsutism, Amenorrhea, Oligomenorrhea, Menorrhagia	ORPHA:2795
Spondyloenchondrodysplasia	Hypoplastic ilia, Short distal phalanx of finger, Granuloma, Dental malocclusion, Delayed eruptio...	ORPHA:1855
Immunodeficiency 31C	Osteopenia, Growth delay, Lymphopenia, Osteomyelitis, Autoimmune hemolytic anemia, Splenomegaly, ...	OMIM:614162
Marshall-Smith Syndrome	Irregular dentition, Prominence of the premaxilla, Decreased body weight, Bullet-shaped middle ph...	OMIM:602535
Microcephalic Primordial Dwarfism, Montreal Type	Severe short stature, Carious teeth, Open bite, Micrognathia, Cryptorchidism, Abnormal palate mor...	ORPHA:2617
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormo...	OMIM:203330
Mucopolysaccharidosis, Type Ii	Severe short stature, Delayed eruption of teeth, Thick lower lip vermilion, Widely spaced teeth, ...	OMIM:309900
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Micrognathia, Splenomegaly, Hepatic steatosis, Acroosteolysis of distal phalanges (feet), Osteoly...	ORPHA:280365
3M Syndrome	Congenital hip dislocation, Rocker bottom foot, Delayed eruption of teeth, Long philtrum, Slender...	ORPHA:2616
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Osteoporosis, Increased serum zinc	OMIM:601979
Werner Syndrome	Hypogonadism, Elevated hemoglobin A1c, Hypertriglyceridemia, Short stature, Osteoporosis, Reduced...	OMIM:277700
Gingival Fibromatosis-Progressive Deafness Syndrome	Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth	ORPHA:2027
Spermatogenic Failure 13	Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho...	OMIM:615841
Shashi-Pena Syndrome	Retrognathia, Intrauterine growth retardation, Thin upper lip vermilion, Cervical C2/C3 vertebral...	OMIM:617190
Cockayne Syndrome Type 1	Optic atrophy, Male hypogonadism, Elevated circulating hepatic transaminase concentration, Foot j...	ORPHA:90321
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Macrotia	OMIM:300886
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Delayed epiphyseal ossification, Osteopenia, Metaphyseal irregularity, Congenital hip dislocation...	OMIM:616007
Oculodentodigital Dysplasia, Autosomal Recessive	Fifth finger distal phalanx clinodactyly, Small hand, Broad long bones, Micrognathia, Narrow mout...	OMIM:257850
Thyroid Cancer, Nonmedullary, 4	Ovarian neoplasm, Prostate cancer, Papillary thyroid carcinoma, Goiter	OMIM:616534
Cantú Syndrome	Wide nasal bridge, Short distal phalanx of finger, Finger syndactyly, Long philtrum, Abnormal met...	ORPHA:1517
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Short distal phalanx of finger, Dental crowding, Growth delay, Elbow flexion contract...	OMIM:248370
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega...	OMIM:269600
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Gingival bleeding, Osteopenia, Short toe, Postnatal growth retardation, Recurrent mandibular subl...	OMIM:225410
Nail-Patella Syndrome	Abnormal tibia morphology, Contracture of the distal interphalangeal joint of the fingers, Patell...	ORPHA:2614
Polyembryoma	Irregular menstruation, Increased serum serotonin, Abnormality of the endocrine system, Abnormal ...	ORPHA:180229
Spastic Paraplegia 26, Autosomal Recessive	Decreased serum testosterone concentration, Distal lower limb amyotrophy, Upper limb muscle weakn...	OMIM:609195
48,Xxxy Syndrome	Small scrotum, Carious teeth, Delayed eruption of teeth, Open bite, Abnormal dental enamel morpho...	ORPHA:96263
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Elevated circulating hepatic transaminase concentration, Dental crowding, Joint stiffness, Genu v...	ORPHA:394
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Adrenocortical Carcinoma	Increased circulating cortisol level, Hypertrichosis, Hyperaldosteronism, Increased urinary corti...	ORPHA:1501
Atelosteogenesis Type Ii	Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, Genu valgum, Bilateral cleft pal...	ORPHA:56304
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypoparathyroidism, Hypocalcemic seizures, Decreased circulating...	OMIM:146200
Thyroid Dyshormonogenesis 3	Thyroid carcinoma, Increased T3/T4 ratio, Compensated hypothyroidism, Goiter	OMIM:274700
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Short stature, Rickets, Recurrent fractures	OMIM:268315
Achondrogenesis, Type Ib	Neonatal short-limb short stature, Micromelia, Absent or minimally ossified vertebral bodies, Mal...	OMIM:600972
Brain-Lung-Thyroid Syndrome	Failure to thrive, Elevated circulating thyroid-stimulating hormone concentration, Congenital hyp...	ORPHA:209905
Polycystic Ovary Syndrome 1	Obesity, Hirsutism, Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea	OMIM:184700
Agammaglobulinemia 8B, Autosomal Recessive	B Acute Lymphoblastic Leukemia, Everted upper lip vermilion, Failure to thrive, Pancytopenia, Spl...	OMIM:619824
Glycogen Storage Disease Ib	Gout, Splenomegaly, Oral ulcer, Hyperuricemia, Hyperlipidemia, Hepatomegaly, Delayed puberty, Pan...	OMIM:232220
Ritscher-Schinzel Syndrome 3	Short 1st metacarpal, Short first metatarsal, Postnatal growth retardation, Micrognathia, Epiphys...	OMIM:619135
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Congenital Disorder Of Glycosylation, Type Iil	Elevated circulating hepatic transaminase concentration, Retrognathia, Failure to thrive, Cholest...	OMIM:614576
Farber Disease	Hepatic fibrosis, Short toe, Failure to thrive, Short finger, Hepatosplenomegaly, Abnormality of ...	ORPHA:333
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,...	OMIM:203700
Braddock-Carey Syndrome 1	Small hand, Clinodactyly, Enamel hypoplasia, Everted lower lip vermilion, Thrombocytopenia, Thick...	OMIM:619980
Alkaptonuria	Calcification of cartilage, Joint stiffness, Reduced bone mineral density, Increased susceptibili...	ORPHA:56
Orofaciodigital Syndrome I	Carious teeth, Clinodactyly, Ankyloglossia, Ovarian cyst, High palate, Syndactyly, Hamartoma of t...	OMIM:311200
Bone Dysplasia, Lethal Holmgren Type	Rhizomelia, Micromelia, Abnormal diaphysis morphology, Failure to thrive, Abnormal femur morpholo...	ORPHA:1842
Immunodeficiency 69	Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly...	OMIM:618963
Sclerosteosis 1	Tooth malposition, Abnormal pelvic girdle bone morphology, Dental malocclusion, Deviation of fing...	OMIM:269500
Fanconi Renotubular Syndrome 3	Short stature, Growth delay, Rickets, Bowing of the legs	OMIM:615605
Cowden Syndrome 6	Varicocele, Hypoplasia of the maxilla, Thyroid adenoma, Goiter, Furrowed tongue, Micrognathia, Na...	OMIM:615109
Schneckenbecken Dysplasia	Hypoplastic scapulae, Disproportionate short-limb short stature, Short nose, Malar flattening, Sh...	OMIM:269250
Gray Platelet Syndrome	Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ...	OMIM:139090
Carabelli Anomaly Of Maxillary Molar Teeth	Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar	OMIM:114700
Leri-Weill Dyschondrosteosis	Increased carrying angle, Abnormal femoral neck morphology, Radial bowing, Short tibia, Abnormal ...	OMIM:127300
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Type I diabetes mellitus, Palmoplantar keratoderma, Abnormal circulating lipid concentration, Joi...	ORPHA:1979
Combined Immunodeficiency, X-Linked	Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-...	OMIM:312863
Cowden Syndrome 5	Hypoplasia of the maxilla, Thyroid adenoma, Goiter, Furrowed tongue, Micrognathia, Narrow mouth, ...	OMIM:615108
Melnick-Needles Syndrome	Tooth malposition, Hypoplastic scapulae, Short distal phalanx of finger, Delayed eruption of teet...	OMIM:309350
Immunodeficiency 105	Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple...	OMIM:619924
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Abnormal circulating testosterone concentration, Frontal balding, Increased c...	ORPHA:786
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Cyclic Neutropenia	Recurrent tonsillitis, Periodontitis, Atrophy of alveolar ridges, Cervical lymphadenopathy, Lymph...	ORPHA:2686
Acromesomelic Dysplasia 3	Elevated circulating luteinizing hormone level, Carpal synostosis, Fibular aplasia, Talipes equin...	OMIM:609441
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Disproportionate short-limb short stature, Limited elbow extension, Limb undergrowth, Short statu...	ORPHA:156728
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Microdontia, Thin upper lip vermilion, Everted lower lip vermilion, Cl...	OMIM:619736
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th...	ORPHA:508533
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia, Limitation of joint mobility, Arthritis	ORPHA:2582
Acromicric Dysplasia	Severe short stature, Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Long philtrum, Th...	OMIM:102370
Atelosteogenesis Type I	Rhizomelia, Abnormal pancreatic duct morphology, Absent or minimally ossified vertebral bodies, M...	ORPHA:1190
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
46,Xy Sex Reversal 1	Elevated circulating luteinizing hormone level, Abnormal male external genitalia morphology, Gona...	OMIM:400044
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Dysplasia of the femoral head, Cone-shaped epiphysis of the 1st metac...	OMIM:607778
Thyroid Dyshormonogenesis 2A	Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,...	OMIM:274500
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Bilateral cryptorchidism, Decreased testicular size, Short lingual frenulum, Hypogona...	ORPHA:2326
Hypophosphatemic Rickets, Autosomal Recessive, 2	Carious teeth, Delayed skeletal maturation, Hypophosphatemic rickets, Genu valgum, Short stature,...	OMIM:613312
Hemifacial Atrophy, Progressive	Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami	OMIM:141300
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Abnormal natural killer cell physiology, Splenomegaly, Lymp...	OMIM:613101
Oculofaciocardiodental Syndrome	Tooth malposition, Abnormality of the dentition, Delayed eruption of teeth, Long philtrum, Short ...	ORPHA:2712
Rin2 Syndrome	Abnormal lip morphology, Long philtrum, Gingival overgrowth, Irregular dentition, Increased susce...	ORPHA:217335
Congenital Disorder Of Glycosylation, Type Iia	Osteopenia, Mandibular prognathia, Retrognathia, Long philtrum, Diastema, Slender long bone, Macr...	OMIM:212066
Thymic Neuroendocrine Tumor	Osteopenia, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cell ade...	ORPHA:97289
Temtamy Preaxial Brachydactyly Syndrome	Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radioulnar synostosis, Deep philtrum, Bra...	OMIM:605282
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Limitation of joint mobility, Osteolytic defects of the phalanges of the hand, Palmop...	OMIM:259100
Nance-Horan Syndrome	Abnormality of the dentition, Supernumerary tooth, Mandibular prognathia, Short metacarpal	ORPHA:627
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hypogonadotropic...	ORPHA:848
Autosomal Dominant Robinow Syndrome	Finger syndactyly, Elbow dislocation, Open bite, Micrognathia, Cryptorchidism, Anodontia, Short n...	ORPHA:3107
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Carious teeth, Delayed eruption of teeth, Long philtrum, ...	ORPHA:2834
Cog1-Cdg	Osteopenia, Rhizomelia, Failure to thrive, Long philtrum, Postnatal growth retardation, Hepatospl...	ORPHA:263508
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Osteopenia, Clinodactyly, Cleft upper lip, Tooth agenesis, Ectrodactyly, Cryptorchidism, Hypogona...	OMIM:147950
Metachromatic Leukodystrophy, Adult Form	Optic atrophy, Decreased nerve conduction velocity, Orthostatic hypotension due to autonomic dysf...	ORPHA:309271
Intermediate Nemaline Myopathy	High, narrow palate, Long philtrum, Multiple prenatal fractures, Flexion contracture, Arthrogrypo...	ORPHA:171433
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Cleft lip, Natal tooth, Short tibia, Preaxial polydactyly, Hamartoma of tongue, Micrognathia, Abs...	OMIM:617925
Leishmaniasis	Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopenia, Abnormal macro...	ORPHA:507
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Small hand, Overlapping fingers, Solitary median max...	ORPHA:952
Multiple Pterygium Syndrome, X-Linked	Cleft upper lip, Short finger, Intrauterine growth retardation, Micrognathia, Increased susceptib...	OMIM:312150
Char Syndrome	Toe syndactyly, Mesoaxial foot polydactyly, Agenesis of permanent teeth, Persistence of primary t...	ORPHA:46627
Lenz-Majewski Hyperostotic Dwarfism	Cutaneous finger syndactyly, Micrognathia, Humeroradial synostosis, Diaphyseal undertubulation, P...	OMIM:151050
Desmosterolosis	Joint contracture of the hand, Rhizomelia, Failure to thrive, Micrognathia, Alveolar ridge overgr...	OMIM:602398
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Abnormality of the dentition, Acute leukemia, Short distal phala...	ORPHA:289
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Limitation of joint mobility, Interphalangeal joint erosions, Symmetric polyarthritis...	ORPHA:85435
Igg4-Related Thyroid Disease	Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Hypocalcemia, Hashimoto thyroiditis, Hypo...	ORPHA:64744
Congenital Insensitivity To Pain With Severe Intellectual Disability	Small for gestational age, Osteomyelitis, Micrognathia, Tibial bowing, Congenital bilateral hip d...	ORPHA:453510
Gonadoblastoma	Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon...	ORPHA:206484
Chand Syndrome	Short fifth metatarsal, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Bifid ton...	ORPHA:1401
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Postnatal growth re...	OMIM:210720
Short Syndrome	Dental malocclusion, Downturned corners of mouth, Delayed eruption of teeth, Clinodactyly, Slende...	OMIM:269880
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Recurrent sinusitis, Decreased proportion of class-switched ...	OMIM:607594
Hypochondroplasia	Micromelia, Short toe, Abnormal femur morphology, Childhood onset short-limb short stature, Joint...	ORPHA:429
Tafro Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, ...	ORPHA:457077
Craniofaciofrontodigital Syndrome	Osteopenia, Long philtrum, Large for gestational age, Gingival overgrowth, Prominent median palat...	ORPHA:363705
Pparg-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Atherosclerosis, Splenomegaly, Hypertriglyceridemia, Dysmeno...	ORPHA:79083
Osebold-Remondini Syndrome	Mesomelia, Short toe, Short tibia, Carpal synostosis, Type A brachydactyly, Radial deviation of f...	OMIM:112910
X-Linked Intellectual Disability, Snyder Type	Dental crowding, Thick lower lip vermilion, Narrow mouth, Short philtrum, Smooth philtrum, Arachn...	ORPHA:3063
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Anemia, Carious teeth, Enamel hypoplasia, Short stature	OMIM:226670
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Cholelithiasis, Hepatic failure, Decreased liver function, Delayed skeletal maturatio...	ORPHA:77293
Menkes Disease	Osteomyelitis, Intrauterine growth retardation, Micrognathia, Abnormal palate morphology, Joint h...	ORPHA:565
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatic fibrosis, Acute pancreatitis, Failure to thrive, Hepatosplenomegaly, Int...	OMIM:619487
Hyperthyroidism, Nonautoimmune	Small for gestational age, Thyroid hyperplasia, Goiter, Decreased thyroid-stimulating hormone lev...	OMIM:609152
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia	ORPHA:3196
Langer Mesomelic Dysplasia	Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni...	OMIM:249700
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Severe short stature, Bifid uvula, Retrognathia, Failure to thrive, Camptodactyly of finger, Thyr...	ORPHA:3047
Lysinuric Protein Intolerance	Osteopenia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hemophagocy...	ORPHA:470
49,Xxxxy Syndrome	Carious teeth, Abnormal epiphysis morphology, Delayed eruption of teeth, Open bite, Abnormal dent...	ORPHA:96264
Metachromatic Leukodystrophy, Late Infantile Form	Bilateral sensorineural hearing impairment, Decreased nerve conduction velocity, Optic atrophy, A...	ORPHA:309256
Ascher Syndrome	Deviation of finger, Goiter, Abnormal upper lip morphology, Hypothyroidism, High palate	ORPHA:1253
Lowe Oculocerebrorenal Syndrome	Joint contracture of the hand, Finger swelling, Rickets, Failure to thrive, Camptodactyly of fing...	OMIM:309000
Thoracomelic Dysplasia	Disproportionate short-limb short stature, Elbow dislocation, Genu valgum, Short ribs, Joint hype...	ORPHA:1803
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Low-set ears, Broad thumb, Agenesis of corpus callosum, Arachnodactyly, Joint hypermobility, Abno...	OMIM:309520
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess, Lymphadenopathy, Ne...	OMIM:150550
Acute Adrenal Insufficiency	Normocytic anemia, Failure to thrive, Androgen insufficiency, Increased circulating ACTH level, P...	ORPHA:95409
Scarf Syndrome	Long philtrum, Joint hypermobility, Short sternum, Hepatocellular adenoma, Enamel hypoplasia, Hyp...	ORPHA:3134
Cenani-Lenz Syndrome	High, narrow palate, Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syn...	ORPHA:3258
