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Gene: Csf1 MGI:1339753

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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.

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 Similarity of
phenotypes		 Matching phenotypes Source
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... ORPHA:83451
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fract... OMIM:259710
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... ORPHA:1802
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Increased bone mineral density, Pancytopenia, Femur fracture, Osteomyelitis, Cranio... OMIM:259700
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... ORPHA:564003
Gnathodiaphyseal Dysplasia
Osteopenia, Broad jaw, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, T... ORPHA:53697
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia OMIM:615085
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Mandibular pain, Abnormal pelvic girdle bone morphology, Osteopetrosi... OMIM:607634
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Hepatomegaly, Recurrent fractures, Splenomegaly,... OMIM:611490
Pyle Disease
Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t... OMIM:265900
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Short stature, Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly... ORPHA:166277
Osteoglosphonic Dysplasia
Severe short stature, Failure to thrive in infancy, Rhizomelia, Craniosynostosis, Micrognathia, D... ORPHA:2645
Hyperostosis Corticalis Generalisata
Mandibular prognathia, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone m... ORPHA:3416
Eiken Syndrome
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... OMIM:600002
Intermediate Osteopetrosis
Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o... ORPHA:210110
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Reduce... OMIM:619795
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Torus palatinus, Cl... ORPHA:2790
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Dental enamel pits, Periapical tooth abscess, Enamel hypominerali... ORPHA:3352
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Increased bone mineral density, Short stature, Splenomegaly, Abnormal limb bone mor... ORPHA:2204
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Sclerosteosis
Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndacty... ORPHA:3152
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Osteomyelitis, Short stature, Recurrent fractures, Abnormality of ... ORPHA:53
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Short stature, Osteoporosis, Cone-shaped epiphysis, Short philtrum, De... ORPHA:71267
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Abnormal... OMIM:610967
Mazabraud Syndrome
Fibrous dysplasia of the bones, Bone pain, Recurrent fractures ORPHA:57782
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Postnatal growth retardation, Osteopetrosis, ... OMIM:620366
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Generalized joint laxity, Male hypogonadism, Micropenis, Hypogonadotropic hypogonadis... ORPHA:432
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Abnormality of the dentition, Osteoporosis, ... OMIM:300604
Osteogenesis Imperfecta, Type Xix
Osteopenia, Severe short stature, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple p... OMIM:301014
Osteopetrosis, Autosomal Recessive 6
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... OMIM:611497
Monosomy 5P
Microretrognathia, Finger syndactyly, Short stature, Recurrent fractures, Small hand, Joint hyper... ORPHA:281
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Short stature, Cranial hyperostosis, Dental malocclusion, Diaphysea... OMIM:259730
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Micrognathia, Hepatomegaly, Increased bone mineral density, Short s... OMIM:259720
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis, Hypogonadotropic hypogonadism, Abnormality of the dentition OMIM:615269
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Hyperextensibility of the finger joints, Short stature, Recurrent frac... OMIM:613849
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Increased bone mineral density, Severe short stature, Micrognathia, Fa... ORPHA:2780
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Ck Syndrome
Dental crowding, Micrognathia, Abnormal digit morphology, Retrognathia, High palate, Malar flatte... OMIM:300831
Eiken Syndrome
Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b... ORPHA:79106
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis ORPHA:1522
Marbach-Rustad Progeroid Syndrome
Femur fracture, Short stature, Delayed eruption of primary teeth, Micrognathia, Reduced bone mine... OMIM:619322
Odontochondrodysplasia 1
Delayed eruption of teeth, Short metacarpal, Brachydactyly, Short stature, Metaphyseal widening, ... OMIM:184260
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Bowing of the legs, Flared metaphysis, Growth delay, Elevated circulating parathyroid... OMIM:619073
Pituicytoma
Decreased serum testosterone concentration, Decreased female libido, Pituicytoma, Decreased respo... ORPHA:251623
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Short stature, Splenomegaly, Growth delay, Osteopetrosis, Intrauterine growth retar... OMIM:618541
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition OMIM:125440
Short Stature, Dauber-Argente Type
Long toe, Osteopenia, Delayed eruption of teeth, Arachnodactyly, Short stature, Decreased fibular... OMIM:619489
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... ORPHA:90793
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Shyness, Cryptorchidism, Increased circulating gonad... ORPHA:163971
Familial Expansile Osteolysis
Bowing of the long bones, Bone pain, Osteolysis, Pathologic fracture, Premature loss of teeth, Th... OMIM:174810
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Short stature, Micrognathia, Osteopetrosis, Decreased body weight... OMIM:617306
Grant Syndrome
Bowing of the long bones, Short stature, Micrognathia, Open bite, Joint hyperflexibility, Abnorma... ORPHA:2097
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Recurrent fractures, Eosinophilia, Craniosynostosis, Persistence of primary teeth, Hi... OMIM:147060
Dentin Dysplasia
Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology ORPHA:1653
Vitamin D-Dependent Rickets, Type 2A
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Elevated circ... OMIM:277440
Osseous Heteroplasia, Progressive
Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue OMIM:166350
Desmosterolosis
Increased bone mineral density, Severe short stature, Micrognathia, Metatarsus adductus, Splenome... ORPHA:35107
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Multiple prenatal fractures, Dentinogenesis imperfecta, Decreased calvarial ... OMIM:259440
Osteosclerotic Metaphyseal Dysplasia
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclero... OMIM:615198
Proteus Syndrome
Splenomegaly, Open mouth, Mandibular hyperostosis, Calvarial hyperostosis, Lymphangioma, Facial h... OMIM:176920
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Tibiofibular diastasis, Joint stiffness... ORPHA:566943
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti... ORPHA:2501
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the... OMIM:130060
Osteoglophonic Dysplasia
Osteopenia, Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,... OMIM:166250
Avascular Necrosis Of Femoral Head, Primary, 1
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis OMIM:608805
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav... ORPHA:2769
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Hepatomegaly, Bowing of the long bones, Recurrent fractures, Craniosyn... ORPHA:667
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Micrognathia, Cryptor... OMIM:619326
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Gorham-Stout Disease
Osteopenia, Abnormality of the temporomandibular joint, Abnormal pelvis bone morphology, Osteomye... ORPHA:73
Trichodentoosseous Syndrome
Microdontia, Increased bone mineral density, Taurodontia, Widely spaced teeth OMIM:190320
Metatropic Dysplasia
Severe short stature, Camptodactyly of finger, Abnormal enchondral ossification, Joint stiffness,... ORPHA:2635
Congenital Disorder Of Glycosylation, Type Iik
Joint laxity, Metaphyseal dysplasia, Hepatomegaly, Short stature, Elevated circulating creatine k... OMIM:614727
X-Linked Hypophosphatemia
Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femoral condyles, R... ORPHA:89936
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Decreased circulating dih... OMIM:228300
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Weismann-Netter Syndrome
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... ORPHA:3344
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Elevated circ... OMIM:264700
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteopenia, Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplas... ORPHA:2232
Isolated Osteopoikilosis
Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ... ORPHA:166119
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Short stature, Osteomalacia, Premature loss of primary teeth, Abnormality of... ORPHA:93160
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Reduced bone mineral density, Decreased serum estradiol, ... ORPHA:90796
Mccune-Albright Syndrome
Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious puberty, Abnormal facial skeleton... ORPHA:562
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp... OMIM:614856
Hereditary Sensory And Autonomic Neuropathy Type 2
Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal epiphysis... ORPHA:970
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay
Osteopenia, Recurrent fractures OMIM:619884
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Hepatomegaly, Recurrent fractures, Splenomegaly, Gingivitis, Premature loss of teeth,... OMIM:618107
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Severe generalized osteoporosis, Recurrent fractures, Multiple prenatal frac... OMIM:259420
Majeed Syndrome
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic ane... ORPHA:77297
Osteopetrosis With Renal Tubular Acidosis
Micrognathia, Leukopenia, High palate, Prominence of the zygomatic bone, Hepatomegaly, Short stat... ORPHA:2785
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Pycnodysostosis
Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Hi... ORPHA:763
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Short stature, Osteomalacia, Irregular, rachitic-like metaphyses, Subp... ORPHA:289157
Lethal Congenital Contracture Syndrome Type 1
Short stature, Recurrent fractures, Micrognathia, Limitation of joint mobility, Slender long bone... ORPHA:1486
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Ambiguous genitalia, female, Increased circulating renin le... ORPHA:90791
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Osteopenia, Mandibular prognathia, Recurrent fractures, Postnatal growth retardation, Delayed ske... ORPHA:2324
Buschke-Ollendorff Syndrome
Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob... OMIM:300869
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Hepatomegaly, Femur fracture, Splenomegaly, Growth delay, Os... OMIM:612301
Winchester Syndrome
Gingival overgrowth, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, Gen... OMIM:277950
Rothmund-Thomson Syndrome
Osteopenia, Aplastic anemia, Selective tooth agenesis, Reduced bone mineral density, Neutropenia,... ORPHA:2909
Flynn-Aird Syndrome
Increased bone mineral density, Joint stiffness, Carious teeth, Osteoporosis, Increased bone dens... OMIM:136300
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Abnormal circulati... OMIM:307800
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... OMIM:273250
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... ORPHA:2658
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Increased spinal bone density, Bone pain, Recurrent fractures, Tongue fasciculations ORPHA:329475
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropeni... OMIM:614172
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Abnormal number of incisors, Coxa valga, Cryptorchidism, Osteoporosis, Finger clinodactyly, Bilat... ORPHA:2958
49,Xxxyy Syndrome
Eunuchoid habitus, Mandibular prognathia, External genital hypoplasia, Abnormality of the testis ... ORPHA:261534
Hypophosphatasia, Adult
Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss of primary t... OMIM:146300
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absent pubic hair, Decreased c... OMIM:614841
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Short stature, Co... ORPHA:2484
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... ORPHA:85188
Prieto Syndrome
11 pairs of ribs, Coxa valga, Abnormality of the dentition, Cryptorchidism, Osteoporosis, Talipes... OMIM:309610
Hypophosphatasia
Bowing of the long bones, Failure to thrive in infancy, Recurrent fractures, Craniosynostosis, Ab... ORPHA:436
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... OMIM:600785
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Ovari... ORPHA:251510
Hypophosphatemic Rickets, Autosomal Dominant
Short stature, Osteomalacia, Abnormality of the dentition, Rickets, Hypophosphatemia, Hypophospha... OMIM:193100
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Multiple joint contractures, Microcytic anemia, T lymphocytopenia, Decreased serum es... ORPHA:2959
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Growth delay, Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia ORPHA:3240
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Bowing of the legs, Rickets, Growth delay, Iron deficiency anemia, Hypocalcemia, Hy... ORPHA:89937
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Thin bony cortex, Recurrent fractures, Bowing of the legs, Enlargement of the wrists, Delayed epi... OMIM:600081
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Broad jaw, Increased bone mineral density, Craniosynostosis ORPHA:178377
Forsythe-Wakeling Syndrome
Short stature, Osteoporosis, Growth delay, Decreased body weight, Thrombocytopenia OMIM:613606
Schnitzler Syndrome
Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Bone pain, Lymphadenopa... ORPHA:37748
49,Xyyyy Syndrome
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Impulsivity, Micr... ORPHA:99330
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteopenia, Cleft lip, Osteoporosis, Delayed puberty OMIM:615271
Fibrous Dysplasia Of Bone
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Patchy reduct... ORPHA:249
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Tented upper lip vermilion, Increased skull ossification, Metaphyseal widening, Craniofacial oste... OMIM:618476
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Joint laxity, Short metacarpal, Delayed eruption of teeth, Short stature, Camptodacty... OMIM:612350
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Recurrent fractures, Short stature, Increased circulating gonadot... ORPHA:2410
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Short metacarpal, Short stature, Short metatarsal, Obesity, Osteoporos... OMIM:612463
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Short stature, Joint stiffness, Postnatal growth retardation, Splenomegaly, Cleft p... OMIM:620210
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, Accelerated skeletal maturation, High palate, Amelogenesis i... OMIM:618363
Cranioectodermal Dysplasia
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Craniosynostosis... ORPHA:1515
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Joint stiffness, Hypothyroidism, Increased circ... ORPHA:465508
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxi... OMIM:226990
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... OMIM:615285
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Short metacarpal, Short stature, Short toe, Short metatarsal, Osteopor... OMIM:103580
Hall-Riggs Syndrome
Metaphyseal dysplasia, Delayed skeletal maturation, Thick lower lip vermilion, Osteoporosis, Micr... OMIM:234250
Rothmund-Thomson Syndrome, Type 1
Premature ovarian insufficiency, Short stature, Conical tooth, Osteoporosis, Male hypogonadism, H... OMIM:618625
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Thin upper lip vermilion, Short metacarpal, Dental crowding, Short stature, Avascular... OMIM:190351
Rothmund-Thomson Syndrome Type 2
Osteopenia, Aplastic anemia, Patellar hypoplasia, High palate, Neutropenia, Microdontia, Short ph... ORPHA:221016
Autosomal Recessive Primary Microcephaly
Growth delay, Thin upper lip vermilion, Abnormal cortical bone morphology, Short stature ORPHA:2512
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Oligodontia, High palat... OMIM:224300
Extensor Tendons Of Finger Anomalies
Limitation of joint mobility, Osteoporosis, Camptodactyly of finger ORPHA:3294
Aredyld Syndrome
Mandibular prognathia, Hepatomegaly, Craniofacial hyperostosis, Short stature, Abnormal dental en... ORPHA:1133
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Thin bony cortex, Recurrent fractures, Decreased circulating parathyroid hormone level, Bowing of... OMIM:241530
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Cole-Carpenter Syndrome 2
Osteopenia, Microretrognathia, Short stature, Recurrent fractures, Postnatal growth retardation, ... OMIM:616294
Familial Hyperprolactinemia
Osteopenia, Hemorrhagic ovarian cyst, Female hypogonadism, Osteoporosis, Menorrhagia, Infertility... ORPHA:397685
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Coxa valga, Joint stiffness, Splenomegaly, Protruding tongue, Patent ductus arterio... OMIM:230600
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Short metacarpal, Short stature, Elevated circulating thyroid-stimulat... OMIM:612462
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Osteolysis, ... ORPHA:3019
12q14 microdeletion syndrome
Osteopoikilosis, Proportionate short stature DECIPHER:76
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... ORPHA:95513
Gaucher Disease Type 1
Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocyt... ORPHA:77259
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Lymphad... ORPHA:100024
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Pseudopseudohypoparathyroidism
Short stature, Short distal phalanx of the 3rd finger, Abnormality of the endocrine system, Short... ORPHA:79445
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Short stature, Protrusio acetabuli, Recurrent fractures, Coxa vara, Inc... OMIM:610968
Autosomal Dominant Severe Congenital Neutropenia
Osteopenia, Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Premature loss of teeth, Oral ... ORPHA:486
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, O... ORPHA:98850
Craniodiaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Craniofacial hyperostosis, Short stature, Cortical sclerosis, Craniofacial... OMIM:122860
Isolated Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Short stature, Elevated circulating creatine kinase concentration, Cry... ORPHA:408
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Short statu... ORPHA:1782
Rothmund-Thomson Syndrome Type 1
Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Microdontia, Short phalanx of fing... ORPHA:221008
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... ORPHA:90650
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Joint hyperflexibility, Brachydactyly, Osteoporosis, Short distal phalanx of finger ORPHA:2787
Hyaline Fibromatosis Syndrome
Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Gingival fibroma... OMIM:228600
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Variant Abeta2M Amyloidosis
Multiple bony cystic lesions, Abnormality of the tongue, Hepatic amyloidosis, Wrist pain, Patholo... ORPHA:314652
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Primary amenorrhea, Micro... OMIM:618841
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Abnormality of the philtrum, Camptodactyly of finger, Recurrent fractures, Microg... ORPHA:3409
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... OMIM:616030
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Camptodactyly of finger, Joint stiffness, Osteo... ORPHA:137834
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... OMIM:311300
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate, Craniosynostosis, Intrauterine growth retardation OMIM:600252
Juvenile Paget Disease
Bowing of the long bones, Short stature, Recurrent fractures, Abnormality of the dentition, Crani... ORPHA:2801
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Osteopenia, Pathologic fracture, Bone cyst OMIM:618193
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Joint laxity, Crumpled long bones, Short stature, Metaphyseal widening, Osteoporosis,... ORPHA:2788
Multiple Epiphyseal Dysplasia Type 1
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... ORPHA:93308
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hypoparathyroidism, Bowing of the long bones, Hip contracture, Severe short stature, ... OMIM:156400
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... OMIM:166260
Lethal Recessive Chondrodysplasia
Micrognathia, Accelerated skeletal maturation, Generalized osteosclerosis, Macroglossia, Short lo... ORPHA:1423
Mogs-Cdg
Absent brainstem auditory responses, External genital hypoplasia, Decreased circulating IgG level... ORPHA:79330
Mohr Syndrome
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... OMIM:252100
Adenohypophysitis
Hyponatremia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating ... ORPHA:95512
Hypophosphatemic Bone Disease
Short stature, Osteomalacia, Bowing of the legs, Rickets, Hypophosphatemia OMIM:146350
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormality of visual evok... ORPHA:320401
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... OMIM:610915
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Small for gestational age, Short stature, Micrognathia, Postnatal grow... ORPHA:73272
Hypophosphatasia, Infantile
Craniosynostosis, Bowing of the legs, Abnormality of the dentition, Increased susceptibility to f... OMIM:241500
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal ... OMIM:144750
Fgfr2-Related Bent Bone Dysplasia
Osteopenia, Natal tooth, Extramedullary hematopoiesis, Hypoplastic ischia, Bowing of the legs, Mi... ORPHA:313855
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Ane Syndrome
Alopecia, Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior p... ORPHA:157954
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased circulating luteinizing hormone level, Decreased ci... OMIM:614897
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency, Pseudobulbar paralysis ORPHA:101006
Estrogen Resistance Syndrome
Osteopenia, Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gon... ORPHA:785
Marshall-Smith Syndrome
Bowing of the long bones, Craniosynostosis, Protruding tongue, Accelerated skeletal maturation, G... ORPHA:561
Cole-Carpenter Syndrome 1
Osteopenia, Short stature, Recurrent fractures, Micrognathia, Reduced bone mineral density, Micro... OMIM:112240
Orofaciodigital Syndrome Type 2
Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib... ORPHA:2751
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... ORPHA:75508
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating osteocalcin level, Short stature, Osteomalacia, Decreased circulating parat... ORPHA:157215
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop... OMIM:618986
Cranio-Osteoarthropathy
Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Clubbing of toes, Deviation of finger... ORPHA:1525
Hypophosphatemic Rickets, X-Linked Recessive
Thin bony cortex, Short stature, Osteomalacia, Recurrent fractures, Bowing of the legs, Enlargeme... OMIM:300554
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Bent Bone Dysplasia Syndrome 1
Bent long bone, Natal tooth, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Hepatospl... OMIM:614592
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Recurrent aphthous stomatitis, Neutropenia, Monocytopenia... ORPHA:2688
Camurati-Engelmann Disease
Mandibular prognathia, Increased bone mineral density, Carious teeth, Lower limb pain, Diaphyseal... OMIM:131300
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Thin bony cortex, Coxa valg... ORPHA:85184
Camurati-Engelmann Disease
Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnormal femur morphology, Cor... ORPHA:1328
Osteogenesis Imperfecta, Type Iv
Short stature, Recurrent fractures, Increased susceptibility to fractures, Reduced bone mineral d... OMIM:166220
Warburg Micro Syndrome 1
Overlapping toe, Short stature, Micrognathia, Cryptorchidism, Osteoporosis, Wide nasal bridge, Th... OMIM:600118
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... ORPHA:1452
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormality of pattern vis... OMIM:616648
Solitary Bone Cyst
Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Unicameral bone cyst, Patho... ORPHA:83468
Achondrogenesis Type 1A
Severe short stature, Recurrent fractures, Micrognathia, Abnormal enchondral ossification, Short ... ORPHA:93299
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, S... ORPHA:289176
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... ORPHA:231222
Infantile Systemic Hyalinosis
Osteopenia, Severe short stature, Abnormal dental morphology, Osteomalacia, Camptodactyly of fing... ORPHA:2176
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis, Short metatarsal, ... OMIM:251450
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Melorheostosis
Increased bone mineral density, Joint stiffness, Bone pain, Hyperostosis, Arthritis, Ectopic ossi... ORPHA:2485
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Short stature, Recurrent fractures, Increased susceptibility to fractures, Femoral bo... OMIM:615066
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Bowed humerus, Recurrent fractures, Short stature, Dentinogenesis imperfecta, Hip d... OMIM:616507
Brachyolmia Type 1, Hobaek Type
Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short... OMIM:271530
Craniometadiaphyseal Dysplasia
Osteopenia, Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Short stature,... OMIM:269300
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Functioning Gonadotropic Adenoma
Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad... ORPHA:91348
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Failure to thrive, Small for gestational age, Rocker bottom foot, Coxa... OMIM:214150
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Joint laxity, Diabetes mellitus, Short stature, Osteoporosis, Primary amenorrhea, Delayed thelarc... OMIM:616033
Diastrophic Dysplasia
Bowing of the long bones, Increased bone mineral density, Camptodactyly of finger, Proximal place... ORPHA:628
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Severe short stature, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowing OMIM:126550
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Micrognathia, Osteoarthritis, Deep philtrum, Short metatarsal, Cone-shaped epiphyses ... OMIM:190350
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy... OMIM:231095
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Small scrotum, Hypogon... OMIM:308700
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Osteoporosis, Gout, Increased LDL cholesterol concentration, Type II diabet... OMIM:610947
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Proportionate short stature, Short toe, Obesity, Cone-shaped epiphyses of the phalang... OMIM:619269
Weismann-Netter Syndrome
Severe short stature, Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibula... OMIM:112350
Greenberg Dysplasia
Abnormal leukocyte morphology, Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathi... ORPHA:1426