Chst3-Related Skeletal Dysplasia	Rhizomelia, Delayed eruption of teeth, Long philtrum, Irregular epiphyses, Small epiphyses, Genu ...	ORPHA:263463
Pfeiffer-Palm-Teller Syndrome	Short stature, Joint stiffness, Enamel hypoplasia	ORPHA:2871
Intellectual Disability, Birk-Barel Type	High, narrow palate, Foot joint contracture, Micrognathia, Open mouth, Tented upper lip vermilion...	ORPHA:166108
Familial Partial Lipodystrophy, Dunnigan Type	Atherosclerosis, Splenomegaly, Polycystic ovaries, Dysmenorrhea, Advanced eruption of teeth, Gene...	ORPHA:2348
Gaucher Disease, Type I	Erlenmeyer flask deformity of the femurs, Pathologic fracture, Pancytopenia, Hypersplenism, Splen...	OMIM:230800
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Carious teeth, Hypoplastic acetabulae, Delayed eruption of teeth, Hypoplast...	OMIM:253200
Johanson-Blizzard Syndrome	Abnormality of the dentition, Delayed eruption of teeth, Failure to thrive, Delayed skeletal matu...	ORPHA:2315
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Weight loss, Hyperthyroidism, Goiter	OMIM:188580
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Obesity, Reduced circulating prolactin concentration	OMIM:264120
Idiopathic Hypereosinophilic Syndrome	Swelling of proximal interphalangeal joints, Hepatosplenomegaly, Chronic hepatitis, Neutrophilia,...	ORPHA:3260
Ravine Syndrome	Abnormal auditory evoked potentials	ORPHA:99852
Metachromatic Leukodystrophy, Juvenile Form	Bilateral sensorineural hearing impairment, Decreased nerve conduction velocity, Optic atrophy, A...	ORPHA:309263
Laron Syndrome	Severe short stature, Delayed menarche, Limb undergrowth, Decreased serum insulin-like growth fac...	OMIM:262500
Polycythemia Vera	Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Portal hypertension, Portal vein thromb...	ORPHA:729
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Failure to thrive, Hyperinsulinemia, Splenomegaly, Hepatic steatosis, Elevated circul...	OMIM:613327
X-Linked Intellectual Disability, Shashi Type	Macroorchidism, Obesity, Macrotia	ORPHA:85286
Hyperparathyroidism 4	Osteopenia, Hypercalcemia, Parathyroid carcinoma, Primary hyperparathyroidism	OMIM:617343
Alstrom Syndrome	Irregular menstruation, Abnormality of the dentition, Alopecia, Insulin-resistant diabetes mellit...	OMIM:203800
Thrombocytopenia 6	Osteoporosis, Myelofibrosis, Thrombocytopenia	OMIM:616937
Thyroid Dyshormonogenesis 5	Hypothyroidism, Goiter	OMIM:274900
Thyroid Dyshormonogenesis 4	Hypothyroidism, Goiter	OMIM:274800
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Pathologic fracture, Increased susceptibility to fractures, Tibial bowing, Joint hype...	OMIM:259770
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Cutaneous abscess, Increased hepatic echogenicity, Persistence of primary teeth, Recu...	OMIM:147060
Trichodental Dysplasia	Hypodontia, Conical tooth, Odontodysplasia	OMIM:601453
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Short stature, Hypophosphatemia	OMIM:308990
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Failure to thrive, Failure to thrive secondary to recurrent infections, Arthritis, B lymphocytope...	OMIM:601457
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatic failure, Delayed eruption of teeth, Micronodular cirrhosis, Widely spaced teeth, Gingival...	OMIM:301072
Dentin Dysplasia, Type I	Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration...	OMIM:125400
Hypothyroidism Due To Tsh Receptor Mutations	Neonatal hyperbilirubinemia, Elevated circulating thyroid-stimulating hormone concentration, Decr...	ORPHA:90673
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Short stature, Hypodontia, Delayed puberty, Delayed eruption of teeth	ORPHA:1816
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Carious teeth, Microretrognathia, Delayed eruption of tee...	OMIM:278250
Dpm1-Cdg	High, narrow palate, Hepatic fibrosis, Sandal gap, Failure to thrive, Long hallux, Hepatosplenome...	ORPHA:79322
Glycerol Kinase Deficiency	Downturned corners of mouth, Pathologic fracture, Chronic pancreatitis, Short stature, Osteoporos...	OMIM:307030
Familial Dysautonomia	Osteolysis, Abnormal peritoneum morphology, Growth delay, Recurrent fractures, Avascular necrosis	ORPHA:1764
Colchicine Poisoning	Alopecia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia...	ORPHA:31824
Spondylometaphyseal Dysplasia, A4 Type	Severe short stature, Limitation of joint mobility, Micromelia, Coxa vara, Short palm	ORPHA:168555
Acromesomelic Dysplasia 2A	Acromesomelia, Disproportionate short-limb short stature, Short tibia, Aplasia/Hypoplasia involvi...	OMIM:200700
Mesomelic Dysplasia, Nievergelt Type	Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Finger syndactyly, Micromelia, Ca...	ORPHA:2633
Epidermolysis Bullosa, Junctional 1A, Intermediate	Carious teeth, Camptodactyly of finger, Oral mucosal blisters, Hypodontia, Enamel hypoplasia	OMIM:226650
Maternal Uniparental Disomy Of Chromosome 6	Clitoral hypertrophy, Slender long bone, Abnormal electroretinogram, Congenital adrenal hyperplas...	ORPHA:96181
Pituitary Adenoma 4, Acth-Secreting	Pituitary adenoma, Increased circulating ACTH level, Obesity, Hypokalemia, Oligomenorrhea, Abdomi...	OMIM:219090
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia, Growth delay	ORPHA:169079
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Coronal craniosynostosis, Cholelithiasis, Retrognathia, Pancreatic hypoplasia, Failure to thrive,...	ORPHA:83617
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemopha...	OMIM:308240
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Cleft palate, Arthrogryposis multiplex congenita, Abnormal mandible morphology	OMIM:217150
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Splenomegaly, Recurrent sinusitis, Absent circulating B cells, Generalized lymphade...	OMIM:620282
Lipodystrophy, Familial Partial, Type 3	Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Hyperinsulinemia, T...	OMIM:604367
Primary Fanconi Renotubular Syndrome	Hypouricemia, Decreased circulating carnitine concentration, Osteomalacia, Hypophosphatemic ricke...	ORPHA:3337
Oculodentodigital Dysplasia	Broad alveolar ridges, Hip dislocation, Carious teeth, Clinodactyly, Selective tooth agenesis, Cl...	OMIM:164200
Glucocorticoid Resistance, Generalized	Irregular menstruation, Increased circulating cortisol level, Increased circulating ACTH level, I...	OMIM:615962
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Abnormal natural killer cell morphology, Long philtrum, Recurrent aphthous stomatitis, Overlappin...	OMIM:615966
Mucolipidosis Type Iii Alpha/Beta	Postnatal growth retardation, Joint stiffness, Gingival overgrowth, Short stature, Generalized os...	ORPHA:423461
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Abnormal bone ossification, Neutropenia, Hepatomegaly, Diap...	ORPHA:175
Atelosteogenesis, Type Ii	Dumbbell-shaped femur, Sandal gap, Micromelia, Micrognathia, Malar flattening, Talipes equinovaru...	OMIM:256050
Smith-Magenis Syndrome	Toe syndactyly, Cleft upper lip, Failure to thrive in infancy, Joint stiffness, Micrognathia, Ope...	ORPHA:819
Distal Deletion 17Q	Small hand, Deviation of finger, Micromelia, Aplasia/Hypoplasia of the uvula, Narrow mouth, Abnor...	ORPHA:1597
Premature Aging Syndrome, Okamoto Type	Osteoporosis, Diabetes mellitus	OMIM:601811
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Hepatitis, Delayed skeletal maturation, Lymphopenia, Hepatosplenomegaly, Autoimmune h...	ORPHA:391487
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Intellectual Disability And Myopathy Syndrome	Dental malocclusion, Limited elbow extension, Thin upper lip vermilion, Achilles tendon contractu...	OMIM:619719
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Osteopenia, Elevated circulating hepatic transaminase concentration, Pathologic fracture, Obesity...	OMIM:614231
Ulna Hypoplasia-Intellectual Disability Syndrome	Mesomelia, Severe short stature, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow disloc...	ORPHA:2249
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim...	ORPHA:353
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hypospadias, Small for gestational age, Retrognathia, Widely spaced teeth, Decreased response to ...	ORPHA:268261
Histiocytosis-Lymphadenopathy Plus Syndrome	Hearing impairment, Clinodactyly, Hepatosplenomegaly, Joint contracture of the 5th finger, Sensor...	OMIM:602782
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, Cervical lymp...	OMIM:618987
Schinzel-Giedion Syndrome	Overlapping toe, Micrognathia, Overlapping fingers, Radioulnar synostosis, Hepatoblastoma, High p...	ORPHA:798
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni...	OMIM:300539
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Bilateral triphalangeal thumbs, Short distal phalanx of finger, Micrognathia, Open mouth, Narrow ...	OMIM:619356
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Contractures of the large joints, Abnormal thumb morphology, Overfolded helix, Macroorchidism, Ma...	ORPHA:324410
Testicular Agenesis	Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero...	ORPHA:325124
Blue Diaper Syndrome	Hyperphosphatemia, Elevated circulating thyroid-stimulating hormone concentration, Decreased circ...	ORPHA:94086
Odontotrichoungual-Digital-Palmar Syndrome	Short distal phalanx of finger, Natal tooth, Dental malocclusion, Short 1st metacarpal, Short fir...	OMIM:601957
Axial Spondylometaphyseal Dysplasia	Flattened femoral head, Osteopenia, Growth delay, Aplasia/Hypoplasia of the vertebrae, Upper limb...	ORPHA:168549
Agammaglobulinemia 3, Autosomal Recessive	Absent circulating B cells, Failure to thrive, Neutropenia, Abnormal T cell morphology	OMIM:613501
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Abnormal pelvic girdle bone morphology, Growth arrest lines, Failure to thrive, Lymphopenia, Auto...	OMIM:102700
Distal Deletion 12Q	Overlapping toe, Micrognathia, Large hands, High, narrow palate, Annular pancreas, Pituitary aden...	ORPHA:96149
Occipital Horn Syndrome	Synostosis of joints, Osteomalacia, Cholestasis, Humerus varus, Genu valgum, Abnormal fibula morp...	ORPHA:198
Otodental Syndrome	Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo...	ORPHA:2791
Multiple Pterygium Syndrome, Lethal Type	Short finger, Intrauterine growth retardation, Micrognathia, Increased susceptibility to fracture...	OMIM:253290
Fetal Iodine Deficiency Disorder	Congenital goiter, Congenital hypothyroidism	OMIM:228355
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Sparse eyebrow, Tented philtrum, Long philtrum, Decreased serum testosterone concentration, Long ...	ORPHA:495875
Treacher-Collins Syndrome	Open bite, Micrognathia, Narrow mouth, Cryptorchidism, High palate, Thyroid hypoplasia, Hypoplasi...	ORPHA:861
4H Leukodystrophy	Abnormality of the dentition, Delayed eruption of teeth, Hypodontia, Delayed puberty, Short stature	ORPHA:289494
Orofaciodigital Syndrome Iii	Bifid uvula, Postaxial foot polydactyly, Microdontia, Short sternum, Postaxial hand polydactyly, ...	OMIM:258850
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short toe, Micromelia, Short tibia, Aplasia of the middle phalanges o...	ORPHA:2098
Liddle Syndrome 1	Hypokalemia, Decreased circulating renin level	OMIM:177200
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p...	OMIM:212050
Proteus Syndrome	Low-set ears, Finger syndactyly, Decreased muscle mass, Myofibrillar myopathy, Generalized hirsut...	ORPHA:744
Premature Ovarian Failure 18	Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ...	OMIM:619203
Immunodeficiency 112	Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched...	OMIM:620449
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Abnormality of the parathyroid gland, Micrognathia, Abnormal femur morphology,...	ORPHA:3429
Renal Tubular Acidosis, Proximal	Short stature, Rickets, Osteomalacia	OMIM:179830
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Failure to thrive, Hyperactive renin-angiotensin system, Abnormal female external genitalia morph...	ORPHA:90790
Grange Syndrome	Patent ductus arteriosus, Increased susceptibility to fractures, Short palm, Syndactyly	ORPHA:79094
Tenosynovial Giant Cell Tumor	Limitation of joint mobility, Localized osteoporosis, Joint stiffness, Abnormality of the wrist, ...	ORPHA:66627
Perrault Syndrome 6	Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl...	OMIM:617565
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Dental crowding, Delayed eruption of teeth, Long philtrum, High palate, Wide mouth, Tapered finger	OMIM:618825
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Elbow flexion contracture, Intrauterine growth retardation, Cryptorchidism, Thin verm...	OMIM:614438
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Astrocytosis, Abnormality of visual evoked potentials, Pachygyria, Facial palsy, Lissencephaly	ORPHA:258
Burkitt Lymphoma	Neoplasm of the oral cavity, Abnormality of the ovary, Abnormality of the spleen, Decreased propo...	ORPHA:543
Intellectual Developmental Disorder, Autosomal Dominant 21	Long philtrum, Narrow mouth, Cryptorchidism, Single transverse palmar crease, Thin vermilion bord...	OMIM:615502
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Low-set, posteriorly rotated ears, Fibular aplasi...	ORPHA:3320
Immunodeficiency 48	Failure to thrive, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with p...	OMIM:269840
Immunodeficiency, Common Variable, 8, With Autoimmunity	Failure to thrive, Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Recurrent sinusitis, ...	OMIM:614700
Pallister-Hall-Like Syndrome	Microglossia, Toe syndactyly, Postaxial foot polydactyly, Micromelia, Short nose, Micrognathia, S...	OMIM:241800
48,Xyyy Syndrome	Long philtrum, Thick lower lip vermilion, Dislocated radial head, Radioulnar synostosis, Enamel h...	ORPHA:99329
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Preaxial foot polydactyly, Triphalangeal thumb, Multinodular goiter, Postaxial hand polydactyly	ORPHA:2091
X-Linked Hypohidrotic Ectodermal Dysplasia	Short distal phalanx of finger, Everted upper lip vermilion, Delayed eruption of teeth, Microdont...	ORPHA:181
Turner Syndrome Due To Structural X Chromosome Anomalies	Postnatal growth retardation, Hyperinsulinemia, Micrognathia, Genu valgum, Type II diabetes melli...	ORPHA:99413
Mosaic Monosomy X	Postnatal growth retardation, Hyperinsulinemia, Micrognathia, Genu valgum, Type II diabetes melli...	ORPHA:99228
Monosomy X	Postnatal growth retardation, Hyperinsulinemia, Micrognathia, Genu valgum, Type II diabetes melli...	ORPHA:99226
Turner Syndrome	Postnatal growth retardation, Hyperinsulinemia, Micrognathia, Genu valgum, Type II diabetes melli...	ORPHA:881
Stuve-Wiedemann Syndrome 2	Intrauterine growth retardation, Bowing of the long bones, Short long bone, Thrombocytopenia, Cam...	OMIM:619751
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly,...	ORPHA:169154
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Familial Adenomatous Polyposis	Abnormal cementum morphology, Abnormality of the dentition, Neoplasm of the gallbladder, Eruption...	ORPHA:733
Nance-Horan Syndrome	Diastema, Supernumerary maxillary incisor, Mulberry molar, Short phalanx of finger, Screwdriver-s...	OMIM:302350
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a...	ORPHA:240
Den Hoed-De Boer-Voisin Syndrome	Small hand, Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Sa...	OMIM:619229
Ophthalmomandibulomelic Dysplasia	Radioulnar dislocation, Radial bowing, Lateral humeral condyle aplasia, Elbow dislocation, Tempor...	OMIM:164900
Juvenile Nephropathic Cystinosis	Hypouricemia, Polydipsia, Failure to thrive, Elevated circulating creatinine concentration, Hypoc...	ORPHA:411634
Emanuel Syndrome	Broad jaw, Tooth malposition, Bifid uvula, Submucous cleft lip, Dental crowding, Delayed eruption...	ORPHA:96170
Ulnar Hypoplasia	Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio...	OMIM:191440
Anaplastic Thyroid Carcinoma	Goiter, Anaplastic thyroid carcinoma, Weight loss, Nodular goiter, Dysphagia	ORPHA:142
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Graves disease, Hypomagnesemia, Obesity, Weight loss, Hyperthyroidism, Hype...	ORPHA:79102
Difference Of Sex Development-Intellectual Disability Syndrome	Downturned corners of mouth, Hypogonadism, Genu valgum, Thin vermilion border, Short philtrum, Re...	ORPHA:2983
Thyroid Cancer, Nonmedullary, 1	Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Goiter	OMIM:188550
Weyers Ulnar Ray/Oligodactyly Syndrome	Mesomelia, Finger aplasia, Absent thumb, Cleft upper lip, Micrognathia, Proximal radial head disl...	OMIM:602418
Robinow Syndrome, Autosomal Recessive 2	Wide nasal bridge, Abnormality of the dentition, Broad thumb, Clinodactyly, Long philtrum, Promin...	OMIM:618529
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Hypoplastic scapulae, Finger syndactyly, Micrognathia, Elevated 8-dehydrocholesterol, 2-5 finger ...	OMIM:308050
Familial Adenomatous Polyposis 1	Carious teeth, Eruption failure, Hepatoblastoma, Odontoma, Supernumerary tooth	OMIM:175100
Geleophysic Dysplasia 1	Osteopenia, Joint contracture of the hand, Irregular capital femoral epiphysis, Cone-shaped epiph...	OMIM:231050
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Finger syndactyly, Micrognathia, Cryptorchidism, Abnormal metacarpal ...	ORPHA:818
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Schimke Immuno-Osseous Dysplasia	Shallow acetabular fossae, Lymphopenia, Disproportionate short-trunk short stature, Neutropenia, ...	ORPHA:1830
Liang-Wang Syndrome	Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Downturned corners of mout...	OMIM:618729
Sheehan Syndrome	Central adrenal insufficiency, Decreased serum estradiol, Sparse pubic hair, Breast hypoplasia, O...	ORPHA:91355
Tetragametic Chimerism	Abnormal cellular immune system morphology, Clitoral hypertrophy, Bifid scrotum, Abnormality of t...	ORPHA:199310
Thyroid Dyshormonogenesis 1	Macroglossia, Hypothyroidism, Goiter	OMIM:274400
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Adrenocorticotropin deficient adrenal insufficiency, Failure to thrive, Decreased respo...	ORPHA:293978
Thrombocytopenia, Anemia, And Myelofibrosis	Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia, Myelofibrosis	OMIM:617441
Chromosome 13Q33-Q34 Deletion Syndrome	Cleft lip, Delayed eruption of teeth, Short thumb, Overlapping toe, Micrognathia, Open mouth, Irr...	OMIM:619148
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Rhizomelia, Metaphyseal cupping, Neonatal short-limb short stature, Severe limb shortening, Radia...	OMIM:151210
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Atypical Werner Syndrome	Limitation of joint mobility, Insulin-resistant diabetes mellitus, Neoplasm of the oral cavity, S...	ORPHA:79474
Kabuki Syndrome 2	Short 5th finger, Natal tooth, Dental malocclusion, Prominent fingertip pads, Postnatal growth re...	OMIM:300867
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Single transverse palmar crease, Adducted thumb, Brachydactyly, Short stature, Notched primary ce...	OMIM:620062
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Persistence of hemoglobin F, Persistence of primary teeth, Overweight, Patent du...	OMIM:619769
Intellectual Disability, Buenos-Aires Type	Wide nasal bridge, Dental malocclusion, Open bite, Abnormal dental morphology, Reduced bone miner...	ORPHA:3079
Immunodeficiency 82 With Systemic Inflammation	Reduced natural killer cell count, Hepatitis, Osteomalacia, Osteomyelitis, Decreased proportion o...	OMIM:619381
Familial Glucocorticoid Deficiency	Leydig cell neoplasia, Precocious puberty, Abnormal circulating adrenocorticotropin concentration...	ORPHA:361
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Limitation of joint mobility, Hypoplastic iliac wing, Postnatal growth reta...	OMIM:223800
Malan Syndrome	Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, Advanced eruption...	OMIM:614753
Systemic Lupus Erythematosus 17	Lymphopenia, Leukopenia, Oral ulcer, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Blepharophimosis-Impaired Intellectual Development Syndrome	Short distal phalanx of finger, Dental malocclusion, Delayed skeletal maturation, Widely spaced t...	OMIM:619293
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia, Hyperparathyroidism, Hypercalcemia, Bone cyst	ORPHA:2668
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Distal amyotrophy, Growth delay, Hearing impairment, Decreased nerve conduction velocity, Hepatos...	OMIM:609136
Adrenal Hypoplasia, Congenital	Precocious puberty, Muscular dystrophy, Failure to thrive, Absence of pubertal development, Azoos...	OMIM:300200
Cerebroretinal Microangiopathy With Calcifications And Cysts 3	Intrauterine growth retardation, Recurrent fractures	OMIM:620368
Thyroid Lymphoma	Goiter, Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Dysphagia	ORPHA:97285
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Sparse eyebrow, Failure to thrive, Alopecia of scalp, Sparse eyelashes, Adducted thumb, Short sta...	OMIM:618874
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,...	ORPHA:424
Fibular Aplasia-Complex Brachydactyly Syndrome	Synostosis of carpal bones, Limitation of joint mobility, Micromelia, Abnormal tibia morphology, ...	ORPHA:2639
Schinzel-Giedion Midface Retraction Syndrome	Short distal phalanx of finger, Increased density of long bones, Short 1st metacarpal, Failure to...	OMIM:269150
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Coarse metaphyseal trabecularization, Flared metaphysis, Thickened cortex of long bones, Hip dysp...	OMIM:620558
Mucolipidosis Iii Alpha/Beta	Shallow acetabular fossae, Limitation of joint mobility, Irregular carpal bones, Carpal bone hypo...	OMIM:252600
Thyroid Hormone Plasma Membrane Transport Defect	Euthyroid hyperthyroxinemia, Goiter	OMIM:188560
Deiodinase, iodothyronine, type I	Euthyroid hyperthyroxinemia, Goiter	OMIM:147892
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Abnormal T cell count, Abnormal B cell cou...	OMIM:613493
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Hepatosplenomegaly, Fibular apl...	OMIM:274000
Hypoparathyroidism, Familial Isolated, 2	Decreased circulating parathyroid hormone level, Hypocalcemic seizures, Hyperphosphatemia, Hypoca...	OMIM:618883
Sotos Syndrome	High, narrow palate, Long metacarpals, Genu valgum, Narrow jaw, Joint hypermobility, Increased bo...	OMIM:117550
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Lymph node ...	OMIM:602450
Mohr-Tranebjaerg Syndrome	Increased susceptibility to fractures	OMIM:304700
Beare-Stevenson Cutis Gyrata Syndrome	Bifid uvula, Narrow palate, Natal tooth, Overlapping toe, Gingival overgrowth, Limited elbow exte...	OMIM:123790
Medullary Thyroid Carcinoma	Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Wei...	ORPHA:1332
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Recurr...	OMIM:615518
Hyperaldosteronism, Familial, Type I	Decreased circulating renin level	OMIM:103900
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Splenomegaly, Portal hypertension, Abnormality of the lymphatic system, Biliary t...	ORPHA:1414
Thyrocerebrorenal Syndrome	Euthyroid goiter, Thrombocytopenia	ORPHA:3327
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Micromelia, Obesity, Genu valgum, Joint hypermobility, Arachnodactyly, Short stature,...	ORPHA:1035
Gardner Syndrome	Abnormality of the dentition, Multiple unerupted teeth, Hepatoblastoma, Odontoma, Supernumerary t...	ORPHA:79665
Ellis-Van Creveld Syndrome	Neonatal short-limb short stature, Postaxial foot polydactyly, Natal tooth, Delayed eruption of t...	OMIM:225500
Cartilage-Hair Hypoplasia	Absent pubertal growth spurt, Lymphopenia, Sparse eyelashes, Neutropenia, Metaphyseal dysplasia, ...	OMIM:250250
Congenital Disorder Of Glycosylation, Type Iiw	Type I diabetes mellitus, Failure to thrive, Increased hepatic echogenicity, Microcytic anemia, A...	OMIM:619525
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Clinodactyly, Failure to thrive, Lymphadenopathy, Thrombo...	OMIM:618048
Achondrogenesis, Type Ia	Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe...	OMIM:200600
Oculoskeletodental Syndrome	Elbow flexion contracture, Splenomegaly, Cryptorchidism, Oligodontia, Low posterior hairline, Low...	OMIM:618440
Acrocallosal Syndrome	Toe syndactyly, Postaxial foot polydactyly, Everted upper lip vermilion, Finger syndactyly, Postn...	OMIM:200990
Marshall Syndrome	Radial bowing, Thick upper lip vermilion, Micrognathia, Absent frontal sinuses, Knee osteoarthrit...	OMIM:154780
Cinca Syndrome	Growth delay, Leukocytosis, Splenomegaly, Hepatomegaly, Brachydactyly, Elevated circulating C-rea...	ORPHA:1451
Thyrocerebroretinal Syndrome	Thrombocytopenia, Goiter	OMIM:274240
Leukodystrophy, Hypomyelinating, 24	Severe short stature, Flexion contracture, B lymphocytopenia	OMIM:619851
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Carious teeth, Natal tooth, Cryptorchidism, Motor stereotypy, Hypospadias, Vascular ring, Self-in...	ORPHA:353281
Multiple Pterygium-Malignant Hyperthermia Syndrome	Severe short stature, Ulnar deviation of finger, Downturned corners of mouth, Abnormal mandible m...	ORPHA:2215
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Carious teeth, Foot joint contracture, Abnormal circulating selenium concentration, A...	ORPHA:79408
Metachromatic Leukodystrophy	Hearing impairment, Decreased nerve conduction velocity, Abnormal gallbladder morphology, Neoplas...	ORPHA:512
Atelosteogenesis, Type I	Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Cryptorchidism, Talipes equinova...	OMIM:108720
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Primary Sclerosing Cholangitis	Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Weight loss, Cirrhosis, Hepat...	ORPHA:171
Ciliary Dyskinesia, Primary, 51	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo...	OMIM:620438
Wolf-Hirschhorn Syndrome	Micrognathia, Cryptorchidism, Arachnodactyly, Talipes equinovarus, Short hallux, Downturned corne...	ORPHA:280
Ring Chromosome Y Syndrome	Streak ovary, Cryptorchidism, Abnormality of the female genitalia, Hypospadias, Male infertility,...	ORPHA:261529
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Osteomalacia, Pancreatitis, Hypocalcemic seizures, Hyper...	ORPHA:405
Cornelia De Lange Syndrome 1	Micrognathia, Dislocated radial head, High palate, High, narrow palate, Downturned corners of mou...	OMIM:122470
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Bifid uvula, Broad distal phalanx of finger, Dental crowding, Delayed eruption of teeth, Microgna...	OMIM:300990
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Localized osteoporosis	ORPHA:199354
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Hepatitis, Increased circulating IgE level, Intrauterine growth retardation, Leukocytosis, Autoim...	OMIM:620565
Castleman Disease	Follicular hyperplasia, Jaundice, Generalized lymphadenopathy, Weight loss, Lymphadenopathy, Thro...	ORPHA:160
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Annular pancreas, Elbow contracture, Sclerosis of skull base, Delayed pubic bone ossi...	OMIM:618162
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Absent circulating B cells, Recurrent sinusitis	OMIM:619707
Rhabdomyosarcoma, Embryonal, 2	Multinodular goiter, Ovarian thecoma, Thyroid nodule, Goiter	OMIM:180295
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	High palate, Growth delay, Retrognathia, B lymphocytopenia	OMIM:614069
Spermatogenic Failure 38	Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm...	OMIM:618433
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Periostitis, Failure to thrive in infancy, Osteomyelitis, Abscess, Splenomegaly, Hepa...	OMIM:612852
Gm1 Gangliosidosis	Coarse metaphyseal trabecularization, Failure to thrive, Long philtrum, Camptodactyly of finger, ...	ORPHA:354
Genetic Transient Congenital Hypothyroidism	Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin...	ORPHA:226316
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Osteomalacia, Exocrine pancreatic insufficiency, Iron deficiency anemia, Weight loss, Os...	ORPHA:309031
Reticular Dysgenesis	Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus	OMIM:267500
Glycogen Storage Disease Ia	Gout, Hyperlipidemia, Hyperuricemia, Hepatomegaly, Delayed puberty, Pancreatitis, Short stature, ...	OMIM:232200
Microphthalmia, Syndromic 2	Hand clenching, Cryptorchidism, Contracture of the proximal interphalangeal joint of the 2nd toe,...	OMIM:300166
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic fibrosis, Hepatic failure, Cholestasis, Obesity, Genu valgum, Splenomegaly, Orofacial cle...	OMIM:615630
Slc39A8-Cdg	Osteopenia, Cutaneous syndactyly of toes, Disproportionate short-limb short stature, Elbow flexio...	ORPHA:468699
Premature Ovarian Failure 13	Female infertility, Amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone...	OMIM:617442
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth	OMIM:272300
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors	Euthyroid multinodular goiter, Papillary thyroid carcinoma	OMIM:138800
Emanuel Syndrome	Broad jaw, Congenital hip dislocation, Dental crowding, Failure to thrive, Long philtrum, Intraut...	OMIM:609029
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Small hand, Broad femoral neck, Retrognathia, Delayed skeletal maturation, Thickened ...	ORPHA:488434
Akt2-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr...	ORPHA:79085
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly, Micromelia	OMIM:273680
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Abnormal auditory evoked potentials, Irregular epiphyses, Sensorineural hearing impairment, Short...	OMIM:619260
Roberts Syndrome	Synostosis of carpal bones, Finger syndactyly, Postnatal growth retardation, Micrognathia, Patell...	ORPHA:3103
Multiple Osteochondromas	Limitation of joint mobility, Abnormal tibia morphology, Limited hip movement, Genu valgum, Bowin...	ORPHA:321
Duplication Of The Pituitary Gland	Retrognathia, Abnormality of joint mobility, Decreased body weight, Short stature, Supernumerary ...	ORPHA:314621
Hypomagnesemia 3, Renal	Rickets, Failure to thrive, Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide ...	OMIM:248250
Oculocutaneous Albinism Type 1A	Abnormality of visual evoked potentials	ORPHA:79431
Developmental And Epileptic Encephalopathy 41	Flexion contracture, Delayed eruption of teeth	OMIM:617105
Cidec-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Pancreatiti...	ORPHA:435651
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Smooth tongue, Failure to thrive, Oral mucosal blisters, Enamel hypoplasia, Anemia, Craniosynosto...	ORPHA:79396
Mandibuloacral Dysplasia	Dental crowding, Contractures of the large joints, Abnormal tongue morphology, Postnatal growth r...	ORPHA:2457
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Hepatomegaly, Increased circulating free fatty acid level, Hypophosphatemia, Hepatic steatosis	OMIM:605911
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w...	OMIM:619313
Cockayne Syndrome Type 2	Widely spaced primary teeth, Intrauterine growth retardation, Hypoplasia of the primary teeth, De...	ORPHA:90322
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Bifid uvula, Tooth malposition, Failure of eruption of permanent teeth, Submucous cleft hard pala...	ORPHA:2250
Cushing Disease	Increased circulating cortisol level, Pituitary corticotropic cell adenoma, Increased urinary cor...	ORPHA:96253
Congenital Erythropoietic Porphyria	Osteopenia, Unconjugated hyperbilirubinemia, Erythrodontia, Leukopenia, Erythroid hyperplasia, Ab...	ORPHA:79277
Pgm3-Cdg	Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous...	ORPHA:443811
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Lymphopenia, Pancytopenia, Micrognathia, Open mouth, High palate, Patent ductus arteriosus, Synda...	OMIM:620654
Dyssegmental Dysplasia, Silverman-Handmaker Type	Severe short stature, Wide nasal bridge, Limitation of joint mobility, Micromelia, Clubbing of fi...	ORPHA:1865
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Micrognathia, ...	OMIM:268310
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Micromelia, Preaxial polydactyly, Micrognathia, Ulnar bowing, Decreased calvarial ...	OMIM:617866
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Delayed...	OMIM:157980
Mucopolysaccharidosis Type 4	Abnormality of the dentition, Carious teeth, Abnormal dental enamel morphology, Grayish enamel, R...	ORPHA:582
Dubowitz Syndrome	Carious teeth, Aplastic anemia, Velopharyngeal insufficiency, Delayed eruption of teeth, Delayed ...	OMIM:223370
Image Syndrome	Micromelia, Hypogonadism, Intrauterine growth retardation, Cryptorchidism, Adrenal hypoplasia, Me...	ORPHA:85173
Cardioacrofacial Dysplasia 2	Conical tooth, Postaxial foot polydactyly, Genu valgum, Tented upper lip vermilion, Hypodontia, D...	OMIM:619143
Neurofibromatosis Type 1	Osteopenia, Chronic myelogenous leukemia, Slender long bone, Joint stiffness, Genu valgum, Abnorm...	ORPHA:636
Lipe-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Abnormal labia majora morpholog...	ORPHA:435660
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Glutaric Aciduria Iii	Hyperthyroidism, Failure to thrive, Goiter	OMIM:231690
Nievergelt Syndrome	Mesomelic short stature, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Metatarsus addu...	OMIM:163400
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level...	ORPHA:1359
Amelogenesis Imperfecta, Type Ia	Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia	OMIM:104530
Hypertrichosis Cubiti	Severe short stature, Rhizomelia, Micromelia, Joint hypermobility, Abnormality of the elbow	ORPHA:2220
Oculoskeletodental Syndrome	Short 5th finger, Abnormality of the dentition, Retrognathia, Clinodactyly, Delayed skeletal matu...	ORPHA:557003
Familial Gestational Hyperthyroidism	Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,...	ORPHA:99819
Saul-Wilson Syndrome	Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hearing impairment, Overtubul...	OMIM:618150