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morph... ORPHA:93351
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Short stature, Rhizomelia, Micro... OMIM:613848
Linear Verrucous Nevus Syndrome
Short metacarpal, Toe syndactyly, Hypophosphatemia, Reduced bone mineral density ORPHA:2611
Perrault Syndrome 1
Short stature, Increased circulating gonadotropin level, Osteoporosis, Primary amenorrhea, High p... OMIM:233400
Pachydermoperiostosis
Hepatomegaly, Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Small hand... ORPHA:2796
Woodhouse-Sakati Syndrome
Osteopenia, Alopecia, Streak ovary, Premature ovarian insufficiency, Decreased response to growth... ORPHA:3464
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Coxa vara, Tibial bowing, Reduced bone mineral density, Iron deficiency anemia, High palate, Abno... ORPHA:93315
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Prominence of the premaxilla, Short stature, Wide anterior fontane... OMIM:614886
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteopenia, Abnormality of the dentition, Osteoporosis, Absence of pubertal development, Hypogona... OMIM:615267
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Short stature, Osteolysis, Increased susceptibility to fractures, Abnormal long bone morphology, ... ORPHA:52430
Pycnodysostosis
Increased bone mineral density, Short stature, Aplastic clavicle, Micrognathia, Absent frontal si... OMIM:265800
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... ORPHA:231226
Odontochondrodysplasia
Delayed eruption of teeth, Bowing of the long bones, Short stature, Coxa valga, Patent ductus art... ORPHA:166272
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteopenia, Hepatomegaly, Failure to thrive, Short stature, Hepatocellular carcinoma, Hyperlipide... ORPHA:369
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Delayed eruption of teeth, Osteomyelitis, Recurrent fractures, Eosinophilia, Craniosy... ORPHA:2314
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... OMIM:259600
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Micromelia, Proximal placement of thumb, Cryptorchidism, Abnorma... ORPHA:3121
Familial Isolated Hyperparathyroidism
Osteopenia, Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone ... ORPHA:99879
Angel-Shaped Phalango-Epiphyseal Dysplasia
Delayed eruption of teeth, Short stature, Delayed skeletal maturation, Hip osteoarthritis, Joint ... ORPHA:63442
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Metaphyseal dysplasia, Abnormal dental morphology, Short stature, Micrognathia, Fract... ORPHA:319195
Bruck Syndrome 1
Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Ost... OMIM:259450
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Syndactyly, Irregular dentition, Pericardial lymphangiectasia, Osteoporosis, Pulmonary lymphangie... OMIM:616006
Hjv Or Hamp-Related Hemochromatosis
Diabetes mellitus, Congenital hepatic fibrosis, Increased circulating ferritin concentration, Ele... ORPHA:79230
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Fractures of the long bones, Bone pain, Osteolysis, Femora... OMIM:602080
Caffey Disease
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... ORPHA:1310
Temple-Baraitser Syndrome
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Short stature... ORPHA:420561
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Thin upper lip vermilion, Decreased response to growth hormone stimulation test, Patchy osteoscle... OMIM:241410
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Abnormality of t... OMIM:612394
Raine Syndrome
Mandibular prognathia, Micromelia, Micrognathia, High palate, Microdontia, Long hallux, Increased... OMIM:259775
Osteosarcoma
Abnormal femoral metaphysis morphology, Osteolysis, Weight loss, Abnormal tibial metaphysis morph... ORPHA:668
Diastrophic Dysplasia
Hip contracture, Small for gestational age, Costal cartilage calcification, Flattened epiphysis, ... OMIM:222600
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Mycetoma
Osteomyelitis, Bone cyst, Osteoporosis, Abnormality of the lymphatic system, Abnormal forearm bon... ORPHA:2583
Usher Syndrome, Type I
Sensorineural hearing impairment, Abnormal electroretinogram, Undetectable electroretinogram OMIM:276900
Osteoporosis
Osteoporosis OMIM:166710
Aarskog-Scott Syndrome
Joint laxity, Hyperextensibility of the finger joints, Elevated circulating luteinizing hormone l... OMIM:305400
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Mild postnatal growth retardation, Hypoplasia of the maxilla, Neonatal epi... OMIM:101800
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, High palate, Clinodactyly of the 5th finger, Short tib... OMIM:268305
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Short stature, Hypoplas... OMIM:615349
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... ORPHA:750
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Bowing of the long bones, Short stature, Metaphyseal sclerosis, Thrombocytopenia, Pos... OMIM:612199
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Camptodactyly of finger, Short stature, Malar prominence, Microgna... ORPHA:48431
Chondrodysplasia, Blomstrand Type
Micrognathia, Accelerated skeletal maturation, Generalized osteosclerosis, Squared iliac bones, F... OMIM:215045
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Aplasia of the distal... ORPHA:364577
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... ORPHA:231214
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Osteopenia, Bowing of the long bones, Microretrognathia, Small for gestational... OMIM:616229
Osteogenesis Imperfecta, Type I
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures, Hip dyspl... OMIM:166200
Cystinosis
Short stature, Portal hypertension, Nephrogenic diabetes insipidus, Rickets, Hypophosphatemia, Hy... ORPHA:213
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Osteoporosis, Cirrhosis, Failure... ORPHA:79301
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Coxa valga, Micrognathia, Wide anterior fontanel, Flattened epiph... ORPHA:163649
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Decreased serum insulin-like growth factor 1, Short stature, Cryptorchidism, 2... ORPHA:314389
W Syndrome
Hypoplasia of the ulna, Radial bowing, Broad uvula, Elbow dislocation, Metatarsus adductus, Submu... ORPHA:2804
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Satb2-Associated Syndrome Due To A Pathogenic Variant
Osteopenia, Smooth philtrum, Thin upper lip vermilion, Micrognathia, Abnormality of the dentition... ORPHA:576283
Geroderma Osteodysplastica
Mandibular prognathia, Severe short stature, Recurrent fractures, Hip dislocation, Osteoporosis, ... ORPHA:2078
Shwachman-Diamond Syndrome
Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Metaphyseal cho... ORPHA:811
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Micrognathia, A... OMIM:617952
Gracile Bone Dysplasia
Failure to thrive, Short stature, Asplenia, Flared metaphysis, Slender long bone, Hypoplastic spl... OMIM:602361
Polyendocrine-Polyneuropathy Syndrome
Alopecia, Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Central ... ORPHA:453533
Sanjad-Sakati Syndrome
Hypoparathyroidism, Short stature, Abnormal dental enamel morphology, Patchy osteosclerosis, Micr... ORPHA:2323
Cardiospondylocarpofacial Syndrome
Severe short stature, High, narrow palate, Short palm, Failure of eruption of permanent teeth, To... ORPHA:3238
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Dental crowding, Micrognathia, Generalized joint laxity, Tibial bowing, High palate, ... ORPHA:251028
Spondylometaphyseal Dysplasia, Pagnamenta Type
Rhizomelia, Delayed skeletal maturation, Femoral bowing, Short 5th metacarpal, Short 4th metacarp... OMIM:619638
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... OMIM:166740
Mulibrey Nanism
Hepatomegaly, Dental crowding, Short stature, Absent frontal sinuses, Enamel hypoplasia, Hypoplas... OMIM:253250
Ophthalmomandibulomelic Dysplasia
Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of j... ORPHA:2741
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Osteopenia, Cryptorchidism, Osteoporosis, Cleft palate, Genu valgum, Primary amenorrhea, Small pi... OMIM:614880
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Singleton-Merten Syndrome 1
Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Dec... OMIM:182250
Hamamy Syndrome
Osteopenia, Microcytic anemia, Micrognathia, High palate, Clinodactyly of the 5th finger, Long to... OMIM:611174
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Osteoporosis, Primary amenorrhea OMIM:233300
Cleidocranial Dysplasia 2
Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Wid... OMIM:620099
Cleidocranial Dysplasia 1
Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, High, narrow palate... OMIM:119600
Krabbe Disease
Abnormal flash visual evoked potentials, Autoimmune thrombocytopenia, Decreased nerve conduction ... OMIM:245200
Acrodysostosis
Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radiu... ORPHA:950
Dent Disease 1
Thin bony cortex, Short stature, Osteomalacia, Recurrent fractures, Bowing of the legs, Enlargeme... OMIM:300009
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Hypogeusia, Decreased serum zinc, Alopecia of scalp, Hypogonadism, Decreased serum ... OMIM:201100
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Dysostosis, Stanescu Type
Bowing of the long bones, Increased bone mineral density, Short stature, Abnormal dental enamel m... ORPHA:1798
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Short stature, Recurrent fractures, Splenomegaly, Abnormal metaphysis morphology ORPHA:417
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Persistence of primary teeth, Supernumerary tooth, Increased susceptibility to fractures, High pa... OMIM:619752
Cockayne Syndrome B
Dry hair, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplastic iliac win... OMIM:133540
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Deep philtrum, Thrombocytopenia, Micrognathia ORPHA:1237
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth d... OMIM:301078
Osteogenesis Imperfecta
Osteopenia, Abnormality of dental color, Micrognathia, Abnormal tibia morphology, Flexion contrac... ORPHA:666
Craniometaphyseal Dysplasia, Autosomal Recessive
Mandibular prognathia, Metaphyseal dysplasia, Flared metaphysis, Delayed eruption of permanent te... OMIM:218400
Momo Syndrome
Delayed eruption of teeth, Short stature, Large for gestational age, Thick lower lip vermilion, D... ORPHA:2563
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures OMIM:612287
Spondyloepiphyseal Dysplasia Tarda
Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e... ORPHA:93284
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Eunuchoid habitus, Mandibular prognathia, Elevated circulating luteinizing hormone level, Sparse ... ORPHA:3044
Bruck Syndrome 2
Osteopenia, Short stature, Flexion contracture, Elbow flexion contracture, Increased susceptibili... OMIM:609220
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Cockayne Syndrome A
Dry hair, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplastic iliac win... OMIM:216400
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h... ORPHA:52368
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Bone Marrow Failure Syndrome 3
Congenital hip dislocation, Aplastic anemia, Micrognathia, Pancreatic steatosis, Oral ulcer, Redu... OMIM:617052
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Mandibular prognathia, Osteoporosis OMIM:619971
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, A... ORPHA:1772
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Joint hyperflexibility, Abnormality of the ovary, Decreased testicular size ORPHA:1875
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... ORPHA:1263
Hypophosphatemic Rickets And Hyperparathyroidism
Hyperparathyroidism, Short stature, Hypercalcemia, Parathyroid hyperplasia, Rickets, Elevated cir... OMIM:612089
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Severe short stature,... OMIM:231070
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short stature, Narrow mouth, Reduced bone mineral density, Thin vermilion border, Abnormal metaca... ORPHA:2370
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Hepatomegaly, Anemia of inadequate production, Carious teeth, Splenomegaly, Jaundice,... OMIM:612714
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... OMIM:313500
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ... ORPHA:2235
Greenberg Dysplasia
Micrognathia, Multiple prenatal fractures, Hypoplasia of the maxilla, Patchy variation in bone mi... OMIM:215140
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Small for gestational age, Diabetes mellitus, Elevat... OMIM:274300
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ... OMIM:201000
Xp22.13P22.2 Duplication Syndrome
Short stature, Congenital diaphragmatic hernia, Tapered finger, Small hand, 2-3 toe syndactyly, P... ORPHA:284180
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Short femur, Fractured radius, Small for gestational age, Decreased fibular diameter,... OMIM:616897
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Reduced bone min... ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Reduced bone mineral density, Sex rever... ORPHA:168558
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... ORPHA:363417
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures OMIM:612286
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... OMIM:614839
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Malar flattening, Epiphyseal stippling, Short 3rd metacarpal, Limb undergrowth, Short... OMIM:118651
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Short stature, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow e... OMIM:614078
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Hypogonadotropic hypogonadism, Joint hypermobility, Diastema, Cryptorchidism, Supernu... OMIM:619718
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Micrognathia, Crowded maxillary incisors, Abnormal femur morphology, Abnormal fibula morphology, ... ORPHA:2063
Acrootoocular Syndrome
Decreased palmar creases, Abnormal finger flexion crease, Decreased response to growth hormone st... ORPHA:2980
Fanconi Renotubular Syndrome 2
Osteopenia, Short stature, Recurrent fractures, Osteomalacia, Rickets, Elevated circulating parat... OMIM:613388
Maffucci Syndrome
Short stature, Recurrent fractures, Bone pain, Osteolysis, Growth delay, Multiple enchondromatosis ORPHA:163634
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Sparse axillary hair, Elevated circulating ... ORPHA:99429
Fanconi-Bickel Syndrome
Osteopenia, Hepatomegaly, Bowing of the long bones, Diabetes mellitus, Hypertriglyceridemia, Fail... ORPHA:2088
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Increased body mass index, Congenital hip dislocation, Delayed skeleta... OMIM:614450
Peroxisomal Acyl-Coa Oxidase Deficiency
Sensorineural hearing impairment, Abnormal electroretinogram, Optic atrophy, EEG abnormality, Low... ORPHA:2971
Hutchinson-Gilford Progeria Syndrome
Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi... ORPHA:740
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Severe short stat... OMIM:127000
Schwartz-Jampel Syndrome, Type 1
Elevated circulating creatine kinase concentration, Micromelia, Bowing of the legs, Micrognathia,... OMIM:255800
12Q14 Microdeletion Syndrome
Short stature, Micrognathia, Abnormality of the spleen, Osteopoikilosis, Downturned corners of mo... ORPHA:94063
Bloom Syndrome
Syndactyly, Small for gestational age, Elevated hemoglobin A1c, Decreased fertility in females, P... OMIM:210900
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Hypoplastic ... ORPHA:93296
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cleft lip, Osteoporosis, Cleft palate, Clinodactyly, Decreased tes... OMIM:614838
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Temporal op... ORPHA:1215
Roifman Syndrome
Hip contracture, Epiphyseal dysplasia, Thin upper lip vermilion, Short stature, Eosinophilia, Pos... ORPHA:353298
Caffey Disease
Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon... OMIM:114000
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Short stature, Micrognathia, Nephrogenic diabetes insipidus, Carious teeth, Supernumerary tooth, ... ORPHA:3145
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Hip contracture, Toe syndactyly, Elevated circulating creatine kinase concentration, ... OMIM:616809
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, High palate, Microdo... ORPHA:536467
Autosomal Dominant Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Short stature, Persistence of primary teeth, ... ORPHA:93325
Pseudohypoparathyroidism Type 1C
Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Hypergonadotropic hypogona... ORPHA:79444
Dyskeratosis Congenita
Abnormality of neutrophils, Hypoplasia of the maxilla, Periodontitis, Avascular necrosis, Hepatom... ORPHA:1775
Brachydactyly, Type E1
Short metacarpal, Moderately short stature, Short metatarsal, Short clavicles, Multiple impacted ... OMIM:113300
Retinal Dystrophy With Or Without Extraocular Anomalies
Premature ovarian insufficiency, Secondary amenorrhea, Goiter OMIM:617175
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Hypogonadism, Osteoporosis, Delayed puberty OMIM:615270
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Absent eyebrow, Short metacarpal, Alopecia, Short stature, Craniosynostosis, Absen... ORPHA:166035
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
H Syndrome
Hallux valgus, Short stature, Recurrent fractures, Microcytic anemia, Cleft upper lip, Delayed sk... ORPHA:168569
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Absent peripheral lymph nodes in presence of infection, Conical tooth, Increased T ce... ORPHA:98813
Bone Marrow Failure Syndrome 6
Osteopenia, Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean co... OMIM:618849
Pseudohypoparathyroidism Type 1B
Delayed eruption of teeth, Calcinosis, Increased bone mineral density, Short stature, Cortical su... ORPHA:94089
Müllerian Aplasia And Hyperandrogenism
Thick eyebrow, Frontal balding, Synophrys, Obesity, Primary amenorrhea, Cleft palate, Hypoplasia ... ORPHA:247768
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:601455
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Delayed skeletal maturation, Downturned corners of mouth, Abnormal epiphysi... ORPHA:2643
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Osteo... ORPHA:143
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hypo... ORPHA:93346
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Dental crowding, Tapered finger, Unilateral radial aplasia, Partial absence of thumb, Micrognathi... ORPHA:476126
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal electroretinogram... ORPHA:1933
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Short statur... OMIM:239000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Oral ulcer, Gingivitis, Periodontitis, Hepatic steatosis, Hepatomegaly, Short stature... ORPHA:79259
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Multiple prenatal fractures, Disproportionate short-limb short stature, Decreased calvarial ossif... OMIM:259410
Optic Atrophy 5
Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy OMIM:610708
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thromboc... ORPHA:824
Orofacial Cleft 15
Agenesis of lateral incisor, Bilateral cleft palate, Single transverse palmar crease, Bilateral c... OMIM:616788
Canavan Disease
Abnormality of visual evoked potentials, EEG abnormality, Optic atrophy, Hearing impairment ORPHA:141
Oculodentodigital Dysplasia
Mandibular prognathia, Micrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal ... ORPHA:2710
Neurodegeneration With Brain Iron Accumulation 2A
Decreased nerve conduction velocity, Optic atrophy, Gliosis, Abnormality of visual evoked potenti... OMIM:256600
Osteogenesis Imperfecta, Type Vii
Osteopenia, Crumpled long bones, Short stature, Protrusio acetabuli, Femoral retroversion, Bowing... OMIM:610682
Combined Oxidative Phosphorylation Deficiency 55
Short stature, Single transverse palmar crease, Elevated circulating creatine kinase concentratio... OMIM:619743
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Abnormality of dental color, Short stature, Recurrent fractures, Abnormal toe morphol... OMIM:163200
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Stüve-Wiedemann Syndrome
Osteopenia, Bowing of the long bones, Short stature, Camptodactyly of finger, Recurrent fractures... ORPHA:3206
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... ORPHA:90795
Astley-Kendall Dysplasia
Epiphyseal stippling, Disproportionate short-limb short stature, Micromelia ORPHA:85175
Woodhouse-Sakati Syndrome
Alopecia, Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypog... OMIM:241080
Osteootohepatoenteric Syndrome
Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Microvesicular hepatic ... OMIM:619377
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Short stature ORPHA:2786
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Small for gestational age, Short stature, Reduced bone mineral density, Delayed ossification of c... OMIM:618392
Spermatogenic Failure 25
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia OMIM:617960
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Severe short stature, Osteoporosis OMIM:204730
Neutropenia-Monocytopenia-Deafness Syndrome
Sensorineural hearing impairment, Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Joint laxity, Short stature, Coxa valga, Pierre-Robin sequence, Advanced ossification of carpal b... OMIM:620269
Terminal Osseous Dysplasia
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm... OMIM:300244
Spinal muscular atrophy, type I, with congenital bone fractures
Osteopenia, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Multiple prenatal fra... OMIM:271225
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Sickle Cell Anemia
Pigment gallstones, Hemolytic anemia, Osteomyelitis, Reticulocytosis, Microcytic anemia, Abnormal... ORPHA:232
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short stature, Short middle phalanx of the 2nd finger, Hypoplasia of the m... OMIM:156510
Lowry-Maclean Syndrome
Osteopenia, Single transverse palmar crease, Craniosynostosis, Micrognathia, Bilateral cryptorchi... ORPHA:2409
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Short stature, Rickets, Hepatosplenomegaly, Decreased mean cor... OMIM:611590
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... ORPHA:2325
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Carious teeth, Postnatal growth retardation, ... ORPHA:93324
Elsahy-Waters Syndrome
Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Cutaneous finger synd... OMIM:211380
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Pathologic fracture, Bone cyst OMIM:221770
Porphyria, Congenital Erythropoietic
Osteopenia, Hemolytic anemia, Hepatomegaly, Erythrodontia, Short stature, Splenomegaly, Jaundice,... OMIM:263700
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Hypoammonemia, Micrognathia, Deep ph... ORPHA:534
Filippi Syndrome
Single transverse palmar crease, 2-4 toe syndactyly, Cryptorchidism, Postnatal growth retardation... OMIM:272440
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hypercalcemia, Elevated circulating parathyroid hormone level, Hyperphosphatemia, Par... OMIM:617994
Gaucher Disease Type 3
Hepatomegaly, Increased bone mineral density, Pancytopenia, Splenomegaly, Delayed skeletal matura... ORPHA:77261
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cel... ORPHA:98848
Bruck Syndrome
Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Osteoporosis, Arth... ORPHA:2771
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... OMIM:615897
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Osteo... ORPHA:99880
Niemann-Pick Disease, Type A
Hepatomegaly, Short stature, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Osteoporosi... OMIM:257200
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Abnormal electroretinogram, Optic atrophy OMIM:165510
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Metaphyseal dysplasia, Short stature, Bowing of the legs, Reduced bone mineral density, Delayed o... OMIM:617974
Tsh-Secreting Pituitary Adenoma
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male h... ORPHA:91347
Trichorhinophalangeal Syndrome Type 2
Thin upper lip vermilion, Bilateral single transverse palmar creases, Short stature, Abnormality ... ORPHA:502
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Rickets of the lower... ORPHA:882
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, De... ORPHA:95716
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Short stature, Hypoplasia of the maxilla, Carious teeth, High iliac wi... ORPHA:50814
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Absent oss... OMIM:166210
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Recurrent fractures, Joint hyperflexibility, Decreased calvarial ossification, Disproportionate s... ORPHA:2772
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Failure to thrive, Osteoporosis, Macrovesicular hepatic steatosis OMIM:618234
Trichothiodystrophy 2, Photosensitive
Short stature, Agenesis of maxillary lateral incisor OMIM:616390
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Hajdu-Cheney Syndrome
Osteopenia, Micrognathia, Absent frontal sinuses, Bone pain, Downturned corners of mouth, Periodo... ORPHA:955
Ruijs-Aalfs Syndrome
Short stature, Single transverse palmar crease, Micrognathia, Elbow flexion contracture, Osteopor... OMIM:616200
Cantu Syndrome
Broad hallux, Short hallux, Coxa valga, Large for gestational age, Metaphyseal widening, Thick lo... OMIM:239850
Oncogenic Osteomalacia
Abnormality of the tarsal bones, Fibrous dysplasia of the bones, Abnormal femur morphology, Abnor... ORPHA:352540
Classic Galactosemia
Male infertility, Hepatomegaly, Decreased serum insulin-like growth factor 1, Premature ovarian i... ORPHA:79239
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity OMIM:618406
Osteogenesis Imperfecta, Type Xxi
Recurrent fractures, Coxa valga, Bowing of the legs, Osteoporosis, Coxa vara, Disproportionate sh... OMIM:619131
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Short stature, Splenom... OMIM:211600
Micro Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora,... ORPHA:2510
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulati... OMIM:235200
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Optic disc pallor, EEG with abnormally slow frequencies, Abnormality of pattern visual evoked pot... ORPHA:1947
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Micrognathia, High palate, Short palm, Microdontia, Short stature, Short t... OMIM:268400
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Osteoporosis, Obesity, Absence ... OMIM:610628
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Al-Gazali Syndrome
Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Micrognathia, Br... OMIM:609465
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Osteopathia str... ORPHA:93357
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia OMIM:183300
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials, EEG with burst suppression OMIM:609304
47,Xyy Syndrome
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... ORPHA:8
Trisomy 9P
Dental crowding, Non-midline cleft lip, Impacted tooth, Downturned corners of mouth, Clinodactyly... ORPHA:236
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Diabetes mellitus, Hypouricemia, Short stature, Large for gestational age, Rickets,... OMIM:616026
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia, Macr... ORPHA:3000
Sialidosis Type 2
Hepatomegaly, Short stature, Splenomegaly, Flexion contracture, Osteoporosis ORPHA:87876