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth	OMIM:615905
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, Chronic sinusitis, B lymphocytopenia	OMIM:612692
Campomelic Dysplasia	Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Shortening of all phalanges...	OMIM:114290
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion...	OMIM:613011
Andersen-Tawil Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Small hand, Dental crowding, Growth dela...	ORPHA:37553
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Wiskott-Aldrich Syndrome	Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia...	ORPHA:906
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Micromelia, Abnormality of the wrist, Short humerus, Hypothyroidism, Aplasia/Hypoplasia of the ul...	ORPHA:2491
Pyknoachondrogenesis	Abnormal intramembranous ossification, Craniofacial hyperostosis, Short iliac bones, Sclerosis of...	ORPHA:3003
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Distal amyotrophy, Decreased motor ne...	OMIM:601596
Short-Rib Thoracic Dysplasia 12	Periportal fibrosis, Hypoplastic scapulae, Natal tooth, Short toe, Short finger, Hamartoma of ton...	OMIM:269860
Isolated Cleft Lip	Small for gestational age, Velopharyngeal insufficiency, Supernumerary maxillary incisor, Macrodo...	ORPHA:199302
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilo...	OMIM:615234
Primary Biliary Cholangitis	Hypoalbuminemia, Hepatic fibrosis, Biliary cirrhosis, Hepatitis, Abnormal circulating lipid conce...	ORPHA:186
Orofaciodigital Syndrome Type 10	Short tibia, Fibular aplasia, Cleft soft palate, Micrognathia, Tarsal synostosis, Mesomelic arm s...	ORPHA:2756
Bleeding Disorder, Platelet-Type, 17	Myelofibrosis, Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Mac...	OMIM:187900
Autosomal Recessive Spastic Paraplegia Type 11	Hypothalamic atrophy, Distal amyotrophy, Lateral ventricle dilatation, Lower limb muscle weakness...	ORPHA:2822
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Absent brainstem auditory responses, Gliosis, Thrombocytopenia, Hypochromic microcytic anemia, Ve...	ORPHA:3240
Kleefstra Syndrome Due To A Point Mutation	Abnormality of the dentition, Natal tooth, Tracheomalacia, Failure to thrive, Thick lower lip ver...	ORPHA:261652
Restrictive Dermopathy 1	Rocker bottom foot, Natal tooth, Overtubulated long bones, Temporomandibular joint ankylosis, Int...	OMIM:275210
Amelo-Onycho-Hypohidrotic Syndrome	Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent...	ORPHA:1028
X-Linked Agammaglobulinemia	Alopecia, Failure to thrive, Osteomyelitis, Hypocalcemia, Weight loss, Neutropenia, Sinusitis, An...	ORPHA:47
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Hyperbili...	OMIM:301068
Familial Isolated Hypoparathyroidism	Abnormal circulating calcium-phosphate regulating hormone concentration, Delayed eruption of teet...	ORPHA:2238
Mesomelic Dysplasia, Kantaputra Type	Ulnar deviation of finger, Synostosis of carpal bones, Camptodactyly of finger, Dumbbell-shaped h...	ORPHA:1836
Rabson-Mendenhall Syndrome	Clitoral hypertrophy, Insulin-resistant diabetes mellitus, Premature graying of hair, High palate...	ORPHA:769
Blepharochalasis And Double Lip	Duplication of the upper lip, Goiter	OMIM:109900
Mandibuloacral Dysplasia Progeroid Syndrome	Decreased fibular diameter, Postnatal growth retardation, Dysplasia of the femoral head, Microgna...	OMIM:619127
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Thick vermilion border, Malar flattening, Elliptocytosis, Thin vermilion border, Supernumerary to...	ORPHA:86818
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Disproportionate short stature, Downturned corners of mouth, Retrognathia, Lymphopenia, Leukopeni...	OMIM:301110
Zimmermann-Laband Syndrome 1	Short distal phalanx of finger, Mandibular prognathia, Downturned corners of mouth, Delayed erupt...	OMIM:135500
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Natal tooth, Delayed eruption of teeth, Oligodontia, Hypodontia, Short stature, Growth delay, Hip...	OMIM:614381
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Hypopituitarism, Decreased response to growth hormone stimulation te...	ORPHA:226307
Microcephaly-Micromelia Syndrome	Absent thumb, Short tibia, Micromelia, Oligodactyly, Intrauterine growth retardation, Micrognathi...	OMIM:251230
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Short stature, Decreased circulatin...	OMIM:601198
Microcephalic osteodysplastic primordial dwarfism, type III	Severe short stature, Ulnar deviation of finger, Thick upper lip vermilion, Hypoplasia of the cap...	OMIM:210730
Short Stature, Microcephaly, And Endocrine Dysfunction	Tooth malposition, Disproportionate short-limb short stature, Clinodactyly, Abnormal circulating ...	OMIM:616541
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Infantile Myofibromatosis	Limitation of joint mobility, Abnormal hair morphology, Hypercalcemia, Neoplasm of the pancreas, ...	ORPHA:2591
Seckel Syndrome 5	Retrognathia, Selective tooth agenesis, Delayed skeletal maturation, Micrognathia, Oligodontia, H...	OMIM:613823
Immunodeficiency 33	Hypodontia, Conical tooth, Delayed eruption of teeth	OMIM:300636
Noonan Syndrome	Osteopenia, Juvenile myelomonocytic leukemia, Delayed skeletal maturation, Thick lower lip vermil...	ORPHA:648
Craniosynostosis And Dental Anomalies	Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Dental malocclu...	OMIM:614188
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Hypoplasia of the zygomatic bone, Long philtrum, Sandal gap, Micromelia, Broad hallux, Postnatal ...	OMIM:614800
Trisomy 10P	Low-set ears, Abnormal auditory evoked potentials, Growth delay, Short toe, Decreased muscle mass...	ORPHA:171929
8P Inverted Duplication/Deletion Syndrome	High, narrow palate, Contractures of the large joints, Long philtrum, Retrognathia, Micrognathia,...	ORPHA:96092
Kleefstra Syndrome 1	Natal tooth, Persistence of primary teeth, Obesity, Protruding tongue, Malar flattening, Everted ...	OMIM:610253
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Polycystic ovar...	ORPHA:2298
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Fine hair, Tooth agenesis, Sparse lateral eyebrow, Abnormal dental mor...	ORPHA:3353
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Abnormality of the dentition, Lymphopenia, 2-3 toe syndactyly, Thin vermilion border, Short stature	ORPHA:391307
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Flexion contracture, Arthrogryposis multiplex congenita, Patent ductus arteriosus, Multiple prena...	OMIM:616867
Cenani-Lenz Syndactyly Syndrome	Broad hallux, Micrognathia, Malar flattening, Radioulnar synostosis, Hypodontia, Enamel hypoplasi...	OMIM:212780
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Mesomelia, Short distal phalanx of finger, Hypoplastic scapulae, Hepatic fibrosis, Short uvula, M...	OMIM:614091
Myoectodermal Gonadal Dysgenesis Syndrome	Low-set ears, Bifid distal phalanx of toe, Elevated circulating luteinizing hormone level, Cutane...	OMIM:618419
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Intrauterine growth retardation, Leukocytosis, Autoimmune hemolytic anemia, Interfac...	OMIM:243150
Doors Syndrome	Short lingual frenulum, Open mouth, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Abnormal ...	ORPHA:79500
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone...	ORPHA:85327
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Bardet-Biedl Syndrome 1	High, narrow palate, Dental crowding, Hypogonadism, Decreased testicular size, Abnormality of the...	OMIM:209900
Metaphyseal Anadysplasia 2	Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin...	OMIM:613073
Robinow Syndrome, Autosomal Dominant 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Micrognathia, Short lingual f...	OMIM:180700
4Q21 Microdeletion Syndrome	Abnormality of the dentition, Small hand, Toe syndactyly, Downturned corners of mouth, Micromelia...	ORPHA:238750
Spinocerebellar Ataxia-Dysmorphism Syndrome	Downturned corners of mouth, Joint hypermobility, Cubitus valgus, Thick vermilion border, Short s...	ORPHA:1185
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Xerostomia, Hypomagnesemia, Nail dystrophy, Hypocalcemia, Hypokalemia, Cachexia, Anorex...	OMIM:175500
Occipital Horn Syndrome	Long philtrum, Decreased circulating ceruloplasmin concentration, Genu valgum, Limited elbow exte...	OMIM:304150
Omenn Syndrome	Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Ly...	OMIM:603554
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Metaphyseal dysplasia, Disproportionate short-limb short stature, Fem...	OMIM:618019
Macrocephaly/Autism Syndrome	Long philtrum, Lymphopenia, Obesity, Large for gestational age, Splenomegaly, Joint hypermobility...	OMIM:605309
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Clinodactyly of the 2nd finger, Long philtrum, Micromelia, Monkey wrench femor...	OMIM:618870
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Short distal phalanx of finger, Delayed eruption of teeth, Clinodactyly, Intrauterine growth reta...	OMIM:615866
Campomelia, Cumming Type	Clubbing of toes, Micromelia, Bowing of the long bones, Abnormality of the pancreas, Brachydactyl...	ORPHA:1318
Spondyloepiphyseal Dysplasia, Kimberley Type	Micromelia, Osteoarthritis, Proportionate short stature	ORPHA:93283
Proteasome-Associated Autoinflammatory Syndrome 3	Finger swelling, Elevated circulating hepatic transaminase concentration, Failure to thrive, Lymp...	OMIM:617591
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Agenesis of corpus callosu...	OMIM:109120
Glutamine Deficiency, Congenital	Wide nasal bridge, Micromelia, Hyperammonemia, Hypoglutaminemia, Camptodactyly, Thin vermilion bo...	OMIM:610015
Cooper-Jabs Syndrome	Camptodactyly of finger, Malar flattening, Joint hypermobility, Missing ribs, Short stature, Redu...	ORPHA:1488
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Osteopenia, Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidi...	OMIM:614837
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea...	OMIM:619846
Genitopatellar Syndrome	Hypoplastic ilia, Delayed eruption of teeth, Long philtrum, Micrognathia, Patellar aplasia, Knee ...	ORPHA:85201
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Immunodeficiency 70	Decreased proportion of CD4-positive helper T cells, Recurrent sinusitis, B lymphocytopenia	OMIM:618969
Stormorken Syndrome	Howell-Jolly bodies, Short stature, Thrombocytopenia, Anemia, Asplenia, Short philtrum, Hypoplast...	OMIM:185070
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Failure to thrive in i...	OMIM:619510
Cardioacrofacial Dysplasia 1	Conical tooth, Hypoplasia of the maxilla, Diastema, Genu valgum, Postaxial polydactyly, Limb unde...	OMIM:619142
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Oligodontia, Hypodontia, Delayed puberty, Short stature	ORPHA:447896
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly	ORPHA:2266
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Low-set ears, Hearing impairment, Recurrent otitis media, Curly hair, Precocious puberty, Promine...	OMIM:619950
X-Linked Intellectual Disability Due To Gria3 Mutations	Macrodontia of permanent maxillary central incisor, Narrow palate, Slender build, Thick vermilion...	ORPHA:364028
Immunodeficiency 9	Failure to thrive, Lymphopenia, Recurrent aphthous stomatitis, Hypoplasia of the thymus, Amelogen...	OMIM:612782
Kagami-Ogata Syndrome	Hypoplasia of the maxilla, Retrognathia, Long philtrum, Micrognathia, Splenomegaly, Limb undergro...	OMIM:608149
Immunodeficiency 36 With Lymphoproliferation	Growth delay, Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of tran...	OMIM:616005
Hepatoerythropoietic Porphyria	Osteopenia, Erythrodontia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, S...	ORPHA:95159
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	High, narrow palate, Osteopenia, Elbow flexion contracture, Generalized joint hypermobility, Join...	ORPHA:1900
Jeune Syndrome	Toe syndactyly, Postaxial foot polydactyly, Micromelia, Abnormality of the liver, Brachydactyly, ...	ORPHA:474
Acromesomelic Dysplasia 2C	Shortening of all middle phalanges of the fingers, Short tibia, Radial bowing, Short thumb, Elbow...	OMIM:201250
Microphthalmia With Limb Anomalies	Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Postnatal growth retardation, Talipes e...	OMIM:206920
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ...	ORPHA:440354
Diffuse Neonatal Hemangiomatosis	Anemia, Hypercalcemia, Abnormal vagina morphology, Thrombocytopenia	ORPHA:2123
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Postnatal growth retardation, Intrauterine growth retardation, Joint hypermobility, A...	OMIM:616603
Premature Ovarian Failure 9	Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir...	OMIM:615724
Cushing Syndrome Due To Ectopic Acth Secretion	Increased circulating cortisol level, Abnormal lymph node morphology, Increased urinary cortisol ...	ORPHA:99889
Immunodeficiency 62	Decreased proportion of memory B cells, Autoimmune thrombocytopenia, Increased proportion of tran...	OMIM:618459
Wilson Disease	Hypouricemia, Osteomalacia, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Hypoparathyroidism,...	OMIM:277900
Mullerian Aplasia And Hyperandrogenism	Aplasia of the fallopian tube, Aplasia of the vagina, Hirsutism, Increased circulating androstene...	OMIM:158330
Alpha-Heavy Chain Disease	Anemia, Alopecia, Splenomegaly, Hypocalcemia	ORPHA:100025
Cowden Syndrome	Follicular thyroid carcinoma, Palmoplantar keratoderma, Failure to thrive, Goiter, Furrowed tongu...	ORPHA:201
Pendred Syndrome	Thyroid carcinoma, Hyperparathyroidism, Hypothyroidism, Goiter	ORPHA:705
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Broad long bones, Micrognathia, Broad phalanx, High palate, Short metacarpal, Disproportionate sh...	OMIM:271665
Leukocyte Adhesion Deficiency Type Ii	Microcytic anemia, Overlapping toe, Protruding tongue, Neutrophilia, Hepatomegaly, Anemia, Small ...	ORPHA:99843
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Toe syndactyly, Hearing impairment, Finger syndactyly, Cryptorchid...	ORPHA:84
Late-Onset Junctional Epidermolysis Bullosa	Carious teeth, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79406
Myotonic Dystrophy 2	Decreased circulating IgG level, Sternocleidomastoid amyotrophy, Frontal balding, Hypogonadism, T...	OMIM:602668
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, Recurrent sinusitis, B lymphocytopenia	ORPHA:217390
Congenital Disorder Of Glycosylation, Type Iib	Retrognathia, Elevated circulating aspartate aminotransferase concentration, Overlapping fingers,...	OMIM:606056
Dyskeratosis Congenita, X-Linked	Bone marrow hypocellularity, Carious teeth, Oral leukoplakia, Decreased testicular size, Pancytop...	OMIM:305000
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Disproportionate short stature, Synostosis of carpal bones, Micromelia...	ORPHA:2634
Sjogren-Larsson Syndrome	Short stature, Flexion contracture, Enamel hypoplasia	OMIM:270200
Acromesomelic Dysplasia, Hunter-Thompson Type	Short thumb, Elbow dislocation, Joint stiffness, Bilateral single transverse palmar creases, Shor...	ORPHA:968
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Enamel hypoplasia, Failure to thrive, Syndactyly	OMIM:226700
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Long philtrum, Thick lower lip vermilion, Thick upper lip vermilion, Broad long bones, Aplasia/Hy...	ORPHA:163654
Adrenomyodystrophy	Failure to thrive, Primary adrenal insufficiency, Hepatic steatosis, Short stature, Reduced bone ...	ORPHA:977
Aspartylglucosaminuria	Macroglossia, Pathologic fracture, Joint hypermobility, Neutropenia, Hepatomegaly, Vacuolated lym...	OMIM:208400
Mucolipidosis Type Ii	Hip dislocation, Limitation of joint mobility, Decreased movement range in interphalangeal joints...	ORPHA:576
Autoimmune Polyendocrinopathy Type 4	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Osteopenia, Thym...	ORPHA:227990
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, Sinusitis, B lymphocytopenia	ORPHA:70593
Spondyloepimetaphyseal Dysplasia, X-Linked	Broad long bones, Disproportionate short-trunk short stature, Broad phalanx, Flat acetabular roof...	OMIM:300106
Autosomal Dominant Progressive External Ophthalmoplegia	Failure to thrive, Goiter, Shoulder girdle muscle weakness, Abnormality of the liver, Elevated ci...	ORPHA:254892
Monosomy 13Q34	Horizontal eyebrow, Obesity, Micrognathia, Metrorrhagia, Hypercalcemia	ORPHA:96168
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Enamel hypoplasia, Syndactyly	OMIM:613576
Mend Syndrome	Low-set ears, Abnormal auditory evoked potentials, Failure to thrive, Broad hallux, Overlapping t...	ORPHA:401973
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Granuloma, Lymphadenitis, Lymphopenia, Hepatosplenomeg...	OMIM:618935
Ataxia-Telangiectasia	Elevated circulating hepatic transaminase concentration, Aplasia/Hypoplasia of the thymus, Failur...	ORPHA:100
Prolidase Deficiency	Carious teeth, Palmoplantar keratoderma, Hypoplasia of the zygomatic bone, Micrognathia, Genu val...	ORPHA:742
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Goiter, Multinodular 2	Euthyroid multinodular goiter	OMIM:300273
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Microretrognathia, Toe syndactyly, Growth delay, Long philtrum, Short finger, Decreased testicula...	ORPHA:459070
Xylt1-Cdg	Broad thumb, Growth delay, Clinodactyly, Long philtrum, Flared metaphysis, Joint hypermobility, S...	ORPHA:370930
Junctional Epidermolysis Bullosa Inversa	Carious teeth, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79405
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density, Bone pain	OMIM:259900
Acromesomelic Dysplasia 4	Radial bowing, Prominent deltoid tuberosities, Genu valgum, Broad toe, Broad phalanx, Short metac...	OMIM:619636
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Advanced eruption of teeth, Short stature, High palate, Mandibular prognathia, Small for gestatio...	OMIM:262190
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Goiter	OMIM:600791
Hypothyroidism, Congenital, Nongoitrous, 1	Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio...	OMIM:275200
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Carious teeth, Natal tooth, Micrognathia, Cryptorchidism, High palate, Motor stereotypy, Hypospad...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Carious teeth, Natal tooth, Micrognathia, Cryptorchidism, High palate, Motor stereotypy, Hypospad...	ORPHA:353277
Scarf Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Long philtrum, Short sternum, Enamel hypop...	OMIM:312830
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Neuronal Intestinal Pseudoobstruction	Natal tooth, Patent ductus arteriosus	ORPHA:99811
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Retrognathia, Long philtrum, Postnatal growth retardation, Intrauterine growth retardation, Eclab...	OMIM:620510
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Dental malocclusion, Clinodactyly of the 2nd finger, Long philtrum, Micrognathia, Cli...	ORPHA:73223
Fused Mandibular Incisors	Abnormality of the dentition, Advanced eruption of teeth	ORPHA:2287
Microphthalmia, Lenz Type	Abnormality of the dentition, Delayed eruption of teeth, Finger syndactyly, Camptodactyly of fing...	ORPHA:568
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Joint contracture of the hand, Clinodactyly, Broad 2nd toe, Open mouth, Elevated circulating alan...	OMIM:280000
Kinsship Syndrome	Osteopenia, Mandibular prognathia, Downturned corners of mouth, Failure to thrive, Thick lower li...	OMIM:619297
Charge Syndrome	Bifid femur, Hypoplasia of the zygomatic bone, Cleft upper lip, Delayed eruption of teeth, Abnorm...	ORPHA:138
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Oral ulcer, Hemolytic anemia, Thrombocytopenia	OMIM:616744
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Broad thumb, Short finger, Malar flattening, Joint hypermobility, Brachydactyly, Meta...	OMIM:612813
Cranioectodermal Dysplasia 2	Clinodactyly, Cholestasis, Micrognathia, Hyperbilirubinemia, Everted lower lip vermilion, Hepatom...	OMIM:613610
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Coxa vara, Short ...	ORPHA:63446
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Hurthle cell thyroid adenoma, Parathyroid carcinoma, Pancreatic adenocarcino...	OMIM:145001
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Wide nasal bridge, Precocious puberty, Disproportionate short stature, Retrognathia, Micromelia, ...	ORPHA:2637
Congenital Disorder Of Deglycosylation 1	Hepatic fibrosis, Small hand, Open mouth, Single transverse palmar crease, Decreased body weight,...	OMIM:615273
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Short tibia, Thumb contracture, Postnatal growth retardation, Hepatosplenom...	ORPHA:96334
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Painless fractures due to injury, Cholestasis, Acute hepatic failure, Hepatic steatosis, Cirrhosi...	OMIM:256810
Pyruvate Dehydrogenase E1-Alpha Deficiency	Intrauterine growth retardation, Single transverse palmar crease, Limb undergrowth, Flexion contr...	ORPHA:79243
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia	OMIM:614832
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hypernatremia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elev...	ORPHA:94093
Kleefstra Syndrome	Limitation of joint mobility, Delayed eruption of teeth, Tracheomalacia, Downturned corners of mo...	ORPHA:261494
Chediak-Higashi Syndrome	Silver-gray hair, Hemophagocytosis, Decreased nerve conduction velocity, Leukopenia, Giant neutro...	OMIM:214500
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Carious teeth, Enamel hypoplasia, Hepatitis, Thick vermilion border	ORPHA:363523
Autoinflammatory Disease, Systemic, X-Linked	Conical tooth, Osteomyelitis, Hepatosplenomegaly, Neutropenia, B lymphocytopenia	OMIM:301081
Primrose Syndrome	Genu valgum, Narrow mouth, Cryptorchidism, Hip contracture, Torus palatinus, High palate, Hypopla...	OMIM:259050
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Autoimmune Polyendocrinopathy Type 3	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Osteopenia, Thym...	ORPHA:227982
Tooth Agenesis, Selective, 3	Oligodontia, Agenesis of permanent molar, Oligodontia of primary teeth, Microdontia	OMIM:604625
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal oral mucosa morphology, Abnormal fingertip morphology, Failure to thrive, Erosion of ora...	ORPHA:79404
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Cryptorchidism, Agenesis of corpus callosum, Sensorineural hearing impairm...	OMIM:194190
Amyloidosis, Hereditary Systemic 2	Renal amyloidosis, Cholestasis, Splenomegaly, Generalized amyloid deposition, Hepatomegaly	OMIM:105200
Multiple Endocrine Neoplasia Type 4	Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso...	ORPHA:276152
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Microretrognathia, Narrow mouth, Multiple prenatal fractures, High palate, Flexion contracture, A...	OMIM:616866
Platyspondylic Dysplasia, Torrance Type	Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Disproportionate short...	ORPHA:85166
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Metaphyseal cupping, Rhizomelia, Dental malocclusion, Increased hepatic echogenicity, Flared meta...	OMIM:608940
Familial Mediterranean Fever	Renal amyloidosis, Leukocytosis, Splenomegaly, Amyloidosis, Orchitis, Peritonitis, Arthritis, Neu...	OMIM:249100
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Reduced bone mineral density, Hypocalcemia, Hypomagnesemia	ORPHA:428
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Infancy onset short-trunk short stature, Short hallux, Cleft maxilla...	ORPHA:508488
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Downturned corners of mouth, Failure to thrive, Widely spaced teeth, Open mouth, Advanced eruptio...	OMIM:617865
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Velocardiofacial Syndrome	Interrupted aortic arch, Right aortic arch with mirror image branching, Velopharyngeal insufficie...	OMIM:192430
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypertrichosis, Pancreatic lymphangiectasis, Micrognathia, Malar flattening, Splenomegaly, Alveol...	OMIM:235255
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Low-set ears, Loose anagen hair, Failure to thrive, Large for gestational age, Long eyelashes, Cr...	OMIM:607721
Prader-Willi Syndrome Due To Translocation	Carious teeth, Micrognathia, Everted lower lip vermilion, Anterior pituitary hypoplasia, Microdon...	ORPHA:177907
Immunodeficiency 68	Lymphadenitis, Abscess, B lymphocytopenia, Septic arthritis, Abnormal natural killer cell count, ...	OMIM:612260
Achondroplasia	Hip joint hypermobility, Rhizomelia, Disproportionate short stature, Obesity, Limited elbow exten...	ORPHA:15
Agammaglobulinemia 2, Autosomal Recessive	Absent circulating B cells, Abnormal T cell morphology	OMIM:613500
Ctcf-Related Neurodevelopmental Disorder	Narrow mouth, Joint contracture of the 5th finger, Cryptorchidism, Short nose, Osteopenia, Promin...	ORPHA:363611
Rubinstein-Taybi Syndrome 1	Broad thumb, Hypoplastic iliac wing, Postnatal growth retardation, Micrognathia, Narrow mouth, Le...	OMIM:180849
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Cachexia, Neutropenia, Abnormal blood ion concentration, Autoimmune thrombocytopenia, Alopecia, F...	ORPHA:37042
Chondrodysplasia-Difference Of Sex Development Syndrome	Severe short stature, Micromelia, Increased skull ossification, Intrauterine growth retardation, ...	ORPHA:1422
Inherited Creutzfeldt-Jakob Disease	Amyloidosis of peripheral nerves, Astrocytosis, EEG with persistent abnormal rhythmic activity, A...	ORPHA:282166
Immunodeficiency 92	Osteomyelitis, Thrombocytosis, Leukocytosis, Sclerosing cholangitis, Lymphocytosis, Decreased pro...	OMIM:619652
Hereditary Fructose Intolerance	Hypermagnesemia, Hyperuricemia, Hypophosphatemia, Hepatomegaly, Jaundice, Growth delay	ORPHA:469
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Conical tooth, Dental malocclusion, Clinodactyly, Sandal gap, Broad hallux, 3-4 toe syndactyly, P...	OMIM:618727
Chromosome 14Q32 Duplication Syndrome, 700-Kb	Chronic myelomonocytic leukemia, Myelofibrosis, Acute myeloid leukemia	OMIM:616604
Neuroblastoma	Pathologic fracture, Weight loss, Lymphadenopathy, Thrombocytopenia, Anemia, Bone pain	ORPHA:635
Lipodystrophy, Congenital Generalized, Type 2	Acute pancreatitis, Clitoral hypertrophy, Labial hypertrophy, Hyperinsulinemia, Decreased fertili...	OMIM:269700
Resistance To Thyrotropin-Releasing Hormone Syndrome	Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra...	ORPHA:99832
Osteogenesis Imperfecta, Type Xx	Disproportionate short-limb short stature, Retrognathia, Agenesis of permanent teeth, Intrauterin...	OMIM:618644
Immunodeficiency, Common Variable, 13	Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abnormality of the uterus, Hypertrichosis, Pancreatic lymphangiectasis, Hepatosplenomegaly, Micro...	ORPHA:1655
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Aplasia/Hypoplasia of the capital femoral epiphysis, Flared metaphysis, Pre...	OMIM:215150
Meckel Syndrome, Type 9	Talipes equinovarus, Limb undergrowth	OMIM:614209
Orofaciodigital Syndrome Type 1	Finger syndactyly, Open bite, Micrognathia, Foot polydactyly, Tarsal synostosis, High palate, Acc...	ORPHA:2750
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated circulating hepatic transaminase concentration, Hypogonadism, Hepatosplenomegaly, Azoosp...	ORPHA:300298
Paget Disease Of Bone 6	Recurrent fractures, Osteoarthritis, Bone pain	OMIM:616833
Opitz Gbbb Syndrome	Cleft lip, Natal tooth, Tracheomalacia, Long philtrum, Ankyloglossia, Micrognathia, Hypodontia, S...	ORPHA:2745
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Narrow mouth, Oral mucosal blisters, Enamel hypoplasia, Anemia, Flexion contracture, Growth delay	OMIM:226600
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	High palate, Enamel hypoplasia, Retrognathia	OMIM:617915
Steatocystoma Multiplex	Natal tooth	OMIM:184500
Helsmoortel-Van Der Aa Syndrome	Small hand, Carious teeth, Ankyloglossia, Genu valgum, Everted lower lip vermilion, High, narrow ...	OMIM:615873
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Central hypothyroidism, Progressive hearing impairment, Decreased testi...	OMIM:616113
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Ankle flexion contracture, Micrognathia, Natal tooth	OMIM:617802
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Fa...	ORPHA:331206
Miller-Dieker Lissencephaly Syndrome	Joint contracture of the hand, Delayed eruption of teeth, Failure to thrive, Thick upper lip verm...	OMIM:247200
Microcephaly, Short Stature, And Limb Abnormalities	Patellar hypoplasia, 11 pairs of ribs, Intrauterine growth retardation, Patellar aplasia, Radioul...	OMIM:617604
Lipodystrophy, Congenital Generalized, Type 1	Acute pancreatitis, Clitoral hypertrophy, Labial hypertrophy, Hyperinsulinemia, Splenomegaly, Pol...	OMIM:608594
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Failure to thrive, Perianal abscess, B lymphocytopenia, T lymp...	OMIM:618108
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Intrauterine growth retardation, Splenomegaly, Tibial bowing, Lower limb undergrow...	ORPHA:3035
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Cone-shaped metacarpal epiphyses, Metaphyseal cupping, Dispropor...	OMIM:250220
Adamantinoma	Pathologic fracture, Bone pain	ORPHA:55881
Disabling Pansclerotic Morphea Of Childhood	Lymphopenia, Joint contracture, Oral ulcer, Neutropenia	OMIM:620443
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss, Increased susceptibility to fractures	ORPHA:216866
Cystic Fibrosis	Osteopenia, Decreased body mass index, Failure to thrive, Exocrine pancreatic insufficiency, Abno...	ORPHA:586
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Mandibular prognathia, Micromelia	ORPHA:2252
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level	OMIM:218030
Hypothyroidism, Congenital, Nongoitrous, 2	Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ...	OMIM:218700
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Kohlschutter-Tonz Syndrome	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:226750
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Slender build, Narrow mouth, Hepatic steatosis, Synovitis, Osteopenia, Hypoplastic i...	ORPHA:3455
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hypochromic anemia, Arachnodactyly, High palate, Short stature, Abnormality of neutrophils, Reduc...	ORPHA:2720
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Small scrotum, Joint contracture of the hand, Clitoral hypertrophy, Decreased circulating dehydro...	OMIM:201750
Amelogenesis Imperfecta, Type Ik	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:620104
46,Xy Complete Gonadal Dysgenesis	Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Hyperparathyroidism 1	Hypercalcemia, Primary hyperparathyroidism	OMIM:145000
Dyssegmental Dysplasia, Silverman-Handmaker Type	Severe short stature, Wide nasal bridge, Disproportionate short-limb short stature, Micromelia, M...	OMIM:224410
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Splenomegaly, Short ribs, Median cleft upper lip, Hypodontia, Postaxial polydactyly, Short clavic...	OMIM:617088
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Broad thumb, Joint hypermobility, Brachydactyly, Mandibular prognathia, Mesomelia	ORPHA:171866
Incontinentia Pigmenti	Conical tooth, Delayed eruption of teeth, Leukocytosis, Oligodontia, Hypodontia, Eosinophilia, Sh...	OMIM:308300
Restrictive Dermopathy	Osteopenia, Natal tooth, Camptodactyly of finger, Temporomandibular joint ankylosis, Intrauterine...	ORPHA:1662
Intellectual Developmental Disorder, Autosomal Dominant 54	Dental crowding, Widely spaced teeth, Delayed eruption of primary teeth, Neutropenia, Short statu...	OMIM:617799
Aminopterin/Methotrexate Embryofetopathy	Mesomelia, Wide nasal bridge, Finger syndactyly, Micromelia, Intrauterine growth retardation, Mic...	ORPHA:1908
Williams Syndrome	Synostosis of joints, Carious teeth, Open bite, Micrognathia, Genu valgum, Cryptorchidism, Type I...	ORPHA:904
Apert Syndrome	Bifid uvula, Hypoplasia of the maxilla, Toe syndactyly, Broad thumb, Delayed eruption of teeth, F...	ORPHA:87
Cerebrotendinous Xanthomatosis	Osteoporosis, Cholelithiasis, Abnormal circulating cholesterol concentration	OMIM:213700
Snijders Blok-Campeau Syndrome	Widely spaced teeth, Joint hypermobility, Taurodontia, Enamel hypoplasia, High palate	OMIM:618205
21Q22.11Q22.12 Microdeletion Syndrome	Acromesomelia, Dental crowding, Downturned corners of mouth, Clinodactyly, Thick lower lip vermil...	ORPHA:261323
Acute Bilirubin Encephalopathy	Prolonged neonatal jaundice, Abnormal auditory evoked potentials, Hemolytic anemia, Sensorineural...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Prolonged neonatal jaundice, Abnormal auditory evoked potentials, Hemolytic anemia, Sensorineural...	ORPHA:529808
Marfan Syndrome	High, narrow palate, Osteopenia, Dental crowding, Retrognathia, Open bite, Slender build, Microgn...	ORPHA:558
Ectodermal Dysplasia/Short Stature Syndrome	Short stature, Hypodontia, Enamel hypoplasia, Delayed eruption of teeth	OMIM:616029
Congenital Factor Vii Deficiency	Gingival bleeding, Joint hemorrhage, Ovarian cyst, Menorrhagia	ORPHA:327
Vipoma	Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating cortisol level, Increased ...	ORPHA:97282
Immunodeficiency, Common Variable, 6	Hepatomegaly, Abnormal T cell count, Autoimmune thrombocytopenia, Abnormal B cell count	OMIM:613496
Mandibulofacial Dysostosis With Alopecia	Hypoplasia of the maxilla, Dental crowding, Micrognathia, Delayed eruption of primary teeth, Ever...	OMIM:616367
Osteogenesis Imperfecta, Type Xv	Short stature, Recurrent fractures, Bowing of limbs due to multiple fractures, Joint hypermobility	OMIM:615220