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... OMIM:301059
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Fanconi Renotubular Syndrome 1
Short stature, Osteomalacia, Rickets, Hypokalemia, Hypophosphatemia OMIM:134600
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteoar... ORPHA:77296
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormal amplitude of flash visual evoked potentials, EEG with photoparoxysmal response, Multifoc... ORPHA:168491
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Recurrent fractures, Hypercalcemia, Splenomegaly, Primary hyperparathyr... OMIM:239200
Frontometaphyseal Dysplasia 1
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... OMIM:305620
Faciocardiomelic Syndrome
Osteopenia, Dysharmonic bone age, Large for gestational age, Micrognathia, Dental malocclusion, W... OMIM:612731
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal circulating hormone concentration, Abnormal endometrium m... ORPHA:314478
Gigantiform Cementoma, Familial
Cementoma, Tooth malposition, Multiple impacted teeth OMIM:137575
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Diabetes mellitus, Dental crowding, Hypertriglyceridemia, Micrognathia, Cryptorchid... OMIM:615381
Zimmermann-Laband Syndrome
Hallux valgus, Hepatomegaly, Micrognathia, Splenomegaly, Supernumerary tooth, Gingival fibromatos... ORPHA:3473
Nestor-Guillermo Progeria Syndrome
Microretrognathia, Dental crowding, Short stature, Limited elbow movement, Joint stiffness, Micro... OMIM:614008
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Failure to thrive, Stomatitis, Short stature, Postnatal growth retardation, Os... OMIM:212750
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate... OMIM:249710
Stuve-Wiedemann Syndrome 1
Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contracture, Smooth tongue, Short tibia... OMIM:601559
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density, H... ORPHA:172
Kenny-Caffey Syndrome, Type 1
Proportionate short stature, Carious teeth, Delayed skeletal maturation, Small hand, Short foot, ... OMIM:244460
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79443
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Mandibular prognathia, Hyperextensibility of the finger joints, Smooth philtrum, Dental crowding,... OMIM:309583
Clark-Baraitser syndrome
Joint laxity, Tapered finger, Obesity, Genu valgum, Short palm, Macroorchidism OMIM:300602
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Lymphangioma, Recurrent fractures, Reduced bone mineral density ORPHA:137608
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Short stature, Diabetes insipidus, Sensorineural hearing impairment, Undetecta... ORPHA:423479
Methylcobalamin Deficiency Type Cble
Syndactyly, Macrocytic anemia, Pancytopenia, Hypomethioninemia, Postnatal growth retardation, Ost... ORPHA:2169
Acrocraniofacial Dysostosis
Short stature, Craniosynostosis, Tapered finger, Coxa valga, Micrognathia, Cleft palate, Ulnar de... ORPHA:949
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Facial hypotonia, Flexion contracture, Small hand, Obesity, Macroorchidism, Male hypogonadism, Ma... OMIM:300055
Warburg Micro Syndrome 2
Small scrotum, Asymmetry of the ears, Postnatal growth retardation, Cryptorchidism, Macrotia, Opt... OMIM:614225
Megalencephaly
Macroorchidism, Truncal obesity, Long penis, Genu valgum ORPHA:2477
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenit... ORPHA:2239
Gapo Syndrome
Hepatomegaly, Micrognathia, Wide anterior fontanel, High, narrow palate, Thick lower lip vermilio... OMIM:230740
Brittle Cornea Syndrome
Hallux valgus, Arachnodactyly, Abnormality of the dentition, Osteoporosis, Cleft palate, Increase... ORPHA:90354
Spinocerebellar Ataxia, Autosomal Recessive 20
Delayed eruption of teeth, Hepatomegaly, Dental crowding, Splenomegaly, Macroglossia, Long philtr... OMIM:616354
Coffin-Lowry Syndrome
Hypoplasia of the maxilla, High palate, Widely spaced teeth, Advanced eruption of teeth, Short me... ORPHA:192
Paternal Uniparental Disomy Of Chromosome 1
Short stature, Abnormal dental enamel morphology, Recurrent fractures, Craniosynostosis, Obesity,... ORPHA:251004
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Osteoporosis, Obesity,... OMIM:615300
Achondrogenesis
Severe short stature, Micromelia, Micrognathia, Abnormal enchondral ossification, Abnormality of ... ORPHA:932
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, EEG abnorm... OMIM:617021
Holoprosencephaly 9
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:610829
Aromatase Deficiency
Eunuchoid habitus, Macroorchidism, postpubertal, Osteopenia, Male infertility, Hypergonadotropic ... ORPHA:91
Mucolipidosis Ii Alpha/Beta
Osteopenia, Micrognathia, Metaphyseal widening, Progressive alveolar ridge hypertropy, Hepatomega... OMIM:252500
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Immunodeficiency 12
Short stature, Abnormal lymphocyte count, Clubbing, Cheilitis, Osteoporosis, Growth delay, Recurr... OMIM:615468
46,Xx Gonadal Dysgenesis
Osteopenia, Streak ovary, Premature ovarian insufficiency, Sparse pubic hair, Increased circulati... ORPHA:243
Achondrogenesis Type 1B
Severe short stature, Micromelia, Abnormal enchondral ossification, Micrognathia, Disproportionat... ORPHA:93298
Primary Non-Essential Cutis Verticis Gyrata
Abnormality of pattern visual evoked potentials, Gliosis ORPHA:357225
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Hypothyroidism, Female infertility, Goiter OMIM:617577
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Brachydactyly, Failure to thrive, Recurrent fractures, Micrognathia, H... OMIM:601812
Lead Poisoning
Delayed eruption of teeth, Small for gestational age, Delayed skeletal maturation, Cranial hypero... ORPHA:330015
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Bo... OMIM:112250
Cln5 Disease
Multifocal epileptiform discharges, EEG with focal spikes, Abnormality of visual evoked potential... ORPHA:228360
Idiopathic Hypercalciuria
Osteopenia, Abnormal circulating calcium concentration, Osteoporosis ORPHA:2197
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... ORPHA:139507
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T4 concentration, Increased circulating thyroglobulin level, Increased... OMIM:188570
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Bone pain, Oste... ORPHA:324964
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia, Genu valgum OMIM:618913
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Single transverse palmar crease, Osteoporosis, Elevated circulating phytanic acid c... OMIM:266510
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... ORPHA:90794
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Mild neurosensory hearing impairmen... OMIM:601152
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Aspartylglucosaminuria
Mandibular prognathia, Hepatomegaly, Abnormal morphology of ulna, Joint stiffness, Abnormality of... ORPHA:93
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Macs Syndrome
Joint laxity, Irregular dentition, Hypergonadotropic hypogonadism, Single transverse palmar creas... OMIM:613075
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent... ORPHA:1350
Lysinuric Protein Intolerance
Hepatomegaly, Short stature, Recurrent fractures, Splenomegaly, Delayed skeletal maturation, Oste... OMIM:222700
Hyperparathyroidism, Transient Neonatal
Osteopenia, Short femur, Metaphyseal spurs, Recurrent fractures, Patent ductus arteriosus, Femora... OMIM:618188
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... OMIM:300998
Spondylocarpotarsal Synostosis Syndrome
Carpal synostosis, Epiphyseal dysplasia, Short metacarpal, Vertebral fusion, Bowed humerus, Tarsa... OMIM:272460
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Hypophosphatemic rickets, Male hypogonadism, Male infertility, Hyponat... OMIM:219800
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Dense metaphyseal bands, Osteopenia, Small for gestational age, Short stature, Slender long bones... ORPHA:50811
Insulin-Like Growth Factor I Deficiency
Osteopenia, Short stature, Micrognathia, Postnatal growth retardation, Delayed skeletal maturatio... OMIM:608747
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Osteopenia, Hypogonadotropic hypogonadism, Abnormality of the dentition OMIM:615266
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Delayed epiphyseal ossification, Elevated circulating thyroid-stimulat... ORPHA:226313
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Failure to thrive, Short stature, Wide nasal bridge, Joint contracture, High palate, ... OMIM:618005
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con... OMIM:271640
Rhizomelic Chondrodysplasia Punctata
Rhizomelia, Short stature, Abnormality of the dentition, Limitation of joint mobility, Growth del... ORPHA:177
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Failure to thrive, Reduced... OMIM:615592
Lathosterolosis
Elevated hepatic transaminase, Toe syndactyly, Bilobate gallbladder, Increased mean platelet volu... OMIM:607330
Tarp Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Extramedullary hematopoiesis, Small earlobe... ORPHA:2886
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Rhizomelia, Short stature, Micromelia, Craniosynostosis, Elbow... ORPHA:93329
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
White-Sutton Syndrome
Joint laxity, Short stature, Posteriorly rotated ears, Optic nerve hypoplasia, Facial hypotonia, ... OMIM:616364
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Craniolenticulosutural Dysplasia
Osteopenia, Joint laxity, Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Car... OMIM:607812
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis, Osteolysis i... ORPHA:371428
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Micrognathia, Accelerated skeletal maturation, Shoulder dislocation, Microdontia, Dis... OMIM:245600
Cohen Syndrome
Single transverse palmar crease, Decreased response to growth hormone stimulation test, Micrognat... OMIM:216550
Blomstrand Lethal Chondrodysplasia
Natal tooth, Short metacarpal, Bowing of the long bones, Increased bone mineral density, Rhizomel... ORPHA:50945
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Dental crowding, Arachnodactyly, Limitation of joint mobility, Osteoporosis, Hyperhomocystinemia,... OMIM:236200
Fanconi-Bickel Syndrome
Hepatomegaly, Hypouricemia, Osteomalacia, Postnatal growth retardation, Intrahepatic cholestasis,... OMIM:227810
Lujan-Fryns Syndrome
Arachnodactyly, Camptodactyly of finger, Protruding ear, Joint hyperflexibility, Low-set ears, Ma... ORPHA:776
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Micrognathia, Glossoptosis, High palate, Short stature, Rhizomelia, Squared iliac bon... OMIM:611209
Fragile X Syndrome
Macroorchidism, postpubertal, Joint laxity, Macrotia, Metacarpophalangeal joint hyperextensibilit... OMIM:300624
Peho Syndrome
Optic atrophy, Hypsarrhythmia, Undetectable visual evoked potentials, Pachygyria, Polymicrogyria OMIM:260565
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism, Limited elbow extension, Tapered finger OMIM:300706
Polyembryoma
Abnormal circulating gonadotropin concentration, Elevated circulating alpha-fetoprotein concentra... ORPHA:180229
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism, Macrotia, Obesity, Bilateral sensorineural hearing impairment OMIM:300238
Robinow Syndrome
Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Orofacial cleft, Clito... ORPHA:97360
19P13.3 Microduplication Syndrome
Unilateral cryptorchidism, Micrognathia, Precocious puberty, Long fingers, Osteoporosis, Cleft pa... ORPHA:447980
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Downturned corners of mouth, Premature adrenarche, Hypothalamic luteinizing hormone-r... ORPHA:398079
Frank-Ter Haar Syndrome
Osteopenia, Micrognathia, High palate, Short palm, Short phalanx of finger, Cortical irregularity... OMIM:249420
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Abnormality of neutrophils, Microg... ORPHA:235
Hennekam Syndrome
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... ORPHA:2136
Mirage Syndrome
Short stature, Rocker bottom foot, Radial club hand, Thrombocytopenia, Patent ductus arteriosus, ... OMIM:617053
Rhyns Syndrome
Osteopenia, Radial bowing, Short stature, Decreased response to growth hormone stimulation test, ... OMIM:602152
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Ost... OMIM:610489
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Short stature, Abnormality of the dentition, Osteoporosis, Palmopl... OMIM:613989
Ovarian Dysgenesis 8
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Osteoporosis, Primary amenorrh... OMIM:618187
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hy... OMIM:612526
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Osteopenia, Micrognathia, Accelerated skeletal maturation, Flexion contracture, Bifid uvula, Disl... OMIM:130070
Luscan-Lumish Syndrome
Mandibular prognathia, Shyness, Aggressive behavior, Irregular menstruation, Obesity, Advanced os... OMIM:616831
Multiple Enchondromatosis, Maffucci Type
Pathologic fracture, Multiple enchondromatosis OMIM:614569
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:620196
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia, Abnormal electroretinogram, Hydrocele testis, Slender long bone, Increased seru... ORPHA:96181
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:615081
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Macroorchidism, Delayed proximal ... ORPHA:90674
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, Perianal abscess, Cryptorchidism... OMIM:612541
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Natal tooth, Short stature, Cranial hyperostosis, Oligodontia, Hypodontia OMIM:601345
Gapo Syndrome
Mandibular prognathia, Delayed eruption of teeth, Short stature, Micrognathia, Delayed skeletal m... ORPHA:2067
Pitt-Hopkins Syndrome
Tapered finger, Postnatal growth retardation, Broad fingertip, Small hand, Short metatarsal, Fing... ORPHA:2896
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Analbuminemia
Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra... OMIM:616000
Hallermann-Streiff Syndrome
Natal tooth, Recurrent fractures, Tracheomalacia, Micrognathia, Abnormality of the dentition, Cry... ORPHA:2108
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Severe short stature, Osteomalacia, Coxa valga, Avascular necrosis of the capital fem... ORPHA:1901
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Shortening of all middle phalanges of the fingers, Ivory epiphyses of the toes, Hepatomegaly, Sho... OMIM:226980
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism, Short stature OMIM:300428
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Joint laxity, Hepatomegaly, Ulnar deviation of the wrist, Coxa valga, Gray... OMIM:253010
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Bowing of the long bones, Short stature, Small abnormally for... ORPHA:140
Atkin-Flaitz Syndrome
Macroorchidism, Macrotia, Short stature, Obesity ORPHA:1193
C Syndrome
Micromelia, Micrognathia, Clinodactyly, High palate, Dislocated radial head, Hepatomegaly, Short ... OMIM:211750
Weill-Marchesani Syndrome 1
Short stature, Proportionate short stature, Joint stiffness, Broad metatarsal, Hypoplasia of the ... OMIM:277600
Trisomy 20P
Low anterior hairline, Reduced bone mineral density, Protruding ear, Coarse hair, Low-set, poster... ORPHA:261318
Propionic Acidemia
Hepatomegaly, Pancytopenia, Short stature, Osteoporosis, Hyperammonemia, Anemia, Hyperglycinemia,... OMIM:606054
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Short stature, Osteoarthritis, Abnormality of radial e... ORPHA:166002
Progressive Pseudorheumatoid Dysplasia
Enlarged interphalangeal joints, Camptodactyly of finger, Joint stiffness, Enlarged metacarpophal... OMIM:208230
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Iliac crest serration, Small for gestational age, Short stature, Wide distal femoral metaphysis, ... OMIM:613320
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Decreased circulating cortisol level, Anorexia, Hashimoto thyroiditis, Hypopar... ORPHA:199299
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Short stature, M... ORPHA:2863
Schimke Immunoosseous Dysplasia
Osteopenia, Pancytopenia, Small for gestational age, Thrombocytopenia, Neutropenia, Disproportion... OMIM:242900
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Joint laxity, Hepatomegaly, Ulnar deviation of the wrist, Coxa valga, Gray... OMIM:253000
Gaucher Disease
Osteopenia, Osteoarthritis, Bone pain, Avascular necrosis, Hepatomegaly, Increased bone mineral d... ORPHA:355
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Anterior pituita... OMIM:619841
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Short stature, Recurrent fractures, Joint hypermobility, Reduced bone mineral density OMIM:619115
Catifa Syndrome
Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Camptodactyly, Tooth malp... OMIM:618761
Bangstad Syndrome
Pancytopenia, Severe short stature, Small for gestational age, Insulin-resistant diabetes mellitu... OMIM:210740
Post-Traumatic Pituitary Deficiency
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... ORPHA:95619
Familial Papillary Or Follicular Thyroid Carcinoma
Recurrent fractures, Follicular thyroid carcinoma, Chronic noninfectious lymphadenopathy, Abnorma... ORPHA:319487
Prader-Willi Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Downturned corners of mouth, S... OMIM:176270
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity,... ORPHA:457395
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Mandibular prognathia, Toe syndactyly, Short stature, Camptodactyly of finger, Ope... ORPHA:1327
Infantile Neuroaxonal Dystrophy
Cerebellar gliosis, Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality of v... ORPHA:35069
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ... ORPHA:2972
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Recurrent fractures, Joint stiffness, ... ORPHA:83
Tricho-Retino-Dento-Digital Syndrome
Abnormality of the hand, Abnormality of the dentition, Supernumerary tooth, Oligodontia, Short 5t... ORPHA:1264
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Tooth agenesis, Mesomelia, Abnormal palate morphology, Brachydactyly ORPHA:1277
Peters-Plus Syndrome
Short lingual frenulum, Single transverse palmar crease, Limited elbow movement, Proximal placeme... OMIM:261540
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Hajdu-Cheney Syndrome
Osteopenia, Micrognathia, Absent frontal sinuses, High palate, Premature loss of teeth, Dislocate... OMIM:102500
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Short stature, Obesity, Focal EEG discharges with secondary generalization ORPHA:3077
Xp21 Deletion Syndrome
Joint laxity, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine ... ORPHA:261476
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Joint hypermobility, Joint stiffness, Postnatal growth retardation, Pierre-Robin... OMIM:619184
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Pseudoachondroplasia
Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Fra... OMIM:177170
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Intrahepati... OMIM:607765
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal amplitude of pattern reversal visual evoked potentials, Progressive sensorineural hearin... OMIM:125250
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Elevated hepatic transaminase, Hepatomegaly, Micrognathia, Postnatal growth retardation, Metaphys... ORPHA:73230
X-Linked Retinoschisis
Abnormal electroretinogram ORPHA:792
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Sensorineural hearing impairment, Optic atrophy, Undetectable visual evoked potentials, Progressi... OMIM:601338
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Micrognathia... ORPHA:536471
Incontinentia Pigmenti
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... ORPHA:464
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Osteopenia, Short metatarsal, Clitoral hypoplasia, Sparse hair, Short metacarpal, Rhizomelia, Con... OMIM:614813
Cerebrotendinous Xanthomatosis
Osteopenia, Abnormal tibia morphology, Abnormal finger morphology, Abnormal femur morphology, Gli... ORPHA:909
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... ORPHA:98754
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Osteomalacia, Primary hyperparathyroidism, Hypermagnesemia, Hypophosphatemia, Panc... OMIM:600740
2P21 Microdeletion Syndrome
Hypogonadism, Failure to thrive, Long eyelashes, Hypocalcemia ORPHA:163693
Diamond-Blackfan Anemia 7
Osteopenia, Small hypothenar eminence, Macrocytic anemia, Short thumb, Osteoporosis, Cleft palate... OMIM:612562
Alstrom Syndrome
Decreased HDL cholesterol concentration, Alopecia, Hypertriglyceridemia, Hypergonadotropic hypogo... OMIM:203800
Spermatogenic Failure 14
Male infertility, Abnormal prolactin level, Azoospermia, Abnormal circulating testosterone concen... OMIM:615842
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Reduced bone mineral density, High palate, Hepatic steatosis, Joint laxity, Short sta... OMIM:613658
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Hypospadias, Hypercalcemia, Decreased response to growth hormone stimulation test, Ad... OMIM:614732
Spondyloepiphyseal Dysplasia Congenita
Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Osteoporosis, U... ORPHA:94068
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Dysmenorrhea, Increased body weight, Hepatic ... ORPHA:264580
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hy... ORPHA:2495
Cowden Syndrome 1
Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Thyroiditis, Furrowed tongue, Hydrocele... OMIM:158350
Schwartz-Jampel Syndrome
Elevated circulating creatine kinase concentration, Micromelia, Micrognathia, Coxa vara, High pal... ORPHA:800
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Mild postnatal growth retardation, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Hyp... OMIM:235510
Spinocerebellar Ataxia Type 1
Abnormal nerve conduction velocity, Abnormal flash visual evoked potentials, Optic atrophy, Abnor... ORPHA:98755
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Congenital hip dislocation, Limb joint contracture, ... ORPHA:404454
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials, Postaxial hand polydactyly, Short stature, Cachexia ORPHA:1389
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... ORPHA:177901
Ollier Disease
Micromelia, Joint stiffness, Precocious puberty, Osteolysis, Lymphangioma, Abnormal metaphysis mo... ORPHA:296
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Hepatomegaly, Micromelia, Splenomegaly, Delayed epiphyseal ossification, Flared met... OMIM:602557
Estrogen Resistance
Increased circulating osteocalcin level, Osteopenia, Hyperinsulinemia, Increased serum estradiol,... OMIM:615363
Axial Osteomalacia
Increased bone mineral density, Polycystic liver disease, Osteomalacia OMIM:109130
Prolactinoma
Osteopenia, Male hypogonadism, Hypogonadotropic hypogonadism, Osteoporosis, Decreased fertility i... ORPHA:2965
Trichorhinophalangeal Syndrome Type 1
Short metacarpal, Short stature, Camptodactyly of finger, Micrognathia, Avascular necrosis of the... ORPHA:77258
Optic Atrophy 1
Abnormal amplitude of pattern reversal visual evoked potentials, Optic atrophy OMIM:165500
X Small Rings
Joint laxity, Thin upper lip vermilion, Toe syndactyly, Premature ovarian insufficiency, Tapered ... ORPHA:96201
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... ORPHA:98793
Menkes Disease
Joint laxity, Decreased circulating ceruloplasmin concentration, Short stature, Metaphyseal spurs... OMIM:309400
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg... ORPHA:90652
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... OMIM:615962
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat... OMIM:619281
Laron Syndrome
Delayed eruption of teeth, Severe short stature, Micrognathia, Short toe, Osteoarthritis, Delayed... ORPHA:633
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Camptodactyly of finger, Wrist swelling, Bone cyst, Osteoporosis, Knee osteoarthritis, Coxa vara,... ORPHA:2848
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Prominent fingertip pads, Abnormal electroretinogram, Low anterior hairline, Optic atrophy, Abnor... OMIM:616875
Congenital Generalized Lipodystrophy
Mandibular prognathia, Overgrowth of external genitalia, Hypertriglyceridemia, Hypercholesterolem... ORPHA:528
Rubinstein-Taybi Syndrome 2
Syndactyly, Broad hallux, Short stature, Micrognathia, Carious teeth, Talon cusp, Dental malocclu... OMIM:613684
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Short stature, Craniosynostosis, Micromelia, Micrognathia, Split hand, Cleft p... ORPHA:2145
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ov... ORPHA:280356
Seckel Syndrome 1
Dental crowding, Abnormal finger flexion crease, Selective tooth agenesis, Micrognathia, High pal... OMIM:210600
Idiopathic Juvenile Osteoporosis
Bone pain, Osteoporosis, Recurrent fractures ORPHA:85193
48,Xxyy Syndrome
Delayed eruption of teeth, Broad jaw, Abnormal dental enamel morphology, Open bite, Carious teeth... ORPHA:10
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... ORPHA:177904
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Carious teeth, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Leukopenia, Inc... OMIM:127550
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Aplastic anemia, Short stature, Avascular necrosis of the capital femoral epiphysis... OMIM:613990
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsarrhythmia, EEG abnorm... ORPHA:485421
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hepatomegaly, Dental crowding, Short stature, Micrognathia, Persistence of primary teeth, Thick l... OMIM:618342
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo... ORPHA:1458
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Severe short stature, Bowing of the legs, Delayed epiphyseal ossification, Metaphys... ORPHA:93352
Morbid Obesity And Spermatogenic Failure
Obesity, Oligozoospermia, Azoospermia, Infertility, Type II diabetes mellitus, Hepatic steatosis OMIM:615703
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity OMIM:616871
Autoimmune Hypoparathyroidism
Increased bone mineral density, Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, H... ORPHA:36913
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperostosis, Subperiosteal bone formation, Taurodontia, Pulp calcification, Hyperpho... OMIM:211900
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Severe B lymphocytopenia, Micrognathia, Hepatic fibrosis, Microdontia, Accessory spleen, Portal h... OMIM:620005
Branchioskeletogenital Syndrome
Amelia involving the lower limbs, Mandibular prognathia, Unilateral cleft palate, Craniosynostosi... ORPHA:1299
Prader-Willi Syndrome
Osteopenia, Short stature, Abnormality of the dentition, Small hand, Osteoporosis, Increased susc... ORPHA:739
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Lymphadenopathy... OMIM:619644
De Barsy Syndrome
Osteopenia, Delayed eruption of teeth, Congenital hip dislocation, Short stature, Postnatal growt... ORPHA:2962
Partington Syndrome
Macroorchidism, EEG abnormality ORPHA:94083
Progressive Pseudorheumatoid Arthropathy Of Childhood
Enlarged interphalangeal joints, Abnormal circulating C-reactive protein concentration, Short sta... ORPHA:1159
Dent Disease
Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowin... ORPHA:1652
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Hypoplasia of the ulna, Abnormality of the dentition, Large for gestational age, Deep... OMIM:615398
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Generalized hypoplasia of dental enamel, Severe short stature, Carious teeth, Flexion contracture... OMIM:203550