Alg9-Cdg	Bifid uvula, Periportal fibrosis, Microretrognathia, Rhizomelia, Long philtrum, Flared metaphysis...	ORPHA:79328
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hyperparathyroidism, Hypercalcemia, Failure to thrive	OMIM:239199
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Osteopenia, Ectopic anterior pituitary gland, Hypopituitarism, Decre...	ORPHA:90695
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a...	ORPHA:3109
Microlissencephaly-Micromelia Syndrome	Abnormal circulating calcium-phosphate regulating hormone concentration, Failure to thrive, Micro...	ORPHA:50810
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Irregular menstruation, Mesomelia, Rhizomelia, Disproportionate short stature, Brain abscess, Hea...	OMIM:616482
Robinow Syndrome, Autosomal Dominant 3	Broad thumb, Clinodactyly, Micrognathia, Cryptorchidism, Short nose, Syndactyly, Cleft lip, Downt...	OMIM:616894
Hypothyroidism, Congenital, Nongoitrous, 5	Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Decrea...	OMIM:225250
Double Outlet Right Ventricle	Failure to thrive, Aplasia/Hypoplasia of the thymus, Narrow mouth, Hypocalcemia, Submucous cleft ...	ORPHA:3426
Microphthalmia, Syndromic 1	High, narrow palate, Tooth malposition, Joint contracture of the hand, Dental crowding, Clinodact...	OMIM:309800
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Micrognathia, Joint hypermobility, Arachnodactyly, Talipes equinovarus, Abnormality o...	ORPHA:536545
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Failure to thrive, Abnormal lymph node morphology, Decreased proportion of CD8-pos...	ORPHA:911
Lethal Congenital Contracture Syndrome 10	Narrow palate, Long philtrum, Stiff neck, Overlapping fingers, Micrognathia, Femoral bowing, Intr...	OMIM:617022
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Toe syndactyly, Broad thumb, Micrognathia, Cryptorchidism, Talipes equinovarus, Aplasia/hypoplasi...	OMIM:609945
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Charcot-Marie-Tooth Disease Type 1F	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle...	ORPHA:101085
Meckel Syndrome, Type 1	Postaxial foot polydactyly, Natal tooth, Clinodactyly, Micrognathia, Bowing of the long bones, Fo...	OMIM:249000
3Mc Syndrome 2	Caudal appendage, Downturned corners of mouth, Cleft upper lip, Postnatal growth retardation, Joi...	OMIM:265050
Ankyloglossia With Or Without Tooth Anomalies	Ankyloglossia, Supernumerary tooth	OMIM:106280
Cerebellar-Facial-Dental Syndrome	Severe short stature, Macrodontia of permanent maxillary central incisor, Infancy onset short-tru...	ORPHA:444072
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Disproportionate short-limb short stature, Metaphyseal spurs, Irregular epiphyses, Small epiphyse...	OMIM:608728
Idiopathic Trachyonychia	Patchy alopecia, Autoimmune thrombocytopenia, Nail dystrophy, Amyloidosis	ORPHA:79153
Icf Syndrome	Lymphopenia, Micrognathia, Protruding tongue, Anemia, Macroglossia, Abnormality of neutrophils, S...	ORPHA:2268
Geleophysic Dysplasia 3	Wide nasal bridge, Long philtrum, Limited elbow movement, Hepatomegaly, Limb undergrowth, Brachyd...	OMIM:617809
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Failure to thrive in infancy, Hepatosplenom...	OMIM:606367
Acrofrontofacionasal Dysostosis	Short distal phalanx of finger, Broad thumb, Micromelia, Camptodactyly of finger, Everted lower l...	ORPHA:1784
Spondylometaphyseal Dysplasia, Schmidt Type	Severe short stature, Abnormal ilium morphology, Irregular iliac crest, Short iliac bones, Abnorm...	ORPHA:93316
Ovarian Fibroma	Abnormality of the ovary, Ovarian fibroma, Gonadal calcification	ORPHA:314473
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Carious teeth, Cleft lip, Long philtrum, Elbow flexion contracture, P...	OMIM:117650
Immunodeficiency 23	Failure to thrive, Lymphopenia, Abscess, Joint hypermobility, Eosinophilia, Neutropenia, High pal...	OMIM:615816
Endocrine-Cerebroosteodysplasia	Natal tooth, Thick upper lip vermilion, Micrognathia, Fibular bowing, Cryptorchidism, Talipes equ...	OMIM:612651
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Dental crowding, Joint hypermobility, Arachnodactyly, Talipes equinovarus, Palmoplant...	OMIM:225400
Aromatase Deficiency	Ovarian cyst, Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Primary amenorrhea	OMIM:613546
Khan-Khan-Katsanis Syndrome	Clinodactyly, Failure to thrive, Lymphopenia, Intrauterine growth retardation, Micrognathia, Tent...	OMIM:618460
Parathyroid Carcinoma	Hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma	OMIM:608266
Hypoplasminogenemia	Periodontitis, Abnormality of the ovary, Gingival overgrowth, Decreased level of plasminogen, Abn...	ORPHA:722
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-3 toe cutaneous syndactyly, Conical tooth, Widely spaced teeth, Cutaneous finger syndactyly, 2-...	OMIM:613573
3P25.3 Microdeletion Syndrome	High, narrow palate, Broad thumb, Downturned corners of mouth, Broad hallux, Overlapping toe, Mic...	ORPHA:435638
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Pachyonychia Congenita	Natal tooth, Failure to thrive, Oral leukoplakia, Lower limb pain, Angular cheilitis, Advanced er...	ORPHA:2309
Coffin-Siris Syndrome	Short 5th finger, Growth delay, Delayed eruption of teeth, Clinodactyly, Thick lower lip vermilio...	ORPHA:1465
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Wide nasal bridge, Conical tooth, Widely spaced teeth, Micrognathia, Microdontia, Hypodontia, Sup...	ORPHA:90024
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	High, narrow palate, Osteopenia, Precocious puberty, Downturned corners of mouth, Long philtrum, ...	ORPHA:369837
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Wide nasal bridge, Abnormality of the palmar creases, Delayed eruption of permanent teeth, Congen...	ORPHA:521445
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Methemoglobinemia And Ambiguous Genitalia	Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased circulating dehydroepian...	OMIM:250790
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Hepatitis, Failure to thrive secondary to recurrent infections, Lymphopenia, Hepatosplenomegaly, ...	ORPHA:169160
Myopathy, Tubular Aggregate, 2	Ankle flexion contracture, Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Shaheen Syndrome	Carious teeth, Enamel hypoplasia	OMIM:615328
Thanatophoric Dysplasia	Disproportionate short-limb short stature, Micromelia, Joint stiffness, Intrauterine growth retar...	ORPHA:2655
Hydatidiform Mole	Anemia, Enlarged uterus, Hyperthyroidism, Menometrorrhagia	ORPHA:99927
Adnp Syndrome	Broad thumb, Sandal gap, Broad hallux, Thick lower lip vermilion, Joint hypermobility, Thin upper...	ORPHA:404448
Multiple Endocrine Neoplasia, Type Iib	High, narrow palate, Elevated circulating calcitonin concentration, Proximal femoral epiphysiolys...	OMIM:162300
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Failure ...	ORPHA:276
Acromesomelic Dysplasia 1	Acromesomelia, Disproportionate short-limb short stature, Radial bowing, Short toe, Flared metaph...	OMIM:602875
Schneckenbecken Dysplasia	Hypoplastic scapulae, Disproportionate short-limb short stature, Micromelia, Malar flattening, Cr...	ORPHA:3144
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all phalanges of fingers, Limb undergrowth, Shortening of all metacarpals, Bilatera...	OMIM:601356
Rhabdoid Tumor	Anemia, Weight loss, Hypercalcemia, Thrombocytopenia	ORPHA:69077
Lethal Acantholytic Erosive Disorder	Natal tooth, Intrauterine growth retardation, Camptodactyly of toe, 2-3 finger syndactyly, 4-5 fi...	ORPHA:158687
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Abnormal paranasal sinus morphology, Lymphopenia, Intestinal lymphangiectasia	OMIM:207731
Congenital Disorder Of Glycosylation, Type Ig	Small scrotum, Failure to thrive, Cryptorchidism, Hypocalcemia, Thin upper lip vermilion, Micrope...	OMIM:607143
Phocomelia, Schinzel Type	High, narrow palate, Finger aplasia, Disproportionate short stature, Radial bowing, Micromelia, A...	ORPHA:2879
Keppen-Lubinsky Syndrome	Failure to thrive, Postnatal growth retardation, Micrognathia, Open mouth, Increased susceptibili...	ORPHA:435628
Immunodeficiency 43	Reduced natural killer cell count, Radial bowing, Hypoplasia of the ulna, Lung abscess, B lymphoc...	OMIM:241600
Microcephalic Primordial Dwarfism, Dauber Type	Obesity, Madelung deformity, Severe postnatal growth retardation, Limb undergrowth, Bilateral bre...	ORPHA:319675
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Absent circulating B cells, Decreased proportion of class-switched memory B cells, Neutropenia, B...	OMIM:619705
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Non-Functioning Paraganglioma	Weight loss, Paraganglioma of head and neck, Hypercalcemia, Paraganglioma, Episodic hyperhidrosis	ORPHA:94080
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Clinodactyly, Micrognathia, Narrow mouth, Genu varum, Hypoplastic ilia, Downturned c...	OMIM:264090
Monosomy 9Q22.3	Delayed eruption of teeth, Long philtrum, Large for gestational age, Narrow mouth, Joint hypermob...	ORPHA:77301
Dyschondrosteosis-Nephritis Syndrome	Aplasia/Hypoplasia of the radius, Radial bowing, Micromelia, Intrauterine growth retardation, Mes...	ORPHA:1765
Sting-Associated Vasculopathy, Infantile-Onset	Failure to thrive, Lymphopenia, Leukopenia, Joint stiffness, Follicular hyperplasia, Thrombocytos...	OMIM:615934
Q Fever	Elevated circulating hepatic transaminase concentration, Granuloma, Hepatitis, Osteomyelitis, Hep...	ORPHA:781
Noonan Syndrome 14	High, narrow palate, Clinodactyly, Long philtrum, Lymphopenia, Limited elbow extension, Thick ver...	OMIM:619745
Hereditary Sensory And Autonomic Neuropathy Type 1	Pathologic fracture, Osteomyelitis, Limb pain	ORPHA:36386
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia, Generalized hirsutism, Hypothyroidism, Hypohidrosis, Hypoparathyroidism	ORPHA:1563
Leukodystrophy, Hypomyelinating, 5	Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct...	OMIM:610532
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Finger syndactyly, Abnormal mesentery morphology, Aplasia of the proximal phalanges of the hand, ...	ORPHA:2256
Ring Chromosome 10 Syndrome	Long philtrum, Micrognathia, Hypocalcemia, Cachexia, Thin vermilion border	ORPHA:1438
Immunodeficiency 110 With Lymphoproliferation	Lymphopenia, Recurrent aphthous stomatitis, Autoimmune hemolytic anemia, Recurrent sinusitis, Neu...	OMIM:614868
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Limb joint contracture, Enamel hypoplasia, Abnormality of dental color	ORPHA:251393
Hypercalcemia, Infantile, 1	Decreased circulating parathyroid hormone level, Weight loss, Hypercalcemia, Failure to thrive	OMIM:143880
Congenital Varicella Syndrome	Intrauterine growth retardation, Micromelia	ORPHA:291
Microphthalmia With Limb Anomalies	Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, P...	ORPHA:1106
Cousin Syndrome	Mesomelia, Joint contracture of the hand, Microglossia, Hypoplastic scapulae, Rhizomelia, Disprop...	OMIM:260660
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognathia, Hyperbilir...	OMIM:210710
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo...	OMIM:616221
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypopituitarism, Anterior pituitar...	ORPHA:95494
Yunis-Varon Syndrome	Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge, Postnatal growth ret...	ORPHA:3472
Somatostatinoma	Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr...	ORPHA:97283
Williams-Beuren Syndrome	Open mouth, Radioulnar synostosis, Short nose, Osteopenia, Failure to thrive in infancy, Obesity,...	OMIM:194050
Galloway-Mowat Syndrome 8	Enamel hypoplasia	OMIM:618349
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Low-set ears, Small scrotum, Radial bowing, Long ear, Aplasia/Hypoplasia of the pubic bone, Fibul...	OMIM:276820
Thanatophoric Dysplasia Type 2	Limitation of joint mobility, Micromelia, Joint hypermobility, Brachydactyly, Short stature, Abno...	ORPHA:93274
Cerebellofaciodental Syndrome	Macrodontia of permanent maxillary central incisor, Dental malocclusion, Proximal femoral epiphys...	OMIM:616202
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i...	OMIM:201810
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Genu valgum, Disproportionate short-trunk short stature, Metaphyseal dyspla...	ORPHA:239
Sarcoidosis	Hepatic failure, Decreased liver function, Parotitis, Abnormal lymph node morphology, Leukopenia,...	ORPHA:797
Multiple Endocrine Neoplasia Type 2	Thyroid C cell hyperplasia, Paraganglioma of head and neck, Elevated circulating calcitonin conce...	ORPHA:653
Fibrochondrogenesis 1	Hypoplastic ischia, Joint contracture of the hand, Hypoplastic scapulae, Small hand, Rhizomelia, ...	OMIM:228520
Lymphangiectasia, Intestinal	Lymphopenia, Intestinal lymphangiectasia	OMIM:152800
Glucagonoma	Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr...	ORPHA:97280
Adult Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Upper limb muscle weakness, Lower lim...	ORPHA:206448
Thyroid Ectopia	Elevated circulating thyroid-stimulating hormone concentration, Abnormality of the thyroid gland,...	ORPHA:95712
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Supernumerary nipple, Mesomelic leg shortening, Fibular aplasia, Limi...	OMIM:605274
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De...	OMIM:202010
Fructose Intolerance, Hereditary	Failure to thrive, Hyperbilirubinemia, Hepatic steatosis, Hyperuricemia, Hypophosphatemia, Cirrho...	OMIM:229600
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Abnormal T cell count, Delayed skeletal maturation, Absent circulating B cells, Delayed puberty, ...	OMIM:307200
Cockayne Syndrome	Severe short stature, Carious teeth, Congenital contracture, Contractures of the large joints, De...	ORPHA:191
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Carious teeth, Natal tooth, Clinodactyly, Ankyloglossia, Micrognathia, Prolonged neonatal jaundic...	OMIM:620186
Genetic Recurrent Myoglobinuria	Proximal muscle weakness in upper limbs, Hyperphosphatemia, Hypocalcemia, Hyperkalemia, Highly el...	ORPHA:99845
Purine Nucleoside Phosphorylase Deficiency	Failure to thrive, Lymphopenia, Lymph node hypoplasia, Autoimmune hemolytic anemia, Splenomegaly,...	OMIM:613179
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Decreased circulating renin level	OMIM:613677
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Crypto...	ORPHA:93322
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, Oral leukoplakia, Pancytopenia, I...	OMIM:620133
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Fibrochondrogenesis 2	Hypoplastic ilia, Metaphyseal cupping, Micrognathia, Malar flattening, Hypoplastic pubic bone, Sh...	OMIM:614524
Kyphomelic Dysplasia	Disproportionate short stature, Limitation of joint mobility, Radial bowing, Cleft upper lip, Mic...	OMIM:211350
Severe Congenital Nemaline Myopathy	Flexion contracture, Arthrogryposis multiplex congenita, Adducted thumb, Multiple prenatal fractures	ORPHA:171430
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Arthritis, Hepatomegaly,...	OMIM:616100
Adult-Onset Autosomal Dominant Leukodystrophy	Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl...	ORPHA:99027
Pediatric Systemic Lupus Erythematosus	Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Oral ulcer, Lymphadenopathy, Arthriti...	ORPHA:93552
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micrognathia, Genu varum, Short nose, Abnorma...	ORPHA:2753
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Highly arched eyebrow, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, ...	ORPHA:572333
Microphthalmia, Syndromic 9	Severe short stature, Multilobulated spleen, Intrauterine growth retardation, Micrognathia, Short...	OMIM:601186
Rapp-Hodgkin Syndrome	2-3 toe cutaneous syndactyly, Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Conical toot...	OMIM:129400
Hypothyroidism, Congenital, Nongoitrous, 9	Central hypothyroidism, Thyroid hypoplasia, Inappropriately normal thyroid-stimulating hormone le...	OMIM:301035
Dpagt1-Cdg	Clinodactyly, Failure to thrive, Arachnodactyly, Hepatomegaly, Anemia, Camptodactyly, Osteoporosi...	ORPHA:86309
Generalized Pustular Psoriasis	Elevated circulating hepatic transaminase concentration, Lymphopenia, Obesity, Leukocytosis, Arth...	ORPHA:247353
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Elevated circulating thyroid-stimulating hormone concentration, Hypomagnesemia, ...	OMIM:618183
Developmental And Epileptic Encephalopathy 89	Wide nasal bridge, Microretrognathia, Long philtrum, Thin upper lip vermilion, Smooth philtrum, T...	OMIM:619124
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Abnormal T cell count, Hepatic hemophagocytosis, Abnormal B cell count, Autoimmune hemolytic anem...	OMIM:620430
Vici Syndrome	Everted upper lip vermilion, Long philtrum, Cleft upper lip, Failure to thrive, Lymphopenia, Leuk...	OMIM:242840
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Micromelia, Polysplenia, Pancreatic fibrosis, Postaxial hand polydactyly, Hepat...	OMIM:200995
Blue Rubber Bleb Nevus	Pathologic fracture, Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Mosaic Trisomy 9	Limitation of joint mobility, Micromelia, Finger clinodactyly, Camptodactyly of finger, Elbow dis...	ORPHA:99776
Nijmegen Breakage Syndrome	Sandal gap, Cleft upper lip, Malar prominence, Intrauterine growth retardation, Micrognathia, Aut...	OMIM:251260
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Clinodactyly of the 5th finger	ORPHA:1116
Aneurysm-Osteoarthritis Syndrome	Bifid uvula, Dental malocclusion, Retrognathia, Camptodactyly of finger, Malar flattening, Joint ...	ORPHA:284984
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Fusariosis	Granuloma, Brain abscess, Abnormality of the spleen, Lymphopenia, Osteomyelitis, Abnormality of t...	ORPHA:228119
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Precocious puberty, Osteopenia, Decreased circulating iron concentration, Retrognathia, Increased...	ORPHA:438213
Familial Mediterranean Fever	Acute hepatic failure, Leukocytosis, Splenomegaly, Amyloidosis, Orchitis, Peritonitis, Pancreatit...	ORPHA:342
Pituitary Dermoid And Epidermoid Cysts	Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism...	ORPHA:91351
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Failure to thrive, Parotitis, Cholestasis, Elevated circulating aspartate amino...	OMIM:620376
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Sandal gap, Widely spaced toes, Clinodactyly of the 5th finger, Tapered distal phala...	OMIM:609638
Immunodeficiency 67	Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Septic arthritis, Abnormal n...	OMIM:607676
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Arthrogryposis multiplex congenita, Hepatosplenomegaly, Micrognathia, Cleft soft palate, Narrow m...	OMIM:619503
Mesomelia-Synostoses Syndrome	Mesomelia, Tarsometatarsal synostosis, Microretrognathia, Micromelia, Progressive forearm bowing,...	OMIM:600383
Timothy Syndrome	Thin upper lip vermilion, Hypothyroidism, Hypocalcemia, Microdontia	OMIM:601005
Zollinger-Ellison Syndrome	Hyperparathyroidism, Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pi...	ORPHA:913
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Oral leukoplak...	OMIM:619767
Hydrolethalus	Bifid uvula, Gingival cleft, Unilateral cleft lip, Retrognathia, Micromelia, Micrognathia, Crypto...	ORPHA:2189
Cornelia De Lange Syndrome	Small hand, Toe syndactyly, Micrognathia, Radioulnar synostosis, High palate, Short foot, Hip dis...	ORPHA:199
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Lymphopenia...	OMIM:615688
Grfoma	Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In...	ORPHA:97261
Amelogenesis Imperfecta, Type Iv	Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia	OMIM:104510
Ppoma	Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In...	ORPHA:97278
Familial Multiple Lipomatosis	Bowing of the long bones, Premature eruption of permanent teeth, Odontogenic keratocysts of the j...	ORPHA:199276
Apc-Related Attenuated Familial Adenomatous Polyposis	Adrenocortical adenoma, Adrenocortical carcinoma, Odontoma, Thyroid nodule, Papillary thyroid car...	ORPHA:247806
Loeys-Dietz Syndrome 2	Bifid uvula, Joint contracture of the hand, Retrognathia, Micrognathia, Malar flattening, Absent ...	OMIM:610168
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal cupping, Flat glenoid fossa, Irregular iliac crest, Disproportionate short-limb short...	OMIM:250420
Mesomelic Dysplasia, Savarirayan Type	Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Metatarsus valgus, Flared radi...	ORPHA:85170
Fanconi Anemia, Complementation Group L	Low-set ears, Bone marrow hypocellularity, Absent thumb, Anotia, Intrauterine growth retardation,...	OMIM:614083
Bartsocas-Papas Syndrome 1	Hypoplastic scapulae, Micrognathia, Talipes equinovarus, Absent radius, Short metacarpal, Short n...	OMIM:263650
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Flared metaphysis, Lethal short-limbed short statur...	OMIM:187601
Cutis Marmorata Telangiectatica Congenita	Toe syndactyly, Finger syndactyly, Intrauterine growth retardation, Micrognathia, Orofacial cleft...	ORPHA:1556
Glycogen Storage Disease Due To Acid Maltase Deficiency	Macroglossia, Failure to thrive, Elevated circulating creatine kinase concentration, Hepatomegaly...	ORPHA:365
22Q11.2 Deletion Syndrome	Carious teeth, Micrognathia, Narrow mouth, Cryptorchidism, Hypoparathyroidism, Hypospadias, Chole...	ORPHA:567
Coffin-Siris Syndrome 1	Postnatal growth retardation, Aplasia/Hypoplasia of the patella, Dislocated radial head, High pal...	OMIM:135900
Otopalatodigital Syndrome, Type Ii	Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Postnatal growth retardation, Ove...	OMIM:304120
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Alport Syndrome 3A, Autosomal Dominant	Hypophosphatemia, Azotemia	OMIM:104200
Hydrolethalus Syndrome 1	Accessory spleen, Low-set ears, Abnormal vagina morphology, Preaxial hand polydactyly, Upper limb...	OMIM:236680
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Focal Dermal Hypoplasia	Toe syndactyly, Foot polydactyly, Short metacarpal, Oligodontia, Hypodontia, Brachydactyly, Posta...	OMIM:305600
Alström Syndrome	Testicular fibrosis, Frontal balding, Decreased circulating T4 concentration, Hepatosplenomegaly,...	ORPHA:64
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Tooth malposition, Long hallux, Genu valgum, Open mouth, Arachnodactyly, Syndactyly, Delayed skel...	ORPHA:261537
Gitelman Syndrome	Hypermagnesemia, Type I diabetes mellitus, Polydipsia, Graves disease, Failure to thrive, Hypomag...	ORPHA:358
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Overlapping toe, Micrognathia, Cryptorchidism, Hepatic steatosis, Cir...	OMIM:270400
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2	Short stature, Recurrent fractures, Joint hypermobility	OMIM:619120
Agammaglobulinemia, X-Linked	Septic arthritis, Lymph node hypoplasia, Recurrent sinusitis, Neutropenia, B lymphocytopenia, Ane...	OMIM:300755
17Q11 Microdeletion Syndrome	Precocious puberty, Osteopenia, Elevated circulating parathyroid hormone level, Abnormality of th...	ORPHA:97685
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Micromelia, Orofacial cleft, Femoral retroversion, Short stature, Macroglossia	ORPHA:79107
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	High, narrow palate, Delayed eruption of teeth, Failure to thrive, Thick lower lip vermilion, Abn...	ORPHA:369950
Chromosome 14Q11-Q22 Deletion Syndrome	Wide nasal bridge, Failure to thrive, Long philtrum, Elevated circulating thyroid-stimulating hor...	OMIM:613457
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia	OMIM:616270
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Intestinal lymphangiectasia, Lymphopenia, Abnormal lymphatic vessel morpholo...	ORPHA:90362
Multiple Endocrine Neoplasia, Type I	Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel...	OMIM:131100
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Ankle flexion contracture, Knee flexion contracture, Hip contracture, Generalized lymphadenopathy...	OMIM:620232
Digeorge Syndrome	Micrognathia, Ovarian cyst, High palate, High, narrow palate, Cholelithiasis, Parathyroid hypopla...	OMIM:188400
Hemorrhagic Fever-Renal Syndrome	Hyperphosphatemia, Elevated circulating creatinine concentration, Leukocytosis, Decreased body we...	ORPHA:340
Orofaciodigital Syndrome Type 14	Microretrognathia, Postaxial foot polydactyly, Broad hallux, Bilateral cryptorchidism, Hamartoma ...	ORPHA:434179
Barber-Say Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Dental malocclusion, Velopharyngeal insufficien...	OMIM:209885
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Chronic sinusitis, Hypoplastic spleen, Polysplenia	OMIM:620642
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	High, narrow palate, Delayed eruption of teeth, Macrodontia, Taurodontia, Short philtrum	ORPHA:3214
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Conical incisor, Carious teeth, Enamel hypoplasia	OMIM:614564
Odontomicronychial Dysplasia	Abnormality of the dentition, Premature eruption of permanent teeth, Carious teeth, Premature los...	ORPHA:1811
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Micromelia, Long philtrum, Short ribs, Postaxial polydactyly, Brachydactyly, Hypoplasia of the ra...	OMIM:617895
Orofaciodigital Syndrome Xiv	Cleft lip, Natal tooth, Microretrognathia, Broad hallux, Preaxial polydactyly, Hamartoma of tongu...	OMIM:615948
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Hepatosplen...	OMIM:242700
Gm1 Gangliosidosis Type 1	Long philtrum, Hepatosplenomegaly, Gingival overgrowth, Broad long bone diaphyses, Acetabular dys...	ORPHA:79255
Thanatophoric Dysplasia Type 1	Micromelia, Lethal short-limbed short stature, Joint stiffness, Femoral bowing, Bowing of the lon...	ORPHA:1860
Ectopic Aldosterone-Producing Tumor	Hypokalemia, Decreased circulating renin level	ORPHA:231632
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Sparse lateral eyebrow, Abnormal female external genitalia morphology, Aplasia of t...	OMIM:277000
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Cryptorchidism, Oligozoospermia, Torticollis	OMIM:314300
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Hypocalcemia, Aplasia of the uterus, Va...	ORPHA:2237
Sporadic Pheochromocytoma/Secreting Paraganglioma	Weight loss, Adrenal pheochromocytoma, Paraganglioma, Paraganglioma of head and neck, Hypercalcem...	ORPHA:276621
Branchiootorenal Syndrome 1	Bifid uvula, Euthyroid goiter, Increased overbite, Microdontia, High palate, Cleft palate	OMIM:113650
Bent Bone Dysplasia Syndrome 2	Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, In...	OMIM:620076
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Neuropathy, Hereditary Sensory And Autonomic, Type V	Painless fractures due to injury, Osteomyelitis, Osteoarthritis, Septic arthritis, Recurrent frac...	OMIM:608654
Thyroid Hypoplasia	Growth delay, Jaundice, Hypothyroidism, Short stature, Macroglossia, Thyroid hypoplasia	ORPHA:95720
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Delayed eruption of teeth, Finger syndactyly, Widely spaced teeth, Abnormal dental...	ORPHA:1071
Schisis Association	Micromelia, Small for gestational age, Unilateral cleft lip, Cleft palate	ORPHA:63862
Pallister-Hall Syndrome	Toe syndactyly, Natal tooth, Broad thumb, Radial bowing, Polydactyly affecting the 4th finger, Hy...	ORPHA:672
Bartter Syndrome, Type 1, Antenatal	Hyperparathyroidism, Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Small for ge...	OMIM:601678
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Aplasia/Hypoplasia involving the shoulder musculature, Sparse eyebrow, Supernumerary nipple, Dias...	ORPHA:1521
Carney Complex, Type 1	Palatine myxoma, Pituitary adenoma, Pheochromocytoma, Thyroid carcinoma, Thyroid follicular hyper...	OMIM:160980
Ataxia-Telangiectasia	Failure to thrive, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B c...	OMIM:208900
Craniopharyngioma	Postnatal growth retardation, Obesity, Increased susceptibility to fractures, Proportionate short...	ORPHA:54595
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Bifid uvula, Abnormality of the dentition, Failure to thrive, Enamel hypoplasia, Short stature, W...	OMIM:615802
Interstitial Cystitis	Abnormal vagina morphology, Abnormality of the menstrual cycle, Abnormal labia morphology, Dyspar...	ORPHA:37202
Fibrochondrogenesis	Hypoplastic scapulae, Micromelia, Abnormal diaphysis morphology, Camptodactyly of finger, Narrow ...	ORPHA:2021
Myhre Syndrome	Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Overlapping toe, Narrow mouth...	OMIM:139210
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis	OMIM:156232
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Lymphopenia, Overlapping fingers, Micrognathia, Knee flexion contracture, Absent uvula	OMIM:619708
Meckel Syndrome 14	Low-set ears, Hepatic fibrosis, Postaxial foot polydactyly, Decreased calvarial ossification, Bow...	OMIM:619879
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Tooth malposition, Long hallux, Genu valgum, Open mouth, Arachnodactyly, Patent ductus arteriosus...	ORPHA:261552
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Micrognathia, Renal artery stenosis, Splenomegaly, Hypocalcemia, Hypokalemia, Hyponat...	OMIM:617913
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Asplenia, Cholelithiasis, Enamel hypoplasia, Chronic active hepatitis	OMIM:240300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Optic atrophy, Polymicrogyria, Type II lissencephaly, Enlarged flash visual evoked potentials, EE...	OMIM:253280
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Wide nasal bridge, Abnormality of primary teeth, Tented upper lip vermilion, Thin upper lip vermi...	ORPHA:438216
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Interrupted aortic arch, Hyperbilirubinemia, Absent gallbladder, Cryptorchidism, Hypocalcemia, Th...	ORPHA:163979
Grange Syndrome	Finger clinodactyly, Increased susceptibility to fractures, Decreased body weight, Brachydactyly,...	OMIM:602531
Multiple Endocrine Neoplasia, Type Iia	Thyroid C cell hyperplasia, Hyperparathyroidism, Increased circulating cortisol level, Pheochromo...	OMIM:171400
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Frontal upsweep of hair, Cryptorchidism, Rectovaginal fistula, Hypospadias,...	OMIM:243800
Sotos Syndrome	Ankle flexion contracture, Abnormality of the dentition, Agenesis of permanent teeth, Hip contrac...	ORPHA:821
Charge Syndrome	Lymphopenia, Micrognathia, Cryptorchidism, Overriding aorta, Hypoparathyroidism, Dysphagia, Parat...	OMIM:214800
Hereditary Pheochromocytoma-Paraganglioma	Weight loss, Adrenal pheochromocytoma, Paraganglioma, Paraganglioma of head and neck, Elevated ci...	ORPHA:29072
Arboleda-Tham Syndrome	Enlarged proximal interphalangeal joints, Genu valgum, Narrow mouth, Short hallux, Genu varum, Do...	OMIM:616268
Leukodystrophy, Hypomyelinating, 13	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Failure to thrive, Joi...	OMIM:616881
Phace Association	Congenital hypothyroidism, Arterial stenosis, Lingual thyroid, Aortic aneurysm, Coarctation of aorta	OMIM:606519
Pheochromocytoma--Islet Cell Tumor Syndrome	Pheochromocytoma, Hypercalcemia, Hyperhidrosis	OMIM:171420
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Failure to thrive in infancy, Hypocalcemia	ORPHA:746
Dihydropyrimidine Dehydrogenase Deficiency	Epiphyseal dysplasia, Delayed eruption of teeth, Retrognathia, Open mouth, Deep philtrum, High pa...	ORPHA:1675
Loeys-Dietz Syndrome 3	Bifid uvula, Osteopenia, Hip osteoarthritis, Dental malocclusion, Retrognathia, Malar flattening,...	OMIM:613795
Poland Syndrome	Acute leukemia, Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Cryptorchidism,...	ORPHA:2911
Roberts-Sc Phocomelia Syndrome	Clinodactyly, Hyperplasia of the maxilla, Postnatal growth retardation, Micrognathia, Abnormal me...	OMIM:268300
Pmm2-Cdg	Increased circulating prolactin concentration, Hyperinsulinemia, Aplasia of the ovary, Impaired n...	ORPHA:79318
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Macroglossia, Abnormal femoral torsion, Tibial torsion, Long hallux, Large for gestational age, T...	ORPHA:500095
Mowat-Wilson Syndrome	Tooth malposition, Genu valgum, Open mouth, Decreased body weight, Everted lower lip vermilion, P...	ORPHA:2152
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Cowden Syndrome 7	Ductal carcinoma in situ, Hashimoto thyroiditis, Papillary thyroid carcinoma, Goiter	OMIM:616858
Agammaglobulinemia 1, Autosomal Recessive	Failure to thrive, Recurrent sinusitis, B lymphocytopenia, Neutropenia, Rectal abscess	OMIM:601495
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Enamel hypoplasia, Arthrogryposis multiplex congenita, Oral mucosal blisters	OMIM:226730
Floating-Harbor Syndrome	Carious teeth, Clinodactyly, Broad fingertip, Dislocated radial head, Short metacarpal, Hypoplasi...	ORPHA:2044
Heimler Syndrome 1	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:234580
Radio-Renal Syndrome	High, narrow palate, Severe short stature, Downturned corners of mouth, Retrognathia, Micromelia,...	ORPHA:3015
Craniofacioskeletal Syndrome	Interrupted aortic arch, Hypospadias, Micrognathia, Absent gallbladder, Cryptorchidism, Hypocalce...	OMIM:300712
Tetrasomy 9P	Hypoplastic scapulae, Small hand, Abnormal earlobe morphology, Infertility, Intrauterine growth r...	ORPHA:3310
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Septic arthritis, Elevated circulating creatinine concentration, Osteomyelitis, ...	ORPHA:36234
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Intrauterine growth retardation, Postnatal growth retar...	OMIM:617827
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto...	OMIM:616084
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Oral ulcer, Perianal a...	OMIM:301074
Limb-Mammary Syndrome	Alopecia, Absent nipple, Toe syndactyly, Sparse eyebrow, Breast aplasia, Oligodactyly, Aplasia of...	ORPHA:69085