Craniosynostosis 2
Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Triphalangeal th... OMIM:604757
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Short stature, Cleft soft p... OMIM:616331
Macular Dystrophy, Vitelliform, 2
Abnormal electroretinogram OMIM:153700
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... ORPHA:652
Aarskog-Scott Syndrome
Delayed eruption of teeth, Finger syndactyly, Short stature, Camptodactyly of finger, Cleft upper... ORPHA:915
Mccune-Albright Syndrome
Craniofacial hyperostosis, Polyostotic fibrous dysplasia, Pathologic fracture OMIM:174800
Glass Syndrome
Smooth philtrum, Arachnodactyly, Anterior tibial bowing, Dental crowding, Micrognathia, Long nose... OMIM:612313
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Failure to thrive, Short stature, Small for gestational age, Hypoplasia of the maxill... OMIM:608154
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Synophrys, Joint hypermobility, Uplifted earlobe OMIM:300143
Desbuquois Dysplasia 2
Dental crowding, Metaphyseal widening, Short phalanx of finger, Bifid uvula, Genu varum, Joint la... OMIM:615777
17Q11.2 Microduplication Syndrome
Macroorchidism, Short stature, Sparse eyelashes, Sparse eyebrow ORPHA:139474
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentra... ORPHA:79240
Paget Disease Of Bone 3
Fractures of the long bones, Bone pain, Osteolysis, Patchy osteosclerosis OMIM:167250
Hall-Riggs Syndrome
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Joint stiffness, Del... ORPHA:2107
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Pediatric-Onset Graves Disease
Hyperactivity, Craniosynostosis, Puberty and gonadal disorders, Splenomegaly, Thyrotoxicosis with... ORPHA:525731
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Goiter, Delayed proximal ... ORPHA:90673
Gillessen-Kaesbach-Nishimura Syndrome
Micrognathia, Wide anterior fontanel, Metaphyseal widening, Flexion contracture, Retrognathia, Pe... OMIM:263210
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Jo... ORPHA:93323
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Attached earlobe, Macrotia, Low-set ears, Undetectable visual evoked potentials ORPHA:436245
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Menometrorrhagia, Weight loss, Long eyelashes, Neutropenia, Abnormality... ORPHA:79430
Cowden Syndrome 5
Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Thyroiditis, Furrowed tongue, Hydrocele... OMIM:615108
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb shortening, Hypop... OMIM:611717
Addison Disease
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... ORPHA:85138
Cowden Syndrome 6
Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Thyroiditis, Furrowed tongue, Hydrocele... OMIM:615109
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Recurrent fractures, Abnormal lymph node morphology, Papil... ORPHA:97290
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... ORPHA:2496
Distal Renal Tubular Acidosis
Hemolytic anemia, Short stature, Osteomalacia, Rickets, Bone pain, Increased susceptibility to fr... ORPHA:18
Arthrogryposis, Distal, Type 2A
Mandibular prognathia, Dental crowding, Knee flexion contracture, High palate, Spina bifida occul... OMIM:193700
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Small for gestational age, Short stature, Fifth finger distal phalanx clinodactyly, Postnatal gro... ORPHA:3369
Cranioectodermal Dysplasia 1
Single transverse palmar crease, High, narrow palate, High palate, Widely spaced teeth, Hepatic f... OMIM:218330
Spondyloocular Syndrome
Long toe, Osteopenia, Overlapping toe, Arachnodactyly, Femur fracture, Abnormality of the dentiti... OMIM:605822
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Hypopl... ORPHA:33364
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Frontal balding, Precocious puberty, Incre... ORPHA:786
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Aplasia/Hypoplasia of the distal phalanges of... OMIM:113000
Satoyoshi Syndrome
Abnormal hair morphology, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Sparse or abs... ORPHA:3130
Kniest Dysplasia
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, ... ORPHA:485
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Osteopenia, Pancytopenia, Portal hypertension, Growth delay, Hepatic fibrosis, Bone marrow hypoce... OMIM:617341
Werner Syndrome
Increased bone mineral density, Short stature, Rocker bottom foot, Joint stiffness, Small hand, O... ORPHA:902
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Retroperitoneal fibrosis, Bone pain, Osteolysis, W... ORPHA:35687
Naegeli-Franceschetti-Jadassohn Syndrome
Decreased number of sweat glands, Swelling of proximal interphalangeal joints, Interphalangeal jo... ORPHA:69087
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Short stature, Sagittal craniosynostosis, Micrognathia OMIM:616901
Sapho Syndrome
Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Craniofacial osteoscler... ORPHA:793
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, Short stature, Micrognathia, High, narrow palate, Supernumerary tooth, Small h... ORPHA:1787
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Short stature, Metaphyseal cupping of proximal phalanges, Metaphyse... OMIM:300863
Weill-Marchesani Syndrome 2
Short metacarpal, Thin bony cortex, Short stature, Proportionate short stature, Joint stiffness, ... OMIM:608328
Hypercalcemia, Infantile, 2
Failure to thrive, Hypercalcemia, Hypophosphatemia OMIM:616963
Pontocerebellar Hypoplasia, Type 2E
Short stature, Micrognathia, Flexion contracture, Osteoporosis, Short nose, Failure to thrive OMIM:615851
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, P... OMIM:619797
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne... ORPHA:699
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Metaphyseal dysplasia, Eosinophilia, Coxa valga, Disproportionate short sta... OMIM:617425
Neu-Laxova Syndrome
Osteopenia, Abnormality of the philtrum, Osteomalacia, Micromelia, Micrognathia, Trismus, Submuco... ORPHA:2671
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Opsismodysplasia
Short metacarpal, Rhizomelia, Hypoplasia of the odontoid process, Hypophosphatemia, Short foot, H... OMIM:258480
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Splenomegal... ORPHA:905
Poems Syndrome
Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Weight loss, Lymphadenopat... ORPHA:2905
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Macrotia OMIM:300886
Stargardt Disease
Abnormality of visual evoked potentials ORPHA:827
Trichothiodystrophy 3, Photosensitive
Natal tooth, Lymphopenia, Short stature, Carious teeth, Neutropenia, Eclabion, Intrauterine growt... OMIM:616395
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated transferrin... OMIM:604250
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Hepatomegaly, Joint stiffness, Avascular necrosis of the capital femor... ORPHA:581
Teebi Hypertelorism Syndrome 1
Thin upper lip vermilion, Natal tooth, Dental crowding, Short stature, Sagittal craniosynostosis,... OMIM:145420
Hypotonia-Cystinuria Syndrome
Tented upper lip vermilion, Hypergonadotropic hypogonadism, Decreased response to growth hormone ... OMIM:606407
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... OMIM:619232
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Conjugated hyperb... ORPHA:95715
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Hypoplasia of the premaxilla, Fused labia minora, Micrognathia, Ambiguous genitalia, female, Prim... ORPHA:2975
Fragile X Syndrome
Macroorchidism, Joint laxity, Protruding ear ORPHA:908
Coxoauricular Syndrome
Short stature, Abnormal femur morphology, Micromelia, Reduced bone mineral density ORPHA:1508
Coffin-Siris Syndrome 3
Joint laxity, Short stature, Delayed skeletal maturation, Short distal phalanx of the 5th finger,... OMIM:614608
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating cortisol level, Orthostatic hypotension, Optic atrophy, Adrenocorticotropin... OMIM:231550
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Eosinophilia, Micrognath... OMIM:617237
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Adrenal hyperplasia, Diabetes mellitus, Osteoporosis, Increased body weight, Increase... OMIM:615830
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Flexion contracture, Increased body weight, Downturned corners of mouth, Hypothalamic... ORPHA:398069
Hutchinson-Gilford Progeria Syndrome
Micrognathia, Osteolysis, Growth delay, Malar flattening, Generalized osteoporosis OMIM:176670
Mepan Syndrome
Abnormality of visual evoked potentials, Optic atrophy ORPHA:508093
Hallermann-Streiff Syndrome
Natal tooth, Small for gestational age, Selective tooth agenesis, Abnormality of the hand, Microg... OMIM:234100
Spondylo-Ocular Syndrome
Short stature, Osteoporosis, Disproportionate short-trunk short stature, Joint hyperflexibility, ... ORPHA:85194
Langer Mesomelic Dysplasia
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Micromelia, Aplasia/... ORPHA:2632
Multiple Myeloma
Osteopenia, Splenomegaly, Bone pain, Weight loss, Lymphadenopathy, Pathologic fracture, Anemia ORPHA:29073
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... OMIM:101200
Ruvalcaba Syndrome
Short metacarpal, Dental crowding, Short stature, Micromelia, Cryptorchidism, Limited elbow exten... OMIM:180870
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat... ORPHA:2025
Coffin-Siris Syndrome 2
Delayed eruption of teeth, Sandal gap, Short stature, Delayed skeletal maturation, Thick lower li... OMIM:614607
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Arthritis, B lymphocytopenia,... ORPHA:397596
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Short stature, Postaxial polydactyly, Carious teeth,... OMIM:617102
Codas Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse... OMIM:600373
Roifman Syndrome
Hip contracture, Short metacarpal, Hepatomegaly, Thin upper lip vermilion, Eosinophilia, Short st... OMIM:616651
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Undetectable visual evoked potentials, Posteriorly rotated ears, Low-set ears ORPHA:163961
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... OMIM:611263
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti... OMIM:610475
Amed Syndrome, Digenic
Acute myeloid leukemia, Short stature, Adrenal hypoplasia, Anemia, Leukopenia, Hypoplasia of the ... OMIM:619151
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Carious teeth, Osteoporosis, Palmoplantar hyperkeratosis, Hepatic ... OMIM:224230
Pelizaeus-Merzbacher Disease
Short stature, Failure to thrive in infancy, Cachexia, Joint stiffness, Optic atrophy, Abnormalit... ORPHA:702
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
Steinert Myotonic Dystrophy
Tented upper lip vermilion, Decreased response to growth hormone stimulation test, Oral-pharyngea... ORPHA:273
Anti-Glomerular Basement Membrane Disease
Arthritis, Anemia, Persistence of primary teeth ORPHA:375
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Mandibular prognathia, Metaphyseal widening, Coxa vara, Neutropenia, Genu varum, Rhiz... OMIM:271510
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone lev... OMIM:603233
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Thin vermilio... ORPHA:2631
Acrocephalopolydactyly
Limb undergrowth, Hepatosplenomegaly, Short nose, Brachydactyly ORPHA:221054
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Cryptorchidism, Wide nasal bridge, Downturned corners of mouth, Wide mo... OMIM:618067
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi... ORPHA:1507
Ehlers-Danlos Syndrome, Classic-Like, 2
Hallux valgus, Osteopenia, Micrognathia, Cryptorchidism, Osteoarthritis, Generalized joint laxity... OMIM:618000
Pendred Syndrome
Compensated hypothyroidism, Increased circulating thyroglobulin level, Thyroid carcinoma, Goiter OMIM:274600
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... OMIM:166750
Tbck-Related Intellectual Disability Syndrome
Mandibular prognathia, Broad toe, 11 pairs of ribs, Hyperthyroidism, Tented upper lip vermilion, ... ORPHA:488632
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Prominent fingertip pads, Abnormal pinna morphology, Optic atrophy, Low anterior hairline, EEG ab... ORPHA:480898
Spondyloenchondrodysplasia With Immune Dysregulation
Metaphyseal dysplasia, Short stature, Short iliac bones, Metaphyseal sclerosis, Autoimmune thromb... OMIM:607944
Infantile Nephropathic Cystinosis
Abnormality of thyroid physiology, Rickets, Abnormal blood ion concentration, Growth delay, Hypok... ORPHA:411629
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Ectopi... ORPHA:2919
Kallmann Syndrome
Recurrent fractures, Delayed skeletal maturation, Obesity, Cleft palate, Reduced bone mineral den... ORPHA:478
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, Sinusitis, Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopen... ORPHA:277
Immunodeficiency 27A
Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, ... OMIM:209950
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Limited hip extension, Flexion contracture, Tibial bowing, Shoulder dislocation, High palate, Wid... OMIM:143095
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Recurrent fractures ORPHA:2773
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Osteoporosis, Rickets, Type I diabetes mellitus, Failure to thrive OMIM:560000
Chime Syndrome
Abnormal dental morphology, Aplastic clavicle, Abnormality of the dentition, Supernumerary tooth,... ORPHA:3474
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Thin lower lip vermilion, Decreased proportion of CD4-positive helper T cells, Abnorm... ORPHA:221139
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Cli... OMIM:300373
Immunodeficiency 102
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Aphthous ul... OMIM:301082
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Adrenal hyperplasia, Decreased circulating ACTH concentration, Osteoporosis, Truncal ... OMIM:219080
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Micromelia, Micrognathia, Long nose, Abnormal finger morphology, Short palm, Clinodac... ORPHA:2636
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition ORPHA:2222
Kyphomelic Dysplasia
Bowing of the long bones, Micromelia, Micrognathia, Joint stiffness, Missing ribs, Limitation of ... ORPHA:1801
Calciphylaxis
Ectopic ossification, Hyperphosphatemia, Secondary hyperparathyroidism ORPHA:280062
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of th... OMIM:250460
Intermediate Generalized Junctional Epidermolysis Bullosa
Growth delay, Enamel hypoplasia, Anemia, Oral mucosal blisters ORPHA:79402
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition ORPHA:2026
Oculocutaneous Albinism Type 1
Abnormality of visual evoked potentials ORPHA:352731
Achondrogenesis, Type Ii
Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of... OMIM:200610
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Dental crowding, Micrognathia, Achilles tendon contracture, Os... OMIM:620351
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Short stature, Thrombocytopenia, Reti... ORPHA:508542
Gonadoblastoma
Gonadal dysgenesis with female appearance, male, Female external genitalia in individual with 46,... ORPHA:206484
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Hepatic steatosis, Paradoxical increased cortisol secretion on ... ORPHA:189427
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Exaggerated cupid's bow, Rocker bottom foot, Wide mouth, Delayed eruption of permanent teeth, Thi... OMIM:618506
Andersen Cardiodysrhythmic Periodic Paralysis
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... OMIM:170390
Dysplasia Epiphysealis Hemimelica
Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiffness, Accele... ORPHA:1822
Vascular Malformation, Primary Intraosseous
Ectopic tooth eruption, Gingival bleeding, Hypochromic anemia OMIM:606893
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Cachexia, Abnormal soft palat... ORPHA:884
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials ORPHA:96
Primary Hyperoxaluria
Elevated hepatic transaminase, Recurrent fractures, Abnormality of the dentition, Generalized ost... ORPHA:416
Stickler Syndrome
Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Bone pain, Reduced bone mineral density,... ORPHA:828
Recon Progeroid Syndrome
Joint laxity, Smooth philtrum, Prominence of the premaxilla, Arachnodactyly, Dental crowding, Pro... OMIM:620370
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Brachycephaly, Trichomegaly, And Developmental Delay
Short stature, Single transverse palmar crease, Supernumerary tooth, Submucous cleft hard palate,... OMIM:617412
Hypercholanemia, Familial 1
Failure to thrive, Rickets OMIM:607748
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas... OMIM:615954
Microcephalic Primordial Dwarfism, Montreal Type
Severe short stature, Micrognathia, Open bite, Cryptorchidism, Carious teeth, Reduced bone minera... ORPHA:2617
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Metaphyseal widening, Short ribs, Limb undergrowth, Short nose, Coarse metaphyseal... OMIM:618961
Proteus Syndrome
Decreased muscle mass, Neoplasm of the thymus, Abnormal finger morphology, Clinodactyly of the 5t... ORPHA:744
Brittle Cornea Syndrome 1
Joint laxity, Congenital hip dislocation, Dentinogenesis imperfecta OMIM:229200
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Alg12-Cdg
Elevated hepatic transaminase, Thin upper lip vermilion, Sandal gap, Proximal placement of thumb,... ORPHA:79324
Lissencephaly Syndrome, Norman-Roberts Type
Microretrognathia, Rocker bottom foot, Intrauterine growth retardation, Hypoplastic spleen, Adduc... ORPHA:89844
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Dispro... OMIM:609616
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Hepatomegaly, Dental crowding, Down-sloping shoulders, Coxa valga, Joint stiffness, M... OMIM:248370
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Unicoronal syn... OMIM:616300
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Portal hypertension, Anemia, Lymphopenia, Thrombocytopenia OMIM:620365
Acute Panmyelosis With Myelofibrosis
Myelofibrosis, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... ORPHA:86843
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... ORPHA:2228
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Broad eyebrow, Hypospadias, Aggressive behavior, Sparse eyebrow, Cryptorchidism, Synophrys, Hypop... ORPHA:495875
Rabson-Mendenhall Syndrome
Mandibular prognathia, Dental crowding, Fasting hyperinsulinemia, Low anterior hairline, Prematur... ORPHA:769
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy, Abnorma... OMIM:125310
Dent Disease 2
Short stature, Elevated circulating creatine kinase concentration, Hypophosphatemia OMIM:300555
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Abnormality of visual evoked potentials OMIM:614457
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Thin bony cortex, Thick upper lip vermilion, Short stature, Thick lower li... OMIM:619727
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, Growth delay, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Leukocytosis, Anterior open-bite malocclusion, Hypothyroidism, Hashimoto thyroiditi... ORPHA:83601
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Hepatomegaly, Primary testicular failure, Renal interstitial amyloid deposits, ... ORPHA:85450
Friedreich Ataxia
Abnormality of visual evoked potentials, Decreased sensory nerve conduction velocity, Optic atrop... OMIM:229300
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Joint laxity, Short stature, Frontal open bite, Micrognathia, Postnatal growth retard... OMIM:225410
Cherubism
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... OMIM:118400
Mpdu1-Cdg
Undetectable visual evoked potentials, Optic atrophy, Decreased response to growth hormone stimul... ORPHA:79323
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Joint laxity, Hyperextensibility of the finger joints, Arachnodactyly, Flexion contracture, Low-s... OMIM:309520
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Macrotia, Obesity ORPHA:85286
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency, Short stature, Camptodactyly of finger, Micromelia, Furrowed ton... ORPHA:2928
Nail-Patella Syndrome
Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hypoplasia, R... ORPHA:2614
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Broad long bones, Severe short stature, Micrognathia, Metaphyseal widen... OMIM:224400
Three M Syndrome 2
Delayed eruption of teeth, Severe short stature, Small for gestational age, Short stature, Delaye... OMIM:612921
Brachydactyly, Type E2
Delayed eruption of teeth, Short metacarpal, Short stature, Short metatarsal, Oligodontia, Brachy... OMIM:613382
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Osteoporosis, Wide nasal bridg... ORPHA:1517
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Pseudohypoparath... OMIM:203330
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalce... OMIM:146200
Tenosynovial Giant Cell Tumor
Joint stiffness, Abnormality of the elbow, Limitation of joint mobility, Osteolysis, Abnormality ... ORPHA:66627
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth ORPHA:2027
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Short stature, Hepatocellular carcinoma, Splenomegaly, Hyperli... OMIM:232220
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Growth delay, Failure to thrive, Rickets OMIM:602722
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormality of the pancreas, Reduced bone mineral density, Long fibula, Abnormal metaphysis morph... ORPHA:935
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Werner Syndrome
Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Short stature, Osteoporosis, Re... OMIM:277700
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Micrognathia, Pancreatitis, Splenomegaly, Osteolytic defects of the phalanges of th... ORPHA:280365
Thyroid Cancer, Nonmedullary, 4
Goiter, Papillary thyroid carcinoma, Prostate cancer, Ovarian neoplasm OMIM:616534
Amish Lethal Microcephaly
Hepatomegaly, Cleft soft palate, Micrognathia, Limitation of joint mobility, Osteoporosis, Decrea... ORPHA:99742
Fanconi Renotubular Syndrome 3
Growth delay, Rickets, Short stature, Bowing of the legs OMIM:615605
Classic Homocystinuria
Elevated hepatic transaminase, Hepatomegaly, Arachnodactyly, Recurrent fractures, Dental crowding... ORPHA:394
Cole-Carpenter Syndrome
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Short stature, Recurren... ORPHA:2050
Spondyloenchondrodysplasia
Delayed eruption of teeth, Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Shor... ORPHA:1855
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Achondrogenesis, Type Ib
Micromelia, Short ribs, Absent or minimally ossified vertebral bodies, Malar flattening, Neonatal... OMIM:600972
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Farber Disease
Intrahepatic cholestasis with episodic jaundice, Short stature, Abnormality of the hand, Thromboc... ORPHA:333
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Everted upper lip vermilion, Splenomegaly, Decreased proportion of CD8-positive, al... OMIM:619824
Bloom Syndrome
Decreased circulating IgG level, Decreased proportion of CD4-positive T cells, Male infertility, ... ORPHA:125
Spastic Paraplegia 26, Autosomal Recessive
Upper limb muscle weakness, Decreased serum testosterone concentration, Lower limb muscle weaknes... OMIM:609195
Oculodentodigital Dysplasia, Autosomal Recessive
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Hypoplasia of the primary teeth, Short ... OMIM:257850
Shashi-Pena Syndrome
Thin upper lip vermilion, Short metacarpal, Osteoporosis, Deep palmar crease, Cervical C2/C3 vert... OMIM:617190
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Increased serum zinc, Osteoporosis OMIM:601979
Immunodeficiency 31C
Osteopenia, Hepatomegaly, Autoimmune hemolytic anemia, Impaired lymphocyte transformation with ph... OMIM:614162
Autosomal Recessive Cutis Laxa Type 2A
Congenital hip dislocation, Postnatal growth retardation, Wide anterior fontanel, Increased susce... ORPHA:357058
Marshall-Smith Syndrome
Irregular dentition, Large sternal ossification centers, Accelerated skeletal maturation, Distal ... OMIM:602535
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Increased circulatin... ORPHA:2298
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Thin upper lip vermilion, Micrognathia, Postnatal growth retardation, Wid... OMIM:619135
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteopenia, Osteoporosis ORPHA:529665
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures, Short stature OMIM:268315
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Hirsutism, Amenorrhea ORPHA:2795
Gray Platelet Syndrome
Myelofibrosis, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules,... OMIM:139090
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Osteopenia, Mandibular prognathia, Congenital hip dislocation, Short stature, Joint hypermobility... OMIM:616007
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Hyperactivity, Hypospadias, Abnorma... ORPHA:209905
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Bone Dysplasia, Lethal Holmgren Type
Metaphyseal dysplasia, Hepatomegaly, Rhizomelia, Micromelia, Abnormality of the hand, Abnormal th... ORPHA:1842
Cyclic Neutropenia
Premature loss of permanent teeth, Sinusitis, Cyclic neutropenia, Perianal abscess, Peritonitis, ... ORPHA:2686
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Hirsutism, Amenorrhea OMIM:184700
Atelosteogenesis Type Ii
Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Broad metacarpals, Hypo... ORPHA:56304
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Pierre-Robin sequence, Small hand, Cleft palate, Growth delay, Thic... OMIM:619980
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Postaxial polydactyly, Splenomegaly, P... OMIM:614576
3M Syndrome
Delayed eruption of teeth, Hypoplasia of the ulna, Congenital hip dislocation, Short stature, Roc... ORPHA:2616
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Lymphopenia, Eosinophilia, Limitation of joint mobility ORPHA:2582
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... OMIM:127300
Thyroid Dyshormonogenesis 2A
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... OMIM:274500
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Short stature, Bowing of the legs, Disproportionate short-limb short stature, Limb undergrowth, L... ORPHA:156728
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Micrognathia, Joint stiffness, Flexion contracture, Reduced bone mineral density, Weigh... ORPHA:1979
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Schneckenbecken Dysplasia
Hypoplastic scapulae, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Advanced ... OMIM:269250
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... OMIM:617519
Leukodystrophy, Hypomyelinating, 24
Severe short stature, Flexion contracture, B lymphocytopenia, Tongue fasciculations OMIM:619851
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Optic disc pallor, Skeletal muscle atrophy, Hypospadias, Optic neuropathy, Splenome... OMIM:252010
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Jaundice, Male ... ORPHA:90790
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Alopecia, Decreased circulating cortisol level, Decreased serum insulin-like growth... ORPHA:293978
Acromesomelic Dysplasia 3
Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ... OMIM:609441
Melnick-Needles Syndrome
Delayed eruption of teeth, Short humerus, Obtuse angle of mandible, Hypoplastic scapulae, Coxa va... OMIM:309350
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Low-frequency sensorineural hearing impairment, Lymphadenopathy, Hepatosplenomegaly... OMIM:613101
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal thumb morphology, Contractures of the large joints, Macroorchidism, Overfolded helix, Ma... ORPHA:324410
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Short tibia, Genu varum, Hypo... OMIM:607778
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, T lymphocytopenia, Narrow greater sciatic notch, Short phal... ORPHA:508533
Rin2 Syndrome
Irregular dentition, Gingival overgrowth, Increased susceptibility to fractures, Abnormal lip mor... ORPHA:217335
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Limitation of joint mobility, Osteoporosis, Clubbing, Osteolytic defects of the phala... OMIM:259100
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Hepatomegaly, Severe short stature, Short stature, Splenomegaly, Split... OMIM:309900
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Abnor... ORPHA:85435
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Wide anterior fontanel, Cleft pa... OMIM:619736
Sclerosteosis 1
Mandibular prognathia, Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Dental malocclusion... OMIM:269500
Orofaciodigital Syndrome I
Lobulated tongue, High palate, Hepatic fibrosis, Microretrognathia, Syndactyly, Short stature, Ha... OMIM:311200
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... OMIM:605282
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion OMIM:141300
Congenital Disorder Of Glycosylation, Type Iia
Osteopenia, Mandibular prognathia, Macrodontia, Short stature, Proximal placement of thumb, Coxa ... OMIM:212066
Acromicric Dysplasia
Short metacarpal, Severe short stature, Narrow mouth, Deep philtrum, Thick lower lip vermilion, D... OMIM:102370
Hypophosphatemic Rickets, Autosomal Recessive, 2
Short stature, Coxa valga, Carious teeth, Delayed skeletal maturation, Genu valgum, Hypoplasia of... OMIM:613312
48,Xxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Small scrotum, Abnormal de... ORPHA:96263
Abcd Syndrome
White eyelashes, White eyebrow, Aganglionic megacolon, Abnormal auditory evoked potentials, Albin... OMIM:600501
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Hepatomegaly, Short stature, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly... ORPHA:77293
Kallmann Syndrome-Heart Disease Syndrome
Osteopenia, Hypogonadotropic hypogonadism, Short lingual frenulum, Short stature, Bilateral crypt... ORPHA:2326
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Abnormality of the dentition, Short thumb, Patent ductus arteriosus, S... ORPHA:2712
Autosomal Dominant Robinow Syndrome
Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Downturned ... ORPHA:3107
Intellectual Disability, Birk-Barel Type
Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow palate, Incisor ma... ORPHA:166108
Glycerol Kinase Deficiency
Small for gestational age, Short stature, Chronic pancreatitis, Osteoporosis, Downturned corners ... OMIM:307030
Otospondylomegaepiphyseal Dysplasia
Short metacarpal, Abnormally ossified vertebrae, Sandal gap, Micrognathia, Osteoarthritis, Limita... ORPHA:1427
Nance-Horan Syndrome
Mandibular prognathia, Short metacarpal, Supernumerary tooth, Abnormality of the dentition ORPHA:627
Intermediate Nemaline Myopathy
Multiple prenatal fractures, High, narrow palate, Flexion contracture, Long philtrum, Arthrogrypo... ORPHA:171433
Retinitis Pigmentosa 31
Abnormal electroretinogram OMIM:609923
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Hepatomegaly, Absent brainstem auditory responses, Foot joint cont... ORPHA:90321
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Failure to thrive, Severe short stature, Camptodactyly of finger, Micrognathi... ORPHA:3047
Cog1-Cdg
Osteopenia, Thin upper lip vermilion, Rhizomelia, Coxa valga, Micrognathia, Postnatal growth reta... ORPHA:263508
Char Syndrome
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Persistence of primary te... ORPHA:46627
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Cln3 Disease
Undetectable electroretinogram, Vacuolated lymphocytes, Optic atrophy, Increased circulating andr... ORPHA:228346
Thymic Neuroendocrine Tumor
Osteopenia, Pancreatic islet cell adenoma, Pituitary null cell adenoma, Hypercalcemia, Neoplasm o... ORPHA:97289
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Micrognathia, Cleft upper lip, Flexion contracture, Cleft palate, Increased sus... OMIM:312150
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Natal tooth, Postaxial polydactyly, Micrognathia, Hamartoma of tongue, Wide a... OMIM:617925
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Optic atrophy, Bilateral sensorineural hearing impairment, N... ORPHA:309271
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormality of the elbow, Osteoar... ORPHA:429
Short Syndrome
Joint laxity, Enlarged epiphyses, Delayed eruption of teeth, Small for gestational age, Micrognat... OMIM:269880
Congenital Insensitivity To Pain With Severe Intellectual Disability
Osteomyelitis, Small for gestational age, Recurrent fractures, Rocker bottom foot, Micrognathia, ... ORPHA:453510
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Osteopenia, Hypogonadotropic hypogonadism, Short stature, Cleft upper lip, Cryptorchidism, Cleft ... OMIM:147950
Acrofacial Dysostosis, Weyers Type
Conical tooth, Abnormality of the dentition, Postaxial hand polydactyly, Small hand, Advanced eru... ORPHA:952
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... OMIM:112910
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... ORPHA:848
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Capitat... ORPHA:289
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... OMIM:210720
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Hepatic steatosis, Hepatomegaly, Acute pancreatitis, Portal hypertension, Osteo... OMIM:619487
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Knee flexion contra... OMIM:151050
Junctional Epidermolysis Bullosa Inversa
Oral mucosal blisters, Carious teeth, Growth delay, Enamel hypoplasia, Anemia ORPHA:79405
X-Linked Intellectual Disability, Snyder Type
Long toe, Mandibular prognathia, Arachnodactyly, Recurrent fractures, Dental crowding, Short stat... ORPHA:3063
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... ORPHA:507
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, R... OMIM:150550
Chand Syndrome
Short fifth metatarsal, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphol... ORPHA:1401
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Eosin... ORPHA:400
Retinitis Pigmentosa 39
Abnormal electroretinogram OMIM:613809
Craniofaciofrontodigital Syndrome
Osteopenia, Joint laxity, Short stature, Large for gestational age, Osteoporosis, Gingival overgr... ORPHA:363705
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... ORPHA:3258
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Gra... ORPHA:64744
Lysinuric Protein Intolerance
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Thrombocytopenia, Del... ORPHA:470
Desmosterolosis
Rhizomelia, Micrognathia, Generalized osteosclerosis, Patent ductus arteriosus, Alveolar ridge ov... OMIM:602398
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Increased circulatin... OMIM:609152
Oculoskeletodental Syndrome
Small for gestational age, Hypercalcemia, Cryptorchidism, Splenomegaly, Low anterior hairline, El... OMIM:618440
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Pancreatitis, Insulin-r... ORPHA:79083
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Thrombocytop... ORPHA:391487
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Tracheomal... OMIM:203700
Thoracomelic Dysplasia
Elbow dislocation, Abnormal fibula morphology, Genu valgum, Joint hyperflexibility, Short ribs, D... ORPHA:1803
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia ORPHA:3196
Menkes Disease
Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Micrognathia, Os... ORPHA:565
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Sparse eyelashes, Short stature, Sparse eyebrow, Alopecia of scalp, Macroorchidism, ... OMIM:618874
49,Xxxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Short stature, Down-sloping shoulders, Abnormal... ORPHA:96264
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Carious teeth, Enamel hypoplasia, Short stature, Anemia OMIM:226670
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Generalized hirsutism, Secon... ORPHA:2348
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Decreased female libido, S... ORPHA:95409
Metaphyseal Acroscyphodysplasia
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Severe short stature, ... ORPHA:1240
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Wrinkly Skin Syndrome
Osteopenia, Delayed eruption of teeth, Congenital hip dislocation, Short stature, Carious teeth, ... ORPHA:2834
Ascher Syndrome
Deviation of finger, Abnormal upper lip morphology, High palate, Hypothyroidism, Goiter ORPHA:1253
Scarf Syndrome
Craniosynostosis, Hepatocellular adenoma, Joint hyperflexibility, Short sternum, Long philtrum, E... ORPHA:3134
Geleophysic Dysplasia 1
Short palm, Osteopenia, Hepatomegaly, Short stature, Camptodactyly of finger, Coxa valga, Joint s... OMIM:231050
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Optic atrophy, Bilateral sensorineural hearing impairment, A... ORPHA:309256
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Bone pain, Anemia, Pathologic fracture, ... OMIM:230800
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Short stature, Osteomalacia, Camptodactyly of finger, Postnatal growth retarda... OMIM:309000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Arthritis, B lymphocytopenia, Failure to thrive secondary to recurrent infecti... OMIM:601457
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Trichodental Dysplasia
Odontodysplasia, Hypodontia, Conical tooth OMIM:601453
Essential Thrombocythemia
Myelofibrosis, Splenomegaly, Abnormal platelet morphology, Acute leukemia ORPHA:3318
Ovarian Dysgenesis 10
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Chst3-Related Skeletal Dysplasia
Delayed eruption of teeth, Short metacarpal, Rhizomelia, Flexion contracture, Disproportionate sh... ORPHA:263463
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Short stature, Recurrent fractures, Metaphyseal widening, Osteoporosis, Increased sus... OMIM:259770
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Hypokalemia, Hyperthyroidism, Goiter OMIM:188580
Late-Onset Junctional Epidermolysis Bullosa
Oral mucosal blisters, Carious teeth, Growth delay, Enamel hypoplasia, Anemia ORPHA:79406
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Optic atrophy, Bilateral sensorineural hearing impairment, A... ORPHA:309263
Thrombocytopenia 6
Myelofibrosis, Osteoporosis, Thrombocytopenia OMIM:616937
Primary Fanconi Renotubular Syndrome
Hypouricemia, Osteomalacia, Bicarbonaturia, Increased susceptibility to fractures, Hypophosphatem... ORPHA:3337
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Short stature, Abnormality of the dentition, Abnormality of the pancre... ORPHA:2315
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... ORPHA:2633
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Short stature, Hypophosphatemia OMIM:308990
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Hepatomegaly, Limb joint contracture, Short stature, Tapered finger, S... OMIM:301072
Spondylometaphyseal Dysplasia, A4 Type
Severe short stature, Micromelia, Limitation of joint mobility, Coxa vara, Short palm ORPHA:168555
Laron Syndrome
Limb undergrowth, Decreased serum insulin-like growth factor 1, Delayed menarche, Severe short st... OMIM:262500
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroi... ORPHA:3429
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... OMIM:202010
Hyperparathyroidism 4
Osteopenia, Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia OMIM:617343
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Thin upper lip vermilion, T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Lo... OMIM:615966
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Osteoporosis, Increased circulating ACTH level, Obesity, Hypokalemia, Abdomina... OMIM:219090
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Skeletal muscle atrophy, Generalized lymphadenopathy, Cholangitis, Neutrophilia, L... ORPHA:3260
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, Growth delay, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Dpm1-Cdg
Hepatomegaly, Tented upper lip vermilion, Sandal gap, Elevated circulating creatine kinase concen... ORPHA:79322
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentratio... OMIM:613327
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells, Recurrent si... OMIM:620282
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Peripapillary atrophy OMIM:618195
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin-resista... OMIM:604367
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Overlapping toe, Arachnodactyly, Micro... ORPHA:83617
Pseudohypoparathyroidism Type 2
Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone... ORPHA:94090
Epidermolysis Bullosa, Junctional 1A, Intermediate
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia OMIM:226650
Colchicine Poisoning
Hyponatremia, Alopecia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokal... ORPHA:31824
Tetragametic Chimerism
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... ORPHA:199310
Wrinkly Skin Syndrome
Osteopenia, Microretrognathia, Smooth philtrum, Congenital hip dislocation, Delayed eruption of t... OMIM:278250
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Joint stiffness, Disproportionate short stature, Joint hyperflexibility... ORPHA:40
Mucopolysaccharidosis, Type Vi
Delayed eruption of teeth, Epiphyseal dysplasia, Hepatomegaly, Short stature, Joint stiffness, Ca... OMIM:253200
Primary Sclerosing Cholangitis
Osteopenia, Abnormal eosinophil morphology, Hepatic fibrosis, Hypoalbuminemia, Neoplasm of the ga... ORPHA:171
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Humeror... ORPHA:2019
Distal Deletion 17Q
Aplasia/Hypoplasia of the thumb, Hepatomegaly, Abnormality of the philtrum, Short stature, Microm... ORPHA:1597
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed eruption of teeth, Short stature, Hypodontia, Delayed puberty ORPHA:1816
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Sorsby Fundus Dystrophy
Abnormal electroretinogram OMIM:136900
Familial Dysautonomia
Abnormal peritoneum morphology, Recurrent fractures, Osteolysis, Growth delay, Avascular necrosis ORPHA:1764
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Premature Aging Syndrome, Okamoto Type
Diabetes mellitus, Osteoporosis OMIM:601811
Atelosteogenesis, Type Ii
Sandal gap, Micromelia, Micrognathia, Bifid humerus, Cleft palate, Short middle phalanx of finger... OMIM:256050
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Natal tooth, Cleft palate, Abnormal mandible morphology OMIM:217150
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Broad hallux phalanx, Severe short stature, Micromelia, Joint stiffness, ... ORPHA:2249
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell ... OMIM:618987
Intellectual Disability And Myopathy Syndrome
Thin upper lip vermilion, Achilles tendon contracture, Dental malocclusion, Widely-spaced maxilla... OMIM:619719
Intellectual Developmental Disorder, Autosomal Dominant 21
Short stature, Single transverse palmar crease, Cryptorchidism, Cleft palate, Thin vermilion bord... OMIM:615502
Self-Improving Dystrophic Epidermolysis Bullosa
Oral mucosal blisters, Carious teeth, Growth delay, Enamel hypoplasia, Anemia ORPHA:79411
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental crowding, Compulsive behaviors, Abnormal repetitive mannerisms, Joint laxity, Hyperactivit... ORPHA:353281
Distal Deletion 12Q
Single transverse palmar crease, Micrognathia, High, narrow palate, Biliary atresia, Aplasia/Hypo... ORPHA:96149
Familial Glucocorticoid Deficiency
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... ORPHA:361
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Aplasia/Hypoplasia of the ribs, Mild postnatal g... ORPHA:168549
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Abnormal macrophage morphology, Calf muscle pseudohypertrophy, Achilles tendon ... ORPHA:353
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Hypoplasia of the thymus, Abnormality of b... ORPHA:861
Blue Diaper Syndrome
Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased body wei... ORPHA:94086
Cutis Laxa, Autosomal Recessive, Type Iiib
Osteopenia, Cryptorchidism, Flexion contracture, Elbow flexion contracture, Osteoporosis, Thin ve... OMIM:614438
Smith-Magenis Syndrome
Mandibular prognathia, Toe syndactyly, Failure to thrive in infancy, Tented upper lip vermilion, ... ORPHA:819
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Micrognathia, Flexion contracture, Cleft palate, Increased susceptibility to fr... OMIM:253290
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
3-Methylglutaconic Aciduria, Type V
Diaphragmatic eventration, Hypospadias, Elevated circulating aspartate aminotransferase concentra... OMIM:610198
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Micrognathia, Narrow mouth, Delayed eruption of permanent teeth, Short distal phalanx of toe, Mic... OMIM:619356
Oculodentodigital Dysplasia
Selective tooth agenesis, Cleft upper lip, Carious teeth, 4-5 finger syndactyly, Premature loss o... OMIM:164200
Schinzel-Giedion Syndrome
Micrognathia, Abnormality of the gingiva, Tibial bowing, Short philtrum, High palate, Hepatoblast... ORPHA:798
Pallister-Hall-Like Syndrome
Toe syndactyly, Median cleft lip, Short stature, Micromelia, Micrognathia, Postaxial hand polydac... OMIM:241800
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Undetectable visual evoked potentials OMIM:619051
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... OMIM:212050
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... ORPHA:2791
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... OMIM:102700
Occipital Horn Syndrome
Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomal... ORPHA:198
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Neutropenia, Absent circulating B cells, Abnormal T cell morphology OMIM:613501
Retinitis Pigmentosa
Hypoplasia of penis, Sensorineural hearing impairment, Abnormal electroretinogram, Optic atrophy,... ORPHA:791
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Dental malocclusion, Short first metatarsal, Thick vermilion ... OMIM:601957
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated circulating alpha-fetoprotein concentration OMIM:615970
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Osteopenia, Elevated hepatic transaminase, Tented upper lip vermilion, Jaundice, Obesity, Gingiva... OMIM:614231
48,Xyyy Syndrome
Thick lower lip vermilion, Irregularly spaced teeth, Radioulnar synostosis, High palate, Long phi... ORPHA:99329
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormal electroretinogram, Optic atrophy ORPHA:1574
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Postaxial hand polydactyly, Multinodular goiter, Triphalangeal thumb ORPHA:2091
Orofaciodigital Syndrome Iii
Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxial foot polydactyly, Shor... OMIM:258850
Ravine Syndrome
Failure to thrive, Abnormal auditory evoked potentials, Decreased body weight ORPHA:99852
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the ovary, Hyperuricemia, Decreased proportion of CD4-p... ORPHA:543
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Premature Ovarian Failure 8
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormal electroretinogram, Optic atrophy ORPHA:2246
Thyroid Cancer, Nonmedullary, 1
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter OMIM:188550
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... OMIM:617565
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
4H Leukodystrophy
Delayed eruption of teeth, Short stature, Abnormality of the dentition, Hypodontia, Delayed puberty ORPHA:289494
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Grange Syndrome
Syndactyly, Patent ductus arteriosus, Increased susceptibility to fractures, Short palm ORPHA:79094
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemi... OMIM:308240
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Short stature, Single transverse palmar crease, Adducted thumb, Hydrocele testis, Notched primary... OMIM:620062
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Joint contracture of the 5th finger, Micro... OMIM:602782
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Cleft upper lip, Micrognathia, Hypoplasia of the radiu... OMIM:602418
Difference Of Sex Development-Intellectual Disability Syndrome
Reduced bone mineral density, Downturned corners of mouth, Genu valgum, Thin vermilion border, Hy... ORPHA:2983
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatic adenocarcinoma, Abnormality of the dentition, Supernumerary tooth,... ORPHA:733
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Dental crowding, Tapered finger, Wide mouth, High palate, Long philtrum OMIM:618825
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... OMIM:191440
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Temporomandibular joint ... OMIM:164900
Liang-Wang Syndrome
Thin upper lip vermilion, Diastema, Wide nasal bridge, Gingival overgrowth, Downturned corners of... OMIM:618729
X-Linked Hypohidrotic Ectodermal Dysplasia
Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Microdontia,... ORPHA:181
Nance-Horan Syndrome
Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incis... OMIM:302350
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... ORPHA:169154
Familial Adenomatous Polyposis 1
Carious teeth, Supernumerary tooth, Eruption failure, Odontoma, Hepatoblastoma OMIM:175100
Thyroid Dyshormonogenesis 1
Macroglossia, Hypothyroidism, Goiter OMIM:274400
Thrombocytopenia-Absent Radius Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the h... ORPHA:3320
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Micrognathia, Advanced eruption of teeth, Finger syndactyly, Rhizome... ORPHA:818
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Single transverse palmar crease, Adrenal hypoplasia, Micrognathia, Absent ... OMIM:308050
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Short stature, Elbow dislocation, Absent radius, ... OMIM:171480
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Small for gestational age, Decreased response to growth hormone stimulation test, Failure to thri... ORPHA:268261
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Abnormal dental morphology, Short stature, Open bite, Dental malocclusion,... ORPHA:3079
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto... OMIM:614700
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Micrognathia, High, narrow palate, Dermatoglyphic ridges abnormal, Reduced bone miner... ORPHA:99413
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscle fiber atrophy, Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, A... ORPHA:258
Mosaic Monosomy X
Osteopenia, Micrognathia, High, narrow palate, Dermatoglyphic ridges abnormal, Reduced bone miner... ORPHA:99228
Monosomy X
Osteopenia, Micrognathia, High, narrow palate, Dermatoglyphic ridges abnormal, Reduced bone miner... ORPHA:99226
Turner Syndrome
Osteopenia, Micrognathia, High, narrow palate, Dermatoglyphic ridges abnormal, Reduced bone miner... ORPHA:881
Cartilage-Hair Hypoplasia
Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Abnormal bone ossification, ... ORPHA:175
Emanuel Syndrome
Delayed eruption of teeth, Broad jaw, Multiple joint contractures, Congenital hip dislocation, De... ORPHA:96170
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... ORPHA:91355
Stuve-Wiedemann Syndrome 2
Bowing of the long bones, Short long bone, Camptodactyly, Intrauterine growth retardation, Thromb... OMIM:619751
Anaplastic Thyroid Carcinoma
Weight loss, Anaplastic thyroid carcinoma, Dysphagia, Nodular goiter, Goiter ORPHA:142
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia OMIM:617441
Schimke Immuno-Osseous Dysplasia
Neutropenia, Microdontia, Short stature, Abnormal primary molar morphology, Decreased proportion ... ORPHA:1830
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Intrauterine growth retardation, Recurrent fractures OMIM:620368
Polycythemia Vera
Myelofibrosis, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leu... ORPHA:729
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Short stature, Tarsal synostosis, Micromelia, A... ORPHA:2639
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing,... OMIM:223800
Atypical Werner Syndrome
Sclerosis of hand bone, Micrognathia, Fasting hyperinsulinemia, Reduced bone mineral density, Fin... ORPHA:79474
Chromosome 13Q33-Q34 Deletion Syndrome
Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Overlapping toe, Smal... OMIM:619148
Blepharophimosis-Impaired Intellectual Development Syndrome
Joint laxity, Thin upper lip vermilion, Exaggerated cupid's bow, Tapered finger, Delayed skeletal... OMIM:619293
Kabuki Syndrome 2
Joint laxity, Natal tooth, Short stature, Micrognathia, Postnatal growth retardation, Lower lip p... OMIM:300867
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Dental crowding, Persistence of primary teeth, Overweight, Patent ductus arteriosus, Persistence ... OMIM:619769
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Wide distal femoral metaphysis, Postnatal growth retardation, Po... OMIM:269150
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... OMIM:618728
Den Hoed-De Boer-Voisin Syndrome
Smooth philtrum, Delayed eruption of teeth, Sandal gap, Overweight, Carious teeth, Small hand, 2-... OMIM:619229
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... ORPHA:79102
Thyroid Lymphoma
Hyperthyroidism, Dysphagia, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Recurrent sinusitis, Decreased proportion of C... OMIM:615518
Carney Complex
Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, ... ORPHA:1359
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Oral ulcer, Leukopenia, Lymphopenia, Thrombocytopenia OMIM:301080
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Decreased cranial base ossifica... OMIM:151210
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p... OMIM:274000
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hyperparathyroidism, Bone cyst, Hypercalcemia, Anemia ORPHA:2668
Bardet-Biedl Syndrome
Medial flaring of the eyebrow, Finger syndactyly, Hypoplasia of penis, Low-set, posteriorly rotat... ORPHA:110
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Follicular hyperplasia, Splen... OMIM:619381
Thyrocerebrorenal Syndrome
Euthyroid goiter, Thrombocytopenia ORPHA:3327
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Dysphagia, Weight loss, Hyperhidrosis, Pheochromocytoma, Elevated ci... ORPHA:1332
Hypoparathyroidism, Familial Isolated, 2
Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemia, Hypocalcemic se... OMIM:618883
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow... OMIM:200600
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Vertebral hypoplasia, Short metacarpal, Radial bow... OMIM:108720
Mohr-Tranebjaerg Syndrome
Increased susceptibility to fractures OMIM:304700
Beta-Mercaptolactate Cysteine Disulfiduria
Sandal gap, Arachnodactyly, Micromelia, Short stature, Obesity, Genu valgum, Joint hyperflexibili... ORPHA:1035
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Gardner Syndrome
Neoplasm of the pancreas, Abnormality of the dentition, Supernumerary tooth, Odontoma, Multiple u... ORPHA:79665
Thyrocerebroretinal Syndrome
Thrombocytopenia, Goiter OMIM:274240
Sotos Syndrome
Joint laxity, Mandibular prognathia, Accelerated skeletal maturation, High, narrow palate, Patent... OMIM:117550
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... OMIM:158330
Cartilage-Hair Hypoplasia
Sparse facial hair, Metaphyseal widening, Coxa vara, Femoral bowing, Short palm, Neutropenia, Spa... OMIM:250250