Immunodeficiency 87 And Autoimmunity	Hepatic failure, Growth delay, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Cervical lympha...	OMIM:619573
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Decreased circulating renin level	ORPHA:231580
Thoracic Dysplasia-Hydrocephalus Syndrome	Short stature, Limb undergrowth, Abnormal metaphysis morphology	ORPHA:1861
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Short philtrum, Natal tooth, Cleft palate	OMIM:617337
Barber-Say Syndrome	Wide mouth, Delayed eruption of teeth, Failure to thrive	ORPHA:1231
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypospadias, Hypoplasia of the premaxilla, Micrognathia, Narrow mouth, Cryptorchidism, Orofacial ...	ORPHA:2166
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Absent natural killer cells, Failure to thrive in infancy, Lymphopenia, Hepatosplenomegaly, Impai...	ORPHA:35078
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased proportion of CD3...	ORPHA:760
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Hypermagnesemia, Pancreatitis, Parathyroid adenoma, Hypercalcemia	OMIM:145980
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Long philtrum, Thick lower lip vermilion, Narrow mouth, Aggressive behavior, Mesiodens, Abnormal ...	ORPHA:314647
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Carious teeth, Enamel hypoplasia	OMIM:612843
Agammaglobulinemia 9, Autosomal Recessive	Absent circulating B cells, Failure to thrive, Thrombocytopenia	OMIM:619693
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Developmental And Epileptic Encephalopathy 100	Small hand, Elbow flexion contracture, Micrognathia, Gingival overgrowth, Protruding tongue, Tent...	OMIM:619777
Cockayne Syndrome Type 3	Carious teeth, Elevated circulating hepatic transaminase concentration, Mild postnatal growth ret...	ORPHA:90324
Exudative Vitreoretinopathy 1	Recurrent fractures	OMIM:133780
C Syndrome	Toe syndactyly, Limitation of joint mobility, Micromelia, Long philtrum, Dislocated radial head, ...	ORPHA:1308
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Short thumb, Widely spaced teeth, Partial duplication of thumb phalanx, Enamel hyp...	OMIM:620193
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Pancreatitis, Hypercalcemia, Primary hyperparathyroidism	OMIM:145981
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Cleft upper lip, Preaxial polydactyly, Hamartoma of ton...	OMIM:613091
Pachyonychia Congenita 2	Angular cheilitis, Natal tooth, Oral leukoplakia	OMIM:167210
Becker Nevus Syndrome	Abnormal tibia morphology, Micromelia, Upper limb asymmetry, Supernumerary nipple	ORPHA:64755
Liver Disease, Severe Congenital	Dry hair, Micrognathia, Hyperbilirubinemia, Hypoproteinemia, Hypospadias, Hypocalcemia, Elevated ...	OMIM:619991
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility	ORPHA:48
Ehlers-Danlos Syndrome, Vascular Type	Foot acroosteolysis, Hypermobility of interphalangeal joints, Uterine rupture, Cystocele, Metacar...	OMIM:130050
Aa Amyloidosis	Renal amyloidosis, Cholestasis, Adrenal insufficiency, Amyloidosis, Hypothyroidism, Hepatomegaly	ORPHA:85445
Amyloidosis, Hereditary Systemic 1	Hearing impairment, Amyloidosis, Sensorineural hearing impairment, Orthostatic hypotension due to...	OMIM:105210
Brittle Cornea Syndrome 2	Recurrent fractures, Joint hypermobility	OMIM:614170
Xfe Progeroid Syndrome	Severe short stature, Elevated circulating hepatic transaminase concentration, Failure to thrive,...	OMIM:610965
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Disproportionate short-limb short stature, Short femoral neck, Flared metaphysis, Short palm, Apl...	ORPHA:2502
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border	OMIM:620114
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level	ORPHA:320
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Ovarian cyst, Hirsutism, Enlarged polycystic ovaries, Increased serum t...	ORPHA:64739
Nivelon-Nivelon-Mabille Syndrome	Severe short stature, Micromelia, Elevated circulating creatine kinase concentration, Brachydacty...	OMIM:600092
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Severe short stature, Abnormal epiphysis morpholog...	ORPHA:85167
Igg4-Related Dacryoadenitis And Sialadenitis	Xerostomia, Abnormal salivary gland morphology, Abnormality of the submandibular glands, Enlargem...	ORPHA:79078
Ulbright-Hodes Syndrome	Postnatal growth retardation, Fibular aplasia, Micrognathia, Narrow mouth, Humeroradial synostosi...	ORPHA:3404
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Obesity, Hyperammonemia, Hypocalcemia, Elevated circ...	ORPHA:26793
Ramon Syndrome	Delayed eruption of teeth, Decreased body weight, Juvenile rheumatoid arthritis, Narrow palate, G...	OMIM:266270
Syndromic Diarrhea	Hepatic fibrosis, Lymphopenia, Abnormality of the liver, Intrauterine growth retardation, Splenom...	ORPHA:84064
Renal And Mullerian Duct Hypoplasia	Severe postnatal growth retardation, Aplasia of the uterus, Anteriorly displaced urethral meatus,...	OMIM:266810
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Disproportionate short-limb short stature, Abnormal pelvis bone ossification, Cleft upper lip, Lo...	ORPHA:93271
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Decreased circulating renin level	ORPHA:231625
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Alopecia of scalp, Nail dystrophy, Multinodular goiter, Premature loss of teeth	OMIM:618373
Whim Syndrome	Lymphadenitis, Parotitis, Abnormal neutrophil morphology, Lymphopenia, Neutropenia, Sinusitis, Se...	ORPHA:51636
46,Xx Sex Reversal 5	Increased serum testosterone level, Ambiguous genitalia, Urogenital sinus anomaly	OMIM:618901
Autosomal Recessive Spastic Paraplegia Type 77	Macrodontia of permanent maxillary central incisor, Retrognathia, Bilateral cryptorchidism	ORPHA:466722
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent natural killer cells, Failure to thrive, Lymphopenia, Absent peripheral lymph nodes in pre...	OMIM:600802
Familial Multinodular Goiter	Sertoli cell neoplasm, Thyroid carcinoma, Multinodular goiter, Testicular seminoma, Ovarian neoplasm	ORPHA:276399
Lacrimoauriculodentodigital Syndrome	Carious teeth, Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Patent ductus arter...	ORPHA:2363
Cardiac-Urogenital Syndrome	Accessory spleen, Tracheomalacia, Bifid scrotum, Cryptorchidism, Congenital diaphragmatic hernia,...	OMIM:618280
Lacrimoauriculodentodigital Syndrome 1	Bilateral triphalangeal thumbs, Carious teeth, Lacrimal gland hypoplasia, Delayed eruption of pri...	OMIM:149730
Odontoonychodermal Dysplasia	Smooth tongue, Widely spaced primary teeth, Agenesis of permanent teeth, Abnormality of primary t...	OMIM:257980
Chromosome 17Q12 Deletion Syndrome	Highly arched eyebrow, Sparse eyebrow, Elevated circulating hepatic transaminase concentration, U...	OMIM:614527
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Failure to thrive, Delayed eruption of primary teeth	OMIM:300952
Exercise-Induced Malignant Hyperthermia	Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop...	ORPHA:466650
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Generalized Arterial Calcification Of Infancy	Osteomalacia, Failure to thrive in infancy, Abnormal hip joint morphology, Hypophosphatemic ricke...	ORPHA:51608
Palmoplantar Carcinoma, Multiple Self-Healing	Finger joint hypermobility, Amyloidosis, Nail dystrophy, Cutaneous macular amyloidosis	OMIM:615225
Pheochromocytoma	Pheochromocytoma, Renal artery stenosis, Hypercalcemia, Hyperhidrosis	OMIM:171300
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Long philtrum, Short toe, Advanced eruption of teeth, Orofacial cleft, Everted...	ORPHA:1519
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Neu-Laxova Syndrome 1	Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Cleft upper lip, Thick lower li...	OMIM:256520
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Disproportionate short-limb short stature, Long philtrum, Widely spaced teeth, Short lingual fren...	OMIM:619479
Periodic Fever, Familial, Autosomal Dominant	Hepatic amyloidosis, Cervical lymphadenopathy, AA amyloidosis, Myositis, Oligoarthritis, Hepatome...	OMIM:142680
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Lymphopeni...	ORPHA:1572
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Notched primary central incisor, Cleft lip, Palmoplantar keratoderma, Failure to thrive	OMIM:620519
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Cornelia De Lange Syndrome 6	Macrodontia of permanent maxillary central incisor, Cleft lip, Short 1st metacarpal, Long philtru...	OMIM:620568
Phace Syndrome	Coarctation of aorta, Hypothyroidism, Aortic root aneurysm, Ectopic thyroid	ORPHA:42775
Okamoto Syndrome	Low-set ears, Abnormal helix morphology, Facial hypertrichosis, Hypertrichosis, Extension of hair...	ORPHA:2729
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Cervix cancer, Micrognathia, Multinodular goiter	OMIM:620189
Glucose-Galactose Malabsorption	Weight loss, Hypercalcemia, Failure to thrive, Hypernatremia	ORPHA:35710
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Widely spaced teeth, Peg-shaped maxillary lateral incisors, Micrognathia, Microdontia	OMIM:610706
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypokalemia, Decreased circulating renin level	OMIM:615474
Myeloma, Multiple	Paraproteinemia, Amyloidosis	OMIM:254500
Townes-Brocks Syndrome 1	Broad thumb, Cryptorchidism, Pseudoepiphyses of second metacarpal, Sensorineural hearing impairme...	OMIM:107480
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Mesomelia, Polysyndactyly of hallux, Hepatic fibrosis, Microglossia, Postaxial polysyndactyly of ...	OMIM:263520
Proximal Renal Tubular Acidosis	Growth delay, Failure to thrive, Enamel hypomineralization, Mild postnatal growth retardation, Hy...	ORPHA:47159
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival overgrowth, Amelogenesis imperfecta, Gingival fibroma...	OMIM:204690
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Self-injurious behavior, Bifid uvula, Small scrotum, Fixated interests, Long philtrum, Malar flat...	OMIM:620330
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Hypercalcemia, Elevated creatine kinase after exercise	ORPHA:284426
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Uterus didelphys, Septate vagina, Pseudopapilledema, Aplasia of the vagina, Sensorineural hearing...	OMIM:146255
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise	ORPHA:423
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Abnormal hair whorl, Broad hallux, Aplasia of the vagina, Agenesis of corpus callosum, Postaxial ...	ORPHA:457284
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Gingival bleeding, Decreased proportion of CD8-positive T cells, ...	OMIM:301000
Pallister-Killian Syndrome	Small hand, Postaxial foot polydactyly, Micrognathia, Everted lower lip vermilion, Short foot, Hi...	OMIM:601803
Enamel-Renal Syndrome	Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho...	ORPHA:1031
Peters Plus Syndrome	Toe syndactyly, Postnatal growth retardation, Micrognathia, Cryptorchidism, Short foot, Short nos...	ORPHA:709
Amyloidosis, Primary Localized Cutaneous, 2	Cutaneous amyloidosis	OMIM:613955
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic fibrosis, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, Hepatic failure, ...	OMIM:620454
Primary Sjögren Syndrome	Normocytic anemia, Biliary cirrhosis, Parotitis, Chronic active hepatitis, Lymphopenia, Leukopeni...	ORPHA:289390
Spondylometaphyseal Dysplasia, Algerian Type	Severe short stature, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femo...	OMIM:184253
Genitopatellar Syndrome	Congenital hip dislocation, Delayed eruption of teeth, Inferior pubic ramus hypoplasia, Micrognat...	OMIM:606170
Infection-Related Hemolytic Uremic Syndrome	Brain abscess, Leukocytosis, Hypocalcemia, Hyponatremia, Pancreatitis, Thrombocytopenia, Septic a...	ORPHA:544482
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Failure to thrive, Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydactyly,...	OMIM:615503
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Failure to thrive in infancy, Frontal upsweep of hair, Cutaneous amyloidosis, Broad eyebrow, Hypo...	OMIM:301220
Autosomal Recessive Cutis Laxa Type 1	Pathologic fracture, Intrauterine growth retardation, Hip dislocation, Joint hypermobility	ORPHA:90349
Reynolds Syndrome	Biliary cirrhosis, Elevated circulating hepatic transaminase concentration, Cholestasis, Lymphope...	OMIM:613471
Amyloidosis, Primary Localized Cutaneous, 1	Cutaneous amyloidosis	OMIM:105250
Pili Torti, Early-Onset	Enamel hypoplasia	OMIM:261900
Cholera	Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia	ORPHA:173
Cerebral Amyloid Angiopathy, Cst3-Related	Generalized amyloid deposition	OMIM:105150
Tooth Agenesis, Selective, 4	Tooth agenesis, Peg-shaped maxillary lateral incisors, Agenesis of permanent teeth, Abnormality o...	OMIM:150400
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Amyloidosis	OMIM:204850
Amyloidosis, Cutaneous Bullous	Amyloidosis	OMIM:204900
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Block vertebrae, Failure to thrive, Abdominal situs inversus, Polyspl...	OMIM:306955
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Micromelia, Preaxial polydactyly, Hamartoma of tongue, Short ribs, Postaxial p...	OMIM:616546
Scalp-Ear-Nipple Syndrome	Abnormality of the dentition, Delayed eruption of teeth	ORPHA:2036
Aapoaiv Amyloidosis	Renal amyloidosis, Paraproteinemia, Cutaneous amyloidosis, Renal interstitial amyloid deposits, D...	ORPHA:439232
Ethylene Glycol Poisoning	Addictive alcohol use, Hyperkalemia, Hypocalcemia	ORPHA:31826
Fraser Syndrome	Wide nasal bridge, Toe syndactyly, Dental crowding, Dental malocclusion, Cleft upper lip, Finger ...	ORPHA:2052
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor, Aplasia of the eccrine sweat glands	OMIM:300291
Nk-Cell Enteropathy	Increased T cell count	ORPHA:263665
Norrie Disease	Optic atrophy, Abnormal helix morphology, Uterine rupture, Failure to thrive, Cryptorchidism, Sen...	ORPHA:649
Lumbar Syndrome	Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u...	ORPHA:83628
Oeis Complex	Congenital hip dislocation, Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguou...	OMIM:258040
Congenital Disorder Of Glycosylation, Type Iim	Intrauterine growth retardation, Thick vermilion border, Open mouth, Exaggerated cupid's bow, Fus...	OMIM:300896
Mowat-Wilson Syndrome	Tooth malposition, Delayed eruption of teeth, Widely spaced teeth, Submucous cleft hard palate, S...	OMIM:235730
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hyperaldosteronism, Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Pontocerebellar Hypoplasia Type 7	Optic atrophy, Clitoral hypertrophy, Skeletal muscle atrophy, Microphallus, Gonadal dysgenesis, C...	ORPHA:284339
Spinal Cord Injury	Hypercalcemia	ORPHA:90058
Junctional Epidermolysis Bullosa With Pyloric Atresia	Enamel hypoplasia, Oral mucosal blisters	ORPHA:79403
Townes-Brocks Syndrome 2	Cupped ear, Overfolded helix, Bifid uterus, Spina bifida occulta, Rectovaginal fistula, Hypospadi...	OMIM:617466
Amyloidosis, Finnish Type	Generalized amyloid deposition, Orthostatic hypotension, Renal glomerular amyloid deposition, Opt...	OMIM:105120
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:245660
Vascular Ehlers-Danlos Syndrome	Aplasia/Hypoplasia of the earlobes, Congenital hip dislocation, Alopecia, Uterine rupture, Cystoc...	ORPHA:286
Knobloch Syndrome 2	Micrognathia, Enamel hypoplasia, Patent ductus arteriosus	OMIM:618458
Loeys-Dietz Syndrome	Uterine rupture, Camptodactyly of finger, Joint hypermobility, Arachnodactyly, Craniosynostosis	ORPHA:60030
Exstrophy-Epispadias Complex	Penoscrotal transposition, Male sexual dysfunction, Female sexual dysfunction, Bifid scrotum, Cys...	ORPHA:322
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Block vertebrae, Absent external genitalia, Aplasia of the vagina, Aplasia of the uterus, Vertebr...	OMIM:271520
Cerebral Amyloid Angiopathy, Itm2B-Related, 2	Neurofibrillary tangles, Hearing impairment, Cerebral amyloid angiopathy	OMIM:117300
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Alzheimer Disease 4	Neurofibrillary tangles, Cerebral amyloid angiopathy	OMIM:606889
Acys Amyloidosis	Amyloidosis, Cerebral amyloid angiopathy	ORPHA:100008
Abeta Amyloidosis, Dutch Type	Cerebral amyloid angiopathy	ORPHA:100006
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Cerebral amyloid angiopathy	OMIM:176500
Cerebral Amyloid Angiopathy, App-Related	Cerebral amyloid angiopathy	OMIM:605714

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 Csf1

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 Csf1.

No publications found that use IMPC mice or data for Csf1.

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
Csf1^{tm44954(L1L2_st1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Csf1^{tm1a(KOMP)Wtsi}	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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