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Clinodactyly, Failure to thrive, Dec... OMIM:618048
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Accelerated skeletal maturation... OMIM:614753
Marshall Syndrome
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... OMIM:154780
Robinow Syndrome, Autosomal Recessive 2
Broad hallux, Sandal gap, Cleft soft palate, Micrognathia, Abnormality of the dentition, Short st... OMIM:618529
Cerebellar Ataxia-Hypogonadism Syndrome
Hypogonadotropic hypogonadism, Supernumerary nipple, Abnormal electroretinogram, Optic atrophy, D... ORPHA:1173
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, White eyelashes, White eyebrow, Aganglionic meg... OMIM:609136
Wilson Disease
Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalbuminemia, Hepatic steat... OMIM:277900
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Beare-Stevenson Cutis Gyrata Syndrome
Natal tooth, Overlapping toe, Craniosynostosis, Gingival overgrowth, Narrow palate, High palate, ... OMIM:123790
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... OMIM:225500
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Ac... ORPHA:424
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... OMIM:200990
Agammaglobulinemia 10, Autosomal Dominant
Recurrent sinusitis, Transient neutropenia, Absent circulating B cells OMIM:619707
Duplication Of The Pituitary Gland
Short stature, Abnormality of joint mobility, Supernumerary tooth, Abnormal pituitary gland morph... ORPHA:314621
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Osteopenia, Erosion of oral mucosa, Foot joint contracture, Abnormal circulating selenium concent... ORPHA:79408
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... ORPHA:1451
Wolf-Hirschhorn Syndrome
Micrognathia, Downturned corners of mouth, Short philtrum, Arachnodactyly, Short hallux, Cleft up... ORPHA:280
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Growth delay, High palate, Retrognathia, B lymphocytopenia OMIM:614069
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Localized osteoporosis ORPHA:199354
Gm1 Gangliosidosis
Mandibular prognathia, Short stature, Camptodactyly of finger, Joint stiffness, Splenomegaly, Gin... ORPHA:354
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Severe short stature, Arachnodactyly, Camptodactyly of finger, Exaggerated cup... ORPHA:2215
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Genetic Transient Congenital Hypothyroidism
Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Thyroi... ORPHA:226316
Mucolipidosis Iii Alpha/Beta
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Short stature, Craniosynos... OMIM:252600
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Abnormal gallbladder morphology, Neoplasm of the gallbladder... ORPHA:512
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Joint hypermob... OMIM:300990
Cornelia De Lange Syndrome 1
Proximal placement of thumb, Micrognathia, High, narrow palate, Downturned corners of mouth, Wide... OMIM:122470
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter OMIM:180295
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Congenital Disorder Of Glycosylation, Type Iiw
Hepatic steatosis, Hepatomegaly, Micrognathia, Microcytic anemia, Thrombocytopenia, Supernumerary... OMIM:619525
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased serum insulin-like growth factor 1, Rhizomelia, Ulnar deviation of the wrist, Elbow con... OMIM:618162
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Short stature, Splenomegaly, Postaxial hand polydactyly, Obesity, Cone-shaped epiph... OMIM:615630
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Micromelia, Hepatosplenomegaly OMIM:273680
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Osteoporosis, Rickets, Weight loss, Growth delay, Iron deficiency anemia, Exocrine ... ORPHA:309031
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Hepatomegaly, Osteomyelitis, Neutrophilia, Abscess, Elevated circulating C-reactive p... OMIM:612852
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Short stature, Abnormal auditory evoked potentials, Synophrys, Sensorineural h... OMIM:619260
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth OMIM:272300
Glycogen Storage Disease Ia
Hepatomegaly, Short stature, Pancreatitis, Hyperlipidemia, Osteoporosis, Gout, Growth delay, Hype... OMIM:232200
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Micromelia, Bowing of the legs, Micrognathia, Cryptorchidism, Flexion contr... ORPHA:1865
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Delayed skeletal maturation, Small hand, Retrognathia, Short foot, Spina bifida occul... ORPHA:488434
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Curly hair, Macroorchidism, Short stature, Thickened helices, Hearing impairment, Tapered finger,... OMIM:619950
Microphthalmia, Syndromic 2
2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Contracture of the p... OMIM:300166
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... ORPHA:3103
Velocardiofacial Syndrome
Hypoparathyroidism, Aggressive behavior, Cryptorchidism, Velopharyngeal insufficiency, Submucous ... OMIM:192430
Slc39A8-Cdg
Osteopenia, Abnormal blood zinc concentration, Short stature, Craniosynostosis, Failure to thrive... ORPHA:468699
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidis... OMIM:201810
Primary Biliary Cholangitis
Portal hypertension, Abnormality of the thyroid gland, Conjugated hyperbilirubinemia, Jaundice, O... ORPHA:186
Emanuel Syndrome
Broad jaw, Congenital hip dislocation, Dental crowding, Delayed eruption of primary teeth, Microg... OMIM:609029
Castleman Disease
Myelofibrosis, Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, ... ORPHA:160
Developmental And Epileptic Encephalopathy 41
Delayed eruption of teeth, Flexion contracture OMIM:617105
Congenital Erythropoietic Porphyria
Osteopenia, Hemolytic anemia, Reticulocytosis, Erythrodontia, Anisocytosis, Splenomegaly, Abnorma... ORPHA:79277
Multiple Osteochondromas
Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Abn... ORPHA:321
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Mandibuloacral Dysplasia
Dental crowding, Micrognathia, Postnatal growth retardation, Abnormal tongue morphology, Hypoplas... ORPHA:2457
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Micrognathia, Short palm, Duplication of the distal ... OMIM:268310
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thin upper lip vermilion, Thyroid lymphangiectasia, Micrognathia, Cryptorchidism, Pancreatic lymp... OMIM:235255
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Pancreatitis, Hypocalcemic ... ORPHA:405
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia, Short stature, Joint stiffness ORPHA:2871
Hypochondroplasia
Brachydactyly, Flared metaphysis, Short long bone, Short femoral neck, Disproportionate short-lim... OMIM:146000
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial p... OMIM:617866
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss, Abnormality of the tongue, Increased susceptibility to fractures ORPHA:216866
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... ORPHA:2250
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Craniosynostosis, Oral mucosal blisters, Growth delay, Smooth tongue, Enamel hypoplasia, Failure ... ORPHA:79396
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diab... ORPHA:79085
Aspartylglucosaminuria
Joint laxity, Hepatomegaly, Short stature, Vacuolated lymphocytes, Macroglossia, Neutropenia, Mac... OMIM:208400
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diab... ORPHA:435651
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Thin upper lip vermilion, Micrognathia, Cryptorchidism, Pancreatic lymphangiectasis, Splenomegaly... ORPHA:1655
Short Stature, Microcephaly, And Endocrine Dysfunction
Abnormal circulating lipid concentration, Diabetes mellitus, Short stature, Long nose, Cryptorchi... OMIM:616541
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, B lymphocytopenia, Abnormal T cell morphology OMIM:612692
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Hypertrichosis Cubiti
Severe short stature, Rhizomelia, Micromelia, Abnormality of the elbow, Joint hyperflexibility ORPHA:2220
Cockayne Syndrome Type 2
Mandibular prognathia, Hepatomegaly, Delayed eruption of primary teeth, Flexion contracture, Intr... ORPHA:90322
Momo Syndrome
Delayed eruption of teeth, Delayed skeletal maturation, Thick lower lip vermilion, Dental maloccl... OMIM:157980
Image Syndrome
Metaphyseal dysplasia, Adrenal hypoplasia, Micromelia, Cryptorchidism, Hypogonadism, Intrauterine... ORPHA:85173
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Short stature, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of ... ORPHA:2491
Pgm3-Cdg
Hemolytic anemia, Failure to thrive, Osteomyelitis, Abnormal proportion of CD8-positive T cells, ... ORPHA:443811
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Glutaric Aciduria Iii
Failure to thrive, Hyperthyroidism, Goiter OMIM:231690
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal circul... ORPHA:2238
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Short stature, Hearing ... OMIM:618150
Cardioacrofacial Dysplasia 2
Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Postax... OMIM:619143
Fg Syndrome Type 1
Dental crowding, Micrognathia, Generalized joint laxity, Fused teeth, High palate, Compulsive beh... ORPHA:93932
Dubowitz Syndrome
Delayed eruption of teeth, Syndactyly, Aplastic anemia, Short stature, Micrognathia, Carious teet... OMIM:223370
Mesomelic Dysplasia, Kantaputra Type
Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal f... ORPHA:1836
Orofaciodigital Syndrome Type 10
Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ... ORPHA:2756
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... OMIM:249700
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Tapered finger, Supernumerary tooth, Thin vermilion border, Thick vermilion border, Elliptocytosi... ORPHA:86818
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Short iliac bones, Abnormal ili... ORPHA:3003
Oculoskeletodental Syndrome
Metaphyseal dysplasia, Short stature, Abnormality of the dentition, Delayed skeletal maturation, ... ORPHA:557003
Mucopolysaccharidosis Type 4
Bowing of the long bones, Short stature, Abnormal dental enamel morphology, Coxa valga, Grayish e... ORPHA:582
Campomelic Dysplasia
Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patel... OMIM:114290
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Natal tooth, Hypoplastic scapulae, Median cleft lip, Median cleft lip and palate, H... OMIM:269860
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Micrognathia, Flexion contracture, High palate, Macrovesicular hepatic steatosis, Sho... OMIM:619127
Bleeding Disorder, Platelet-Type, 17
Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules... OMIM:187900
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Decreased serum leptin,... ORPHA:435660
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Small for gestational age, Velopharyngeal insufficiency, Non-mi... ORPHA:199302
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta OMIM:615905
Restrictive Dermopathy 1
Natal tooth, Limb joint contracture, Rocker bottom foot, Micrognathia, Ankylosis, Wide anterior f... OMIM:275210
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Blepharochalasis And Double Lip
Duplication of the upper lip, Goiter OMIM:109900
Infantile Myofibromatosis
Neoplasm of the pancreas, Hypercalcemia, Abnormal hair morphology, Bone cyst, Limitation of joint... ORPHA:2591
Hypocalcemia, Autosomal Dominant 1
Short stature, Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, I... OMIM:601198
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Thrombocytopenia, Weig... ORPHA:47
Myelofibrosis
Myelofibrosis, Splenomegaly, Myeloproliferative disorder OMIM:254450
Microcephaly-Micromelia Syndrome
Micromelia, Absent thumb, Absent radius, Craniosynostosis, Micrognathia, Humeroradial synostosis,... OMIM:251230
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... OMIM:301068
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Thin upper lip vermilion, Hip contracture, Severe short stature, Severe generalized osteoporosis,... OMIM:210730
Familial Gestational Hyperthyroidism
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... ORPHA:99819
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Natal tooth, Short stature, Hip dislocation, Growth delay, Oligodontia... OMIM:614381
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Short stature,... OMIM:614800
Seckel Syndrome 5
Short stature, Selective tooth agenesis, Micrognathia, Delayed skeletal maturation, Cleft palate,... OMIM:613823
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Thrombocytopenia,... ORPHA:906
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Short stature, Abnormality of the dentition, 2-3 toe syndactyly, Thin vermilion border, Lymphopenia ORPHA:391307
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Short lingual frenulum, Short stature... OMIM:614091
Kleefstra Syndrome 1
Mandibular prognathia, U-Shaped upper lip vermilion, Natal tooth, Persistence of primary teeth, P... OMIM:610253
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Micrognathia... OMIM:212780
Metaphyseal Anadysplasia 2
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... OMIM:613073
8P Inverted Duplication/Deletion Syndrome
Micrognathia, Long fingers, High, narrow palate, Hip dislocation, Abnormality of dental eruption,... ORPHA:96092
Trichodermodysplasia-Dental Alterations Syndrome
Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Abnormal dental morphology, Supernume... ORPHA:3353
Andersen-Tawil Syndrome
Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Short statu... ORPHA:37553
Spinocerebellar Ataxia-Dysmorphism Syndrome
Short stature, Reduced bone mineral density, Downturned corners of mouth, Joint hyperflexibility,... ORPHA:1185
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hyperextensibility of the finger joints, Thin upper lip vermilion, Metatarsus adductus, Short toe... ORPHA:3041
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Micrognathia, High palate, Compulsive behaviors, Abnormal repetitive mannerisms,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Micrognathia, High palate, Compulsive behaviors, Abnormal repetitive mannerisms,... ORPHA:353277
Immunodeficiency 33
Delayed eruption of teeth, Hypodontia, Conical tooth OMIM:300636
Spondyloepiphyseal Dysplasia, Kimberley Type
Proportionate short stature, Osteoarthritis, Micromelia ORPHA:93283
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia, Recurrent sinusitis ORPHA:217390
4Q21 Microdeletion Syndrome
Toe syndactyly, Micromelia, Abnormality of the dentition, Small hand, Short foot, Downturned corn... ORPHA:238750
Glutamine Deficiency, Congenital
Hypoglutaminemia, Micromelia, Flexion contracture, Wide nasal bridge, Hyperammonemia, Thin vermil... OMIM:610015
Myoectodermal Gonadal Dysgenesis Syndrome
Clitoral hypoplasia, Cutaneous finger syndactyly, Short palm, Agenesis of corpus callosum, Access... OMIM:618419
Zimmermann-Laband Syndrome 1
Mandibular prognathia, Hyperextensibility of the finger joints, Hepatomegaly, Delayed eruption of... OMIM:135500
Doors Syndrome
Short lingual frenulum, Abnormal finger morphology, Downturned corners of mouth, Widely spaced te... ORPHA:79500
Kleefstra Syndrome Due To A Point Mutation
Natal tooth, Short stature, Large for gestational age, Tapered finger, Abnormality of the dentiti... ORPHA:261652
Craniosynostosis And Dental Anomalies
Hallux valgus, Mandibular prognathia, Delayed eruption of teeth, Broad hallux, Dental crowding, S... OMIM:614188
X-Linked Intellectual Disability Due To Gria3 Mutations
Mandibular prognathia, Joint laxity, Short stature, Slender build, Cryptorchidism, Narrow palate,... ORPHA:364028
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Patent ductus arteriosus, Flexio... OMIM:616867
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... OMIM:243150
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia, Recurrent sinusitis OMIM:618969
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Occipital Horn Syndrome
Joint laxity, Short humerus, Decreased circulating ceruloplasmin concentration, Decreased circula... OMIM:304150
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cachexia, Anorexia, Xerostomia, Hypokalemia, Nail dystrophy, Hypocalcemia, Hypomagnesem... OMIM:175500
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly,... OMIM:206920
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Cooper-Jabs Syndrome
Short stature, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Reduced bone m... ORPHA:1488
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Immunodeficiency 36 With Lymphoproliferation
Short stature, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Growth delay, Increase... OMIM:616005
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... OMIM:180700
Jeune Syndrome
Toe syndactyly, Short stature, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly... ORPHA:474
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Stormorken Syndrome
Howell-Jolly bodies, Short stature, Asplenia, Anemia, Short philtrum, Hypoplastic spleen, Thrombo... OMIM:185070
Campomelia, Cumming Type
Hepatomegaly, Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Pancreatic cys... ORPHA:1318
Hepatoerythropoietic Porphyria
Osteopenia, Hemolytic anemia, Erythrodontia, Splenomegaly, Abnormal circulating porphyrin concent... ORPHA:95159
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Sinusitis, Thrombocytopenia, Sple... OMIM:617591
Kagami-Ogata Syndrome
Hepatomegaly, Micrognathia, Hypoplasia of the maxilla, Long fingers, Coxa valga, Flexion contract... OMIM:608149
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Short stature, Micrognathia, Hypoplastic ilia, Patell... ORPHA:85201
Immunodeficiency 62
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... OMIM:618459
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... OMIM:619846
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Septic ar... OMIM:617780
Oligocone Trichromacy
Abnormal electroretinogram ORPHA:75378
Trisomy 10P
Absent gallbladder, Thumb contracture, Decreased muscle mass, Small for gestational age, Posterio... ORPHA:171929
Peroxisome Biogenesis Disorder 1A (Zellweger)
Adrenal hypoplasia, Abnormal electroretinogram, Ulnar deviation of the hand or of fingers of the ... OMIM:214100
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly ORPHA:2266
Alg6-Cdg
Puberty and gonadal disorders, Jaundice, Shortening of all distal phalanges of the fingers, Incre... ORPHA:79320
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz... OMIM:618019
Leukocyte Adhesion Deficiency Type Ii
Mandibular prognathia, Severe periodontitis, Microcytic anemia, Deep philtrum, Premature loss of ... ORPHA:99843
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Osteopenia, High, narrow palate, Generalized joint laxity, Distal joint laxity, Elbow flexion con... ORPHA:1900
Cutis Laxa, Autosomal Dominant 3
Osteopenia, Joint laxity, Postnatal growth retardation, Hip dislocation, Intrauterine growth reta... OMIM:616603
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, Oligoarthritis, Growth delay, T lymphocytopenia, Decreased proporti... OMIM:619510
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Abnormal vagina morphology, Hypercalcemia, Anemia ORPHA:2123
Tremor-Ataxia-Central Hypomyelination Syndrome
Delayed eruption of teeth, Short stature, Oligodontia, Hypodontia, Delayed puberty ORPHA:447896
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Short stature, Growth delay, Thick vermilion border, High palate, Shor... OMIM:615866
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Microretrognathia, Joint laxity, Scapular winging, Short stature, Single transverse palmar crease... OMIM:618870
Cowden Syndrome
Short stature, Follicular thyroid carcinoma, Enlarged polycystic ovaries, Abnormality of the thyr... ORPHA:201
Macrocephaly/Autism Syndrome
Joint laxity, Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, High palate, Long p... OMIM:605309
Myotonic Dystrophy 2
Frontal balding, Oligozoospermia, Decreased circulating total IgM, Hypogonadism, Type II diabetes... OMIM:602668
Pendred Syndrome
Hyperparathyroidism, Hypothyroidism, Thyroid carcinoma, Goiter ORPHA:705
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Elbow d... ORPHA:968
Charge Syndrome
Delayed eruption of teeth, Short stature, Cleft upper lip, Abnormal soft palate morphology, Postn... ORPHA:138
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density, Bone pain OMIM:259900
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... ORPHA:2634
Alpha-Heavy Chain Disease
Splenomegaly, Alopecia, Hypocalcemia, Anemia ORPHA:100025
Bardet-Biedl Syndrome 1
Diabetes mellitus, Dental crowding, Nephrogenic diabetes insipidus, High, narrow palate, Abnormal... OMIM:209900
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Mandibular prognathia, Microretrognathia, Thin upper lip vermilion, Toe syndactyly, Single transv... ORPHA:459070
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Overweight, Abnormality of pattern visual evoked potentials, Obesity, Ge... ORPHA:2822
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Hypoplasia of the maxilla, Diastem... OMIM:619142
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly, Recurrent fractures, Elevated circulating aspartate aminotransferase concentration,... OMIM:606056
Dermatitis Herpetiformis
Bone pain, Recurrent fractures, Microcytic anemia ORPHA:1656
Adrenomyodystrophy
Short stature, Primary adrenal insufficiency, Reduced bone mineral density, Failure to thrive, He... ORPHA:977
Oculocutaneous Albinism Type 1A
Abnormality of visual evoked potentials ORPHA:79431
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Syndactyly, Enamel hypoplasia, Failure to thrive OMIM:226700
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Sjogren-Larsson Syndrome
Enamel hypoplasia, Flexion contracture, Short stature OMIM:270200
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G... OMIM:300106
Ataxia-Telangiectasia
Elevated hepatic transaminase, Lymphopenia, Short stature, Delayed puberty, Failure to thrive, Ap... ORPHA:100
Acromesomelic Dysplasia 4
Mandibular prognathia, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, R... OMIM:619636
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Short stature, Abnormal auditory evoked potentials, Coxa valga, Sensorineural hearing impairment,... OMIM:109120
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abnormal calcif... OMIM:271665
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Short stature, Carious teeth, Cryptorchidism, Thrombocytope... OMIM:305000
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Enamel hypoplasia, Thin upper lip vermilion OMIM:613576
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Short stature, Abscess, Perianal abscess, Splenomegaly, Lym... OMIM:618935
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Broad long bones, Short stature, Abnormal metatarsal morphology, Narrow philtrum, Thick lower lip... ORPHA:163654
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... OMIM:275200
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia,... ORPHA:96334
Autosomal Dominant Progressive External Ophthalmoplegia
Hyperthyroidism, Diabetes mellitus, Elevated circulating creatine kinase concentration, Osteoporo... ORPHA:254892
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Micromelia, Precocious puberty, Disproportionate short stature, Wide nasal bridge, Coxa vara, Too... ORPHA:2637
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Short stature, Micromelia, Co... ORPHA:63446
Prolidase Deficiency
Hepatomegaly, Arachnodactyly, Micrognathia, Carious teeth, Splenomegaly, Reduced bone mineral den... ORPHA:742
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Micromelia, Micrognathi... ORPHA:440354
Xylt1-Cdg
Joint laxity, Hepatomegaly, Short stature, Coxa valga, Accelerated skeletal maturation, Flared me... ORPHA:370930
Progressive Cone Dystrophy
Abnormal electroretinogram ORPHA:1871
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ... OMIM:256810
Degcags Syndrome
Osteopenia, Synophrys, Abnormal electroretinogram, Low anterior hairline, Premature graying of ha... OMIM:619488
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Mandibular prognathia, Small for gestational age, Short stature, High palate, Advanced eruption o... OMIM:262190
Scarf Syndrome
Short sternum, Lambdoidal craniosynostosis, Long philtrum, Coronal craniosynostosis, Enamel hypop... OMIM:312830
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Macrocytic anemia, Alopecia, Hypergonadotropic hypogonadism, Autoimmune thrombocytope... ORPHA:227990
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Splenomegaly, Sensorineural hearing impairment, Vacuolated lymphocytes, Low anterio... OMIM:248500
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Small for gestational age, Single transverse palmar crease, Flexion con... ORPHA:79243
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Osteopenia, Joint laxity, Micrognathia, Dental malocclusion, Localized hypoplasia of dental ename... ORPHA:73223
Mucolipidosis Type Ii
Hip contracture, Short stature, Craniosynostosis, Limited wrist movement, Postnatal growth retard... ORPHA:576
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Kinsship Syndrome
Osteopenia, Mandibular prognathia, Thin upper lip vermilion, Short stature, Single transverse pal... OMIM:619297
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Oral ulcer, Thrombocytopenia OMIM:616744
Nievergelt Syndrome
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Mesomelic short stature, Talipes equinovar... OMIM:163400
Monosomy 13Q34
Metrorrhagia, Hypercalcemia, Micrognathia, Obesity, Horizontal eyebrow ORPHA:96168
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Myelofibrosis, Curly hair, Sparse scalp hair, Joint laxity, Short stature, Posteriorly rotated ea... OMIM:607721
Primrose Syndrome
Bilateral cryptorchidism, Hypoplasia of the maxilla, Flexion contracture, Reduced bone mineral de... OMIM:259050
Cranioectodermal Dysplasia 2
Cholangitis, Micrognathia, Fused teeth, High palate, Widely spaced teeth, Microdontia, Joint laxi... OMIM:613610
Severe Generalized Junctional Epidermolysis Bullosa
Erosion of oral mucosa, Abnormal oral mucosa morphology, Abnormal fingertip morphology, Osteoporo... ORPHA:79404
Autoinflammatory Disease, Systemic, X-Linked
Osteomyelitis, Conical tooth, Hepatosplenomegaly, B lymphocytopenia, Neutropenia OMIM:301081
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Hurthle cell thyroid adenoma, Para... OMIM:145001
Osteogenesis Imperfecta, Type Vi
Joint laxity, Protrusio acetabuli, Coxa vara, Increased susceptibility to fractures OMIM:613982
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Dys... ORPHA:94093
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Large for gestational age, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger, H... OMIM:280000
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Autoimmune hypoparathyroidism, Xerostomia, Leukopenia, Hashimoto thyroiditis, Alopeci... ORPHA:227982
Tooth Agenesis, Selective, 3
Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia OMIM:604625
Blue Cone Monochromatism
Abnormal electroretinogram ORPHA:16
Microphthalmia, Lenz Type
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... ORPHA:568
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Conductive hearing impairment, Intrauterine growth retardation, Agenesis o... OMIM:194190
Leber Congenital Amaurosis
Abnormal optic disc morphology, Abnormal electroretinogram, Abnormality of neuronal migration, He... ORPHA:65
Wiedemann-Rautenstrauch Syndrome
Flexion contracture, Hypoplasia of the thymus, Generalized amyotrophy, Small earlobe, Agenesis of... OMIM:264090
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Retinal Cone Dystrophy 1
Abnormal electroretinogram OMIM:180020
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... ORPHA:85166
Mend Syndrome
Broad hallux, Overlapping toe, Short stature, Abnormal auditory evoked potentials, Cryptorchidism... ORPHA:401973
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Carious teeth, Enamel hypoplasia, Thick vermilion border, Hepatitis ORPHA:363523
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hyperphosphatemia, Hypocalcemia, Reduced bone mineral density ORPHA:428
Congenital Disorder Of Glycosylation, Type Ig
Thin upper lip vermilion, Small scrotum, Small for gestational age, Hypospadias, Cryptorchidism, ... OMIM:607143
Kleefstra Syndrome
Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's... ORPHA:261494
Familial Mediterranean Fever
Hepatomegaly, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Arthritis, Amyloid... OMIM:249100
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Single transverse palmar crease, Micromelia, Cleft maxillary alveola... ORPHA:508488
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural ... OMIM:612260
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Rubinstein-Taybi Syndrome 1
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Flexion contractur... OMIM:180849
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, External ge... ORPHA:177907
Marfan Syndrome
Osteopenia, Arthralgia/arthritis, Arachnodactyly, Dental crowding, Limited elbow movement, Microg... ORPHA:558
Congenital Disorder Of Deglycosylation 1
Hepatomegaly, Single transverse palmar crease, Elevated circulating alpha-fetoprotein concentrati... OMIM:615273
Agammaglobulinemia 2, Autosomal Recessive
Absent circulating B cells, Abnormal T cell morphology OMIM:613500
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Sinusitis, B lymphocytopenia ORPHA:70593
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Mandibular prognathia, Joint laxity, Rhizomelia, Metaphyseal widening, Short finger, Mesomelia, M... OMIM:612813
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Severe short stature, Micromelia, Increased skull ossification, Intrauterine gr... ORPHA:1422
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Hypopigmentation of hair, Foot dorsiflex... OMIM:214500
Neuronal Intestinal Pseudoobstruction
Natal tooth, Patent ductus arteriosus ORPHA:99811
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Downturned corners of mouth, Widely spaced teeth, Everted lower lip vermilion, Advanced eruption ... OMIM:617865
Orofaciodigital Syndrome Type 1
Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t... ORPHA:2750
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Elevated hemoglobin A1c, Anterior pituitary hypoplasia, Short stat... OMIM:616113
Recessive Dystrophic Epidermolysis Bullosa Inversa
Oral mucosal blisters, Carious teeth, Growth delay, Enamel hypoplasia, Anemia ORPHA:79409
Paget Disease Of Bone 6
Osteoarthritis, Bone pain, Recurrent fractures OMIM:616833
Hereditary Fructose Intolerance
Hepatomegaly, Jaundice, Hypermagnesemia, Growth delay, Hyperuricemia, Hypophosphatemia ORPHA:469
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Oral mucosal blisters, Carious teeth, Growth delay, Enamel hypoplasia, Anemia ORPHA:79410
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Cholangitis, Leukocytosis, Decreased proportion of class-switched me... OMIM:619652
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Achondroplasia
Rhizomelia, Bowing of the legs, Short proximal phalanx of finger, Hip joint hypermobility, Dispro... ORPHA:15
Meckel Syndrome, Type 9
Limb undergrowth, Talipes equinovarus OMIM:614209
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Microretrognathia, Multiple prenatal fractures, Patent ductus arteriosus, Flexion contracture, Hi... OMIM:616866
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Acute myeloid leukemia, Myelofibrosis, Chronic myelomonocytic leukemia OMIM:616604
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Severe short stature, Micromelia, Micrognathia, Cryptorchidism, Wide na... OMIM:224410
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... ORPHA:331206
Immunodeficiency 57 With Autoinflammation
Perianal abscess, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Reduced natural killer... OMIM:618108
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Enamel hypoplasia, Retrognathia, High palate OMIM:617915
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Brachydactyly, Sandal gap, Broad hallux, Conical tooth, Persistence of primary teeth, Dental malo... OMIM:618727
Ctcf-Related Neurodevelopmental Disorder
Osteopenia, Single transverse palmar crease, Short philtrum, Joint contracture of the 5th finger,... ORPHA:363611
Lipodystrophy, Congenital Generalized, Type 2
Mandibular prognathia, Cystic angiomatosis of bone, Acute pancreatitis, Hypertriglyceridemia, Cli... OMIM:269700
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Hypoplasia of the radius, Patel... OMIM:617604
Osteogenesis Imperfecta, Type Xx
Mandibular prognathia, Tented upper lip vermilion, Multiple prenatal fractures, Narrow palate, Ag... OMIM:618644
Opitz Gbbb Syndrome
Natal tooth, Short stature, Craniosynostosis, Micrognathia, Cleft lip, Patent ductus arteriosus, ... ORPHA:2745
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Short stature, Large tarsal bones, Micrognathia, Flexion contracture, Flare... OMIM:215150
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Iron deficiency anemia, Hypoalbuminemia, Hypocalcemia, Neutrope... ORPHA:37042
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves, EEG with persistent abnormal rhythmic activity, Astrocytosis, A... ORPHA:282166
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Mandibular prognathia, Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia ORPHA:2252
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Generalized amyloid deposition, Cholestasis OMIM:105200
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Ankle flexion contracture, Micrognathia OMIM:617802
Adamantinoma
Pathologic fracture, Bone pain ORPHA:55881
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula... OMIM:218700
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Oral mucosal blisters, Flexion contracture, Growth delay, Narrow mouth, Enamel hypoplasia, Anemia OMIM:226600
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati... OMIM:250220
Microlissencephaly-Micromelia Syndrome
Hypoparathyroidism, 11 pairs of ribs, Bilateral single transverse palmar creases, Micromelia, Abn... ORPHA:50810
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Microme... ORPHA:1908
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Advanced eruption of teeth,... OMIM:615873
Kohlschutter-Tonz Syndrome
Enamel hypoplasia, Amelogenesis imperfecta OMIM:226750
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Splenomegaly, Abnormal fi... ORPHA:3035
Amelogenesis Imperfecta, Type Ik
Enamel hypoplasia, Amelogenesis imperfecta OMIM:620104
Lipodystrophy, Congenital Generalized, Type 1
Mandibular prognathia, Cystic angiomatosis of bone, Acute pancreatitis, Hypertriglyceridemia, Dia... OMIM:608594
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Cleft palate, Joint contractur... OMIM:247200
Oculocerebral Hypopigmentation Syndrome, Preus Type
Arachnodactyly, Short stature, Abnormality of neutrophils, Reduced bone mineral density, High pal... ORPHA:2720
Robinow Syndrome, Autosomal Dominant 3
Micrognathia, Downturned corners of mouth, Short phalanx of finger, Syndactyly, Short stature, Cr... OMIM:616894
Incontinentia Pigmenti
Delayed eruption of teeth, Short stature, Eosinophilia, Conical tooth, Leukocytosis, Oligodontia,... OMIM:308300
3Mc Syndrome 2
Prominence of the premaxilla, Limited elbow movement, Craniosynostosis, Cleft upper lip, Postnata... OMIM:265050
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Median cleft lip, Short stature, Accessory oral frenulum, Postaxial polydactyly, Sp... OMIM:617088
Restrictive Dermopathy
Osteopenia, Natal tooth, Multiple joint contractures, Camptodactyly of finger, Micrognathia, Pate... ORPHA:1662
Cerebrotendinous Xanthomatosis
Cholelithiasis, Abnormal circulating cholesterol concentration, Osteoporosis OMIM:213700
Bothnia Retinal Dystrophy
Abnormal electroretinogram OMIM:607475
Osteogenesis Imperfecta, Type Xv
Bowing of limbs due to multiple fractures, Short stature, Recurrent fractures, Joint hypermobility OMIM:615220
Hyperparathyroidism 1
Primary hyperparathyroidism, Hypercalcemia OMIM:145000
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monodactyly, Patellar hypoplasi... OMIM:609945
Microphthalmia, Syndromic 1
Syndactyly, Dental crowding, Abnormal palmar dermatoglyphics, Cleft upper lip, Cryptorchidism, Hi... OMIM:309800
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Cholangitis, Short metatarsal, Hepatic fibrosis, Clinodactyly of the 5th finger, Shor... OMIM:266920
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormal electroretinogram, Facial palsy ORPHA:2743
Intellectual Developmental Disorder, Autosomal Dominant 54
Small for gestational age, Dental crowding, Delayed eruption of primary teeth, Short stature, Gro... OMIM:617799
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:225250
Williams Syndrome
Osteopenia, Elevated circulating creatine kinase concentration, Micrognathia, Microdontia, Clinod... ORPHA:904
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Micrognathia, Cryptorchidism, Elevated circulating thyroid-st... OMIM:618183
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Downturned corners of mouth, Short philtrum, Premature loss of teeth, Hepatic steatos... ORPHA:3455
Double Outlet Right Ventricle
Hypoparathyroidism, Submucous cleft hard palate, Cleft palate, Coarctation of aorta, Hypocalcemia... ORPHA:3426
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 5th finger, Thin upper lip vermilion, Dental crowding, Short statur... ORPHA:261323
Apert Syndrome
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye... ORPHA:87
Alg9-Cdg
Microretrognathia, Hepatomegaly, Smooth philtrum, Thin upper lip vermilion, Rhizomelia, Micrognat... ORPHA:79328
Meckel Syndrome, Type 1
Micrognathia, Asplenia, Lobulated tongue, Accessory spleen, Syndactyly, Malformation of the hepat... OMIM:249000
Idiopathic Trachyonychia
Amyloidosis, Patchy alopecia, Nail dystrophy, Autoimmune thrombocytopenia ORPHA:79153
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Geleophysic Dysplasia 3
Hepatomegaly, Short stature, Limited elbow movement, Limited wrist movement, Wide nasal bridge, S... OMIM:617809
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hyperparathyroidism, Failure to thrive, Hypercalcemia OMIM:239199
Endocrine-Cerebroosteodysplasia
Single transverse palmar crease, Micromelia, Adrenal hypoplasia, Micrognathia, Preaxial polydacty... OMIM:612651
Kyphoscoliotic Ehlers-Danlos Syndrome
Osteopenia, Arachnodactyly, Short stature, Abnormality of the hand, Micrognathia, Dislocated wris... ORPHA:536545
Cerebellar-Facial-Dental Syndrome
Infancy onset short-trunk short stature, Severe short stature, Foot joint contracture, Single tra... ORPHA:444072
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Enamel hypoplasia, Short stature, Hypodontia OMIM:616029
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Down-sloping shoulders, Synophrys, Abnormal electroretinogram,... ORPHA:1390
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Lethal Congenital Contracture Syndrome 10
Stiff neck, Micrognathia, Narrow palate, Femoral bowing, Macroglossia, Short long bone, Hypoplasi... OMIM:617022
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... OMIM:616367
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Abnormal electroretinogram ORPHA:231183
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Joint laxity, Arachnodactyly, Dental crowding, Osteoporosis, Talipes equinovarus, Pal... OMIM:225400
Vipoma
Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone c... ORPHA:97282
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Bowing of the legs, Metaphyseal widening, Squared iliac... OMIM:608728
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, O... OMIM:607626
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Cerebrocostomandibular Syndrome
Short humerus, Congenital hip dislocation, Calcaneal epiphyseal stippling, Cleft soft palate, Mic... OMIM:117650
Congenital Factor Vii Deficiency
Ovarian cyst, Menorrhagia, Gingival bleeding, Joint hemorrhage ORPHA:327
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placemen... ORPHA:435638
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Cryptorc... ORPHA:3144
Snijders Blok-Campeau Syndrome
Joint laxity, Taurodontia, High palate, Widely spaced teeth, Enamel hypoplasia OMIM:618205
Khan-Khan-Katsanis Syndrome
Failure to thrive, Tented upper lip vermilion, Short stature, Patent ductus arteriosus after prem... OMIM:618460
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Micrognathia, Cryptorch... ORPHA:2879
Usher Syndrome Type 1
Abnormal cochlea morphology, Sensorineural hearing impairment, Abnormal electroretinogram ORPHA:231169
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Conical tooth, Micrognathia, Supernumerary tooth, Wide nasal bridge, Widely spaced teeth, Hypodon... ORPHA:90024
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Mandibular prognathia, Joint laxity, Rhizomelia, Mesomelia, Broad thumb, Brachydactyly ORPHA:171866
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Osteopenia, Hypertriglyceridemia, Tented upper lip vermilion, Hypercalcemia, ... ORPHA:369837
Acrofrontofacionasal Dysostosis
Short stature, Camptodactyly of finger, Micromelia, Non-midline cleft lip, Cleft palate, High pal... ORPHA:1784
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Brain abscess, Severe short stature, Rhizomelia, Wide anterior fontanel, Disproportionate short s... OMIM:616482
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-4 finger syndactyly, Conical tooth, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous... OMIM:613573
Icf Syndrome
Short stature, Abnormality of neutrophils, Protruding tongue, Micrognathia, Macroglossia, Lymphop... ORPHA:2268
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormal electrooculogram OMIM:179840
Parathyroid Carcinoma
Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia OMIM:608266
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Coffin-Siris Syndrome
Joint laxity, Delayed eruption of teeth, Thin upper lip vermilion, Postnatal growth retardation, ... ORPHA:1465
Pachyonychia Congenita
Natal tooth, Angular cheilitis, Advanced eruption of teeth, Failure to thrive, Oral leukoplakia, ... ORPHA:2309
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Mandibular prognathia, Tented upper lip vermilion, Tapered finger, Long fingers, Calcaneovalgus d... ORPHA:521445
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Hepatitis, Hepatosplenomegaly, Failure to thrive secondary to recurrent infections,... ORPHA:169160
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing, Lung abscess, B lymphocytopenia, Reduced natural killer ce... OMIM:241600
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Night Blindness, Congenital Stationary, Type 1C
Abnormal electroretinogram OMIM:613216
Acromesomelic Dysplasia 1
Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the rad... OMIM:602875
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Absent brainstem auditory responses, Skeletal muscle atrophy, Scapular wingi... ORPHA:101085
Retinitis Pigmentosa 54
Abnormal electroretinogram OMIM:613428
Hypoplasminogenemia
Cervicitis, Decreased level of plasminogen, Gingival overgrowth, Gingivitis, Periodontitis, Abnor... ORPHA:722
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Prolonge... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Prolonge... ORPHA:529799
Immunodeficiency 23
Hemolytic anemia, Failure to thrive, Eosinophilia, Abscess, High palate, Neutropenia, Lymphopenia... OMIM:615816
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture OMIM:615883
Retinitis Pigmentosa 50
Optic disc pallor, Abnormal electroretinogram OMIM:613194
Arthrogryposis, Distal, Type 5
Decreased muscle mass, Arachnodactyly, Short stature, Limited wrist extension, Abnormal electrore... OMIM:108145
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova... OMIM:601356
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Thanatophoric Dysplasia
Micromelia, Joint stiffness, Joint hyperflexibility, Disproportionate short-limb short stature, I... ORPHA:2655
Rhabdoid Tumor
Thrombocytopenia, Hypercalcemia, Anemia, Weight loss ORPHA:69077
Multiple Endocrine Neoplasia, Type Iib
Joint laxity, Failure to thrive in infancy, High, narrow palate, Thick lower lip vermilion, Pheoc... OMIM:162300
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... OMIM:619705
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Failure to thrive, Sinusitis, Pure red cell aplasia, Autoimmune thro... OMIM:613179
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thin upper lip vermilion, Natal tooth, Absent nipple, Aplasia of the thymus, Micrognathia, Sparse... OMIM:620186
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Failure to thrive, Decreased proportion of naive T cells, Jaundice, Lymph node hypo... ORPHA:276
Keppen-Lubinsky Syndrome
Tented upper lip vermilion, Micrognathia, Postnatal growth retardation, Flexion contracture, Ging... ORPHA:435628
Adnp Syndrome
Joint laxity, Thin upper lip vermilion, Broad hallux, Sandal gap, Short stature, Abnormal toe mor... ORPHA:404448
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Abnormal paranasal sinus morphology, Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Williams-Beuren Syndrome
Osteopenia, Flexion contracture, Early onset of sexual maturation, Clinodactyly of the 5th finger... OMIM:194050
Non-Acquired Panhypopituitarism
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... ORPHA:90695
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus, Anemia ORPHA:99927
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Irregular iliac crest, Severe short stature, Abnormality of the epiphysis ... ORPHA:93316
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Short stature, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of... ORPHA:1765
Microcephalic Primordial Dwarfism, Dauber Type
Short stature, Abnormal carpal morphology, Madelung deformity, Primary amenorrhea, Obesity, Bilat... ORPHA:319675
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Hypercalcemia, Episodic hyperhidrosis, Weight loss, Paraganglioma ORPHA:94080
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Hypohidrosis, Hypocalcemia, Hypothyroidism, Generalized hirsutism ORPHA:1563
Choroideremia
Abnormal electroretinogram ORPHA:180
Retinitis Pigmentosa 19
Optic disc pallor, Abnormal electroretinogram OMIM:601718
Lethal Acantholytic Erosive Disorder
Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Clinodactyly of the 5th ... ORPHA:158687
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Femoral bowing, Anteriorly displaced genitalia, Foot oligodactyly, Long ear, Aplas... OMIM:276820
Noonan Syndrome 14
Short stature, High, narrow palate, Wide mouth, Thick vermilion border, Long philtrum, Clinodacty... OMIM:619745
Cerebellofaciodental Syndrome
Short stature, Single transverse palmar crease, Tapered finger, Cryptorchidism, Dental malocclusi... OMIM:616202
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexi... OMIM:210710
Congenital Varicella Syndrome
Intrauterine growth retardation, Micromelia ORPHA:291
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Hereditary Sensory And Autonomic Neuropathy Type 1
Limb pain, Pathologic fracture, Osteomyelitis ORPHA:36386
46,Xx Sex Reversal 5
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level OMIM:618901
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Hypercalcemia, Infantile, 1
Failure to thrive, Hypercalcemia, Decreased circulating parathyroid hormone level, Weight loss OMIM:143880
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Osteomyelitis, Thrombocytopenia, Splenomegaly, Hepat... ORPHA:781
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Arachnodactyly, Joint stiffness, Abnormal electroretinogram, Optic atrophy, Deviation of finger, ... ORPHA:1154
Ring Chromosome 10 Syndrome
Cachexia, Micrognathia, Thin vermilion border, Hypocalcemia, Long philtrum ORPHA:1438
Cousin Syndrome
Hypoplastic scapulae, Rhizomelia, Micrognathia, 4-5 toe syndactyly, Humeroradial synostosis, Micr... OMIM:260660
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Enamel hypoplasia ORPHA:251393
Cleft Palate, Deafness, And Oligodontia
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition OMIM:216300
Somatostatinoma
Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone c... ORPHA:97283
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Large for gestational age, Acceler... ORPHA:77301
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Joint stiffness, Follicular hyperplasia, Paratracheal lymphadenopathy, Leukope... OMIM:615934
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Abnormal electroretinogram OMIM:617173
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Micrognathia, High, narrow palate, Abnormal finger m... ORPHA:3472
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol... ORPHA:1106
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Cutaneous... ORPHA:93322
Galloway-Mowat Syndrome 8
Enamel hypoplasia OMIM:618349
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... ORPHA:3261
Thanatophoric Dysplasia Type 2
Short stature, Micromelia, Limitation of joint mobility, Joint hyperflexibility, Abnormal metaphy... ORPHA:93274
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... ORPHA:572333
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Decreased respon... OMIM:619503
22Q11.2 Deletion Syndrome
Micrognathia, Abnormal aortic arch morphology, Hypoplasia of the thymus, Hypocalcemia, Abnormalit... ORPHA:567
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th... ORPHA:2753
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent aphthous stomatitis, Recurrent sinusitis, Neutropenia, Lym... OMIM:614868
Multiple Endocrine Neoplasia Type 2
Joint laxity, Paraganglioma of head and neck, Cervical neoplasm, Hypercalcemia, Thyroid C cell hy... ORPHA:653
Glucagonoma
Neoplasm of the pancreas, Diabetes mellitus, Stomatitis, Hypercalcemia, Elevated circulating grow... ORPHA:97280
Åland Islands Eye Disease
Abnormal electroretinogram ORPHA:178333
Cystic Fibrosis
Osteopenia, Sinusitis, Osteoporosis, Abnormality of the liver, Cirrhosis, Failure to thrive, Decr... ORPHA:586
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Thin upper lip vermilion, Hyperextensibility of the finger joints, Hypospadia... ORPHA:163979
Fructose Intolerance, Hereditary
Hepatomegaly, Jaundice, Bicarbonaturia, Hypophosphatemia, Hyperuricemia, Cirrhosis, Hyperbilirubi... OMIM:229600
Digeorge Syndrome
Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia... OMIM:188400
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Intrauterine growth retardation, Re... OMIM:620133
Fibrochondrogenesis 1
Hypoplastic scapulae, Broad long bones, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia... OMIM:228520
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Severe Congenital Nemaline Myopathy
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture, Adducted thumb ORPHA:171430
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... OMIM:616100
Developmental And Epileptic Encephalopathy 28
Abnormal electroretinogram, Optic atrophy, Simplified gyral pattern OMIM:616211
Mosaic Trisomy 9
Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, Cryptorchidism, Micro... ORPHA:99776
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Abnormal electroretinogram ORPHA:1369
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Micromelia, Postaxial hand polydactyly, Hepa... OMIM:200995
Sarcoidosis
Hemolytic anemia, Hepatomegaly, Parotitis, Eosinophilia, Portal hypertension, Thrombocytopenia, I... ORPHA:797
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Hyperkalemia, Highly elevated creatine kinase, Hyperphos... ORPHA:99845
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Developmental And Epileptic Encephalopathy 89
Microretrognathia, Thin upper lip vermilion, Flexion contracture, Wide nasal bridge, Cleft palate... OMIM:619124
Hypothyroidism, Congenital, Nongoitrous, 9
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... OMIM:301035
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Aneurysm-Osteoarthritis Syndrome
Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptodactyly of fi... ORPHA:284984
Rapp-Hodgkin Syndrome
Syndactyly, Short stature, Conical tooth, Hypoplasia of the maxilla, Cleft upper lip, 2-3 toe cut... OMIM:129400
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia OMIM:152800
Generalized Pustular Psoriasis
Elevated hepatic transaminase, Overweight, Leukocytosis, Obesity, Cheilitis, Arthritis, Lymphopen... ORPHA:247353
Pediatric Systemic Lupus Erythematosus
Oral ulcer, Lymphadenopathy, Leukopenia, Arthritis, Microangiopathic hemolytic anemia, Lymphopeni... ORPHA:93552
Microphthalmia, Syndromic 9
Severe short stature, Short stature, Micrognathia, Patent ductus arteriosus, Multilobulated splee... OMIM:601186
Hydrolethalus
Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Submucous cleft hard palate... ORPHA:2189
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Sinusitis, Sandal gap, Short stature, Micrognathia, Malar prominence... OMIM:251260
Familial Multinodular Goiter
Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Thyroid carcinoma, Testicular seminoma, S... ORPHA:276399
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Joint laxity, Short stature, Decreased serum iron, Precocious puberty, Abnormality of... ORPHA:438213
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Cockayne Syndrome
Elevated hepatic transaminase, Hepatomegaly, Severe short stature, Abnormal dental morphology, Ca... ORPHA:191
Vici Syndrome
Failure to thrive, Median cleft lip, Everted upper lip vermilion, Micrognathia, Cleft upper lip, ... OMIM:242840
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Flexion contracture, Osteoporos... ORPHA:365
Adult-Onset Autosomal Dominant Leukodystrophy
Anhidrosis, Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatose... ORPHA:99027
Blue Rubber Bleb Nevus
Iron deficiency anemia, Abnormality of the liver, Pathologic fracture, Thrombocytopenia OMIM:112200
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Coxa vara, Iliac crest serration, Rhizomelia, Limited knee extension, W... ORPHA:239
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... ORPHA:913
Fusariosis
Brain abscess, Lung abscess, Osteomyelitis, Sinusitis, Abnormality of the spleen, Peritonitis, Ar... ORPHA:228119
Fibrochondrogenesis 2
Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Ma... OMIM:614524
Pseudoleprechaunism Syndrome, Patterson Type
Diabetes mellitus, Abnormal limb epiphysis morphology, Metaphyseal sclerosis, Flat acetabular roo... ORPHA:2976
Craniofacioskeletal Syndrome
Absent gallbladder, Thin upper lip vermilion, Hypospadias, Micrognathia, Cryptorchidism, Hypoplas... OMIM:300712
Bartsocas-Papas Syndrome 1
Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Flexion contracture, Short pha... OMIM:263650
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... OMIM:600383
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision circle level, ... OMIM:619767
Retinitis Pigmentosa 4
Abnormal electroretinogram OMIM:613731
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Grfoma
Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Anore... ORPHA:97261
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Arachnodactyly, Rocker bottom foot, Abnormal pinna morphology, Wide anterior fontanel, Ulnar bowi... OMIM:207410
Combined Pituitary Hormone Deficiencies, Genetic Forms
Osteopenia, Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, A... ORPHA:95494
Ppoma
Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Anore... ORPHA:97278
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Adrenocortical carcinoma, Supernumerary tooth, Odontoma, Adrenocortical... ORPHA:247806
Dpagt1-Cdg
Hepatomegaly, Arachnodactyly, Flexion contracture, Osteoporosis, Camptodactyly, Clinodactyly, Fai... ORPHA:86309
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Clinodactyly of the 5th finger, Lymphopenia ORPHA:1116
Loeys-Dietz Syndrome 2
Joint laxity, Syndactyly, Arachnodactyly, Postaxial polydactyly, Craniosynostosis, Micrognathia, ... OMIM:610168
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Short stature, Elbow dislocation, Hypoplasia o... ORPHA:85170
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leu... OMIM:615688
Neurofibromatosis Type 1
Abnormal hair quantity, Short stature, Recurrent fractures, Hearing impairment, Joint stiffness, ... ORPHA:636
Epidermolysis Bullosa, Lethal Acantholytic
Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Clinodactyly of the 5th finger, Tapered ... OMIM:609638
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Micropenis... ORPHA:672
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Hypoplasia of the premaxilla, Adrenal hypoplasia, Micrognathia,... ORPHA:2166
Retinitis Pigmentosa 7
Abnormal electroretinogram OMIM:608133
17Q11 Microdeletion Syndrome
Osteopenia, Short stature, Bowing of the legs, Precocious puberty, Osteoporosis, Osteolysis, Glom... ORPHA:97685
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Micromelia, Flared metaphysis, Short ribs, Lethal short-limbed ... OMIM:187601
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Downturned corners of mouth, Hypocalcemia, Hypoplasia of the prima... OMIM:243800
Cutis Marmorata Telangiectatica Congenita
Finger syndactyly, Toe syndactyly, Micrognathia, Orofacial cleft, Reduced bone mineral density, A... ORPHA:1556
Chromosome 14Q11-Q22 Deletion Syndrome
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Proportionate short stature, Micrognath... OMIM:613457
Familial Multiple Lipomatosis
Premature eruption of permanent teeth, Bowing of the long bones, Odontogenic keratocysts of the j... ORPHA:199276
Timothy Syndrome
Microdontia, Thin upper lip vermilion, Hypothyroidism, Hypocalcemia OMIM:601005
Smith-Lemli-Opitz Syndrome
Dental crowding, Micromelia, Proximal placement of thumb, Micrognathia, 2-3 toe cutaneous syndact... OMIM:270400
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Hypercalcemia, ... OMIM:131100
Fanconi Anemia, Complementation Group L
Absent thumb, Absent radius, Growth delay, Anotia, Bilateral talipes equinovarus, Bone marrow hyp... OMIM:614083
Cornelia De Lange Syndrome
Proximal placement of thumb, Micrognathia, Downturned corners of mouth, Widely spaced teeth, High... ORPHA:199
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, ... OMIM:250420
Coffin-Siris Syndrome 1
Conical tooth, Prominent interphalangeal joints, Short philtrum, High palate, Clinodactyly of the... OMIM:135900
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Tibial bowing, Fem... OMIM:304120
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Hamartoma of tongue, Micrognathia, Cryptorchidism, Epispadias, Su... OMIM:615948
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Lymph node hypoplasia, B lymp... OMIM:300755
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Abnormal pinna morphology, Bifid uterus, Preaxial hand polydactyly... OMIM:236680
Gitelman Syndrome
Neoplasm of the pancreas, Salt craving, Maternal diabetes, Hypomagnesemia, Delayed puberty, Hyper... ORPHA:358
Focal Dermal Hypoplasia
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Oligodontia, Foot oligodactyly... OMIM:305600
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Short stature, Enteroviral hepatitis, Delayed skeletal maturation, Absent circulating ... OMIM:307200
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Calcaneovalgus deformity, Fl... ORPHA:261537
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Short stature, Recurrent fractures, Joint hypermobility OMIM:619120
Developmental Malformations-Deafness-Dystonia Syndrome
Hypoplastic scapulae, Short stature, Femoral retroversion, Micromelia, Orofacial cleft, Macroglossia ORPHA:79107
Alport Syndrome 3A, Autosomal Dominant
Azotemia, Hypophosphatemia OMIM:104200
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Orofaciodigital Syndrome Type 14
Microretrognathia, Broad hallux, Deviation of the hallux, Accessory oral frenulum, Hamartoma of t... ORPHA:434179
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Hip contracture, Generalized lymphadenopathy, Ankle flexion contracture, Knee flexion contracture... OMIM:620232
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Hemorrhagic Fever-Renal Syndrome
Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating creatinine concentration, Hype... ORPHA:340
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Split hand, Femoral bowing, A... ORPHA:1860
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... OMIM:242700
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, High, narrow palate, Thick l... ORPHA:369950
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Veloph... OMIM:209885
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Conical incisor, Enamel hypoplasia OMIM:614564
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Weight loss, Abnormal lymphatic vessel morphology, Growth delay, Decreased p... ORPHA:90362
Odontomicronychial Dysplasia
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... ORPHA:1811
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Cleft palate, Parathyroi... ORPHA:2237
Neuropathy, Hereditary Sensory And Autonomic, Type V
Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury, Septic arth... OMIM:608654
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Postaxial polydactyly, Micromelia, Hypoplasia of the radius, Short ribs, Long philtru... OMIM:617895
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Episodic hyperhidro... ORPHA:276621
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemi... OMIM:601678
Branchiootorenal Syndrome 1
Cleft palate, Euthyroid goiter, High palate, Increased overbite, Microdontia, Bifid uvula OMIM:113650
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Craniopharyngioma
Proportionate short stature, Postnatal growth retardation, Obesity, Increased susceptibility to f... ORPHA:54595
Grange Syndrome
Syndactyly, Recurrent fractures, Increased susceptibility to fractures, Finger clinodactyly, Decr... OMIM:602531
Schisis Association
Small for gestational age, Cleft palate, Unilateral cleft lip, Micromelia ORPHA:63862
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Palatine myxoma, Pituitary adenoma, Pheochromo... OMIM:160980
Thyroid Ectopia
Short stature, Abnormality of the thyroid gland, Jaundice, Growth delay, Macroglossia, Ectopic th... ORPHA:95712
Thyroid Hypoplasia
Short stature, Jaundice, Growth delay, Macroglossia, Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Bent Bone Dysplasia Syndrome 2
Osteopenia, Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Hypoplastic iliac wing, Uln... OMIM:620076
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum ORPHA:3214
Fibrochondrogenesis
Hypoplastic scapulae, Short stature, Camptodactyly of finger, Micromelia, Cleft palate, Abnormal ... ORPHA:2021
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Upper limb muscle weakness, EEG abnormality, Erec... ORPHA:206448
Gm1 Gangliosidosis Type 1
Gingival overgrowth, Hepatosplenomegaly, Macroglossia, Flared iliac wing, Short long bone, Long p... ORPHA:79255
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia OMIM:156232
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Syndactyly, Unilateral hypoplasia of pectoralis major muscle, Craniosynostosis, Bifid uterus, Abn... ORPHA:1521
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Micrognathia, Knee flexion contracture, Overlapping fingers, Lymphopenia, Absent uvula OMIM:619708
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ... ORPHA:1071
Joubert Syndrome 25
Abnormal electroretinogram OMIM:616781
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Osteopenia, Micrognathia, Splenomegaly, Hypokalemia, High palate, Renal... OMIM:617913
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Short stature, Abnormality of the dentition, Wide mouth, Enamel hypoplasia, Failure to thrive, Bi... OMIM:615802
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Thin upper lip vermilion, Tented upper lip vermilion, Wide nasal bridge, Abnormality of primary t... ORPHA:438216
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Increased circulating cortisol level, Pheochromo... OMIM:171400
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Asplenia, Cholelithiasis, Enamel hypoplasia, Chronic active hepatitis OMIM:240300
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Calcaneovalgus deformity, Fl... ORPHA:261552
Interstitial Cystitis
Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ... ORPHA:37202
Myhre Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Vertebr... OMIM:139210
Sotos Syndrome
Joint laxity, Hip contracture, Craniosynostosis, Ankle flexion contracture, Abnormality of the de... ORPHA:821
Arboleda-Tham Syndrome
Mandibular prognathia, Bilateral cryptorchidism, Downturned corners of mouth, Short philtrum, Gen... OMIM:616268
Meckel Syndrome 14
Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia... OMIM:619879
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Reduced bone mineral den... ORPHA:2911
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Torticollis, Oligozoospermia OMIM:314300
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Failure to thrive in infancy, Hypocalcemia ORPHA:746
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Episodic hyperhidro... ORPHA:29072
Ataxia-Telangiectasia
Failure to thrive, Sinusitis, Short stature, Acute lymphoblastic leukemia, T lymphocytopenia, Hyp... OMIM:208900
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma, Hypercalcemia, Hyperhidrosis OMIM:171420
Liver Disease, Severe Congenital
Dry hair, Micrognathia, Biliary hyperplasia, Leukopenia, Hypocalcemia, Lymphocytosis, Elevated he... OMIM:619991
Roberts-Sc Phocomelia Syndrome
Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Wrist flexion c... OMIM:268300
Phace Association
Arterial stenosis, Coarctation of aorta, Congenital hypothyroidism, Lingual thyroid, Aortic aneurysm OMIM:606519
Charge Syndrome
Decreased response to growth hormone stimulation test, External genital hypoplasia, Micrognathia,... OMIM:214800
Mowat-Wilson Syndrome
Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Calcaneovalgus deformity, Fl... ORPHA:2152
Dihydropyrimidine Dehydrogenase Deficiency
Delayed eruption of teeth, Epiphyseal dysplasia, Deep philtrum, High palate, Open mouth, Retrogna... ORPHA:1675
Pmm2-Cdg
Osteopenia, Mandibular prognathia, Multiple joint contractures, Elevated circulating thyroid-stim... ORPHA:79318
Cowden Syndrome 7
Ductal carcinoma in situ, Hashimoto thyroiditis, Papillary thyroid carcinoma, Goiter OMIM:616858
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Rectal abscess, Recurrent sinusitis, Neutropenia, Failure to thrive OMIM:601495
Mesomelic Dysplasia, Savarirayan Type
Short stature, Fibular aplasia, Mesomelia, Short tibia, Dislocated radial head OMIM:605274
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Radio-Renal Syndrome
Severe short stature, Micromelia, Micrognathia, High, narrow palate, Hypoplasia of the radius, Ab... ORPHA:3015
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Chronic neutropenia, Large for gestational age, Abnormal thumb morphology,... ORPHA:500095
Floating-Harbor Syndrome
Hypoplasia of the maxilla, Humeral pseudarthrosis, Oligodontia, Short philtrum, Microdontia, Disl... ORPHA:2044
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Growth delay, ... OMIM:616084
Isotretinoin-Like Syndrome
Micrognathia, Postnatal growth retardation, Patent ductus arteriosus, Cleft palate, Intrauterine ... ORPHA:2306
Bacterial Toxic-Shock Syndrome
Sinusitis, Osteomyelitis, Elevated circulating creatine kinase concentration, Abscess, Elevated c... ORPHA:36234
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... ORPHA:35078
Immunodeficiency 55
Absent natural killer cells, Short stature, Postnatal growth retardation, Lymphadenopathy, Neutro... OMIM:617827
Heimler Syndrome 1
Enamel hypoplasia, Amelogenesis imperfecta OMIM:234580
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Arthrogryposis multiplex congenita, Enamel hypoplasia, Oral mucosal blisters OMIM:226730
Joubert Syndrome 3
Frontal polymicrogyria, Abnormal electroretinogram, Low-set ears OMIM:608629
Thoracic Dysplasia-Hydrocephalus Syndrome
Limb undergrowth, Abnormal metaphysis morphology, Short stature ORPHA:1861
Ehlers-Danlos Syndrome, Vascular Type
Short stature, Joint hypermobility, Cryptorchidism, Cystocele, Foot acroosteolysis, Cervical insu... OMIM:130050
Tetrasomy 9P
Absent gallbladder, Myositis, Hypoplastic scapulae, Cryptorchidism, Jaundice, Biliary atresia, Sm... ORPHA:3310
Van Den Bosch Syndrome
Abnormal electroretinogram ORPHA:3417
Barber-Say Syndrome
Delayed eruption of teeth, Failure to thrive, Wide mouth ORPHA:1231
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Natal tooth, Short philtrum, Cleft palate OMIM:617337
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Failure to thrive, Absent circulating B cells OMIM:619693
C Syndrome
Toe syndactyly, Short stature, Failure to thrive in infancy, Micromelia, Micrognathia, Accessory ... ORPHA:1308
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Oral ulcer, Weight loss, Iron deficiency anemia, Arthritis, Lymphocytosis, Thro... OMIM:301074
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Parathyroid adenoma, Pancreatitis OMIM:145980
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased p... ORPHA:760
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... OMIM:104570
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim... OMIM:619573
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Joint contracture, Failure to thrive, Optic atrophy OMIM:616881
Limb-Mammary Syndrome
Syndactyly, Alopecia, Toe syndactyly, Absent nipple, Sparse eyebrow, 3-4 finger cutaneous syndact... ORPHA:69085
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Carious teeth, Enamel hypoplasia OMIM:612843
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Aggressive behavior, Thick lower lip vermilion, Mesiodens, Narrow mouth, Abnormal social behavior... ORPHA:314647
Exudative Vitreoretinopathy 1
Recurrent fractures OMIM:133780
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Primary hyperparathyroidism, Hypermagnesemia, Pancreatitis OMIM:145981
Developmental And Epileptic Encephalopathy 100
Tented upper lip vermilion, Micrognathia, Protruding tongue, Bilateral camptodactyly, Elbow flexi... OMIM:619777
Becker Nevus Syndrome
Upper limb asymmetry, Abnormal tibia morphology, Supernumerary nipple, Micromelia ORPHA:64755
Brittle Cornea Syndrome 2
Recurrent fractures, Joint hypermobility OMIM:614170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Enlarged flash visual evoked potentials, Undetectable electroretinogram, Optic atrophy, EEG abnor... OMIM:253280
Amyloidosis, Hereditary, Transthyretin-Related
Sensorineural hearing impairment, Impotence, Amyloidosis, Abnormal autonomic nervous system physi... OMIM:105210
Ulbright-Hodes Syndrome
Maternal diabetes, Micrognathia, High palate, Phocomelia, Short metacarpal, Cryptorchidism, Humer... ORPHA:3404
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Mild postnatal growth retardation, Carious teeth, Sp... ORPHA:90324
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of ton... OMIM:613091
Aa Amyloidosis
Hepatomegaly, Cholestasis, Amyloidosis, Adrenal insufficiency, Renal amyloidosis, Hypothyroidism ORPHA:85445
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Severe postnatal growth retardation, Apla... OMIM:266810
Lacrimoauriculodentodigital Syndrome 3
Carious teeth, Short thumb, Partial duplication of thumb phalanx, Widely spaced teeth, Enamel hyp... OMIM:620193
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... ORPHA:2502
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Micromelia, Micrognathia, Cleft upper lip, Preaxial hand polydactyly, Postaxial hand polydactyly,... ORPHA:93271
Nivelon-Nivelon-Mabille Syndrome
Short metacarpal, Severe short stature, Elevated circulating creatine kinase concentration, Micro... OMIM:600092
Chromosome 17Q12 Deletion Syndrome
Elevated hepatic transaminase, Long toe, Short stature, Highly arched eyebrow, Sparse eyebrow, Cr... OMIM:614527
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border OMIM:620114
Pachyonychia Congenita 2
Oral leukoplakia, Natal tooth, Angular cheilitis OMIM:167210
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Severe short stature, Cachexia, Premature loss of teeth, Failure t... OMIM:610965
Autosomal Recessive Spastic Paraplegia Type 77
Bilateral cryptorchidism, Macrodontia of permanent maxillary central incisor, Retrognathia ORPHA:466722
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Xerostomia, Thyroiditis, Weight loss, Enlargement of parotid gland, Nod... ORPHA:79078
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Optic disc pallor, Abnormal pinna morphology, Abnormal electroretinogram, Small pituitary gland, ... OMIM:614195
Syndromic Diarrhea
Hepatomegaly, Small for gestational age, Short stature, Increased mean platelet volume, Splenomeg... ORPHA:84064
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... ORPHA:26793
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Ramon Syndrome
Delayed eruption of teeth, Short stature, Gingival fibromatosis, Narrow palate, Decreased body we... OMIM:266270
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Multinodular goiter, Nail dystrophy, Premature loss of teeth, Alopecia of scalp OMIM:618373
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... OMIM:600802
Whim Syndrome
Sinusitis, Severe periodontitis, Lymphadenitis, Abnormal neutrophil morphology, Neutropenia, Lymp... ORPHA:51636
Odontoonychodermal Dysplasia
Palmoplantar hyperkeratosis, Abnormality of primary teeth, Agenesis of permanent teeth, Conical i... OMIM:257980
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Conical inciso... OMIM:149730
Lacrimoauriculodentodigital Syndrome
Micrognathia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnormal digit mo... ORPHA:2363
Exercise-Induced Malignant Hyperthermia
Anhidrosis, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, ... ORPHA:466650
Palmoplantar Carcinoma, Multiple Self-Healing
Cutaneous macular amyloidosis, Amyloidosis, Nail dystrophy, Finger joint hypermobility OMIM:615225
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Neu-Laxova Syndrome 1
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Micrognathia, Swollen lip, Lon... OMIM:256520
Linear Skin Defects With Multiple Congenital Anomalies 3
Delayed eruption of primary teeth, Failure to thrive, Thyroid C cell hyperplasia OMIM:300952
Generalized Arterial Calcification Of Infancy
Calcification of the auricular cartilage, Failure to thrive in infancy, Osteomalacia, Stippled ca... ORPHA:51608
Pheochromocytoma
Renal artery stenosis, Pheochromocytoma, Hypercalcemia, Hyperhidrosis OMIM:171300
Cardiac-Urogenital Syndrome
Accessory spleen, Bifid scrotum, Unilateral cryptorchidism, Tracheomalacia, Congenital diaphragma... OMIM:618280
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Short toe, Patent ductus arteriosus, Orofacial cleft, Thin vermilion border, E... ORPHA:1519
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors OMIM:610706
Machado-Joseph Disease
Gliosis, Abnormal electrooculogram, Abnormal autonomic nervous system physiology OMIM:109150
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombo... ORPHA:1572
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Bowed humerus, Short lingual frenulum, Flexion contracture, Short ... OMIM:619479
Mucolipidosis Type Iv
EEG abnormality, Abnormal electroretinogram ORPHA:578
Townes-Brocks Syndrome 1
Bifid scrotum, Short metatarsal, Triphalangeal thumb, Hypothyroidism, 2-4 finger syndactyly, Hypo... OMIM:107480
Periodic Fever, Familial, Autosomal Dominant
Hepatomegaly, Myositis, Cervical lymphadenopathy, Oligoarthritis, AA amyloidosis, Hepatic amyloid... OMIM:142680
Ichthyosis, Congenital, Autosomal Recessive 11
Conical primary incisor OMIM:602400
Phace Syndrome
Aortic root aneurysm, Hypothyroidism, Ectopic thyroid, Coarctation of aorta ORPHA:42775
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Pancreatic fibrosis, Hamartoma of tongue, Preaxial hand polydactyly, Postaxial ... OMIM:263520
Glucose-Galactose Malabsorption
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss ORPHA:35710
Amyloidosis, Finnish Type
Cardiac amyloidosis, Generalized amyloid deposition OMIM:105120
Myeloma, Multiple
Amyloidosis, Paraproteinemia OMIM:254500
Okamoto Syndrome
Bifid uterus, Splenomegaly, Extension of hair growth on temples to lateral eyebrow, Severe postna... ORPHA:2729
Proximal Renal Tubular Acidosis
Mild postnatal growth retardation, Short stature, Enamel hypomineralization, Bicarbonaturia, Redu... ORPHA:47159
Congenital Fibrosis Of Extraocular Muscles
Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Congenital sensorineural hearing impairmen... ORPHA:45358
Usher Syndrome
Sensorineural hearing impairment, Abnormal electroretinogram, Vestibular areflexia, Decreased fer... ORPHA:886
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Cervix cancer, Multinodular goiter, Micrognathia OMIM:620189
Amelogenesis Imperfecta, Type Ig
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... OMIM:204690
Autosomal Recessive Cutis Laxa Type 1
Joint laxity, Severe short stature, Wide anterior fontanel, Hip dislocation, Pathologic fracture,... ORPHA:90349
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Nail-biting, Thin upper lip vermilion, Small scrotum, Joint laxity, Aggres... OMIM:620330
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Septate vagina, Sensorineural hearing impairment, Uterus didelphys, Primary a... OMIM:146255
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Facial hypotonia, Abnormal hair whor... ORPHA:457284
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Peters Plus Syndrome
Micromelia, Micrognathia, Widely spaced teeth, Clinodactyly of the 5th finger, Rhizomelia, Exagge... ORPHA:709
Usher Syndrome Type 2
Sensorineural hearing impairment, Abnormal electroretinogram ORPHA:231178
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... ORPHA:1031
Amyloidosis, Primary Localized Cutaneous, 2
Cutaneous amyloidosis OMIM:613955
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cholestatic liver disease, Abnormal electroretinogram, Failure to thrive ORPHA:5
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Severe short stature, Bowed humerus, Short tubular bones of the hand, Tibi... OMIM:184253
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Congenital hip dislocation, Micrognathia, Patellar ap... OMIM:606170
Primary Sjögren Syndrome
Normocytic anemia, Chronic active hepatitis, Parotitis, Biliary cirrhosis, Chronic hepatitis, Lym... ORPHA:289390
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Failure to thrive in infancy, Clubbing, Hypohidrosis, Frontal upsweep of hair, Cutaneous amyloido... OMIM:301220
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Brain abscess, Diabetes mellitus, Leukocytosis, Hyperkalemia, Hyp... ORPHA:544482
Vitreoretinopathy, Neovascular Inflammatory
Abnormal electroretinogram OMIM:193235
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Abnormal electroretinogram, Hypsarrhythmia ORPHA:542306
Alpha-Fetoprotein Deficiency
Decreased circulating alpha-fetoprotein concentration OMIM:615969
Pallister-Killian Syndrome
Congenital hip dislocation, Tented upper lip vermilion, Micrognathia, Flexion contracture, Campto... OMIM:601803
Reynolds Syndrome
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestas... OMIM:613471
Retinitis Pigmentosa 43
Optic disc pallor, Abnormal electroretinogram OMIM:613810
Cerebral Amyloid Angiopathy, Cst3-Related
Generalized amyloid deposition OMIM:105150
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Tooth Agenesis, Selective, 4
Abnormality of primary teeth, Agenesis of permanent teeth, Tooth agenesis, Palmoplantar hyperhidr... OMIM:150400
Amyloidosis, Primary Localized Cutaneous, 1
Amyloidosis OMIM:105250
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Amyloidosis OMIM:204850
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
Amyloidosis, Cutaneous Bullous
Amyloidosis OMIM:204900
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Accessory oral frenulum, Hamartoma of tongue, Postaxial polydactyly, Micromelia, Aplastic clavicl... OMIM:616546
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Congenital hip dislocation, Block vertebrae, Asplenia, Patent ductus arteriosus, Bi... OMIM:306955
Retinitis Pigmentosa 45
Abnormal electroretinogram OMIM:613767
Ethylene Glycol Poisoning
Addictive alcohol use, Hyperkalemia, Hypocalcemia ORPHA:31826
Scalp-Ear-Nipple Syndrome
Delayed eruption of teeth, Abnormality of the dentition ORPHA:2036
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor, Aplasia of the eccrine sweat glands OMIM:300291
Aapoaiv Amyloidosis
Diabetes mellitus, Renal interstitial amyloid deposits, Paraproteinemia, Renal amyloidosis, Cutan... ORPHA:439232
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Nk-Cell Enteropathy
Increased T cell count ORPHA:263665
Oeis Complex
Congenital hip dislocation, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female... OMIM:258040
Mowat-Wilson Syndrome
Delayed eruption of teeth, Short stature, Patent ductus arteriosus, Submucous cleft hard palate, ... OMIM:235730
Congenital Disorder Of Glycosylation, Type Iim
Mandibular prognathia, Exaggerated cupid's bow, Fused teeth, High palate, Short philtrum, Thick v... OMIM:300896
Norrie Disease
Diabetes mellitus, Cachexia, Cryptorchidism, Macrotia, Sensorineural hearing impairment, Optic at... ORPHA:649
Cone-Rod Dystrophy 2
Abnormal electroretinogram OMIM:120970
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia ORPHA:73224
Pontocerebellar Hypoplasia Type 7
Skeletal muscle atrophy, Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgen... ORPHA:284339
Junctional Epidermolysis Bullosa With Pyloric Atresia
Enamel hypoplasia, Oral mucosal blisters ORPHA:79403
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Cupped ear, Microtia, Rectovaginal fistula, Overfolded helix, Spina bi... OMIM:617466
Vascular Ehlers-Danlos Syndrome
Alopecia, Congenital hip dislocation, Hypospadias, Short stature, Abnormality of hair texture, Ab... ORPHA:286
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Enamel hypoplasia, Amelogenesis imperfecta OMIM:245660
Knobloch Syndrome 2
Patent ductus arteriosus, Enamel hypoplasia, Micrognathia OMIM:618458
Loeys-Dietz Syndrome
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Joint hyperflexibility, Uterine rupture ORPHA:60030
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Absent external genitalia, Aplasia of the vagina, Aplasia of t... OMIM:271520
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ma... ORPHA:322
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Neurofibrillary tangles, Hearing impairment, Cerebral amyloid angiopathy OMIM:117300
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus, Vertebral fusion ORPHA:3109
Acute Zonal Occult Outer Retinopathy
Abnormal electroretinogram ORPHA:284454
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
Csf1tm44954(L1L2_st1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Csf1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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